| geneid | 4983 |
|---|---|
| ensemblid | ENSG00000079482.14 |
| hgncid | 8148 |
| symbol | OPHN1 |
| name | oligophrenin 1 |
| refseq_nuc | NM_002547.3 |
| refseq_prot | NP_002538.1 |
| ensembl_nuc | ENST00000355520.6 |
| ensembl_prot | ENSP00000347710.5 |
| mane_status | MANE Select |
| chr | chrX |
| start | 68042344 |
| end | 68433495 |
| strand | - |
| ver | v1.2 |
| region | chrX:68042344-68433495 |
| region5000 | chrX:68037344-68438495 |
| regionname0 | OPHN1_chrX_68042344_68433495 |
| regionname5000 | OPHN1_chrX_68037344_68438495 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/0 | 802 | 151 | 53 | 26 | 48 | 7 | 16 | 34 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0002 | 0/1 | 802 | 2 | 0 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0003 | 0/0 | 802 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0004 | 0/0 | 782 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 1/0 | 2409 | 149 | 53 | 26 | 48 | 7 | 14 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| c0002 | 0/1 | 2409 | 2 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| c0003 | 0/0 | 2409 | 2 | 0 | 0 | 0 | 0 | 2 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| c0004 | 0/0 | 2409 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| c0005 | 0/0 | 2407 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 1/0 | 5161 | 61 | 0 | 13 | 34 | 4 | 9 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0002 | 0/0 | 5160 | 24 | 14 | 1 | 9 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0003 | 0/1 | 5162 | 18 | 11 | 3 | 0 | 1 | 2 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0004 | 0/0 | 5161 | 11 | 9 | 2 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0005 | 0/0 | 5160 | 6 | 6 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0006 | 0/0 | 5160 | 5 | 3 | 2 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0007 | 0/0 | 5162 | 4 | 4 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0008 | 0/0 | 5161 | 2 | 2 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0009 | 0/0 | 5162 | 2 | 1 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0010 | 0/0 | 5160 | 2 | 0 | 0 | 0 | 0 | 2 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0011 | 0/0 | 5160 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0012 | 0/0 | 5163 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0013 | 0/0 | 5163 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0014 | 0/0 | 5162 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0015 | 0/0 | 5159 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0016 | 0/0 | 5159 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0017 | 0/0 | 5160 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0018 | 0/0 | 5161 | 1 | 0 | 0 | 0 | 1 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0019 | 0/0 | 5161 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0020 | 0/0 | 5161 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0021 | 0/0 | 5161 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0022 | 0/0 | 5160 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0023 | 0/0 | 5162 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0024 | 0/0 | 5162 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0025 | 0/0 | 5161 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0026 | 0/0 | 5162 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0027 | 0/0 | 5161 | 1 | 0 | 0 | 0 | 1 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0028 | 0/0 | 5160 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0029 | 0/0 | 5160 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| t0030 | 0/0 | 5162 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0025 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0069 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0072 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0079 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0089 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0091 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0104 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0142 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0149 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/0 | 2409 | 149 | 53 | 26 | 48 | 7 | 14 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0003 | 0/0 | 2409 | 2 | 0 | 0 | 0 | 0 | 2 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0002c0002 | 0/1 | 2409 | 2 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0003c0004 | 0/0 | 2409 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0004c0005 | 0/0 | 2407 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/0 | 7569 | 60 | 0 | 12 | 34 | 4 | 9 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0002 | 0/0 | 7568 | 24 | 14 | 1 | 9 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0003 | 0/0 | 7570 | 17 | 11 | 3 | 0 | 1 | 2 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0004 | 0/0 | 7569 | 11 | 9 | 2 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0005 | 0/0 | 7568 | 6 | 6 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0006 | 0/0 | 7568 | 5 | 3 | 2 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0007 | 0/0 | 7570 | 4 | 4 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0008 | 0/0 | 7569 | 2 | 2 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0009 | 0/0 | 7570 | 2 | 1 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0011 | 0/0 | 7568 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0013 | 0/0 | 7571 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0015 | 0/0 | 7567 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0016 | 0/0 | 7567 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0017 | 0/0 | 7568 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0018 | 0/0 | 7569 | 1 | 0 | 0 | 0 | 1 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0019 | 0/0 | 7569 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0020 | 0/0 | 7569 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0021 | 0/0 | 7569 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0022 | 0/0 | 7568 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0023 | 0/0 | 7570 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0024 | 0/0 | 7570 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0025 | 0/0 | 7569 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0026 | 0/0 | 7570 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0027 | 0/0 | 7569 | 1 | 0 | 0 | 0 | 1 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0028 | 0/0 | 7568 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0029 | 0/0 | 7568 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0001t0030 | 0/0 | 7570 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0001c0003t0010 | 0/0 | 7568 | 2 | 0 | 0 | 0 | 0 | 2 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0002c0002t0001 | 0/0 | 7569 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0002c0002t0003 | 0/1 | 7570 | 1 | 0 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0003c0004t0014 | 0/0 | 7570 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| a0004c0005t0012 | 0/0 | 7569 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | copy fasta | chrX | 68037344 | 68438495 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0142 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0002g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0003g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0003g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0003g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0003g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0003g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0003g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0003g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0003g0091 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0003g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0003g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0003g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0003g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0003g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0003g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0003g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0003g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0003g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0004g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0004g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0004g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0004g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0004g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0004g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0004g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0004g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0004g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0004g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0004g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0005g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0005g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0005g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0005g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0005g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0005g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0006g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0006g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0006g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0006g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0006g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0007g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0007g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0007g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0007g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0008g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0008g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0009g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0009g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0011g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0013g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0015g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0016g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0017g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0018g0104 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0019g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0020g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0021g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0022g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0023g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0024g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0025g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0026g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0027g0072 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0028g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0029g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0001t0030g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0003t0010g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0001c0003t0010g0089 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0002c0002t0001g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0002c0002t0003g0001 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0003c0004t0014g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| a0004c0005t0012g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0027 | g0072 | EUR | GBR | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG00099 | hp2 | a0001 | c0001 | t0003 | g0091 | EUR | GBR | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0069 | EUR | GBR | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG00280 | hp1 | a0001 | c0001 | t0018 | g0104 | EUR | FIN | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0050 | EAS | CHS | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0051 | EAS | CHS | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0071 | AMR | PUR | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG00673 | hp1 | a0001 | c0001 | t0002 | g0047 | EAS | CHS | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0093 | AMR | PUR | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG00735 | hp2 | a0001 | c0001 | t0004 | g0005 | AMR | PUR | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG00738 | hp1 | a0001 | c0001 | t0020 | g0099 | AMR | PUR | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0132 | AMR | PUR | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0141 | AMR | PUR | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01081 | hp1 | a0001 | c0001 | t0022 | g0103 | AMR | PUR | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01081 | hp2 | a0001 | c0001 | t0004 | g0030 | AMR | PUR | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01099 | hp1 | a0001 | c0001 | t0003 | g0035 | AMR | PUR | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01106 | hp1 | a0001 | c0001 | t0003 | g0100 | AMR | PUR | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01167 | hp1 | a0001 | c0001 | t0006 | g0121 | AMR | PUR | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01169 | hp1 | a0001 | c0001 | t0006 | g0120 | AMR | PUR | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01169 | hp2 | a0004 | c0005 | t0012 | g0024 | AMR | PUR | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01192 | hp1 | a0001 | c0001 | t0003 | g0076 | AMR | PUR | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01243 | hp1 | a0001 | c0001 | t0009 | g0129 | AMR | PUR | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01255 | hp1 | a0001 | c0001 | t0002 | g0125 | AMR | CLM | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0016 | AMR | CLM | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0074 | AMR | CLM | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0059 | AMR | CLM | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0008 | AMR | CLM | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01346 | hp2 | a0001 | c0001 | t0013 | g0042 | AMR | CLM | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01358 | hp1 | a0002 | c0002 | t0001 | g0002 | AMR | CLM | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0090 | AMR | CLM | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0025 | EUR | IBS | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01891 | hp1 | a0001 | c0001 | t0002 | g0133 | AFR | ACB | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01891 | hp2 | a0001 | c0001 | t0004 | g0117 | AFR | ACB | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0046 | AMR | PEL | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0147 | AMR | PEL | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01943 | hp1 | a0001 | c0001 | t0015 | g0148 | AMR | PEL | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG01952 | hp1 | a0001 | c0001 | t0017 | g0036 | AMR | PEL | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0060 | EAS | KHV | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02027 | hp1 | a0001 | c0001 | t0002 | g0123 | EAS | KHV | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02055 | hp1 | a0001 | c0001 | t0004 | g0034 | AFR | ACB | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | KHV | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0077 | EAS | KHV | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02074 | hp1 | a0001 | c0001 | t0002 | g0006 | EAS | KHV | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0028 | EAS | KHV | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0058 | EAS | KHV | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02132 | hp1 | a0001 | c0001 | t0002 | g0144 | EAS | KHV | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0052 | EAS | KHV | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02145 | hp1 | a0001 | c0001 | t0002 | g0115 | AFR | ACB | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02257 | hp1 | a0001 | c0001 | t0008 | g0096 | AFR | ACB | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02257 | hp2 | a0001 | c0001 | t0002 | g0021 | AFR | ACB | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02258 | hp1 | a0001 | c0001 | t0003 | g0139 | AFR | ACB | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02280 | hp1 | a0001 | c0001 | t0003 | g0018 | AFR | ACB | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02280 | hp2 | a0001 | c0001 | t0004 | g0011 | AFR | ACB | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0064 | AMR | PEL | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02451 | hp1 | a0001 | c0001 | t0009 | g0128 | AFR | ACB | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02451 | hp2 | a0001 | c0001 | t0004 | g0010 | AFR | ACB | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02572 | hp1 | a0001 | c0001 | t0003 | g0118 | AFR | GWD | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0038 | SAS | PJL | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02615 | hp1 | a0001 | c0001 | t0003 | g0109 | AFR | GWD | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02615 | hp2 | a0001 | c0001 | t0003 | g0065 | AFR | GWD | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02630 | hp1 | a0001 | c0001 | t0006 | g0013 | AFR | GWD | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02630 | hp2 | a0001 | c0001 | t0005 | g0152 | AFR | GWD | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02647 | hp1 | a0001 | c0001 | t0006 | g0106 | AFR | GWD | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02683 | hp1 | a0001 | c0001 | t0016 | g0119 | SAS | PJL | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0146 | SAS | PJL | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0039 | SAS | PJL | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02717 | hp1 | a0001 | c0001 | t0005 | g0136 | AFR | GWD | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02723 | hp1 | a0001 | c0001 | t0003 | g0101 | AFR | GWD | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02723 | hp2 | a0001 | c0001 | t0003 | g0113 | AFR | GWD | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02735 | hp1 | a0001 | c0003 | t0010 | g0085 | SAS | PJL | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0048 | SAS | PJL | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02809 | hp1 | a0001 | c0001 | t0003 | g0020 | AFR | GWD | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02809 | hp2 | a0001 | c0001 | t0019 | g0003 | AFR | GWD | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02818 | hp1 | a0001 | c0001 | t0005 | g0137 | AFR | GWD | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02818 | hp2 | a0001 | c0001 | t0008 | g0112 | AFR | GWD | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02886 | hp1 | a0003 | c0004 | t0014 | g0102 | AFR | GWD | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02886 | hp2 | a0001 | c0001 | t0006 | g0105 | AFR | GWD | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02895 | hp1 | a0001 | c0001 | t0030 | g0155 | AFR | GWD | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02922 | hp1 | a0001 | c0001 | t0002 | g0114 | AFR | ESN | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02922 | hp2 | a0001 | c0001 | t0004 | g0012 | AFR | ESN | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02965 | hp1 | a0001 | c0001 | t0002 | g0131 | AFR | ESN | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02976 | hp1 | a0001 | c0001 | t0005 | g0138 | AFR | ESN | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02976 | hp2 | a0001 | c0001 | t0003 | g0111 | AFR | ESN | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0080 | SAS | PJL | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG03098 | hp1 | a0001 | c0001 | t0002 | g0014 | AFR | MSL | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG03130 | hp1 | a0001 | c0001 | t0007 | g0032 | AFR | ESN | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG03139 | hp1 | a0001 | c0001 | t0002 | g0130 | AFR | ESN | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG03209 | hp1 | a0001 | c0001 | t0004 | g0094 | AFR | MSL | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG03225 | hp1 | a0001 | c0001 | t0002 | g0126 | AFR | MSL | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0143 | SAS | PJL | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG03492 | hp1 | a0001 | c0001 | t0003 | g0081 | SAS | PJL | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG03516 | hp1 | a0001 | c0001 | t0004 | g0095 | AFR | ESN | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG03516 | hp2 | a0001 | c0001 | t0002 | g0108 | AFR | ESN | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG03540 | hp1 | a0001 | c0001 | t0002 | g0127 | AFR | GWD | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG03540 | hp2 | a0001 | c0001 | t0005 | g0110 | AFR | GWD | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG03579 | hp1 | a0001 | c0001 | t0002 | g0116 | AFR | MSL | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG03688 | hp1 | a0001 | c0003 | t0010 | g0089 | SAS | STU | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0082 | SAS | PJL | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0044 | SAS | BEB | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG04115 | hp1 | a0001 | c0001 | t0023 | g0037 | SAS | STU | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG04199 | hp1 | a0001 | c0001 | t0003 | g0063 | SAS | STU | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0153 | SAS | STU | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18522 | hp1 | a0001 | c0001 | t0003 | g0151 | AFR | YRI | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18612 | hp1 | a0001 | c0001 | t0002 | g0124 | EAS | CHB | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0043 | EAS | CHB | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18906 | hp1 | a0001 | c0001 | t0004 | g0026 | AFR | YRI | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18906 | hp2 | a0001 | c0001 | t0002 | g0135 | AFR | YRI | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18943 | hp1 | a0001 | c0001 | t0025 | g0087 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0049 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18948 | hp1 | a0001 | c0001 | t0002 | g0083 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0067 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0092 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18962 | hp1 | a0001 | c0001 | t0029 | g0031 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0040 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0140 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0097 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18974 | hp1 | a0001 | c0001 | t0001 | g0053 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0075 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18982 | hp1 | a0001 | c0001 | t0011 | g0061 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18983 | hp1 | a0001 | c0001 | t0002 | g0055 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18986 | hp1 | a0001 | c0001 | t0002 | g0054 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18988 | hp1 | a0001 | c0001 | t0001 | g0029 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0066 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0027 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA19000 | hp1 | a0001 | c0001 | t0024 | g0007 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0015 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0041 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0062 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA19012 | hp1 | a0001 | c0001 | t0002 | g0057 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA19030 | hp1 | a0001 | c0001 | t0007 | g0033 | AFR | LWK | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA19030 | hp2 | a0001 | c0001 | t0007 | g0022 | AFR | LWK | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA19043 | hp1 | a0001 | c0001 | t0003 | g0122 | AFR | LWK | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0070 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0086 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0068 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0073 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA19070 | hp1 | a0001 | c0001 | t0028 | g0084 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0045 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0078 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0079 | EUR | TSI | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0149 | EUR | TSI | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA20905 | hp1 | a0001 | c0001 | t0026 | g0056 | SAS | GIH | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02109 | hp1 | a0001 | c0001 | t0004 | g0004 | AFR | ACB | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02109 | hp2 | a0001 | c0001 | t0002 | g0019 | AFR | ACB | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02486 | hp1 | a0001 | c0001 | t0005 | g0107 | AFR | ACB | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02559 | hp1 | a0001 | c0001 | t0007 | g0023 | AFR | ACB | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG02559 | hp2 | a0001 | c0001 | t0002 | g0134 | AFR | ACB | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| HG03471 | hp1 | a0001 | c0001 | t0021 | g0150 | AFR | MSL | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0098 | EAS | JPT | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| homoSapiens_chm13v2 | hp1 | a0002 | c0002 | t0003 | g0001 | REF | REF | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0142 | REF | REF | OPHN1_chrX_68037344_68438495 | OPHN1 | chrX | 68037344 | 68438495 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:68052588
|
A | C | 1 | a0004 | 1 | HG01169.hp2 | missense_variant&splice_region_variant | MODERATE | c.2327T>G | p.Val776Gly | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/25 | 2659/7569 | 2327/2409 | 776/802 | chrX | 68052588 | ||
| chrX:68053689
|
CT | C | 1 | a0004 | 1 | HG01169.hp2 | frameshift_variant | HIGH | c.2279delA | p.Lys760fs | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 22/25 | 2611/7569 | 2279/2409 | 760/802 | chrX | 68053689 | ||
| chrX:68053705
|
TG | T | 1 | a0004 | 1 | HG01169.hp2 | frameshift_variant | HIGH | c.2263delC | p.Gln755fs | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 22/25 | 2595/7569 | 2263/2409 | 755/802 | chrX | 68053705 | ||
| chrX:68063933
|
C | T | 1 | a0003 | 1 | HG02886.hp1 | missense_variant | MODERATE | c.2079G>A | p.Met693Ile | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/25 | 2411/7569 | 2079/2409 | 693/802 | chrX | 68063933 | ||
| chrX:68432906
|
C | T | 1 | a0002 | 2 | HG01358.hp1 homoSapiens_chm13v2.hp1 |
missense_variant | MODERATE | c.115G>A | p.Val39Ile | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/25 | 447/7569 | 115/2409 | 39/802 | chrX | 68432906 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:68213880
|
C | T | 1 | a0001c0003 | 2 | HG02735.hp1 HG03688.hp1 |
synonymous_variant | LOW | c.579G>A | p.Lys193Lys | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 7/25 | 911/7569 | 579/2409 | 193/802 | chrX | 68213880 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:68042543
|
A | G | 1 | a0001c0001t0025 | 1 | NA18943.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4629T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 5881 | chrX | 68042543 | |||||
| chrX:68042602
|
C | CA | 1 | a0004c0005t0012 | 1 | HG01169.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4569dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 5821 | chrX | 68042602 | |||||
| chrX:68042665
|
T | C | 1 | a0001c0001t0020 | 1 | HG00738.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4507A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 5759 | chrX | 68042665 | |||||
| chrX:68042814
|
G | A | 1 | a0001c0003t0010 | 2 | HG02735.hp1 HG03688.hp1 |
3_prime_UTR_variant | MODIFIER | c.*4358C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 5610 | chrX | 68042814 | |||||
| chrX:68042887
|
G | C | 1 | a0001c0001t0021 | 1 | HG03471.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4285C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 5537 | chrX | 68042887 | |||||
| chrX:68043061
|
A | G | 1 | a0001c0001t0028 | 1 | NA19070.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4111T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 5363 | chrX | 68043061 | |||||
| chrX:68043093
|
C | T | 2 | a0001c0001t0015a0001c0001t0017 | 2 | HG01943.hp1 HG01952.hp1 |
3_prime_UTR_variant | MODIFIER | c.*4079G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 5331 | chrX | 68043093 | |||||
| chrX:68043122
|
C | CA | 1 | a0004c0005t0012 | 1 | HG01169.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4049dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 5301 | chrX | 68043122 | |||||
| chrX:68043233
|
A | AG | 2 | a0001c0001t0024a0004c0005t0012 | 2 | HG01169.hp2 NA19000.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3938dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 5190 | chrX | 68043233 | |||||
| chrX:68043378
|
AAG | A | 2 | a0001c0001t0015a0001c0001t0016 | 2 | HG01943.hp1 HG02683.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3792_*3793delCT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 5044 | chrX | 68043378 | |||||
| chrX:68043379
|
AG | A | 10 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(7): Show | 44 | HG00673.hp1 HG01081.hp1 HG01167.hp1 others(41): Show |
3_prime_UTR_variant | MODIFIER | c.*3792delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 5044 | chrX | 68043379 | |||||
| chrX:68043380
|
G | A | 7 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(4): Show | 27 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(24): Show |
3_prime_UTR_variant | MODIFIER | c.*3792C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 5044 | chrX | 68043380 | |||||
| chrX:68043380
|
G | GA | 1 | a0001c0001t0026 | 1 | NA20905.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3791dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 5043 | chrX | 68043380 | |||||
| chrX:68043387
|
A | AG | 1 | a0001c0001t0013 | 1 | HG01346.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3784_*3785insC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 5036 | chrX | 68043387 | |||||
| chrX:68043387
|
A | G | 7 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(4): Show | 28 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(25): Show |
3_prime_UTR_variant | MODIFIER | c.*3785T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 5037 | chrX | 68043387 | |||||
| chrX:68043451
|
A | G | 23 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(20): Show | 87 | HG00099.hp2 HG00673.hp1 HG00735.hp2 others(84): Show |
3_prime_UTR_variant | MODIFIER | c.*3721T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 4973 | chrX | 68043451 | |||||
| chrX:68043529
|
A | AT | 1 | a0001c0001t0023 | 1 | HG04115.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3642dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 4894 | chrX | 68043529 | |||||
| chrX:68043546
|
G | A | 1 | a0001c0001t0027 | 1 | HG00099.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3626C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 4878 | chrX | 68043546 | |||||
| chrX:68043637
|
T | C | 10 | a0001c0001t0002a0001c0001t0011a0001c0001t0015others(7): Show | 34 | HG00280.hp1 HG00673.hp1 HG01081.hp1 others(31): Show |
3_prime_UTR_variant | MODIFIER | c.*3535A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 4787 | chrX | 68043637 | |||||
| chrX:68044002
|
C | T | 22 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(19): Show | 86 | HG00099.hp2 HG00280.hp1 HG00673.hp1 others(83): Show |
3_prime_UTR_variant | MODIFIER | c.*3170G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 4422 | chrX | 68044002 | |||||
| chrX:68044910
|
T | A | 1 | a0003c0004t0014 | 1 | HG02886.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2262A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 3514 | chrX | 68044910 | |||||
| chrX:68044954
|
A | G | 1 | a0001c0001t0005 | 6 | HG02486.hp1 HG02630.hp2 HG02717.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*2218T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 3470 | chrX | 68044954 | |||||
| chrX:68045348
|
A | G | 1 | a0001c0001t0019 | 1 | HG02809.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1824T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 3076 | chrX | 68045348 | |||||
| chrX:68045575
|
G | T | 16 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(13): Show | 69 | HG00099.hp2 HG00280.hp1 HG00673.hp1 others(66): Show |
3_prime_UTR_variant | MODIFIER | c.*1597C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 2849 | chrX | 68045575 | |||||
| chrX:68046046
|
A | AT | 1 | a0004c0005t0012 | 1 | HG01169.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1125dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 2377 | chrX | 68046046 | |||||
| chrX:68046073
|
C | CT | 8 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(5): Show | 29 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(26): Show |
3_prime_UTR_variant | MODIFIER | c.*1098dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 2350 | chrX | 68046073 | |||||
| chrX:68046217
|
CT | C | 1 | a0004c0005t0012 | 1 | HG01169.hp2 | 3_prime_UTR_variant | MODIFIER | c.*954delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 2206 | chrX | 68046217 | |||||
| chrX:68046364
|
TTA | T | 1 | a0004c0005t0012 | 1 | HG01169.hp2 | 3_prime_UTR_variant | MODIFIER | c.*806_*807delTA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 2058 | chrX | 68046364 | |||||
| chrX:68046659
|
A | C | 1 | a0001c0001t0007 | 4 | HG02559.hp1 HG03130.hp1 NA19030.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*513T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 1765 | chrX | 68046659 | |||||
| chrX:68046762
|
A | AC | 1 | a0004c0005t0012 | 1 | HG01169.hp2 | 3_prime_UTR_variant | MODIFIER | c.*409dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 1661 | chrX | 68046762 | |||||
| chrX:68047159
|
A | C | 1 | a0001c0001t0011 | 1 | NA18982.hp1 | 3_prime_UTR_variant | MODIFIER | c.*13T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 25/25 | 1265 | chrX | 68047159 | |||||
| chrX:68433387
|
T | C | 1 | a0001c0001t0030 | 1 | HG02895.hp1 | 5_prime_UTR_variant | MODIFIER | c.-224A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 1/25 | 367 | chrX | 68433387 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:68047219
|
G | GC | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.*9-57dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 24/24 | chrX | 68047219 | ||||||
| chrX:68047320
|
C | CA | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.*9-158dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 24/24 | chrX | 68047320 | ||||||
| chrX:68047396
|
T | A | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.*9-233A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 24/24 | chrX | 68047396 | ||||||
| chrX:68047767
|
C | G | 2 | a0001c0001t0008g0096a0001c0001t0008g0112 | 2 | HG02257.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.*9-604G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 24/24 | chrX | 68047767 | ||||||
| chrX:68047789
|
AT | A | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.*8+626delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 24/24 | chrX | 68047789 | ||||||
| chrX:68047835
|
G | A | 1 | a0001c0001t0001g0038 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.*8+581C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 24/24 | chrX | 68047835 | ||||||
| chrX:68047867
|
G | C | 2 | a0001c0001t0004g0005a0001c0001t0020g0099 | 2 | HG00735.hp2 HG00738.hp1 |
intron_variant | MODIFIER | c.*8+549C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 24/24 | chrX | 68047867 | ||||||
| chrX:68047933
|
G | C | 1 | a0001c0001t0001g0140 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.*8+483C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 24/24 | chrX | 68047933 | ||||||
| chrX:68047997
|
T | C | 51 | a0001c0001t0001g0077a0001c0001t0002g0006a0001c0001t0002g0014others(48): Show | 51 | HG00280.hp1 HG00673.hp1 HG01081.hp1 others(48): Show |
intron_variant | MODIFIER | c.*8+419A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 24/24 | chrX | 68047997 | ||||||
| chrX:68048146
|
AT | A | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.*8+269delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 24/24 | chrX | 68048146 | ||||||
| chrX:68048175
|
T | C | 51 | a0001c0001t0001g0077a0001c0001t0002g0006a0001c0001t0002g0014others(48): Show | 51 | HG00280.hp1 HG00673.hp1 HG01081.hp1 others(48): Show |
intron_variant | MODIFIER | c.*8+241A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 24/24 | chrX | 68048175 | ||||||
| chrX:68048517
|
T | TG | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2376-61dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68048517 | ||||||
| chrX:68048534
|
C | A | 31 | a0001c0001t0002g0006a0001c0001t0002g0014a0001c0001t0002g0019others(28): Show | 31 | HG00280.hp1 HG00673.hp1 HG01081.hp1 others(28): Show |
intron_variant | MODIFIER | c.2376-77G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68048534 | ||||||
| chrX:68049061
|
TG | T | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2376-605delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68049061 | ||||||
| chrX:68049127
|
T | C | 2 | a0001c0001t0001g0045a0001c0001t0001g0078 | 2 | NA19085.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.2376-670A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68049127 | ||||||
| chrX:68049278
|
T | TA | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2376-822dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68049278 | ||||||
| chrX:68049286
|
T | G | 15 | a0001c0001t0003g0018a0001c0001t0003g0020a0001c0001t0003g0035others(12): Show | 15 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(12): Show |
intron_variant | MODIFIER | c.2376-829A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68049286 | ||||||
| chrX:68049311
|
T | TC | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2376-855dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68049311 | ||||||
| chrX:68049339
|
C | CG | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2376-883_2376-882i others(3): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68049339 | ||||||
| chrX:68049525
|
A | AG | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2376-1069dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68049525 | ||||||
| chrX:68049586
|
T | TC | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2376-1130dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68049586 | ||||||
| chrX:68049879
|
C | CG | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2376-1423_2376-142 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68049879 | ||||||
| chrX:68049895
|
T | C | 1 | a0001c0001t0003g0065 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.2376-1438A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68049895 | ||||||
| chrX:68049960
|
A | AG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2376-1504dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68049960 | ||||||
| chrX:68049969
|
T | C | 53 | a0001c0001t0001g0077a0001c0001t0002g0006a0001c0001t0002g0014others(50): Show | 53 | HG00280.hp1 HG00673.hp1 HG00738.hp1 others(50): Show |
intron_variant | MODIFIER | c.2376-1512A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68049969 | ||||||
| chrX:68049981
|
G | A | 10 | a0001c0001t0005g0110a0001c0001t0005g0136a0001c0001t0005g0137others(7): Show | 10 | HG01167.hp1 HG01169.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.2376-1524C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68049981 | ||||||
| chrX:68050301
|
T | A | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2376-1844A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68050301 | ||||||
| chrX:68050472
|
GC | G | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2376-2016delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68050472 | ||||||
| chrX:68050813
|
C | T | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2375+1727G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68050813 | ||||||
| chrX:68051422
|
A | G | 1 | a0001c0001t0003g0035 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.2375+1118T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68051422 | ||||||
| chrX:68051493
|
G | A | 2 | a0001c0003t0010g0085a0001c0003t0010g0089 | 2 | HG02735.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.2375+1047C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68051493 | ||||||
| chrX:68051695
|
TA | T | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2375+844delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68051695 | ||||||
| chrX:68051980
|
GA | G | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2375+559delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68051980 | ||||||
| chrX:68052028
|
G | GC | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2375+511dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68052028 | ||||||
| chrX:68052289
|
C | CA | 78 | a0001c0001t0001g0077a0001c0001t0002g0006a0001c0001t0002g0019others(75): Show | 78 | HG00280.hp1 HG00673.hp1 HG00735.hp2 others(75): Show |
intron_variant | MODIFIER | c.2375+250dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68052289 | ||||||
| chrX:68052289
|
C | CAA | 5 | a0001c0001t0002g0014a0001c0001t0003g0081a0001c0001t0003g0091others(2): Show | 5 | HG00099.hp2 HG01106.hp1 HG02683.hp1 others(2): Show |
intron_variant | MODIFIER | c.2375+249_2375+250d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68052289 | ||||||
| chrX:68052289
|
CA | C | 6 | a0001c0001t0001g0025a0001c0001t0001g0145a0001c0001t0004g0010others(3): Show | 6 | HG01169.hp2 HG01515.hp1 HG02280.hp2 others(3): Show |
intron_variant | MODIFIER | c.2375+250delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68052289 | ||||||
| chrX:68052400
|
T | TG | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2375+139dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68052400 | ||||||
| chrX:68052511
|
G | GT | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2375+28dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 23/24 | chrX | 68052511 | ||||||
| chrX:68053223
|
A | T | 75 | a0001c0001t0001g0077a0001c0001t0002g0006a0001c0001t0002g0014others(72): Show | 75 | HG00099.hp2 HG00280.hp1 HG00673.hp1 others(72): Show |
intron_variant | MODIFIER | c.2324+422T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 22/24 | chrX | 68053223 | ||||||
| chrX:68053226
|
T | TA | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2324+418dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 22/24 | chrX | 68053226 | ||||||
| chrX:68053301
|
T | TA | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2324+343dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 22/24 | chrX | 68053301 | ||||||
| chrX:68053325
|
AT | A | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2324+319delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 22/24 | chrX | 68053325 | ||||||
| chrX:68053332
|
T | A | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2324+313A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 22/24 | chrX | 68053332 | ||||||
| chrX:68053514
|
A | AT | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2324+130dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 22/24 | chrX | 68053514 | ||||||
| chrX:68053870
|
A | AG | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2159-61dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68053870 | ||||||
| chrX:68053912
|
G | GGC | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2159-103_2159-102i others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68053912 | ||||||
| chrX:68053948
|
A | AT | 9 | a0001c0001t0003g0065a0001c0001t0003g0109a0001c0001t0003g0122others(6): Show | 9 | HG01243.hp1 HG02258.hp1 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.2159-139dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68053948 | ||||||
| chrX:68053948
|
A | ATT | 26 | a0001c0001t0003g0081a0001c0001t0003g0091a0001c0001t0003g0101others(23): Show | 26 | HG00099.hp2 HG01081.hp2 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.2159-140_2159-139d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68053948 | ||||||
| chrX:68053948
|
A | ATTT | 41 | a0001c0001t0001g0077a0001c0001t0002g0006a0001c0001t0002g0014others(38): Show | 41 | HG00280.hp1 HG00673.hp1 HG01099.hp1 others(38): Show |
intron_variant | MODIFIER | c.2159-141_2159-139d others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68053948 | ||||||
| chrX:68053948
|
A | ATTTT | 2 | a0001c0001t0003g0063a0001c0001t0022g0103 | 2 | HG01081.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.2159-142_2159-139d others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68053948 | ||||||
| chrX:68053948
|
AT | A | 2 | a0001c0001t0004g0012a0004c0005t0012g0024 | 2 | HG01169.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.2159-139delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68053948 | ||||||
| chrX:68053967
|
A | AT | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.2159-158dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68053967 | ||||||
| chrX:68054042
|
T | C | 1 | a0001c0001t0001g0143 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.2159-232A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68054042 | ||||||
| chrX:68054335
|
T | C | 1 | a0001c0001t0003g0139 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2159-525A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68054335 | ||||||
| chrX:68054438
|
C | T | 1 | a0001c0001t0004g0034 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2159-628G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68054438 | ||||||
| chrX:68054491
|
G | T | 1 | a0001c0001t0003g0109 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.2159-681C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68054491 | ||||||
| chrX:68054627
|
T | C | 53 | a0001c0001t0001g0077a0001c0001t0002g0006a0001c0001t0002g0014others(50): Show | 53 | HG00280.hp1 HG00673.hp1 HG00738.hp1 others(50): Show |
intron_variant | MODIFIER | c.2159-817A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68054627 | ||||||
| chrX:68054705
|
T | C | 1 | a0001c0001t0003g0139 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2159-895A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68054705 | ||||||
| chrX:68054852
|
G | A | 1 | a0002c0002t0001g0002 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.2159-1042C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68054852 | ||||||
| chrX:68055061
|
C | T | 1 | a0001c0001t0001g0045 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.2159-1251G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68055061 | ||||||
| chrX:68055583
|
C | A | 1 | a0001c0001t0001g0046 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.2159-1773G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68055583 | ||||||
| chrX:68055780
|
AG | A | 1 | a0001c0001t0001g0044 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.2159-1971delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68055780 | ||||||
| chrX:68055874
|
G | A | 32 | a0001c0001t0002g0006a0001c0001t0002g0014a0001c0001t0002g0019others(29): Show | 32 | HG00280.hp1 HG00673.hp1 HG01081.hp1 others(29): Show |
intron_variant | MODIFIER | c.2159-2064C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68055874 | ||||||
| chrX:68056096
|
A | G | 83 | a0001c0001t0002g0006a0001c0001t0002g0014a0001c0001t0002g0019others(80): Show | 83 | HG00099.hp2 HG00280.hp1 HG00673.hp1 others(80): Show |
intron_variant | MODIFIER | c.2159-2286T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68056096 | ||||||
| chrX:68056375
|
C | T | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2159-2565G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68056375 | ||||||
| chrX:68056581
|
C | A | 81 | a0001c0001t0002g0006a0001c0001t0002g0014a0001c0001t0002g0019others(78): Show | 81 | HG00099.hp2 HG00280.hp1 HG00673.hp1 others(78): Show |
intron_variant | MODIFIER | c.2159-2771G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68056581 | ||||||
| chrX:68056706
|
GAATA | G | 1 | a0001c0001t0015g0148 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.2159-2900_2159-289 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68056706 | ||||||
| chrX:68057233
|
C | A | 50 | a0001c0001t0002g0006a0001c0001t0002g0014a0001c0001t0002g0019others(47): Show | 50 | HG00280.hp1 HG00673.hp1 HG00738.hp1 others(47): Show |
intron_variant | MODIFIER | c.2159-3423G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68057233 | ||||||
| chrX:68057747
|
T | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2159-3937A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68057747 | ||||||
| chrX:68057805
|
A | C | 81 | a0001c0001t0001g0077a0001c0001t0002g0006a0001c0001t0002g0014others(78): Show | 81 | HG00099.hp2 HG00280.hp1 HG00673.hp1 others(78): Show |
intron_variant | MODIFIER | c.2159-3995T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68057805 | ||||||
| chrX:68057908
|
T | C | 3 | a0001c0001t0004g0004a0001c0001t0009g0128a0001c0001t0009g0129 | 3 | HG01243.hp1 HG02109.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.2159-4098A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68057908 | ||||||
| chrX:68058206
|
C | T | 1 | a0001c0001t0002g0125 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.2159-4396G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68058206 | ||||||
| chrX:68058259
|
A | AAC | 21 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0050others(18): Show | 21 | HG00609.hp1 HG00621.hp1 HG01081.hp2 others(18): Show |
intron_variant | MODIFIER | c.2159-4451_2159-445 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68058259 | ||||||
| chrX:68058259
|
A | AACAC | 1 | a0001c0001t0001g0086 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.2159-4453_2159-445 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68058259 | ||||||
| chrX:68058259
|
A | AACACAC | 9 | a0001c0001t0004g0094a0001c0001t0004g0095a0001c0001t0004g0117others(6): Show | 9 | HG01891.hp2 HG02630.hp1 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.2159-4455_2159-445 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68058259 | ||||||
| chrX:68058259
|
AAC | A | 7 | a0001c0001t0003g0118a0001c0001t0003g0122a0001c0001t0003g0139others(4): Show | 7 | HG02258.hp1 HG02559.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.2159-4451_2159-445 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68058259 | ||||||
| chrX:68058259
|
AACAC | A | 18 | a0001c0001t0003g0018a0001c0001t0003g0020a0001c0001t0003g0035others(15): Show | 18 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(15): Show |
intron_variant | MODIFIER | c.2159-4453_2159-445 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68058259 | ||||||
| chrX:68058259
|
AACACAC | A | 1 | a0001c0001t0008g0096 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.2159-4455_2159-445 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68058259 | ||||||
| chrX:68058306
|
C | T | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2159-4496G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68058306 | ||||||
| chrX:68058317
|
G | A | 2 | a0001c0001t0003g0081a0001c0001t0003g0091 | 2 | HG00099.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.2159-4507C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68058317 | ||||||
| chrX:68058383
|
T | C | 79 | a0001c0001t0001g0077a0001c0001t0002g0006a0001c0001t0002g0014others(76): Show | 79 | HG00099.hp2 HG00280.hp1 HG00673.hp1 others(76): Show |
intron_variant | MODIFIER | c.2159-4573A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68058383 | ||||||
| chrX:68058827
|
GAACT | G | 1 | a0001c0001t0003g0035 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.2159-5021_2159-501 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68058827 | ||||||
| chrX:68058869
|
A | G | 53 | a0001c0001t0001g0077a0001c0001t0002g0006a0001c0001t0002g0014others(50): Show | 53 | HG00280.hp1 HG00673.hp1 HG00738.hp1 others(50): Show |
intron_variant | MODIFIER | c.2158+4985T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68058869 | ||||||
| chrX:68058998
|
C | T | 26 | a0001c0001t0003g0018a0001c0001t0003g0020a0001c0001t0003g0035others(23): Show | 26 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(23): Show |
intron_variant | MODIFIER | c.2158+4856G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68058998 | ||||||
| chrX:68059525
|
T | A | 1 | a0001c0001t0001g0075 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.2158+4329A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68059525 | ||||||
| chrX:68059548
|
G | A | 3 | a0001c0001t0001g0041a0001c0001t0001g0092a0001c0001t0024g0007 | 3 | NA18960.hp1 NA19000.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.2158+4306C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68059548 | ||||||
| chrX:68060060
|
G | C | 1 | a0001c0001t0001g0058 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.2158+3794C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68060060 | ||||||
| chrX:68060265
|
C | T | 1 | a0001c0001t0001g0040 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.2158+3589G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68060265 | ||||||
| chrX:68060270
|
C | T | 1 | a0001c0001t0001g0025 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.2158+3584G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68060270 | ||||||
| chrX:68060539
|
C | T | 69 | a0001c0001t0001g0077a0001c0001t0002g0006a0001c0001t0002g0014others(66): Show | 69 | HG00099.hp2 HG00280.hp1 HG00673.hp1 others(66): Show |
intron_variant | MODIFIER | c.2158+3315G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68060539 | ||||||
| chrX:68060776
|
T | TG | 1 | a0001c0001t0002g0047 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2158+3077dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68060776 | ||||||
| chrX:68060806
|
C | G | 1 | a0001c0001t0001g0048 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2158+3048G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68060806 | ||||||
| chrX:68060931
|
CT | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2158+2922delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68060931 | ||||||
| chrX:68061375
|
C | T | 25 | a0001c0001t0003g0018a0001c0001t0003g0020a0001c0001t0003g0035others(22): Show | 25 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(22): Show |
intron_variant | MODIFIER | c.2158+2479G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68061375 | ||||||
| chrX:68061626
|
T | C | 82 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(79): Show | 82 | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(79): Show |
intron_variant | MODIFIER | c.2158+2228A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68061626 | ||||||
| chrX:68061755
|
G | A | 25 | a0001c0001t0003g0018a0001c0001t0003g0020a0001c0001t0003g0035others(22): Show | 25 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(22): Show |
intron_variant | MODIFIER | c.2158+2099C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68061755 | ||||||
| chrX:68061821
|
T | C | 124 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(121): Show | 124 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(121): Show |
intron_variant | MODIFIER | c.2158+2033A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68061821 | ||||||
| chrX:68062114
|
T | G | 124 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(121): Show | 124 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(121): Show |
intron_variant | MODIFIER | c.2158+1740A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68062114 | ||||||
| chrX:68062427
|
CA | C | 1 | a0001c0003t0010g0089 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.2158+1426delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68062427 | ||||||
| chrX:68062707
|
T | C | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2158+1147A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68062707 | ||||||
| chrX:68063193
|
A | T | 13 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(10): Show | 13 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.2158+661T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68063193 | ||||||
| chrX:68063197
|
A | C | 3 | a0001c0001t0002g0123a0001c0001t0003g0139a0001c0001t0007g0032 | 3 | HG02027.hp1 HG02258.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2158+657T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68063197 | ||||||
| chrX:68063209
|
C | CA | 3 | a0001c0001t0002g0134a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02559.hp2 HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.2158+644dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68063209 | ||||||
| chrX:68063209
|
CA | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2158+644delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68063209 | ||||||
| chrX:68063213
|
A | C | 1 | a0001c0001t0003g0020 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2158+641T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68063213 | ||||||
| chrX:68063520
|
CA | C | 1 | a0001c0001t0002g0057 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.2158+333delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68063520 | ||||||
| chrX:68063531
|
A | C | 2 | a0001c0001t0003g0035a0001c0001t0003g0100 | 2 | HG01099.hp1 HG01106.hp1 |
intron_variant | MODIFIER | c.2158+323T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68063531 | ||||||
| chrX:68063690
|
G | C | 1 | a0001c0001t0004g0094 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2158+164C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 21/24 | chrX | 68063690 | ||||||
| chrX:68064251
|
A | G | 3 | a0001c0001t0001g0041a0001c0001t0001g0092a0001c0001t0024g0007 | 3 | NA18960.hp1 NA19000.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.1835-74T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68064251 | ||||||
| chrX:68064271
|
G | T | 4 | a0001c0001t0003g0076a0001c0001t0003g0100a0001c0001t0013g0042others(1): Show | 4 | HG01106.hp1 HG01192.hp1 HG01346.hp2 others(1): Show |
intron_variant | MODIFIER | c.1835-94C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68064271 | ||||||
| chrX:68064911
|
C | T | 2 | a0001c0001t0001g0048a0001c0001t0001g0050 | 2 | HG00609.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.1835-734G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68064911 | ||||||
| chrX:68065147
|
T | TA | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1835-971dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68065147 | ||||||
| chrX:68065239
|
A | T | 118 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(115): Show | 118 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(115): Show |
intron_variant | MODIFIER | c.1835-1062T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68065239 | ||||||
| chrX:68065677
|
C | T | 1 | a0001c0001t0001g0045 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.1835-1500G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68065677 | ||||||
| chrX:68065720
|
A | C | 1 | a0001c0001t0002g0021 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1835-1543T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68065720 | ||||||
| chrX:68066059
|
A | G | 1 | a0001c0001t0001g0044 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1835-1882T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68066059 | ||||||
| chrX:68066129
|
T | C | 79 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(76): Show | 79 | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(76): Show |
intron_variant | MODIFIER | c.1835-1952A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68066129 | ||||||
| chrX:68066225
|
C | A | 24 | a0001c0001t0003g0018a0001c0001t0003g0020a0001c0001t0003g0035others(21): Show | 24 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(21): Show |
intron_variant | MODIFIER | c.1835-2048G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68066225 | ||||||
| chrX:68066881
|
G | A | 2 | a0001c0001t0002g0054a0001c0001t0002g0055 | 2 | NA18983.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.1835-2704C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68066881 | ||||||
| chrX:68066999
|
G | A | 24 | a0001c0001t0003g0018a0001c0001t0003g0020a0001c0001t0003g0035others(21): Show | 24 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(21): Show |
intron_variant | MODIFIER | c.1835-2822C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68066999 | ||||||
| chrX:68067317
|
A | C | 26 | a0001c0001t0003g0018a0001c0001t0003g0020a0001c0001t0003g0035others(23): Show | 26 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(23): Show |
intron_variant | MODIFIER | c.1835-3140T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68067317 | ||||||
| chrX:68067495
|
T | G | 154 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(151): Show | 154 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
intron_variant | MODIFIER | c.1835-3318A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68067495 | ||||||
| chrX:68067732
|
G | A | 3 | a0001c0001t0004g0030a0001c0001t0004g0034a0001c0001t0021g0150 | 3 | HG01081.hp2 HG02055.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1835-3555C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68067732 | ||||||
| chrX:68067910
|
T | A | 4 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0114others(1): Show | 4 | HG02109.hp2 HG02145.hp1 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.1835-3733A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68067910 | ||||||
| chrX:68068011
|
A | G | 14 | a0001c0001t0003g0018a0001c0001t0003g0020a0001c0001t0003g0035others(11): Show | 14 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(11): Show |
intron_variant | MODIFIER | c.1835-3834T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68068011 | ||||||
| chrX:68068313
|
T | C | 19 | a0001c0001t0002g0134a0001c0001t0004g0026a0001c0001t0004g0030others(16): Show | 19 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(16): Show |
intron_variant | MODIFIER | c.1835-4136A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68068313 | ||||||
| chrX:68068365
|
G | A | 17 | a0001c0001t0001g0015a0001c0001t0002g0006a0001c0001t0002g0047others(14): Show | 17 | HG00280.hp1 HG00673.hp1 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.1835-4188C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68068365 | ||||||
| chrX:68068452
|
C | A | 1 | a0001c0001t0001g0067 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.1835-4275G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68068452 | ||||||
| chrX:68068470
|
C | CA | 73 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(70): Show | 73 | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(70): Show |
intron_variant | MODIFIER | c.1835-4294dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68068470 | ||||||
| chrX:68068470
|
C | CAA | 21 | a0001c0001t0001g0053a0001c0001t0001g0062a0001c0001t0001g0140others(18): Show | 21 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(18): Show |
intron_variant | MODIFIER | c.1835-4295_1835-429 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68068470 | ||||||
| chrX:68068470
|
C | CAAA | 1 | a0001c0001t0003g0020 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1835-4296_1835-429 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68068470 | ||||||
| chrX:68068470
|
CA | C | 5 | a0001c0001t0004g0005a0001c0001t0004g0010a0001c0001t0004g0011others(2): Show | 5 | HG00735.hp2 HG02280.hp2 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.1835-4294delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68068470 | ||||||
| chrX:68068564
|
C | T | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1835-4387G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68068564 | ||||||
| chrX:68068642
|
C | T | 2 | a0001c0001t0003g0101a0001c0001t0003g0113 | 2 | HG02723.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1835-4465G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68068642 | ||||||
| chrX:68068941
|
T | C | 9 | a0001c0001t0002g0134a0001c0001t0004g0026a0001c0001t0004g0030others(6): Show | 9 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(6): Show |
intron_variant | MODIFIER | c.1834+4211A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68068941 | ||||||
| chrX:68069325
|
T | TA | 2 | a0001c0001t0008g0096a0001c0001t0008g0112 | 2 | HG02257.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.1834+3826dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68069325 | ||||||
| chrX:68069557
|
T | C | 2 | a0001c0001t0001g0080a0001c0001t0023g0037 | 2 | HG03017.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.1834+3595A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68069557 | ||||||
| chrX:68069818
|
G | A | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1834+3334C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68069818 | ||||||
| chrX:68070385
|
A | T | 5 | a0001c0001t0003g0101a0001c0001t0003g0111a0001c0001t0003g0113others(2): Show | 5 | HG02572.hp1 HG02723.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1834+2767T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68070385 | ||||||
| chrX:68070417
|
G | A | 3 | a0001c0001t0004g0010a0001c0001t0004g0011a0001c0001t0004g0012 | 3 | HG02280.hp2 HG02451.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.1834+2735C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68070417 | ||||||
| chrX:68070445
|
T | G | 1 | a0001c0001t0016g0119 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1834+2707A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68070445 | ||||||
| chrX:68070499
|
G | C | 1 | a0001c0001t0001g0082 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1834+2653C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68070499 | ||||||
| chrX:68070944
|
A | G | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1834+2208T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68070944 | ||||||
| chrX:68071221
|
G | C | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1834+1931C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68071221 | ||||||
| chrX:68071546
|
G | T | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1834+1606C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68071546 | ||||||
| chrX:68071640
|
G | A | 1 | a0001c0001t0027g0072 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1834+1512C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68071640 | ||||||
| chrX:68071656
|
G | T | 1 | a0001c0001t0028g0084 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.1834+1496C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68071656 | ||||||
| chrX:68071963
|
A | G | 1 | a0001c0001t0008g0112 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1834+1189T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68071963 | ||||||
| chrX:68072639
|
G | A | 17 | a0001c0001t0001g0015a0001c0001t0002g0006a0001c0001t0002g0047others(14): Show | 17 | HG00280.hp1 HG00673.hp1 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.1834+513C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68072639 | ||||||
| chrX:68072652
|
G | A | 1 | a0001c0001t0003g0109 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1834+500C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 20/24 | chrX | 68072652 | ||||||
| chrX:68073407
|
C | A | 1 | a0001c0001t0002g0019 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1687-108G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68073407 | ||||||
| chrX:68073476
|
G | C | 1 | a0001c0001t0001g0008 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1687-177C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68073476 | ||||||
| chrX:68073491
|
C | T | 5 | a0001c0001t0003g0035a0001c0001t0003g0076a0001c0001t0003g0100others(2): Show | 5 | HG01099.hp1 HG01106.hp1 HG01192.hp1 others(2): Show |
intron_variant | MODIFIER | c.1687-192G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68073491 | ||||||
| chrX:68073975
|
G | A | 2 | a0001c0001t0001g0039a0001c0001t0001g0093 | 2 | HG00735.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.1687-676C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68073975 | ||||||
| chrX:68074135
|
C | G | 1 | a0001c0001t0026g0056 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1687-836G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68074135 | ||||||
| chrX:68074148
|
C | G | 3 | a0001c0001t0004g0030a0001c0001t0004g0034a0001c0001t0021g0150 | 3 | HG01081.hp2 HG02055.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1687-849G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68074148 | ||||||
| chrX:68074163
|
C | G | 1 | a0001c0001t0001g0077 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1687-864G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68074163 | ||||||
| chrX:68074206
|
T | C | 1 | a0001c0001t0017g0036 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1687-907A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68074206 | ||||||
| chrX:68074414
|
C | T | 3 | a0001c0001t0004g0004a0001c0001t0009g0128a0001c0001t0009g0129 | 3 | HG01243.hp1 HG02109.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1687-1115G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68074414 | ||||||
| chrX:68074511
|
G | A | 1 | a0001c0001t0001g0009 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.1687-1212C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68074511 | ||||||
| chrX:68074788
|
A | G | 1 | a0001c0001t0001g0027 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.1687-1489T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68074788 | ||||||
| chrX:68075295
|
C | T | 1 | a0001c0001t0004g0005 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1687-1996G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68075295 | ||||||
| chrX:68075525
|
T | C | 1 | a0001c0001t0001g0077 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1687-2226A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68075525 | ||||||
| chrX:68075565
|
G | A | 1 | a0001c0001t0001g0066 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1687-2266C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68075565 | ||||||
| chrX:68075779
|
C | CA | 4 | a0001c0001t0002g0021a0001c0001t0002g0116a0001c0001t0007g0022others(1): Show | 4 | HG01952.hp1 HG02257.hp2 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.1687-2481dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68075779 | ||||||
| chrX:68075779
|
CA | C | 87 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(84): Show | 87 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(84): Show |
intron_variant | MODIFIER | c.1687-2481delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68075779 | ||||||
| chrX:68075779
|
CAA | C | 6 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0053others(3): Show | 6 | NA18747.hp1 NA18952.hp1 NA18960.hp1 others(3): Show |
intron_variant | MODIFIER | c.1687-2482_1687-248 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68075779 | ||||||
| chrX:68075793
|
A | C | 1 | a0001c0001t0001g0008 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1687-2494T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68075793 | ||||||
| chrX:68075898
|
C | G | 2 | a0001c0001t0004g0005a0001c0001t0019g0003 | 2 | HG00735.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1687-2599G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68075898 | ||||||
| chrX:68076286
|
T | C | 24 | a0001c0001t0003g0018a0001c0001t0003g0020a0001c0001t0003g0035others(21): Show | 24 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(21): Show |
intron_variant | MODIFIER | c.1687-2987A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68076286 | ||||||
| chrX:68076539
|
T | C | 1 | a0001c0001t0001g0044 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1687-3240A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68076539 | ||||||
| chrX:68077012
|
G | A | 68 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(65): Show | 68 | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(65): Show |
intron_variant | MODIFIER | c.1687-3713C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68077012 | ||||||
| chrX:68077048
|
C | T | 119 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(116): Show | 119 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(116): Show |
intron_variant | MODIFIER | c.1687-3749G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68077048 | ||||||
| chrX:68077249
|
A | G | 121 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(118): Show | 121 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(118): Show |
intron_variant | MODIFIER | c.1687-3950T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68077249 | ||||||
| chrX:68077572
|
TATG | T | 1 | a0001c0001t0002g0135 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1687-4276_1687-427 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68077572 | ||||||
| chrX:68077667
|
A | G | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1687-4368T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68077667 | ||||||
| chrX:68077830
|
G | A | 3 | a0001c0001t0004g0010a0001c0001t0004g0011a0001c0001t0004g0012 | 3 | HG02280.hp2 HG02451.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.1687-4531C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68077830 | ||||||
| chrX:68078154
|
G | A | 2 | a0001c0001t0001g0079a0001c0001t0001g0090 | 2 | HG01433.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.1687-4855C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68078154 | ||||||
| chrX:68078516
|
T | C | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1687-5217A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68078516 | ||||||
| chrX:68078716
|
T | C | 3 | a0001c0001t0004g0010a0001c0001t0004g0011a0001c0001t0004g0012 | 3 | HG02280.hp2 HG02451.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.1687-5417A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68078716 | ||||||
| chrX:68078811
|
C | T | 2 | a0001c0001t0001g0039a0001c0001t0001g0093 | 2 | HG00735.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.1687-5512G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68078811 | ||||||
| chrX:68078958
|
C | T | 3 | a0001c0001t0004g0010a0001c0001t0004g0011a0001c0001t0004g0012 | 3 | HG02280.hp2 HG02451.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.1687-5659G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68078958 | ||||||
| chrX:68078983
|
CAAAA | C | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1687-5688_1687-568 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68078983 | ||||||
| chrX:68078984
|
A | AAAAT | 36 | a0001c0001t0001g0028a0001c0001t0001g0041a0001c0001t0001g0060others(33): Show | 36 | HG00140.hp1 HG01081.hp1 HG01169.hp2 others(33): Show |
intron_variant | MODIFIER | c.1687-5689_1687-568 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68078984 | ||||||
| chrX:68078984
|
A | AAAATAAA others(1): Show |
13 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0062others(10): Show | 13 | HG00280.hp1 HG00673.hp1 HG01346.hp1 others(10): Show |
intron_variant | MODIFIER | c.1687-5693_1687-568 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68078984 | ||||||
| chrX:68078984
|
A | AAAATAAA others(5): Show |
1 | a0001c0001t0002g0123 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1687-5697_1687-568 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68078984 | ||||||
| chrX:68078984
|
AAAATAAA others(1): Show |
A | 2 | a0001c0001t0003g0081a0001c0001t0003g0091 | 2 | HG00099.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1687-5693_1687-568 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68078984 | ||||||
| chrX:68078984
|
AAAATAAA others(5): Show |
A | 1 | a0001c0001t0001g0154 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.1687-5697_1687-568 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68078984 | ||||||
| chrX:68079263
|
A | G | 2 | a0001c0001t0002g0083a0001c0001t0011g0061 | 2 | NA18948.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.1687-5964T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68079263 | ||||||
| chrX:68079472
|
C | T | 69 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(66): Show | 69 | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(66): Show |
intron_variant | MODIFIER | c.1687-6173G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68079472 | ||||||
| chrX:68079917
|
T | C | 2 | a0001c0001t0001g0048a0001c0001t0001g0050 | 2 | HG00609.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.1687-6618A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68079917 | ||||||
| chrX:68079960
|
G | C | 4 | a0001c0001t0005g0110a0001c0001t0005g0136a0001c0001t0005g0137others(1): Show | 4 | HG02717.hp1 HG02818.hp1 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.1687-6661C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68079960 | ||||||
| chrX:68080087
|
G | A | 4 | a0001c0001t0001g0008a0001c0001t0001g0064a0001c0001t0022g0103others(1): Show | 4 | HG01081.hp1 HG01346.hp1 HG01358.hp1 others(1): Show |
intron_variant | MODIFIER | c.1687-6788C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68080087 | ||||||
| chrX:68080133
|
C | T | 1 | a0001c0001t0027g0072 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1687-6834G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68080133 | ||||||
| chrX:68080249
|
A | G | 1 | a0001c0001t0002g0057 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.1687-6950T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68080249 | ||||||
| chrX:68080777
|
C | T | 24 | a0001c0001t0001g0143a0001c0001t0003g0018a0001c0001t0003g0020others(21): Show | 24 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(21): Show |
intron_variant | MODIFIER | c.1687-7478G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68080777 | ||||||
| chrX:68081190
|
T | C | 4 | a0001c0001t0004g0005a0001c0001t0004g0010a0001c0001t0004g0011others(1): Show | 4 | HG00735.hp2 HG02280.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.1687-7891A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68081190 | ||||||
| chrX:68081198
|
C | CT | 1 | a0001c0001t0001g0145 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.1687-7900dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68081198 | ||||||
| chrX:68081285
|
G | C | 13 | a0001c0001t0004g0094a0001c0001t0004g0095a0001c0001t0004g0117others(10): Show | 13 | HG01167.hp1 HG01169.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.1687-7986C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68081285 | ||||||
| chrX:68081788
|
G | A | 5 | a0001c0001t0004g0004a0001c0001t0004g0026a0001c0001t0004g0030others(2): Show | 5 | HG01081.hp2 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.1687-8489C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68081788 | ||||||
| chrX:68082008
|
C | T | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1687-8709G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68082008 | ||||||
| chrX:68082041
|
G | T | 4 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(1): Show | 4 | HG01081.hp2 HG02055.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.1687-8742C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68082041 | ||||||
| chrX:68082101
|
C | G | 105 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(102): Show | 105 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(102): Show |
intron_variant | MODIFIER | c.1687-8802G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68082101 | ||||||
| chrX:68082123
|
G | A | 1 | a0001c0001t0003g0139 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1687-8824C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68082123 | ||||||
| chrX:68082430
|
A | G | 14 | a0001c0001t0003g0018a0001c0001t0003g0020a0001c0001t0003g0035others(11): Show | 14 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(11): Show |
intron_variant | MODIFIER | c.1687-9131T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68082430 | ||||||
| chrX:68082681
|
G | C | 11 | a0001c0001t0002g0134a0001c0001t0005g0107a0001c0001t0005g0110others(8): Show | 11 | HG01167.hp1 HG01169.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.1687-9382C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68082681 | ||||||
| chrX:68082981
|
G | A | 83 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(80): Show | 83 | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(80): Show |
intron_variant | MODIFIER | c.1687-9682C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68082981 | ||||||
| chrX:68082992
|
C | T | 76 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(73): Show | 76 | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(73): Show |
intron_variant | MODIFIER | c.1687-9693G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68082992 | ||||||
| chrX:68082993
|
A | G | 85 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(82): Show | 85 | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(82): Show |
intron_variant | MODIFIER | c.1687-9694T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68082993 | ||||||
| chrX:68083054
|
C | CT | 19 | a0001c0001t0002g0014a0001c0001t0002g0115a0001c0001t0002g0134others(16): Show | 19 | HG00738.hp1 HG01099.hp1 HG01167.hp1 others(16): Show |
intron_variant | MODIFIER | c.1687-9756dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68083054 | ||||||
| chrX:68083054
|
C | CTT | 7 | a0001c0001t0001g0080a0001c0001t0003g0063a0001c0001t0003g0100others(4): Show | 7 | HG01106.hp1 HG01243.hp1 HG03017.hp1 others(4): Show |
intron_variant | MODIFIER | c.1687-9757_1687-975 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68083054 | ||||||
| chrX:68083054
|
C | CTTT | 23 | a0001c0001t0001g0016a0001c0001t0001g0025a0001c0001t0001g0050others(20): Show | 23 | HG00140.hp1 HG00609.hp1 HG01074.hp1 others(20): Show |
intron_variant | MODIFIER | c.1687-9758_1687-975 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68083054 | ||||||
| chrX:68083054
|
C | CTTTT | 29 | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0001g0029others(26): Show | 29 | HG00099.hp1 HG00621.hp1 HG00642.hp1 others(26): Show |
intron_variant | MODIFIER | c.1687-9759_1687-975 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68083054 | ||||||
| chrX:68083054
|
C | CTTTTT | 13 | a0001c0001t0001g0028a0001c0001t0001g0043a0001c0001t0001g0053others(10): Show | 13 | HG01069.hp1 HG01891.hp1 HG02083.hp1 others(10): Show |
intron_variant | MODIFIER | c.1687-9760_1687-975 others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68083054 | ||||||
| chrX:68083054
|
C | CTTTTTT | 7 | a0001c0001t0001g0009a0001c0001t0001g0027a0001c0001t0001g0074others(4): Show | 7 | HG01258.hp1 HG01934.hp1 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.1687-9761_1687-975 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68083054 | ||||||
| chrX:68083054
|
C | CTTTTTTT | 4 | a0001c0001t0004g0005a0001c0001t0004g0010a0001c0001t0004g0011others(1): Show | 4 | HG00735.hp2 HG02280.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.1687-9762_1687-975 others(11): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68083054 | ||||||
| chrX:68083054
|
C | CTTTTTTT others(5): Show |
1 | a0001c0001t0004g0030 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.1687-9767_1687-975 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68083054 | ||||||
| chrX:68083054
|
C | CTTTTTTT others(6): Show |
2 | a0001c0001t0004g0034a0001c0001t0021g0150 | 2 | HG02055.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1687-9768_1687-975 others(17): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68083054 | ||||||
| chrX:68083054
|
C | CTTTTTTT others(7): Show |
2 | a0001c0001t0004g0004a0001c0001t0004g0026 | 2 | HG02109.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1687-9769_1687-975 others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68083054 | ||||||
| chrX:68083054
|
CT | C | 6 | a0001c0001t0002g0021a0001c0001t0003g0109a0001c0001t0005g0110others(3): Show | 6 | HG02257.hp2 HG02615.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.1687-9756delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68083054 | ||||||
| chrX:68083054
|
CTTTTTTT others(3): Show |
C | 1 | a0001c0001t0001g0066 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1687-9765_1687-975 others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68083054 | ||||||
| chrX:68083054
|
CTTTTTTT others(6): Show |
C | 1 | a0001c0001t0023g0037 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1687-9768_1687-975 others(17): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68083054 | ||||||
| chrX:68083121
|
G | A | 83 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(80): Show | 83 | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(80): Show |
intron_variant | MODIFIER | c.1687-9822C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68083121 | ||||||
| chrX:68083141
|
C | T | 1 | a0001c0001t0003g0065 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1687-9842G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68083141 | ||||||
| chrX:68083227
|
T | C | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1687-9928A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68083227 | ||||||
| chrX:68083293
|
C | T | 1 | a0001c0001t0001g0079 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1687-9994G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68083293 | ||||||
| chrX:68083357
|
C | A | 1 | a0001c0001t0001g0028 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1687-10058G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68083357 | ||||||
| chrX:68083476
|
G | C | 2 | a0001c0001t0002g0133a0001c0001t0003g0065 | 2 | HG01891.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.1687-10177C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68083476 | ||||||
| chrX:68084061
|
C | T | 4 | a0001c0001t0001g0062a0001c0001t0001g0066a0001c0001t0001g0088others(1): Show | 4 | HG02056.hp1 NA18943.hp1 NA18990.hp1 others(1): Show |
intron_variant | MODIFIER | c.1687-10762G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68084061 | ||||||
| chrX:68084331
|
G | C | 4 | a0001c0001t0004g0005a0001c0001t0004g0010a0001c0001t0004g0011others(1): Show | 4 | HG00735.hp2 HG02280.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.1687-11032C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68084331 | ||||||
| chrX:68084344
|
A | AGGGGAGA others(11): Show |
1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1687-11063_1687-11 others(24): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68084344 | ||||||
| chrX:68084471
|
A | G | 4 | a0001c0001t0004g0005a0001c0001t0004g0010a0001c0001t0004g0011others(1): Show | 4 | HG00735.hp2 HG02280.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.1687-11172T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68084471 | ||||||
| chrX:68084609
|
G | GA | 87 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(84): Show | 87 | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(84): Show |
intron_variant | MODIFIER | c.1687-11311dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68084609 | ||||||
| chrX:68084770
|
A | C | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1687-11471T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68084770 | ||||||
| chrX:68084819
|
T | C | 5 | a0001c0001t0003g0101a0001c0001t0003g0111a0001c0001t0003g0113others(2): Show | 5 | HG02572.hp1 HG02723.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1687-11520A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68084819 | ||||||
| chrX:68085093
|
A | G | 4 | a0001c0001t0004g0005a0001c0001t0004g0010a0001c0001t0004g0011others(1): Show | 4 | HG00735.hp2 HG02280.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.1686+11777T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68085093 | ||||||
| chrX:68085885
|
T | A | 4 | a0001c0001t0004g0094a0001c0001t0004g0095a0001c0001t0004g0117others(1): Show | 4 | HG01891.hp2 HG02809.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1686+10985A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68085885 | ||||||
| chrX:68085886
|
A | G | 4 | a0001c0001t0004g0094a0001c0001t0004g0095a0001c0001t0004g0117others(1): Show | 4 | HG01891.hp2 HG02809.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1686+10984T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68085886 | ||||||
| chrX:68086135
|
C | T | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1686+10735G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68086135 | ||||||
| chrX:68086181
|
C | CAAAAAAA | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1686+10682_1686+10 others(13): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68086181 | ||||||
| chrX:68086181
|
C | CAAAAAAA others(1): Show |
13 | a0001c0001t0001g0053a0001c0001t0004g0004a0001c0001t0004g0005others(10): Show | 13 | HG00735.hp2 HG01081.hp2 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.1686+10681_1686+10 others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68086181 | ||||||
| chrX:68086181
|
C | CAAAAAAA others(2): Show |
63 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(60): Show | 63 | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(60): Show |
intron_variant | MODIFIER | c.1686+10680_1686+10 others(15): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68086181 | ||||||
| chrX:68086181
|
C | CAAAAAAA others(3): Show |
6 | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0001g0051others(3): Show | 6 | HG00621.hp1 HG01258.hp1 HG01261.hp1 others(3): Show |
intron_variant | MODIFIER | c.1686+10679_1686+10 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68086181 | ||||||
| chrX:68086227
|
T | C | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1686+10643A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68086227 | ||||||
| chrX:68086259
|
C | G | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1686+10611G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68086259 | ||||||
| chrX:68086298
|
C | A | 10 | a0001c0001t0005g0110a0001c0001t0005g0136a0001c0001t0005g0137others(7): Show | 10 | HG01167.hp1 HG01169.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1686+10572G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68086298 | ||||||
| chrX:68086642
|
C | A | 1 | a0001c0001t0003g0109 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1686+10228G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68086642 | ||||||
| chrX:68087615
|
A | G | 2 | a0001c0001t0002g0133a0001c0001t0003g0065 | 2 | HG01891.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.1686+9255T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68087615 | ||||||
| chrX:68088362
|
G | A | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1686+8508C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68088362 | ||||||
| chrX:68088416
|
A | G | 2 | a0001c0001t0001g0048a0001c0001t0001g0050 | 2 | HG00609.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.1686+8454T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68088416 | ||||||
| chrX:68088581
|
G | A | 1 | a0001c0001t0003g0151 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1686+8289C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68088581 | ||||||
| chrX:68088646
|
C | T | 2 | a0001c0001t0001g0039a0001c0001t0001g0093 | 2 | HG00735.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.1686+8224G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68088646 | ||||||
| chrX:68088755
|
T | C | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1686+8115A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68088755 | ||||||
| chrX:68089149
|
A | G | 6 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0070others(3): Show | 6 | HG01256.hp1 NA18970.hp1 NA18971.hp1 others(3): Show |
intron_variant | MODIFIER | c.1686+7721T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68089149 | ||||||
| chrX:68089179
|
G | A | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1686+7691C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68089179 | ||||||
| chrX:68089360
|
A | G | 1 | a0001c0001t0005g0107 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1686+7510T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68089360 | ||||||
| chrX:68089386
|
G | A | 1 | a0003c0004t0014g0102 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1686+7484C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68089386 | ||||||
| chrX:68089458
|
G | T | 103 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(100): Show | 103 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(100): Show |
intron_variant | MODIFIER | c.1686+7412C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68089458 | ||||||
| chrX:68089473
|
G | C | 24 | a0001c0001t0001g0064a0001c0001t0003g0018a0001c0001t0003g0020others(21): Show | 24 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(21): Show |
intron_variant | MODIFIER | c.1686+7397C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68089473 | ||||||
| chrX:68089625
|
G | A | 1 | a0001c0001t0002g0133 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1686+7245C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68089625 | ||||||
| chrX:68089760
|
G | A | 1 | a0001c0001t0001g0145 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.1686+7110C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68089760 | ||||||
| chrX:68089787
|
A | ACAGG | 1 | a0001c0001t0001g0016 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.1686+7079_1686+708 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68089787 | ||||||
| chrX:68089836
|
A | C | 1 | a0001c0001t0021g0150 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1686+7034T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68089836 | ||||||
| chrX:68089972
|
ACG | A | 1 | a0001c0001t0001g0090 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1686+6896_1686+689 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68089972 | ||||||
| chrX:68090242
|
C | CTG | 24 | a0001c0001t0001g0015a0001c0001t0001g0038a0001c0001t0001g0039others(21): Show | 24 | HG00280.hp1 HG00738.hp1 HG01081.hp1 others(21): Show |
intron_variant | MODIFIER | c.1686+6626_1686+662 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68090242 | ||||||
| chrX:68090242
|
C | CTGTG | 4 | a0001c0001t0002g0047a0001c0001t0003g0018a0001c0001t0003g0020others(1): Show | 4 | HG00673.hp1 HG02280.hp1 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.1686+6624_1686+662 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68090242 | ||||||
| chrX:68090242
|
C | CTGTGTG | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1686+6622_1686+662 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68090242 | ||||||
| chrX:68090242
|
C | CTGTGTGT others(1): Show |
9 | a0001c0001t0003g0101a0001c0001t0003g0111a0001c0001t0003g0113others(6): Show | 9 | HG01243.hp1 HG02451.hp1 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.1686+6620_1686+662 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68090242 | ||||||
| chrX:68090242
|
C | CTGTGTGT others(3): Show |
12 | a0001c0001t0001g0064a0001c0001t0003g0035a0001c0001t0003g0063others(9): Show | 12 | HG01099.hp1 HG01106.hp1 HG01192.hp1 others(9): Show |
intron_variant | MODIFIER | c.1686+6618_1686+662 others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68090242 | ||||||
| chrX:68090242
|
C | CTGTGTGT others(5): Show |
1 | a0001c0001t0003g0091 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1686+6616_1686+662 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68090242 | ||||||
| chrX:68090242
|
CTG | C | 10 | a0001c0001t0003g0139a0001c0001t0004g0004a0001c0001t0004g0005others(7): Show | 10 | HG00735.hp2 HG01081.hp2 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.1686+6626_1686+662 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68090242 | ||||||
| chrX:68090370
|
T | G | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1686+6500A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68090370 | ||||||
| chrX:68090615
|
C | T | 3 | a0001c0001t0001g0009a0001c0001t0001g0028a0001c0001t0011g0061 | 3 | HG02083.hp1 NA18982.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.1686+6255G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68090615 | ||||||
| chrX:68090818
|
T | C | 2 | a0001c0001t0002g0124a0001c0001t0002g0144 | 2 | HG02132.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.1686+6052A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68090818 | ||||||
| chrX:68090831
|
G | A | 65 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(62): Show | 65 | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(62): Show |
intron_variant | MODIFIER | c.1686+6039C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68090831 | ||||||
| chrX:68090958
|
A | G | 26 | a0001c0001t0001g0064a0001c0001t0003g0018a0001c0001t0003g0020others(23): Show | 26 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(23): Show |
intron_variant | MODIFIER | c.1686+5912T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68090958 | ||||||
| chrX:68091079
|
A | T | 6 | a0001c0001t0004g0004a0001c0001t0004g0026a0001c0001t0004g0030others(3): Show | 6 | HG01081.hp2 HG02055.hp1 HG02109.hp1 others(3): Show |
intron_variant | MODIFIER | c.1686+5791T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68091079 | ||||||
| chrX:68091240
|
C | T | 65 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(62): Show | 65 | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(62): Show |
intron_variant | MODIFIER | c.1686+5630G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68091240 | ||||||
| chrX:68092004
|
T | A | 2 | a0001c0001t0001g0045a0001c0001t0001g0078 | 2 | NA19085.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.1686+4866A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68092004 | ||||||
| chrX:68092121
|
GA | G | 98 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(95): Show | 98 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(95): Show |
intron_variant | MODIFIER | c.1686+4748delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68092121 | ||||||
| chrX:68092177
|
GA | G | 1 | a0001c0001t0008g0112 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1686+4692delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68092177 | ||||||
| chrX:68092347
|
T | A | 4 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(1): Show | 4 | HG00099.hp1 HG01258.hp1 HG01261.hp1 others(1): Show |
intron_variant | MODIFIER | c.1686+4523A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68092347 | ||||||
| chrX:68092382
|
T | C | 2 | a0001c0001t0009g0128a0001c0001t0009g0129 | 2 | HG01243.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1686+4488A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68092382 | ||||||
| chrX:68092595
|
A | G | 1 | a0001c0001t0001g0046 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.1686+4275T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68092595 | ||||||
| chrX:68092852
|
T | G | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1686+4018A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68092852 | ||||||
| chrX:68092862
|
T | C | 2 | a0001c0001t0009g0128a0001c0001t0009g0129 | 2 | HG01243.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1686+4008A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68092862 | ||||||
| chrX:68092868
|
T | A | 9 | a0001c0001t0004g0094a0001c0001t0004g0095a0001c0001t0004g0117others(6): Show | 9 | HG01891.hp2 HG02257.hp1 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.1686+4002A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68092868 | ||||||
| chrX:68093427
|
G | A | 8 | a0001c0001t0001g0064a0001c0001t0003g0035a0001c0001t0003g0063others(5): Show | 8 | HG01099.hp1 HG01106.hp1 HG01192.hp1 others(5): Show |
intron_variant | MODIFIER | c.1686+3443C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68093427 | ||||||
| chrX:68093610
|
C | T | 1 | a0001c0001t0023g0037 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1686+3260G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68093610 | ||||||
| chrX:68093743
|
C | T | 1 | a0001c0001t0003g0139 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1686+3127G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68093743 | ||||||
| chrX:68094007
|
A | G | 2 | a0001c0001t0009g0128a0001c0001t0009g0129 | 2 | HG01243.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1686+2863T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68094007 | ||||||
| chrX:68094466
|
G | T | 4 | a0001c0001t0004g0005a0001c0001t0004g0010a0001c0001t0004g0011others(1): Show | 4 | HG00735.hp2 HG02280.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.1686+2404C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68094466 | ||||||
| chrX:68095091
|
A | C | 1 | a0001c0001t0002g0123 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1686+1779T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68095091 | ||||||
| chrX:68095197
|
G | C | 1 | a0001c0001t0001g0149 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1686+1673C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68095197 | ||||||
| chrX:68095704
|
C | G | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1686+1166G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68095704 | ||||||
| chrX:68095800
|
AG | A | 2 | a0001c0001t0028g0084a0001c0001t0029g0031 | 2 | NA18962.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.1686+1069delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68095800 | ||||||
| chrX:68095893
|
C | A | 1 | a0001c0001t0003g0109 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1686+977G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68095893 | ||||||
| chrX:68095927
|
C | T | 1 | a0003c0004t0014g0102 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1686+943G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68095927 | ||||||
| chrX:68096068
|
G | A | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1686+802C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68096068 | ||||||
| chrX:68096181
|
A | G | 1 | a0001c0001t0003g0035 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1686+689T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68096181 | ||||||
| chrX:68096244
|
A | T | 3 | a0001c0001t0001g0041a0001c0001t0001g0092a0001c0001t0024g0007 | 3 | NA18960.hp1 NA19000.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.1686+626T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68096244 | ||||||
| chrX:68096325
|
G | A | 2 | a0001c0001t0003g0035a0001c0001t0004g0004 | 2 | HG01099.hp1 HG02109.hp1 |
intron_variant | MODIFIER | c.1686+545C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68096325 | ||||||
| chrX:68096540
|
A | G | 1 | a0001c0001t0001g0082 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1686+330T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | 68096540 | ||||||
| chrX:68097190
|
G | C | 3 | a0001c0001t0003g0018a0001c0001t0003g0020a0001c0001t0030g0155 | 3 | HG02280.hp1 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.1527-161C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68097190 | ||||||
| chrX:68097230
|
G | C | 1 | a0001c0001t0001g0027 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.1527-201C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68097230 | ||||||
| chrX:68097331
|
G | A | 2 | a0001c0001t0002g0021a0001c0001t0006g0013 | 2 | HG02257.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.1527-302C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68097331 | ||||||
| chrX:68097366
|
A | T | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1527-337T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68097366 | ||||||
| chrX:68097728
|
G | C | 1 | a0001c0003t0010g0085 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1527-699C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68097728 | ||||||
| chrX:68097813
|
C | T | 1 | a0001c0001t0005g0110 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1527-784G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68097813 | ||||||
| chrX:68097896
|
TG | T | 1 | a0001c0001t0002g0021 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1527-868delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68097896 | ||||||
| chrX:68099021
|
T | C | 4 | a0001c0001t0004g0005a0001c0001t0004g0010a0001c0001t0004g0011others(1): Show | 4 | HG00735.hp2 HG02280.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.1527-1992A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68099021 | ||||||
| chrX:68099112
|
T | A | 62 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(59): Show | 62 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.1527-2083A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68099112 | ||||||
| chrX:68099252
|
C | T | 62 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(59): Show | 62 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.1527-2223G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68099252 | ||||||
| chrX:68099348
|
T | A | 2 | a0001c0001t0001g0039a0001c0001t0001g0093 | 2 | HG00735.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.1527-2319A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68099348 | ||||||
| chrX:68099452
|
C | G | 79 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(76): Show | 79 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(76): Show |
intron_variant | MODIFIER | c.1527-2423G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68099452 | ||||||
| chrX:68099468
|
G | A | 1 | a0001c0001t0001g0062 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1527-2439C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68099468 | ||||||
| chrX:68099547
|
C | G | 14 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(11): Show | 14 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.1527-2518G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68099547 | ||||||
| chrX:68099823
|
C | G | 1 | a0001c0001t0001g0132 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1527-2794G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68099823 | ||||||
| chrX:68099963
|
G | A | 134 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(131): Show | 134 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(131): Show |
intron_variant | MODIFIER | c.1527-2934C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68099963 | ||||||
| chrX:68100163
|
T | C | 3 | a0001c0001t0001g0025a0001c0001t0001g0064a0001c0001t0001g0069 | 3 | HG00140.hp1 HG01515.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.1527-3134A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68100163 | ||||||
| chrX:68100288
|
TAC | T | 3 | a0001c0001t0004g0010a0001c0001t0004g0011a0001c0001t0004g0012 | 3 | HG02280.hp2 HG02451.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.1527-3261_1527-326 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68100288 | ||||||
| chrX:68100331
|
A | G | 2 | a0001c0001t0002g0021a0001c0001t0006g0013 | 2 | HG02257.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.1527-3302T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68100331 | ||||||
| chrX:68100408
|
A | G | 1 | a0001c0001t0003g0118 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1527-3379T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68100408 | ||||||
| chrX:68100431
|
CA | C | 1 | a0001c0001t0002g0021 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1527-3403delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68100431 | ||||||
| chrX:68100721
|
C | CT | 10 | a0001c0001t0001g0027a0001c0001t0001g0041a0001c0001t0001g0043others(7): Show | 10 | HG00621.hp1 HG02071.hp1 NA18747.hp1 others(7): Show |
intron_variant | MODIFIER | c.1527-3693dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68100721 | ||||||
| chrX:68100739
|
TTTTA | T | 1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1527-3714_1527-371 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68100739 | ||||||
| chrX:68100739
|
TTTTATTT others(1): Show |
T | 3 | a0001c0001t0003g0018a0001c0001t0003g0020a0001c0001t0030g0155 | 3 | HG02280.hp1 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.1527-3718_1527-371 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68100739 | ||||||
| chrX:68100807
|
C | T | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1527-3778G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68100807 | ||||||
| chrX:68100808
|
G | A | 1 | a0001c0001t0001g0051 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1527-3779C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68100808 | ||||||
| chrX:68100836
|
T | G | 83 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(80): Show | 83 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(80): Show |
intron_variant | MODIFIER | c.1527-3807A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68100836 | ||||||
| chrX:68100872
|
G | A | 15 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0021others(12): Show | 15 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(12): Show |
intron_variant | MODIFIER | c.1527-3843C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68100872 | ||||||
| chrX:68101082
|
C | T | 1 | a0001c0001t0001g0028 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1527-4053G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68101082 | ||||||
| chrX:68101109
|
T | C | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1527-4080A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68101109 | ||||||
| chrX:68101323
|
G | A | 2 | a0001c0001t0001g0059a0001c0001t0001g0074 | 2 | HG01258.hp1 HG01261.hp1 |
intron_variant | MODIFIER | c.1527-4294C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68101323 | ||||||
| chrX:68101405
|
T | A | 4 | a0001c0001t0002g0108a0001c0001t0002g0126a0001c0001t0002g0130others(1): Show | 4 | HG02965.hp1 HG03139.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.1527-4376A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68101405 | ||||||
| chrX:68101474
|
T | C | 2 | a0001c0001t0002g0021a0001c0001t0006g0013 | 2 | HG02257.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.1527-4445A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68101474 | ||||||
| chrX:68101548
|
G | A | 8 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(5): Show | 8 | HG02109.hp2 HG02145.hp1 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.1527-4519C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68101548 | ||||||
| chrX:68101580
|
A | C | 1 | a0001c0001t0017g0036 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1527-4551T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68101580 | ||||||
| chrX:68101860
|
C | T | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1527-4831G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68101860 | ||||||
| chrX:68101899
|
G | T | 133 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(130): Show | 133 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(130): Show |
intron_variant | MODIFIER | c.1527-4870C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68101899 | ||||||
| chrX:68101907
|
T | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1527-4878A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68101907 | ||||||
| chrX:68102078
|
C | T | 65 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(62): Show | 65 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(62): Show |
intron_variant | MODIFIER | c.1527-5049G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68102078 | ||||||
| chrX:68102271
|
A | C | 15 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(12): Show | 15 | HG00735.hp2 HG01255.hp1 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.1527-5242T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68102271 | ||||||
| chrX:68102272
|
C | A | 3 | a0001c0001t0001g0017a0001c0001t0001g0070a0001c0001t0001g0086 | 3 | NA18971.hp1 NA19056.hp1 NA19060.hp1 |
intron_variant | MODIFIER | c.1527-5243G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68102272 | ||||||
| chrX:68102408
|
C | T | 29 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0059others(26): Show | 29 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(26): Show |
intron_variant | MODIFIER | c.1527-5379G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68102408 | ||||||
| chrX:68102437
|
C | T | 1 | a0001c0001t0028g0084 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.1527-5408G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68102437 | ||||||
| chrX:68102737
|
A | G | 1 | a0001c0001t0002g0125 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1527-5708T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68102737 | ||||||
| chrX:68103154
|
C | T | 77 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(74): Show | 77 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(74): Show |
intron_variant | MODIFIER | c.1527-6125G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68103154 | ||||||
| chrX:68103362
|
T | C | 16 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(13): Show | 16 | HG00735.hp2 HG01255.hp1 HG02109.hp2 others(13): Show |
intron_variant | MODIFIER | c.1527-6333A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68103362 | ||||||
| chrX:68103462
|
C | T | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1527-6433G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68103462 | ||||||
| chrX:68103487
|
T | TCAC | 1 | a0002c0002t0003g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1527-6461_1527-645 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68103487 | ||||||
| chrX:68103497
|
T | G | 2 | a0001c0001t0004g0005a0001c0001t0019g0003 | 2 | HG00735.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1527-6468A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68103497 | ||||||
| chrX:68103621
|
A | AC | 134 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(131): Show | 134 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(131): Show |
intron_variant | MODIFIER | c.1527-6593dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68103621 | ||||||
| chrX:68103714
|
T | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1527-6685A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68103714 | ||||||
| chrX:68104391
|
A | G | 1 | a0001c0001t0001g0145 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.1527-7362T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68104391 | ||||||
| chrX:68104513
|
C | T | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1526+7341G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68104513 | ||||||
| chrX:68104723
|
G | A | 1 | a0001c0001t0007g0022 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1526+7131C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68104723 | ||||||
| chrX:68104892
|
A | T | 1 | a0001c0001t0001g0146 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1526+6962T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68104892 | ||||||
| chrX:68104960
|
G | GA | 1 | a0001c0001t0024g0007 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.1526+6893dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68104960 | ||||||
| chrX:68105011
|
C | T | 33 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0059others(30): Show | 33 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(30): Show |
intron_variant | MODIFIER | c.1526+6843G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68105011 | ||||||
| chrX:68105118
|
C | T | 79 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(76): Show | 79 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(76): Show |
intron_variant | MODIFIER | c.1526+6736G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68105118 | ||||||
| chrX:68105479
|
A | G | 1 | a0001c0001t0002g0021 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1526+6375T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68105479 | ||||||
| chrX:68105556
|
A | C | 1 | a0001c0001t0001g0044 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1526+6298T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68105556 | ||||||
| chrX:68105908
|
T | C | 1 | a0001c0001t0002g0021 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1526+5946A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68105908 | ||||||
| chrX:68106015
|
T | TA | 3 | a0001c0001t0002g0134a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02559.hp2 HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1526+5838dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68106015 | ||||||
| chrX:68106104
|
A | AAG | 53 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0059others(50): Show | 53 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(50): Show |
intron_variant | MODIFIER | c.1526+5748_1526+574 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68106104 | ||||||
| chrX:68106104
|
A | AAGAG | 3 | a0001c0003t0010g0085a0001c0003t0010g0089a0003c0004t0014g0102 | 3 | HG02735.hp1 HG02886.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.1526+5746_1526+574 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68106104 | ||||||
| chrX:68106104
|
AAG | A | 3 | a0001c0001t0004g0010a0001c0001t0004g0011a0001c0001t0004g0012 | 3 | HG02280.hp2 HG02451.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.1526+5748_1526+574 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68106104 | ||||||
| chrX:68106190
|
C | CT | 13 | a0001c0001t0001g0040a0001c0001t0001g0086a0001c0001t0001g0088others(10): Show | 13 | HG00280.hp1 HG01243.hp1 HG02056.hp1 others(10): Show |
intron_variant | MODIFIER | c.1526+5663dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68106190 | ||||||
| chrX:68106190
|
CT | C | 6 | a0001c0001t0002g0116a0001c0001t0002g0125a0001c0001t0002g0127others(3): Show | 6 | HG01255.hp1 HG02630.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.1526+5663delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68106190 | ||||||
| chrX:68106367
|
T | A | 3 | a0001c0001t0002g0134a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02559.hp2 HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1526+5487A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68106367 | ||||||
| chrX:68106439
|
T | G | 3 | a0001c0001t0003g0018a0001c0001t0003g0020a0001c0001t0030g0155 | 3 | HG02280.hp1 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.1526+5415A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68106439 | ||||||
| chrX:68106516
|
A | ATTT | 1 | a0001c0001t0005g0138 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1526+5337_1526+533 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68106516 | ||||||
| chrX:68106518
|
A | T | 1 | a0001c0001t0005g0138 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1526+5336T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68106518 | ||||||
| chrX:68106519
|
T | C | 1 | a0001c0001t0005g0138 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1526+5335A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68106519 | ||||||
| chrX:68106649
|
A | G | 1 | a0001c0001t0001g0038 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1526+5205T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68106649 | ||||||
| chrX:68107545
|
C | T | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1526+4309G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68107545 | ||||||
| chrX:68107817
|
G | T | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1526+4037C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68107817 | ||||||
| chrX:68108302
|
C | T | 1 | a0001c0001t0021g0150 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1526+3552G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68108302 | ||||||
| chrX:68108482
|
AT | A | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1526+3371delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68108482 | ||||||
| chrX:68108680
|
T | A | 1 | a0001c0001t0002g0083 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.1526+3174A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68108680 | ||||||
| chrX:68108943
|
C | T | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1526+2911G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68108943 | ||||||
| chrX:68109290
|
GT | G | 1 | a0001c0001t0007g0022 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1526+2563delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68109290 | ||||||
| chrX:68109508
|
A | G | 1 | a0001c0001t0005g0107 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1526+2346T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68109508 | ||||||
| chrX:68109592
|
G | GT | 1 | a0001c0001t0002g0021 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1526+2261dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68109592 | ||||||
| chrX:68109601
|
A | T | 2 | a0001c0001t0003g0081a0001c0001t0003g0091 | 2 | HG00099.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1526+2253T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68109601 | ||||||
| chrX:68109901
|
C | T | 150 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(147): Show | 150 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(147): Show |
intron_variant | MODIFIER | c.1526+1953G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68109901 | ||||||
| chrX:68110006
|
T | TA | 148 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(145): Show | 148 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
intron_variant | MODIFIER | c.1526+1847dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68110006 | ||||||
| chrX:68110043
|
G | A | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1526+1811C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68110043 | ||||||
| chrX:68110077
|
T | C | 1 | a0001c0001t0003g0101 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1526+1777A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68110077 | ||||||
| chrX:68110308
|
T | A | 1 | a0001c0001t0001g0066 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1526+1546A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68110308 | ||||||
| chrX:68110474
|
T | C | 1 | a0001c0001t0002g0125 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1526+1380A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68110474 | ||||||
| chrX:68110946
|
C | T | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1526+908G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68110946 | ||||||
| chrX:68111157
|
C | G | 1 | a0001c0001t0001g0038 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1526+697G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68111157 | ||||||
| chrX:68111478
|
C | G | 1 | a0001c0001t0002g0123 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1526+376G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68111478 | ||||||
| chrX:68111541
|
G | A | 6 | a0001c0001t0003g0122a0001c0001t0007g0023a0001c0001t0007g0032others(3): Show | 6 | HG01243.hp1 HG02451.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.1526+313C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 18/24 | chrX | 68111541 | ||||||
| chrX:68112061
|
G | GCA | 8 | a0001c0001t0002g0021a0001c0001t0003g0113a0001c0001t0004g0005others(5): Show | 8 | HG00735.hp2 HG01081.hp1 HG02257.hp2 others(5): Show |
intron_variant | MODIFIER | c.1421-104_1421-103d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 17/24 | chrX | 68112061 | ||||||
| chrX:68112061
|
G | GCACA | 30 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0043others(27): Show | 30 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(27): Show |
intron_variant | MODIFIER | c.1421-106_1421-103d others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 17/24 | chrX | 68112061 | ||||||
| chrX:68112061
|
G | GCACACA | 7 | a0001c0001t0001g0097a0001c0001t0003g0151a0001c0001t0004g0004others(4): Show | 7 | HG01891.hp2 HG02109.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1421-108_1421-103d others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 17/24 | chrX | 68112061 | ||||||
| chrX:68112061
|
G | GCACACAC others(1): Show |
7 | a0001c0001t0002g0134a0001c0001t0003g0020a0001c0001t0006g0013others(4): Show | 7 | HG00738.hp1 HG02559.hp2 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.1421-110_1421-103d others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 17/24 | chrX | 68112061 | ||||||
| chrX:68112061
|
G | GCACACAC others(3): Show |
1 | a0001c0001t0003g0018 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1421-112_1421-103d others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 17/24 | chrX | 68112061 | ||||||
| chrX:68112061
|
G | GCACACAC others(5): Show |
1 | a0001c0001t0008g0096 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1421-114_1421-103d others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 17/24 | chrX | 68112061 | ||||||
| chrX:68112061
|
G | GCACACAC others(7): Show |
5 | a0001c0001t0003g0139a0001c0001t0005g0110a0001c0001t0005g0136others(2): Show | 5 | HG02258.hp1 HG02717.hp1 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.1421-116_1421-103d others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 17/24 | chrX | 68112061 | ||||||
| chrX:68112061
|
GCACA | G | 16 | a0001c0001t0003g0035a0001c0001t0003g0063a0001c0001t0003g0076others(13): Show | 16 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(13): Show |
intron_variant | MODIFIER | c.1421-106_1421-103d others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 17/24 | chrX | 68112061 | ||||||
| chrX:68112086
|
CACAG | C | 2 | a0001c0001t0002g0006a0001c0001t0008g0112 | 2 | HG02074.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.1421-131_1421-128d others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 17/24 | chrX | 68112086 | ||||||
| chrX:68112088
|
CAG | C | 67 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(64): Show | 67 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(64): Show |
intron_variant | MODIFIER | c.1421-131_1421-130d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 17/24 | chrX | 68112088 | ||||||
| chrX:68112088
|
CAGAG | C | 2 | a0001c0001t0001g0027a0001c0001t0001g0082 | 2 | HG03710.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.1421-133_1421-130d others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 17/24 | chrX | 68112088 | ||||||
| chrX:68112090
|
G | C | 62 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0041others(59): Show | 62 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(59): Show |
intron_variant | MODIFIER | c.1421-131C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 17/24 | chrX | 68112090 | ||||||
| chrX:68112092
|
G | C | 77 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(74): Show | 77 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(74): Show |
intron_variant | MODIFIER | c.1421-133C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 17/24 | chrX | 68112092 | ||||||
| chrX:68112841
|
G | A | 1 | a0001c0001t0026g0056 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1420+340C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 17/24 | chrX | 68112841 | ||||||
| chrX:68113400
|
G | A | 8 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(5): Show | 8 | HG02109.hp2 HG02145.hp1 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.1362-161C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68113400 | ||||||
| chrX:68113572
|
C | T | 17 | a0001c0001t0003g0035a0001c0001t0003g0063a0001c0001t0003g0076others(14): Show | 17 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(14): Show |
intron_variant | MODIFIER | c.1362-333G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68113572 | ||||||
| chrX:68113814
|
C | T | 151 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(148): Show | 151 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
intron_variant | MODIFIER | c.1362-575G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68113814 | ||||||
| chrX:68113819
|
T | TG | 1 | a0001c0001t0001g0075 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1362-581dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68113819 | ||||||
| chrX:68113975
|
A | G | 35 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0059others(32): Show | 35 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(32): Show |
intron_variant | MODIFIER | c.1362-736T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68113975 | ||||||
| chrX:68113980
|
AAG | A | 13 | a0001c0001t0002g0021a0001c0001t0002g0134a0001c0001t0003g0018others(10): Show | 13 | HG02257.hp1 HG02257.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.1362-743_1362-742d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68113980 | ||||||
| chrX:68113982
|
G | A | 64 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(61): Show | 64 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(61): Show |
intron_variant | MODIFIER | c.1362-743C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68113982 | ||||||
| chrX:68113982
|
GA | G | 73 | a0001c0001t0001g0015a0001c0001t0001g0039a0001c0001t0001g0040others(70): Show | 73 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(70): Show |
intron_variant | MODIFIER | c.1362-744delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68113982 | ||||||
| chrX:68113983
|
A | G | 77 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(74): Show | 77 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(74): Show |
intron_variant | MODIFIER | c.1362-744T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68113983 | ||||||
| chrX:68114085
|
T | C | 1 | a0001c0001t0001g0043 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1362-846A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68114085 | ||||||
| chrX:68114293
|
C | T | 1 | a0001c0001t0004g0026 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1362-1054G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68114293 | ||||||
| chrX:68114383
|
T | C | 17 | a0001c0001t0003g0035a0001c0001t0003g0063a0001c0001t0003g0076others(14): Show | 17 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(14): Show |
intron_variant | MODIFIER | c.1362-1144A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68114383 | ||||||
| chrX:68115239
|
C | A | 1 | a0001c0001t0004g0010 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1362-2000G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68115239 | ||||||
| chrX:68115322
|
A | C | 1 | a0001c0001t0001g0066 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1362-2083T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68115322 | ||||||
| chrX:68115338
|
A | G | 1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1362-2099T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68115338 | ||||||
| chrX:68115625
|
C | T | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1362-2386G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68115625 | ||||||
| chrX:68115698
|
AC | A | 1 | a0001c0001t0001g0016 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.1362-2460delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68115698 | ||||||
| chrX:68115829
|
T | C | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1362-2590A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68115829 | ||||||
| chrX:68115950
|
C | A | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1362-2711G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68115950 | ||||||
| chrX:68116242
|
A | G | 2 | a0001c0001t0007g0023a0001c0001t0007g0033 | 2 | HG02559.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1362-3003T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68116242 | ||||||
| chrX:68116522
|
G | A | 5 | a0001c0001t0004g0004a0001c0001t0004g0026a0001c0001t0004g0030others(2): Show | 5 | HG01081.hp2 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.1361+2726C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68116522 | ||||||
| chrX:68116645
|
T | G | 1 | a0001c0001t0008g0112 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1361+2603A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68116645 | ||||||
| chrX:68117077
|
T | A | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1361+2171A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68117077 | ||||||
| chrX:68117243
|
C | T | 1 | a0001c0001t0001g0082 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1361+2005G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68117243 | ||||||
| chrX:68117805
|
T | A | 1 | a0001c0001t0001g0075 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1361+1443A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68117805 | ||||||
| chrX:68118053
|
T | A | 13 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(10): Show | 13 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1361+1195A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68118053 | ||||||
| chrX:68118104
|
G | A | 2 | a0001c0001t0009g0128a0001c0001t0009g0129 | 2 | HG01243.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1361+1144C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68118104 | ||||||
| chrX:68118818
|
C | T | 42 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0059others(39): Show | 42 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(39): Show |
intron_variant | MODIFIER | c.1361+430G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68118818 | ||||||
| chrX:68118888
|
C | T | 6 | a0001c0001t0003g0122a0001c0001t0007g0023a0001c0001t0007g0032others(3): Show | 6 | HG01243.hp1 HG02451.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.1361+360G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68118888 | ||||||
| chrX:68119122
|
T | C | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1361+126A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 16/24 | chrX | 68119122 | ||||||
| chrX:68119394
|
T | C | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1277-62A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68119394 | ||||||
| chrX:68119788
|
G | C | 6 | a0001c0001t0003g0122a0001c0001t0007g0023a0001c0001t0007g0032others(3): Show | 6 | HG01243.hp1 HG02451.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.1277-456C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68119788 | ||||||
| chrX:68119976
|
T | C | 1 | a0001c0001t0001g0045 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.1277-644A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68119976 | ||||||
| chrX:68120078
|
A | G | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1277-746T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68120078 | ||||||
| chrX:68120097
|
C | T | 3 | a0001c0001t0004g0010a0001c0001t0004g0011a0001c0001t0004g0012 | 3 | HG02280.hp2 HG02451.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.1277-765G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68120097 | ||||||
| chrX:68120478
|
T | C | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1277-1146A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68120478 | ||||||
| chrX:68120585
|
A | T | 62 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(59): Show | 62 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.1277-1253T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68120585 | ||||||
| chrX:68121130
|
G | A | 14 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(11): Show | 14 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.1277-1798C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68121130 | ||||||
| chrX:68121149
|
C | T | 2 | a0001c0001t0002g0124a0001c0001t0002g0144 | 2 | HG02132.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.1277-1817G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68121149 | ||||||
| chrX:68121378
|
C | T | 151 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(148): Show | 151 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
intron_variant | MODIFIER | c.1277-2046G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68121378 | ||||||
| chrX:68121643
|
G | A | 1 | a0001c0001t0001g0043 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1277-2311C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68121643 | ||||||
| chrX:68121972
|
C | T | 14 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(11): Show | 14 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.1277-2640G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68121972 | ||||||
| chrX:68122083
|
C | T | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1277-2751G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68122083 | ||||||
| chrX:68122361
|
T | C | 151 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(148): Show | 151 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
intron_variant | MODIFIER | c.1277-3029A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68122361 | ||||||
| chrX:68122977
|
G | A | 14 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(11): Show | 14 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.1277-3645C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68122977 | ||||||
| chrX:68123324
|
G | T | 1 | a0001c0001t0001g0040 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.1277-3992C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68123324 | ||||||
| chrX:68123531
|
T | G | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1277-4199A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68123531 | ||||||
| chrX:68123869
|
G | A | 3 | a0001c0001t0001g0039a0001c0001t0001g0071a0001c0001t0001g0093 | 3 | HG00642.hp1 HG00735.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.1277-4537C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68123869 | ||||||
| chrX:68123954
|
T | TA | 151 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(148): Show | 151 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
intron_variant | MODIFIER | c.1277-4623dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68123954 | ||||||
| chrX:68124269
|
G | GT | 1 | a0001c0001t0001g0088 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1277-4938dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68124269 | ||||||
| chrX:68124592
|
G | T | 1 | a0001c0001t0004g0026 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1277-5260C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68124592 | ||||||
| chrX:68124664
|
C | CT | 32 | a0001c0001t0001g0008a0001c0001t0002g0014a0001c0001t0002g0019others(29): Show | 32 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(29): Show |
intron_variant | MODIFIER | c.1277-5333dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68124664 | ||||||
| chrX:68124885
|
C | T | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1277-5553G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68124885 | ||||||
| chrX:68125114
|
TTA | T | 1 | a0001c0001t0001g0052 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1277-5784_1277-578 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125114 | ||||||
| chrX:68125363
|
T | G | 4 | a0001c0001t0004g0005a0001c0001t0004g0010a0001c0001t0004g0011others(1): Show | 4 | HG00735.hp2 HG02280.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.1277-6031A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125363 | ||||||
| chrX:68125382
|
T | C | 4 | a0001c0001t0004g0005a0001c0001t0004g0010a0001c0001t0004g0011others(1): Show | 4 | HG00735.hp2 HG02280.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.1277-6050A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125382 | ||||||
| chrX:68125872
|
C | A | 1 | a0001c0001t0027g0072 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1277-6540G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125872 | ||||||
| chrX:68125930
|
A | AATAT | 25 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0059others(22): Show | 25 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(22): Show |
intron_variant | MODIFIER | c.1277-6602_1277-659 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125930 | ||||||
| chrX:68125930
|
A | AATATAT | 6 | a0001c0001t0002g0006a0001c0001t0004g0026a0001c0001t0004g0030others(3): Show | 6 | HG01081.hp1 HG01081.hp2 HG02055.hp1 others(3): Show |
intron_variant | MODIFIER | c.1277-6604_1277-659 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125930 | ||||||
| chrX:68125930
|
A | AATATATA others(1): Show |
1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1277-6606_1277-659 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125930 | ||||||
| chrX:68125930
|
A | AATATATA others(3): Show |
4 | a0001c0001t0003g0076a0001c0001t0007g0023a0001c0001t0007g0033others(1): Show | 4 | HG01192.hp1 HG02559.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.1277-6608_1277-659 others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125930 | ||||||
| chrX:68125930
|
A | AATATATA others(5): Show |
6 | a0001c0001t0003g0035a0001c0001t0003g0113a0001c0001t0004g0004others(3): Show | 6 | HG01099.hp1 HG01358.hp1 HG02109.hp1 others(3): Show |
intron_variant | MODIFIER | c.1277-6610_1277-659 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125930 | ||||||
| chrX:68125930
|
A | AATATATA others(7): Show |
2 | a0001c0001t0003g0081a0001c0001t0003g0091 | 2 | HG00099.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1277-6612_1277-659 others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125930 | ||||||
| chrX:68125930
|
A | AATATATA others(9): Show |
4 | a0001c0001t0003g0100a0001c0001t0009g0128a0001c0001t0009g0129others(1): Show | 4 | HG01106.hp1 HG01243.hp1 HG01346.hp2 others(1): Show |
intron_variant | MODIFIER | c.1277-6614_1277-659 others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125930 | ||||||
| chrX:68125930
|
A | AATATATA others(11): Show |
3 | a0001c0001t0002g0115a0001c0001t0002g0125a0001c0001t0008g0112 | 3 | HG01255.hp1 HG02145.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.1277-6616_1277-659 others(22): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125930 | ||||||
| chrX:68125930
|
A | AATATATA others(15): Show |
4 | a0001c0001t0002g0127a0001c0001t0003g0109a0001c0001t0003g0122others(1): Show | 4 | HG02615.hp1 HG02630.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.1277-6620_1277-659 others(26): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125930 | ||||||
| chrX:68125930
|
A | AATATATA others(17): Show |
5 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0131others(2): Show | 5 | HG02109.hp2 HG02965.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1277-6622_1277-659 others(28): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125930 | ||||||
| chrX:68125930
|
A | AATATATA others(19): Show |
1 | a0001c0001t0002g0126 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1277-6624_1277-659 others(30): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125930 | ||||||
| chrX:68125930
|
A | AATATATA others(21): Show |
4 | a0001c0001t0002g0108a0001c0001t0002g0114a0001c0001t0002g0116others(1): Show | 4 | HG02922.hp1 HG03139.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.1277-6599_1277-659 others(32): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125930 | ||||||
| chrX:68125930
|
AATATATA others(7): Show |
A | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1277-6612_1277-659 others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125930 | ||||||
| chrX:68125954
|
T | C | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1277-6622A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125954 | ||||||
| chrX:68125954
|
T | TATATAC | 1 | a0001c0001t0001g0147 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.1277-6623_1277-662 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125954 | ||||||
| chrX:68125954
|
T | TATATATA others(5): Show |
2 | a0001c0001t0001g0029a0001c0001t0001g0045 | 2 | NA18988.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.1277-6623_1277-662 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125954 | ||||||
| chrX:68125954
|
T | TATATATA others(7): Show |
2 | a0001c0003t0010g0085a0001c0003t0010g0089 | 2 | HG02735.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.1277-6623_1277-662 others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125954 | ||||||
| chrX:68125954
|
T | TATATATA others(9): Show |
1 | a0001c0001t0001g0028 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1277-6623_1277-662 others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125954 | ||||||
| chrX:68125954
|
T | TATATATA others(11): Show |
2 | a0001c0001t0001g0051a0001c0001t0001g0149 | 2 | HG00621.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.1277-6623_1277-662 others(22): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125954 | ||||||
| chrX:68125954
|
T | TATATATA others(13): Show |
3 | a0001c0001t0001g0049a0001c0001t0001g0064a0001c0001t0001g0069 | 3 | HG00140.hp1 HG02300.hp1 NA18945.hp1 |
intron_variant | MODIFIER | c.1277-6623_1277-662 others(24): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125954 | ||||||
| chrX:68125954
|
T | TATATATA others(15): Show |
11 | a0001c0001t0001g0027a0001c0001t0001g0038a0001c0001t0001g0071others(8): Show | 11 | HG00642.hp1 HG00735.hp1 HG01169.hp2 others(8): Show |
intron_variant | MODIFIER | c.1277-6623_1277-662 others(26): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125954 | ||||||
| chrX:68125954
|
T | TATATATA others(17): Show |
11 | a0001c0001t0001g0016a0001c0001t0001g0025a0001c0001t0001g0039others(8): Show | 11 | HG01069.hp1 HG01256.hp1 HG01515.hp1 others(8): Show |
intron_variant | MODIFIER | c.1277-6623_1277-662 others(28): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125954 | ||||||
| chrX:68125954
|
T | TATATATA others(19): Show |
14 | a0001c0001t0001g0009a0001c0001t0001g0043a0001c0001t0001g0050others(11): Show | 14 | HG00609.hp1 HG02056.hp1 HG02129.hp1 others(11): Show |
intron_variant | MODIFIER | c.1277-6623_1277-662 others(30): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125954 | ||||||
| chrX:68125954
|
T | TATATATA others(21): Show |
6 | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0001g0044others(3): Show | 6 | HG01346.hp1 HG02738.hp1 HG03942.hp1 others(3): Show |
intron_variant | MODIFIER | c.1277-6623_1277-662 others(32): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125954 | ||||||
| chrX:68125954
|
T | TATATATA others(23): Show |
6 | a0001c0001t0001g0060a0001c0001t0001g0078a0001c0001t0001g0079others(3): Show | 6 | HG01074.hp1 HG02015.hp1 NA18960.hp1 others(3): Show |
intron_variant | MODIFIER | c.1277-6623_1277-662 others(34): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125954 | ||||||
| chrX:68125954
|
T | TATATATA others(25): Show |
3 | a0001c0001t0001g0046a0001c0001t0001g0082a0001c0001t0001g0090 | 3 | HG01433.hp1 HG01928.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.1277-6623_1277-662 others(36): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125954 | ||||||
| chrX:68125954
|
T | TATATATA others(27): Show |
1 | a0001c0001t0001g0077 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1277-6623_1277-662 others(38): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125954 | ||||||
| chrX:68125954
|
T | TATATATA others(29): Show |
1 | a0001c0001t0001g0041 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.1277-6623_1277-662 others(40): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125954 | ||||||
| chrX:68125954
|
T | TATATATA others(31): Show |
1 | a0001c0001t0024g0007 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.1277-6623_1277-662 others(42): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125954 | ||||||
| chrX:68125958
|
C | T | 13 | a0001c0001t0002g0021a0001c0001t0002g0134a0001c0001t0003g0018others(10): Show | 13 | HG02257.hp1 HG02257.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.1277-6626G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125958 | ||||||
| chrX:68125960
|
T | TAC | 6 | a0001c0001t0004g0005a0001c0001t0004g0010a0001c0001t0004g0011others(3): Show | 6 | HG00735.hp2 HG02280.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1277-6630_1277-662 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125960 | ||||||
| chrX:68125960
|
T | TATACATA others(1): Show |
4 | a0001c0001t0002g0021a0001c0001t0005g0110a0001c0001t0005g0137others(1): Show | 4 | HG02257.hp1 HG02257.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.1277-6629_1277-662 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125960 | ||||||
| chrX:68125960
|
T | TATATACA others(3): Show |
5 | a0001c0001t0003g0018a0001c0001t0003g0020a0001c0001t0003g0139others(2): Show | 5 | HG02258.hp1 HG02280.hp1 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.1277-6629_1277-662 others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125960 | ||||||
| chrX:68125960
|
T | TATATATA others(5): Show |
2 | a0001c0001t0005g0107a0001c0001t0005g0136 | 2 | HG02486.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.1277-6629_1277-662 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125960 | ||||||
| chrX:68125960
|
T | TATATATA others(7): Show |
1 | a0001c0001t0002g0134 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1277-6629_1277-662 others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125960 | ||||||
| chrX:68125960
|
T | TATATATA others(21): Show |
1 | a0001c0001t0026g0056 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1277-6629_1277-662 others(32): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68125960 | ||||||
| chrX:68126450
|
A | AT | 3 | a0001c0001t0004g0026a0001c0001t0020g0099a0001c0001t0021g0150 | 3 | HG00738.hp1 HG03471.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1277-7119dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68126450 | ||||||
| chrX:68126450
|
A | ATT | 2 | a0001c0001t0004g0030a0001c0001t0006g0013 | 2 | HG01081.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.1277-7120_1277-711 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68126450 | ||||||
| chrX:68126450
|
A | ATTT | 1 | a0001c0001t0004g0034 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1277-7121_1277-711 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68126450 | ||||||
| chrX:68126450
|
AT | A | 1 | a0001c0001t0001g0025 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1277-7119delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68126450 | ||||||
| chrX:68126523
|
C | A | 1 | a0001c0001t0005g0152 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1277-7191G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68126523 | ||||||
| chrX:68126592
|
G | A | 1 | a0001c0001t0004g0010 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1277-7260C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68126592 | ||||||
| chrX:68126701
|
T | C | 1 | a0001c0001t0001g0066 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1277-7369A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68126701 | ||||||
| chrX:68126715
|
G | A | 2 | a0001c0001t0001g0068a0001c0001t0001g0073 | 2 | NA19066.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.1277-7383C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68126715 | ||||||
| chrX:68127273
|
G | A | 1 | a0001c0001t0023g0037 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1277-7941C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68127273 | ||||||
| chrX:68127369
|
G | T | 1 | a0003c0004t0014g0102 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1277-8037C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68127369 | ||||||
| chrX:68127549
|
G | T | 61 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(58): Show | 61 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(58): Show |
intron_variant | MODIFIER | c.1277-8217C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68127549 | ||||||
| chrX:68127645
|
T | A | 1 | a0001c0001t0021g0150 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1277-8313A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68127645 | ||||||
| chrX:68127808
|
C | G | 57 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0043others(54): Show | 57 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(54): Show |
intron_variant | MODIFIER | c.1277-8476G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68127808 | ||||||
| chrX:68127906
|
C | CA | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1277-8575dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68127906 | ||||||
| chrX:68128080
|
C | T | 13 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(10): Show | 13 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1277-8748G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68128080 | ||||||
| chrX:68128371
|
TA | T | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1277-9040delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68128371 | ||||||
| chrX:68128430
|
T | A | 4 | a0001c0001t0007g0022a0001c0001t0007g0023a0001c0001t0007g0032others(1): Show | 4 | HG02559.hp1 HG03130.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.1277-9098A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68128430 | ||||||
| chrX:68128511
|
AGAGAG | A | 61 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(58): Show | 61 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(58): Show |
intron_variant | MODIFIER | c.1277-9184_1277-918 others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68128511 | ||||||
| chrX:68128535
|
T | C | 36 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0043others(33): Show | 36 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(33): Show |
intron_variant | MODIFIER | c.1277-9203A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68128535 | ||||||
| chrX:68128582
|
C | T | 1 | a0001c0001t0007g0022 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1277-9250G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68128582 | ||||||
| chrX:68128666
|
A | G | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1277-9334T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68128666 | ||||||
| chrX:68128785
|
A | G | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1277-9453T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68128785 | ||||||
| chrX:68129038
|
A | AAC | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1277-9708_1277-970 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68129038 | ||||||
| chrX:68129337
|
G | C | 63 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(60): Show | 63 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(60): Show |
intron_variant | MODIFIER | c.1277-10005C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68129337 | ||||||
| chrX:68129401
|
T | C | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1277-10069A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68129401 | ||||||
| chrX:68129700
|
T | C | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1277-10368A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68129700 | ||||||
| chrX:68130214
|
C | T | 151 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(148): Show | 151 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
intron_variant | MODIFIER | c.1277-10882G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68130214 | ||||||
| chrX:68130312
|
T | G | 2 | a0001c0001t0002g0054a0001c0001t0002g0055 | 2 | NA18983.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.1277-10980A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68130312 | ||||||
| chrX:68130630
|
C | G | 2 | a0001c0001t0003g0111a0001c0001t0003g0118 | 2 | HG02572.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.1277-11298G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68130630 | ||||||
| chrX:68130924
|
G | A | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1277-11592C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68130924 | ||||||
| chrX:68131190
|
T | TTTTA | 43 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0038others(40): Show | 43 | HG00735.hp2 HG00738.hp1 HG01099.hp1 others(40): Show |
intron_variant | MODIFIER | c.1277-11862_1277-11 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68131190 | ||||||
| chrX:68131190
|
T | TTTTATTT others(1): Show |
11 | a0001c0001t0001g0090a0001c0001t0002g0083a0001c0001t0004g0004others(8): Show | 11 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(8): Show |
intron_variant | MODIFIER | c.1277-11866_1277-11 others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68131190 | ||||||
| chrX:68131190
|
TTTTA | T | 14 | a0001c0001t0001g0046a0001c0001t0001g0053a0001c0001t0001g0140others(11): Show | 14 | HG00099.hp2 HG01106.hp1 HG01169.hp2 others(11): Show |
intron_variant | MODIFIER | c.1277-11862_1277-11 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68131190 | ||||||
| chrX:68131304
|
C | T | 3 | a0001c0001t0002g0108a0001c0001t0002g0130a0001c0001t0002g0131 | 3 | HG02965.hp1 HG03139.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1277-11972G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68131304 | ||||||
| chrX:68131366
|
C | A | 31 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(28): Show | 31 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(28): Show |
intron_variant | MODIFIER | c.1277-12034G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68131366 | ||||||
| chrX:68131660
|
T | C | 1 | a0001c0001t0008g0112 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1277-12328A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68131660 | ||||||
| chrX:68131703
|
G | A | 151 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(148): Show | 151 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
intron_variant | MODIFIER | c.1277-12371C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68131703 | ||||||
| chrX:68131933
|
G | A | 3 | a0001c0001t0001g0025a0001c0001t0001g0064a0001c0001t0001g0069 | 3 | HG00140.hp1 HG01515.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.1277-12601C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68131933 | ||||||
| chrX:68131935
|
A | G | 17 | a0001c0001t0003g0035a0001c0001t0003g0063a0001c0001t0003g0076others(14): Show | 17 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(14): Show |
intron_variant | MODIFIER | c.1277-12603T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68131935 | ||||||
| chrX:68132066
|
G | A | 2 | a0001c0001t0001g0052a0001c0001t0001g0145 | 2 | HG02135.hp1 NA18944.hp1 |
intron_variant | MODIFIER | c.1277-12734C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68132066 | ||||||
| chrX:68132097
|
A | T | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1277-12765T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68132097 | ||||||
| chrX:68132098
|
GTCTGATA others(1): Show |
G | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1277-12774_1277-12 others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68132098 | ||||||
| chrX:68132164
|
A | C | 1 | a0001c0001t0003g0091 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1277-12832T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68132164 | ||||||
| chrX:68132259
|
T | C | 1 | a0001c0001t0004g0034 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1277-12927A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68132259 | ||||||
| chrX:68132277
|
T | C | 151 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(148): Show | 151 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
intron_variant | MODIFIER | c.1277-12945A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68132277 | ||||||
| chrX:68132453
|
C | A | 1 | a0001c0001t0001g0147 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.1277-13121G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68132453 | ||||||
| chrX:68132561
|
A | AG | 1 | a0001c0001t0023g0037 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1277-13230dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68132561 | ||||||
| chrX:68132707
|
A | AAT | 2 | a0001c0001t0001g0015a0001c0001t0002g0057 | 2 | NA19004.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.1277-13376_1277-13 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68132707 | ||||||
| chrX:68132707
|
A | T | 6 | a0001c0001t0003g0122a0001c0001t0007g0023a0001c0001t0007g0032others(3): Show | 6 | HG01243.hp1 HG02451.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.1277-13375T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68132707 | ||||||
| chrX:68132739
|
C | CA | 132 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(129): Show | 132 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(129): Show |
intron_variant | MODIFIER | c.1277-13408dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68132739 | ||||||
| chrX:68132739
|
C | CAA | 11 | a0001c0001t0001g0066a0001c0001t0002g0133a0001c0001t0003g0151others(8): Show | 11 | HG01081.hp2 HG01891.hp1 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.1277-13409_1277-13 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68132739 | ||||||
| chrX:68132739
|
C | CAAA | 1 | a0001c0001t0004g0034 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1277-13410_1277-13 others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68132739 | ||||||
| chrX:68132777
|
T | C | 4 | a0001c0001t0004g0005a0001c0001t0004g0010a0001c0001t0004g0011others(1): Show | 4 | HG00735.hp2 HG02280.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.1277-13445A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68132777 | ||||||
| chrX:68132856
|
G | A | 2 | a0001c0001t0003g0081a0001c0001t0003g0091 | 2 | HG00099.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1277-13524C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68132856 | ||||||
| chrX:68132898
|
G | T | 2 | a0001c0001t0016g0119a0001c0001t0022g0103 | 2 | HG01081.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.1277-13566C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68132898 | ||||||
| chrX:68133109
|
G | A | 3 | a0001c0001t0003g0076a0002c0002t0001g0002a0002c0002t0003g0001 | 3 | HG01192.hp1 HG01358.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1277-13777C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68133109 | ||||||
| chrX:68133438
|
C | G | 1 | a0001c0001t0001g0050 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1277-14106G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68133438 | ||||||
| chrX:68133628
|
C | T | 150 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(147): Show | 150 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(147): Show |
intron_variant | MODIFIER | c.1277-14296G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68133628 | ||||||
| chrX:68133631
|
T | A | 1 | a0001c0001t0001g0071 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1277-14299A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68133631 | ||||||
| chrX:68134544
|
G | A | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1277-15212C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68134544 | ||||||
| chrX:68134645
|
C | T | 14 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(11): Show | 14 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.1277-15313G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68134645 | ||||||
| chrX:68135096
|
C | T | 61 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(58): Show | 61 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(58): Show |
intron_variant | MODIFIER | c.1277-15764G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68135096 | ||||||
| chrX:68135284
|
CAAAT | C | 14 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(11): Show | 14 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.1277-15956_1277-15 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68135284 | ||||||
| chrX:68135720
|
T | C | 4 | a0001c0001t0001g0027a0001c0001t0001g0041a0001c0001t0001g0092others(1): Show | 4 | NA18960.hp1 NA18994.hp1 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1277-16388A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68135720 | ||||||
| chrX:68136171
|
TTAAA | T | 1 | a0001c0001t0023g0037 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1277-16843_1277-16 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68136171 | ||||||
| chrX:68136179
|
ATG | A | 1 | a0001c0001t0003g0081 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1277-16849_1277-16 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68136179 | ||||||
| chrX:68136200
|
A | C | 56 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0043others(53): Show | 56 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(53): Show |
intron_variant | MODIFIER | c.1277-16868T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68136200 | ||||||
| chrX:68136291
|
C | CT | 9 | a0001c0001t0003g0122a0001c0001t0004g0034a0001c0001t0005g0138others(6): Show | 9 | HG01943.hp1 HG02055.hp1 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.1277-16960dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68136291 | ||||||
| chrX:68136291
|
C | CTT | 13 | a0001c0001t0002g0019a0001c0001t0002g0108a0001c0001t0002g0114others(10): Show | 13 | HG00735.hp2 HG01243.hp1 HG01255.hp1 others(10): Show |
intron_variant | MODIFIER | c.1277-16961_1277-16 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68136291 | ||||||
| chrX:68136291
|
C | CTTT | 3 | a0001c0001t0002g0014a0001c0001t0002g0130a0001c0001t0002g0135 | 3 | HG03098.hp1 HG03139.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.1277-16962_1277-16 others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68136291 | ||||||
| chrX:68136291
|
CT | C | 2 | a0001c0001t0016g0119a0001c0001t0022g0103 | 2 | HG01081.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.1277-16960delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68136291 | ||||||
| chrX:68136291
|
CTTTTTTT | C | 61 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(58): Show | 61 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(58): Show |
intron_variant | MODIFIER | c.1277-16966_1277-16 others(13): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68136291 | ||||||
| chrX:68136291
|
CTTTTTTT others(1): Show |
C | 1 | a0001c0001t0001g0025 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1277-16967_1277-16 others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68136291 | ||||||
| chrX:68136310
|
T | TTG | 11 | a0001c0001t0003g0035a0001c0001t0003g0063a0001c0001t0003g0076others(8): Show | 11 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(8): Show |
intron_variant | MODIFIER | c.1277-16979_1277-16 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68136310 | ||||||
| chrX:68136365
|
G | A | 1 | a0001c0001t0001g0016 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.1277-17033C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68136365 | ||||||
| chrX:68136594
|
C | T | 53 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0059others(50): Show | 53 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(50): Show |
intron_variant | MODIFIER | c.1277-17262G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68136594 | ||||||
| chrX:68137678
|
A | C | 7 | a0001c0001t0002g0021a0001c0001t0003g0139a0001c0001t0005g0110others(4): Show | 7 | HG02257.hp1 HG02257.hp2 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.1277-18346T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68137678 | ||||||
| chrX:68137824
|
T | C | 1 | a0001c0001t0003g0113 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1277-18492A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68137824 | ||||||
| chrX:68137923
|
C | T | 17 | a0001c0001t0002g0021a0001c0001t0002g0134a0001c0001t0003g0018others(14): Show | 17 | HG02257.hp1 HG02257.hp2 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.1277-18591G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68137923 | ||||||
| chrX:68138364
|
T | C | 1 | a0001c0001t0001g0043 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1277-19032A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68138364 | ||||||
| chrX:68138366
|
T | C | 66 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(63): Show | 66 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(63): Show |
intron_variant | MODIFIER | c.1277-19034A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68138366 | ||||||
| chrX:68138916
|
A | C | 66 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(63): Show | 66 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(63): Show |
intron_variant | MODIFIER | c.1277-19584T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68138916 | ||||||
| chrX:68139483
|
A | G | 15 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(12): Show | 15 | HG00735.hp2 HG01255.hp1 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.1277-20151T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68139483 | ||||||
| chrX:68139871
|
A | G | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1277-20539T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68139871 | ||||||
| chrX:68140064
|
A | G | 2 | a0001c0001t0016g0119a0001c0001t0022g0103 | 2 | HG01081.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.1277-20732T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68140064 | ||||||
| chrX:68140313
|
T | C | 1 | a0001c0001t0023g0037 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1277-20981A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68140313 | ||||||
| chrX:68140529
|
G | T | 2 | a0001c0001t0002g0054a0001c0001t0002g0055 | 2 | NA18983.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.1277-21197C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68140529 | ||||||
| chrX:68140586
|
C | T | 6 | a0001c0001t0003g0122a0001c0001t0007g0023a0001c0001t0007g0032others(3): Show | 6 | HG01243.hp1 HG02451.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.1277-21254G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68140586 | ||||||
| chrX:68140765
|
A | G | 1 | a0001c0001t0005g0152 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1277-21433T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68140765 | ||||||
| chrX:68141295
|
TAAGTAAA others(5): Show |
T | 150 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(147): Show | 150 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(147): Show |
intron_variant | MODIFIER | c.1277-21975_1277-21 others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68141295 | ||||||
| chrX:68141308
|
A | C | 150 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(147): Show | 150 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(147): Show |
intron_variant | MODIFIER | c.1277-21976T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68141308 | ||||||
| chrX:68141593
|
C | G | 3 | a0001c0001t0001g0017a0001c0001t0001g0070a0001c0001t0001g0086 | 3 | NA18971.hp1 NA19056.hp1 NA19060.hp1 |
intron_variant | MODIFIER | c.1277-22261G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68141593 | ||||||
| chrX:68141603
|
T | G | 5 | a0001c0001t0003g0151a0001c0001t0004g0094a0001c0001t0004g0095others(2): Show | 5 | HG01891.hp2 HG03209.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.1277-22271A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68141603 | ||||||
| chrX:68141903
|
TTAAA | T | 1 | a0001c0001t0004g0012 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1277-22575_1277-22 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68141903 | ||||||
| chrX:68141904
|
T | G | 1 | a0001c0001t0004g0011 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1277-22572A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68141904 | ||||||
| chrX:68141904
|
T | TAAAG | 1 | a0001c0001t0002g0057 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.1277-22576_1277-22 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68141904 | ||||||
| chrX:68141904
|
TAAAG | T | 11 | a0001c0001t0002g0006a0001c0001t0003g0076a0001c0001t0004g0010others(8): Show | 11 | HG00099.hp1 HG00738.hp1 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.1277-22576_1277-22 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68141904 | ||||||
| chrX:68141904
|
TAAAGAAA others(1): Show |
T | 33 | a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0073others(30): Show | 33 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(30): Show |
intron_variant | MODIFIER | c.1277-22580_1277-22 others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68141904 | ||||||
| chrX:68141904
|
TAAAGAAA others(5): Show |
T | 27 | a0001c0001t0001g0044a0001c0001t0001g0052a0001c0001t0001g0059others(24): Show | 27 | HG00280.hp1 HG01255.hp1 HG01261.hp1 others(24): Show |
intron_variant | MODIFIER | c.1277-22584_1277-22 others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68141904 | ||||||
| chrX:68141904
|
TAAAGAAA others(9): Show |
T | 24 | a0001c0001t0001g0027a0001c0001t0001g0039a0001c0001t0001g0041others(21): Show | 24 | HG00621.hp1 HG00642.hp1 HG00735.hp1 others(21): Show |
intron_variant | MODIFIER | c.1277-22588_1277-22 others(22): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68141904 | ||||||
| chrX:68141904
|
TAAAGAAA others(13): Show |
T | 36 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(33): Show | 36 | HG00140.hp1 HG00609.hp1 HG01069.hp1 others(33): Show |
intron_variant | MODIFIER | c.1277-22592_1277-22 others(26): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68141904 | ||||||
| chrX:68141904
|
TAAAGAAA others(17): Show |
T | 3 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0007g0022 | 3 | HG01167.hp1 HG01169.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1277-22596_1277-22 others(30): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68141904 | ||||||
| chrX:68141904
|
TAAAGAAA others(21): Show |
T | 1 | a0001c0001t0003g0109 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1277-22600_1277-22 others(34): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68141904 | ||||||
| chrX:68141960
|
G | T | 2 | a0001c0001t0004g0005a0001c0001t0019g0003 | 2 | HG00735.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1277-22628C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68141960 | ||||||
| chrX:68141981
|
C | T | 1 | a0001c0001t0001g0088 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1277-22649G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68141981 | ||||||
| chrX:68142258
|
G | A | 53 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0059others(50): Show | 53 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(50): Show |
intron_variant | MODIFIER | c.1277-22926C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68142258 | ||||||
| chrX:68142421
|
G | A | 3 | a0001c0001t0004g0030a0001c0001t0004g0034a0001c0001t0021g0150 | 3 | HG01081.hp2 HG02055.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1277-23089C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68142421 | ||||||
| chrX:68142802
|
C | T | 1 | a0001c0001t0001g0145 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.1277-23470G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68142802 | ||||||
| chrX:68143438
|
C | A | 1 | a0001c0001t0004g0010 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1277-24106G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68143438 | ||||||
| chrX:68143569
|
G | A | 20 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0045others(17): Show | 20 | HG00609.hp1 HG01256.hp1 HG02056.hp1 others(17): Show |
intron_variant | MODIFIER | c.1277-24237C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68143569 | ||||||
| chrX:68143663
|
A | G | 1 | a0001c0001t0003g0065 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1277-24331T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68143663 | ||||||
| chrX:68143959
|
A | G | 57 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0043others(54): Show | 57 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(54): Show |
intron_variant | MODIFIER | c.1277-24627T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68143959 | ||||||
| chrX:68143988
|
G | A | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1277-24656C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68143988 | ||||||
| chrX:68144124
|
C | T | 1 | a0001c0001t0008g0112 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1277-24792G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68144124 | ||||||
| chrX:68144220
|
G | A | 17 | a0001c0001t0003g0035a0001c0001t0003g0063a0001c0001t0003g0076others(14): Show | 17 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(14): Show |
intron_variant | MODIFIER | c.1277-24888C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68144220 | ||||||
| chrX:68144461
|
G | A | 57 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0043others(54): Show | 57 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(54): Show |
intron_variant | MODIFIER | c.1277-25129C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68144461 | ||||||
| chrX:68145273
|
T | C | 58 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0043others(55): Show | 58 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(55): Show |
intron_variant | MODIFIER | c.1277-25941A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68145273 | ||||||
| chrX:68145330
|
T | C | 6 | a0001c0001t0003g0122a0001c0001t0007g0023a0001c0001t0007g0032others(3): Show | 6 | HG01243.hp1 HG02451.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.1277-25998A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68145330 | ||||||
| chrX:68145422
|
G | A | 1 | a0001c0001t0023g0037 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1277-26090C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68145422 | ||||||
| chrX:68145726
|
AT | A | 1 | a0001c0001t0001g0044 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1277-26395delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68145726 | ||||||
| chrX:68145728
|
T | G | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1277-26396A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68145728 | ||||||
| chrX:68145896
|
AC | A | 2 | a0001c0001t0004g0011a0001c0001t0004g0012 | 2 | HG02280.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.1277-26565delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68145896 | ||||||
| chrX:68145945
|
G | T | 1 | a0001c0001t0002g0057 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.1277-26613C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68145945 | ||||||
| chrX:68146092
|
G | A | 1 | a0001c0001t0001g0028 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1277-26760C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68146092 | ||||||
| chrX:68146163
|
G | A | 1 | a0001c0001t0001g0141 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1277-26831C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68146163 | ||||||
| chrX:68146554
|
T | A | 1 | a0001c0001t0001g0052 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1277-27222A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68146554 | ||||||
| chrX:68146676
|
G | T | 6 | a0001c0001t0003g0035a0001c0001t0003g0076a0001c0001t0003g0100others(3): Show | 6 | HG01099.hp1 HG01106.hp1 HG01192.hp1 others(3): Show |
intron_variant | MODIFIER | c.1277-27344C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68146676 | ||||||
| chrX:68146735
|
A | G | 1 | a0001c0001t0003g0109 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1277-27403T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68146735 | ||||||
| chrX:68146813
|
T | C | 1 | a0001c0001t0001g0077 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1277-27481A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68146813 | ||||||
| chrX:68146817
|
TGTGTGTC others(19): Show |
T | 57 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0043others(54): Show | 57 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(54): Show |
intron_variant | MODIFIER | c.1277-27511_1277-27 others(32): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68146817 | ||||||
| chrX:68147545
|
G | T | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1277-28213C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68147545 | ||||||
| chrX:68148029
|
T | A | 17 | a0001c0001t0003g0035a0001c0001t0003g0063a0001c0001t0003g0076others(14): Show | 17 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(14): Show |
intron_variant | MODIFIER | c.1277-28697A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68148029 | ||||||
| chrX:68148136
|
A | T | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1277-28804T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68148136 | ||||||
| chrX:68148385
|
G | A | 1 | a0001c0001t0001g0066 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1277-29053C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68148385 | ||||||
| chrX:68148419
|
C | T | 18 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0059others(15): Show | 18 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(15): Show |
intron_variant | MODIFIER | c.1277-29087G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68148419 | ||||||
| chrX:68148527
|
A | T | 66 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(63): Show | 66 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(63): Show |
intron_variant | MODIFIER | c.1277-29195T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68148527 | ||||||
| chrX:68148834
|
A | G | 1 | a0001c0001t0001g0015 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.1277-29502T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68148834 | ||||||
| chrX:68148999
|
C | A | 1 | a0001c0001t0001g0141 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1277-29667G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68148999 | ||||||
| chrX:68149200
|
T | A | 66 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(63): Show | 66 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(63): Show |
intron_variant | MODIFIER | c.1277-29868A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68149200 | ||||||
| chrX:68149277
|
A | G | 1 | a0001c0001t0003g0018 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1277-29945T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68149277 | ||||||
| chrX:68149802
|
C | CA | 10 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0029others(7): Show | 10 | HG01256.hp1 HG02129.hp1 NA18971.hp1 others(7): Show |
intron_variant | MODIFIER | c.1277-30471dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68149802 | ||||||
| chrX:68149802
|
CA | C | 11 | a0001c0001t0002g0021a0001c0001t0003g0018a0001c0001t0003g0020others(8): Show | 11 | HG02257.hp1 HG02257.hp2 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.1277-30471delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68149802 | ||||||
| chrX:68149994
|
C | A | 2 | a0001c0001t0002g0054a0001c0001t0002g0055 | 2 | NA18983.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.1277-30662G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68149994 | ||||||
| chrX:68150398
|
C | T | 1 | a0001c0001t0003g0139 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1277-31066G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68150398 | ||||||
| chrX:68150400
|
G | A | 3 | a0001c0001t0004g0010a0001c0001t0004g0011a0001c0001t0004g0012 | 3 | HG02280.hp2 HG02451.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.1277-31068C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68150400 | ||||||
| chrX:68150421
|
CATA | C | 1 | a0001c0001t0003g0113 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1277-31092_1277-31 others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68150421 | ||||||
| chrX:68150429
|
T | G | 1 | a0001c0001t0004g0005 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1277-31097A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68150429 | ||||||
| chrX:68150526
|
TACATCTG others(1): Show |
T | 1 | a0001c0001t0026g0056 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1277-31202_1277-31 others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68150526 | ||||||
| chrX:68150608
|
C | T | 2 | a0001c0001t0006g0120a0001c0001t0006g0121 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.1277-31276G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68150608 | ||||||
| chrX:68150676
|
A | G | 5 | a0001c0001t0004g0004a0001c0001t0004g0026a0001c0001t0004g0030others(2): Show | 5 | HG01081.hp2 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.1277-31344T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68150676 | ||||||
| chrX:68150799
|
G | C | 14 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(11): Show | 14 | HG00735.hp2 HG01255.hp1 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.1277-31467C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68150799 | ||||||
| chrX:68150925
|
T | G | 1 | a0001c0001t0001g0071 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1277-31593A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68150925 | ||||||
| chrX:68151120
|
G | C | 151 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(148): Show | 151 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
intron_variant | MODIFIER | c.1277-31788C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68151120 | ||||||
| chrX:68151635
|
C | T | 17 | a0001c0001t0003g0035a0001c0001t0003g0063a0001c0001t0003g0076others(14): Show | 17 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(14): Show |
intron_variant | MODIFIER | c.1277-32303G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68151635 | ||||||
| chrX:68151960
|
G | A | 66 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0059others(63): Show | 66 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(63): Show |
intron_variant | MODIFIER | c.1277-32628C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68151960 | ||||||
| chrX:68152013
|
C | A | 2 | a0001c0001t0004g0011a0001c0001t0004g0012 | 2 | HG02280.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.1277-32681G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68152013 | ||||||
| chrX:68152454
|
C | CT | 22 | a0001c0001t0002g0021a0001c0001t0002g0134a0001c0001t0003g0018others(19): Show | 22 | HG00735.hp2 HG01081.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.1277-33123dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68152454 | ||||||
| chrX:68152454
|
CT | C | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1277-33123delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68152454 | ||||||
| chrX:68152731
|
C | T | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1277-33399G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68152731 | ||||||
| chrX:68152732
|
C | A | 67 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0059others(64): Show | 67 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(64): Show |
intron_variant | MODIFIER | c.1277-33400G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68152732 | ||||||
| chrX:68153210
|
C | CA | 3 | a0001c0001t0001g0098a0001c0001t0001g0147a0001c0001t0003g0122 | 3 | HG01934.hp1 NA18955.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1277-33879dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68153210 | ||||||
| chrX:68153210
|
CA | C | 67 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0059others(64): Show | 67 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(64): Show |
intron_variant | MODIFIER | c.1277-33879delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68153210 | ||||||
| chrX:68153269
|
C | T | 3 | a0001c0001t0007g0023a0001c0001t0007g0032a0001c0001t0007g0033 | 3 | HG02559.hp1 HG03130.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1277-33937G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68153269 | ||||||
| chrX:68153572
|
G | A | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1277-34240C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68153572 | ||||||
| chrX:68153854
|
T | C | 34 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(31): Show | 34 | HG00099.hp2 HG00735.hp2 HG01099.hp1 others(31): Show |
intron_variant | MODIFIER | c.1277-34522A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68153854 | ||||||
| chrX:68153857
|
T | TA | 2 | a0001c0001t0002g0054a0001c0001t0002g0055 | 2 | NA18983.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.1277-34526dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68153857 | ||||||
| chrX:68153919
|
T | C | 1 | a0001c0001t0001g0044 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1277-34587A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68153919 | ||||||
| chrX:68153939
|
A | G | 38 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0043others(35): Show | 38 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(35): Show |
intron_variant | MODIFIER | c.1277-34607T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68153939 | ||||||
| chrX:68153974
|
C | T | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1277-34642G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68153974 | ||||||
| chrX:68154501
|
T | C | 1 | a0001c0001t0001g0058 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1277-35169A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68154501 | ||||||
| chrX:68154558
|
C | G | 78 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(75): Show | 78 | HG00099.hp2 HG00140.hp1 HG00609.hp1 others(75): Show |
intron_variant | MODIFIER | c.1277-35226G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68154558 | ||||||
| chrX:68154805
|
T | C | 1 | a0001c0001t0013g0042 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1277-35473A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68154805 | ||||||
| chrX:68154861
|
C | CCA | 70 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0017others(67): Show | 70 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(67): Show |
intron_variant | MODIFIER | c.1277-35531_1277-35 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68154861 | ||||||
| chrX:68154861
|
C | CCACA | 22 | a0001c0001t0001g0027a0001c0001t0001g0051a0001c0001t0001g0143others(19): Show | 22 | HG00621.hp1 HG00735.hp2 HG00738.hp1 others(19): Show |
intron_variant | MODIFIER | c.1277-35533_1277-35 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68154861 | ||||||
| chrX:68154861
|
C | CCACACA | 23 | a0001c0001t0001g0015a0001c0001t0001g0043a0001c0001t0001g0059others(20): Show | 23 | HG00099.hp1 HG00673.hp1 HG01258.hp1 others(20): Show |
intron_variant | MODIFIER | c.1277-35535_1277-35 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68154861 | ||||||
| chrX:68154861
|
C | CCACACAC others(1): Show |
14 | a0001c0001t0001g0060a0001c0001t0002g0021a0001c0001t0002g0054others(11): Show | 14 | HG02015.hp1 HG02257.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.1277-35537_1277-35 others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68154861 | ||||||
| chrX:68154861
|
C | CCACACAC others(3): Show |
1 | a0001c0001t0005g0136 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1277-35539_1277-35 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68154861 | ||||||
| chrX:68154861
|
C | CCACACAC others(5): Show |
1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1277-35541_1277-35 others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68154861 | ||||||
| chrX:68154861
|
CCA | C | 1 | a0001c0001t0001g0016 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.1277-35531_1277-35 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68154861 | ||||||
| chrX:68154861
|
CCACA | C | 11 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(8): Show | 11 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.1277-35533_1277-35 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68154861 | ||||||
| chrX:68154861
|
CCACACA | C | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1277-35535_1277-35 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68154861 | ||||||
| chrX:68154861
|
CCACACAC others(5): Show |
C | 4 | a0001c0001t0002g0116a0001c0001t0002g0127a0001c0001t0002g0135others(1): Show | 4 | HG02630.hp2 HG03540.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.1277-35541_1277-35 others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68154861 | ||||||
| chrX:68154986
|
A | G | 57 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0043others(54): Show | 57 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(54): Show |
intron_variant | MODIFIER | c.1277-35654T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68154986 | ||||||
| chrX:68155037
|
G | A | 2 | a0001c0001t0001g0079a0001c0001t0001g0090 | 2 | HG01433.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.1277-35705C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68155037 | ||||||
| chrX:68155123
|
G | C | 1 | a0001c0001t0026g0056 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1277-35791C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68155123 | ||||||
| chrX:68155237
|
CA | C | 1 | a0001c0001t0001g0038 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1277-35906delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68155237 | ||||||
| chrX:68155359
|
T | A | 13 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(10): Show | 13 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1277-36027A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68155359 | ||||||
| chrX:68155571
|
C | T | 2 | a0001c0001t0002g0054a0001c0001t0002g0055 | 2 | NA18983.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.1277-36239G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68155571 | ||||||
| chrX:68155616
|
T | C | 57 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0043others(54): Show | 57 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(54): Show |
intron_variant | MODIFIER | c.1277-36284A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68155616 | ||||||
| chrX:68156001
|
T | C | 16 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(13): Show | 16 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(13): Show |
intron_variant | MODIFIER | c.1277-36669A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68156001 | ||||||
| chrX:68156213
|
T | C | 151 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(148): Show | 151 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
intron_variant | MODIFIER | c.1276+36706A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68156213 | ||||||
| chrX:68156282
|
T | A | 1 | a0001c0001t0003g0035 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1276+36637A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68156282 | ||||||
| chrX:68156304
|
T | TA | 34 | a0001c0001t0002g0021a0001c0001t0002g0134a0001c0001t0003g0018others(31): Show | 34 | HG00735.hp2 HG00738.hp1 HG01099.hp1 others(31): Show |
intron_variant | MODIFIER | c.1276+36614dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68156304 | ||||||
| chrX:68156304
|
T | TAA | 11 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(8): Show | 11 | HG01255.hp1 HG02109.hp2 HG02922.hp1 others(8): Show |
intron_variant | MODIFIER | c.1276+36613_1276+36 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68156304 | ||||||
| chrX:68156304
|
T | TAAA | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1276+36612_1276+36 others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68156304 | ||||||
| chrX:68156478
|
C | T | 82 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0059others(79): Show | 82 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(79): Show |
intron_variant | MODIFIER | c.1276+36441G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68156478 | ||||||
| chrX:68156572
|
A | C | 3 | a0001c0001t0001g0041a0001c0001t0001g0092a0001c0001t0024g0007 | 3 | NA18960.hp1 NA19000.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.1276+36347T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68156572 | ||||||
| chrX:68157008
|
A | G | 8 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(5): Show | 8 | HG02109.hp2 HG02145.hp1 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.1276+35911T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68157008 | ||||||
| chrX:68157085
|
T | G | 12 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(9): Show | 12 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.1276+35834A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68157085 | ||||||
| chrX:68157145
|
C | T | 1 | a0001c0001t0003g0101 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1276+35774G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68157145 | ||||||
| chrX:68157719
|
CAAAAT | C | 79 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(76): Show | 79 | HG00099.hp2 HG00140.hp1 HG00609.hp1 others(76): Show |
intron_variant | MODIFIER | c.1276+35195_1276+35 others(11): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68157719 | ||||||
| chrX:68157759
|
C | G | 2 | a0001c0001t0001g0068a0001c0001t0001g0073 | 2 | NA19066.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.1276+35160G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68157759 | ||||||
| chrX:68157819
|
A | C | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1276+35100T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68157819 | ||||||
| chrX:68158049
|
C | T | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1276+34870G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68158049 | ||||||
| chrX:68158103
|
T | C | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1276+34816A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68158103 | ||||||
| chrX:68158447
|
C | T | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1276+34472G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68158447 | ||||||
| chrX:68158664
|
C | G | 3 | a0001c0001t0001g0045a0001c0001t0001g0078a0001c0001t0019g0003 | 3 | HG02809.hp2 NA19085.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.1276+34255G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68158664 | ||||||
| chrX:68159550
|
T | C | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1276+33369A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68159550 | ||||||
| chrX:68159606
|
C | A | 33 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0059others(30): Show | 33 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(30): Show |
intron_variant | MODIFIER | c.1276+33313G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68159606 | ||||||
| chrX:68159992
|
A | C | 1 | a0001c0001t0026g0056 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1276+32927T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68159992 | ||||||
| chrX:68159997
|
T | TA | 40 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0043others(37): Show | 40 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(37): Show |
intron_variant | MODIFIER | c.1276+32921dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68159997 | ||||||
| chrX:68159997
|
TA | T | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1276+32921delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68159997 | ||||||
| chrX:68160384
|
G | A | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1276+32535C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68160384 | ||||||
| chrX:68160654
|
A | G | 59 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0043others(56): Show | 59 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(56): Show |
intron_variant | MODIFIER | c.1276+32265T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68160654 | ||||||
| chrX:68160680
|
C | T | 10 | a0001c0001t0003g0035a0001c0001t0003g0063a0001c0001t0003g0076others(7): Show | 10 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(7): Show |
intron_variant | MODIFIER | c.1276+32239G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68160680 | ||||||
| chrX:68160682
|
T | A | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1276+32237A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68160682 | ||||||
| chrX:68160944
|
A | G | 1 | a0001c0001t0017g0036 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1276+31975T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68160944 | ||||||
| chrX:68161143
|
T | C | 54 | a0001c0001t0001g0015a0001c0001t0001g0040a0001c0001t0001g0059others(51): Show | 54 | HG00099.hp1 HG00280.hp1 HG00673.hp1 others(51): Show |
intron_variant | MODIFIER | c.1276+31776A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68161143 | ||||||
| chrX:68161222
|
TAA | T | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1276+31695_1276+31 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68161222 | ||||||
| chrX:68161299
|
T | G | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1276+31620A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68161299 | ||||||
| chrX:68161338
|
C | A | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1276+31581G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68161338 | ||||||
| chrX:68161357
|
G | A | 12 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(9): Show | 12 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.1276+31562C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68161357 | ||||||
| chrX:68161386
|
C | T | 2 | a0001c0001t0001g0045a0001c0001t0001g0078 | 2 | NA19085.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.1276+31533G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68161386 | ||||||
| chrX:68161606
|
GA | G | 1 | a0001c0001t0003g0109 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1276+31312delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68161606 | ||||||
| chrX:68161747
|
T | C | 14 | a0001c0001t0003g0035a0001c0001t0003g0063a0001c0001t0003g0076others(11): Show | 14 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(11): Show |
intron_variant | MODIFIER | c.1276+31172A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68161747 | ||||||
| chrX:68161940
|
G | T | 2 | a0001c0001t0001g0068a0001c0001t0001g0073 | 2 | NA19066.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.1276+30979C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68161940 | ||||||
| chrX:68162059
|
C | A | 43 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(40): Show | 43 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(40): Show |
intron_variant | MODIFIER | c.1276+30860G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68162059 | ||||||
| chrX:68162206
|
C | G | 2 | a0001c0001t0006g0120a0001c0001t0006g0121 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.1276+30713G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68162206 | ||||||
| chrX:68162348
|
T | C | 1 | a0001c0001t0001g0075 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1276+30571A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68162348 | ||||||
| chrX:68162448
|
C | T | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1276+30471G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68162448 | ||||||
| chrX:68162470
|
A | C | 50 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(47): Show | 50 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(47): Show |
intron_variant | MODIFIER | c.1276+30449T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68162470 | ||||||
| chrX:68162493
|
T | A | 50 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(47): Show | 50 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(47): Show |
intron_variant | MODIFIER | c.1276+30426A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68162493 | ||||||
| chrX:68162575
|
G | A | 1 | a0001c0001t0001g0048 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1276+30344C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68162575 | ||||||
| chrX:68162890
|
C | A | 3 | a0001c0001t0001g0090a0001c0001t0009g0128a0001c0001t0009g0129 | 3 | HG01243.hp1 HG01433.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1276+30029G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68162890 | ||||||
| chrX:68163049
|
C | T | 50 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(47): Show | 50 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(47): Show |
intron_variant | MODIFIER | c.1276+29870G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68163049 | ||||||
| chrX:68163282
|
A | AT | 11 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(8): Show | 11 | HG00099.hp1 HG00280.hp1 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.1276+29636dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68163282 | ||||||
| chrX:68163320
|
T | C | 50 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(47): Show | 50 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(47): Show |
intron_variant | MODIFIER | c.1276+29599A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68163320 | ||||||
| chrX:68163428
|
C | CTG | 2 | a0001c0001t0019g0003a0001c0001t0020g0099 | 2 | HG00738.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.1276+29489_1276+29 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68163428 | ||||||
| chrX:68163428
|
CTG | C | 97 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(94): Show | 97 | HG00099.hp2 HG00140.hp1 HG00609.hp1 others(94): Show |
intron_variant | MODIFIER | c.1276+29489_1276+29 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68163428 | ||||||
| chrX:68163438
|
GT | G | 1 | a0001c0001t0023g0037 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1276+29480delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68163438 | ||||||
| chrX:68163456
|
GTGTATA | G | 9 | a0001c0001t0003g0020a0001c0001t0003g0109a0001c0001t0003g0139others(6): Show | 9 | HG02258.hp1 HG02486.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.1276+29457_1276+29 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68163456 | ||||||
| chrX:68163458
|
GTA | G | 32 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(29): Show | 32 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(29): Show |
intron_variant | MODIFIER | c.1276+29459_1276+29 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68163458 | ||||||
| chrX:68163458
|
GTATA | G | 2 | a0001c0001t0002g0021a0001c0001t0003g0018 | 2 | HG02257.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.1276+29457_1276+29 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68163458 | ||||||
| chrX:68163460
|
A | G | 5 | a0001c0001t0004g0094a0001c0001t0004g0095a0001c0001t0006g0120others(2): Show | 5 | HG01167.hp1 HG01169.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.1276+29459T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68163460 | ||||||
| chrX:68163462
|
A | G | 37 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(34): Show | 37 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(34): Show |
intron_variant | MODIFIER | c.1276+29457T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68163462 | ||||||
| chrX:68163751
|
A | C | 1 | a0001c0001t0004g0026 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1276+29168T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68163751 | ||||||
| chrX:68163762
|
A | G | 13 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(10): Show | 13 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1276+29157T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68163762 | ||||||
| chrX:68163934
|
A | G | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1276+28985T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68163934 | ||||||
| chrX:68164009
|
C | T | 1 | a0001c0001t0001g0046 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.1276+28910G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68164009 | ||||||
| chrX:68164058
|
C | T | 78 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(75): Show | 78 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(75): Show |
intron_variant | MODIFIER | c.1276+28861G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68164058 | ||||||
| chrX:68164249
|
C | G | 1 | a0002c0002t0001g0002 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1276+28670G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68164249 | ||||||
| chrX:68164373
|
A | G | 51 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(48): Show | 51 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(48): Show |
intron_variant | MODIFIER | c.1276+28546T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68164373 | ||||||
| chrX:68165015
|
C | T | 14 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(11): Show | 14 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.1276+27904G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68165015 | ||||||
| chrX:68165029
|
A | G | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1276+27890T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68165029 | ||||||
| chrX:68165090
|
T | C | 151 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(148): Show | 151 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
intron_variant | MODIFIER | c.1276+27829A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68165090 | ||||||
| chrX:68165130
|
T | C | 77 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(74): Show | 77 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(74): Show |
intron_variant | MODIFIER | c.1276+27789A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68165130 | ||||||
| chrX:68165258
|
C | G | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1276+27661G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68165258 | ||||||
| chrX:68165280
|
A | C | 2 | a0001c0001t0009g0128a0001c0001t0009g0129 | 2 | HG01243.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1276+27639T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68165280 | ||||||
| chrX:68165415
|
G | GTA | 151 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(148): Show | 151 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
intron_variant | MODIFIER | c.1276+27503_1276+27 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68165415 | ||||||
| chrX:68165495
|
G | T | 47 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(44): Show | 47 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(44): Show |
intron_variant | MODIFIER | c.1276+27424C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68165495 | ||||||
| chrX:68165717
|
C | T | 14 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(11): Show | 14 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.1276+27202G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68165717 | ||||||
| chrX:68165755
|
C | T | 1 | a0001c0001t0001g0025 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1276+27164G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68165755 | ||||||
| chrX:68166002
|
G | C | 14 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(11): Show | 14 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.1276+26917C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68166002 | ||||||
| chrX:68166102
|
A | C | 21 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(18): Show | 21 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.1276+26817T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68166102 | ||||||
| chrX:68166158
|
A | C | 21 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(18): Show | 21 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.1276+26761T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68166158 | ||||||
| chrX:68166401
|
G | C | 1 | a0001c0001t0005g0107 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1276+26518C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68166401 | ||||||
| chrX:68166403
|
G | A | 19 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(16): Show | 19 | HG00099.hp1 HG00280.hp1 HG01081.hp1 others(16): Show |
intron_variant | MODIFIER | c.1276+26516C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68166403 | ||||||
| chrX:68166448
|
C | T | 2 | a0001c0001t0006g0120a0001c0001t0006g0121 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.1276+26471G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68166448 | ||||||
| chrX:68166685
|
C | T | 2 | a0001c0001t0003g0109a0001c0001t0003g0113 | 2 | HG02615.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1276+26234G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68166685 | ||||||
| chrX:68166697
|
T | C | 150 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(147): Show | 150 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(147): Show |
intron_variant | MODIFIER | c.1276+26222A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68166697 | ||||||
| chrX:68167216
|
CA | C | 1 | a0001c0001t0015g0148 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.1276+25702delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68167216 | ||||||
| chrX:68167246
|
T | C | 151 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(148): Show | 151 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
intron_variant | MODIFIER | c.1276+25673A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68167246 | ||||||
| chrX:68167327
|
T | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1276+25592A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68167327 | ||||||
| chrX:68167460
|
A | C | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1276+25459T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68167460 | ||||||
| chrX:68167517
|
G | A | 150 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(147): Show | 150 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(147): Show |
intron_variant | MODIFIER | c.1276+25402C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68167517 | ||||||
| chrX:68167528
|
T | G | 7 | a0001c0001t0003g0091a0001c0001t0003g0122a0001c0001t0007g0023others(4): Show | 7 | HG00099.hp2 HG01243.hp1 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.1276+25391A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68167528 | ||||||
| chrX:68167541
|
G | A | 51 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(48): Show | 51 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(48): Show |
intron_variant | MODIFIER | c.1276+25378C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68167541 | ||||||
| chrX:68167623
|
G | T | 1 | a0001c0001t0005g0137 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1276+25296C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68167623 | ||||||
| chrX:68167667
|
A | G | 21 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(18): Show | 21 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.1276+25252T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68167667 | ||||||
| chrX:68167721
|
G | GTA | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1276+25196_1276+25 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68167721 | ||||||
| chrX:68167721
|
GTA | G | 72 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(69): Show | 72 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(69): Show |
intron_variant | MODIFIER | c.1276+25196_1276+25 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68167721 | ||||||
| chrX:68167723
|
A | G | 78 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(75): Show | 78 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(75): Show |
intron_variant | MODIFIER | c.1276+25196T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68167723 | ||||||
| chrX:68167725
|
A | G | 1 | a0001c0001t0002g0134 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1276+25194T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68167725 | ||||||
| chrX:68167795
|
G | C | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1276+25124C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68167795 | ||||||
| chrX:68167894
|
T | C | 51 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(48): Show | 51 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(48): Show |
intron_variant | MODIFIER | c.1276+25025A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68167894 | ||||||
| chrX:68168011
|
G | C | 51 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(48): Show | 51 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(48): Show |
intron_variant | MODIFIER | c.1276+24908C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68168011 | ||||||
| chrX:68168033
|
T | G | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1276+24886A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68168033 | ||||||
| chrX:68168104
|
C | A | 1 | a0002c0002t0003g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1276+24815G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68168104 | ||||||
| chrX:68168107
|
T | C | 1 | a0002c0002t0003g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1276+24812A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68168107 | ||||||
| chrX:68168138
|
C | A | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1276+24781G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68168138 | ||||||
| chrX:68168147
|
A | G | 51 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(48): Show | 51 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(48): Show |
intron_variant | MODIFIER | c.1276+24772T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68168147 | ||||||
| chrX:68168148
|
C | T | 1 | a0001c0001t0001g0052 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1276+24771G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68168148 | ||||||
| chrX:68168223
|
C | T | 29 | a0001c0001t0002g0021a0001c0001t0002g0134a0001c0001t0003g0018others(26): Show | 29 | HG01081.hp2 HG01099.hp1 HG01106.hp1 others(26): Show |
intron_variant | MODIFIER | c.1276+24696G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68168223 | ||||||
| chrX:68168266
|
C | A | 51 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(48): Show | 51 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(48): Show |
intron_variant | MODIFIER | c.1276+24653G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68168266 | ||||||
| chrX:68168342
|
A | T | 1 | a0001c0001t0005g0136 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1276+24577T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68168342 | ||||||
| chrX:68168426
|
G | A | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1276+24493C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68168426 | ||||||
| chrX:68168515
|
T | G | 51 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(48): Show | 51 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(48): Show |
intron_variant | MODIFIER | c.1276+24404A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68168515 | ||||||
| chrX:68168654
|
A | C | 20 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(17): Show | 20 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(17): Show |
intron_variant | MODIFIER | c.1276+24265T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68168654 | ||||||
| chrX:68168701
|
T | C | 51 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(48): Show | 51 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(48): Show |
intron_variant | MODIFIER | c.1276+24218A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68168701 | ||||||
| chrX:68168933
|
AC | A | 1 | a0001c0001t0015g0148 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.1276+23985delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68168933 | ||||||
| chrX:68168971
|
G | T | 7 | a0001c0001t0003g0035a0001c0001t0003g0063a0001c0001t0003g0076others(4): Show | 7 | HG01099.hp1 HG01106.hp1 HG01192.hp1 others(4): Show |
intron_variant | MODIFIER | c.1276+23948C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68168971 | ||||||
| chrX:68169016
|
T | C | 51 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(48): Show | 51 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(48): Show |
intron_variant | MODIFIER | c.1276+23903A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68169016 | ||||||
| chrX:68169056
|
G | A | 1 | a0001c0001t0001g0143 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1276+23863C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68169056 | ||||||
| chrX:68169057
|
C | G | 1 | a0001c0001t0001g0143 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1276+23862G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68169057 | ||||||
| chrX:68169168
|
T | G | 13 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(10): Show | 13 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1276+23751A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68169168 | ||||||
| chrX:68169227
|
C | T | 30 | a0001c0001t0002g0021a0001c0001t0002g0134a0001c0001t0003g0018others(27): Show | 30 | HG01081.hp2 HG01099.hp1 HG01106.hp1 others(27): Show |
intron_variant | MODIFIER | c.1276+23692G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68169227 | ||||||
| chrX:68169311
|
C | G | 14 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(11): Show | 14 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.1276+23608G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68169311 | ||||||
| chrX:68169321
|
G | A | 18 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(15): Show | 18 | HG00099.hp1 HG00280.hp1 HG01081.hp1 others(15): Show |
intron_variant | MODIFIER | c.1276+23598C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68169321 | ||||||
| chrX:68169412
|
C | T | 100 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(97): Show | 100 | HG00099.hp2 HG00140.hp1 HG00609.hp1 others(97): Show |
intron_variant | MODIFIER | c.1276+23507G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68169412 | ||||||
| chrX:68169420
|
G | GA | 1 | a0001c0001t0002g0133 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1276+23498dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68169420 | ||||||
| chrX:68169463
|
G | A | 13 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(10): Show | 13 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1276+23456C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68169463 | ||||||
| chrX:68169517
|
A | G | 44 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(41): Show | 44 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(41): Show |
intron_variant | MODIFIER | c.1276+23402T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68169517 | ||||||
| chrX:68169572
|
C | T | 1 | a0002c0002t0003g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1276+23347G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68169572 | ||||||
| chrX:68169622
|
C | T | 1 | a0001c0001t0017g0036 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1276+23297G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68169622 | ||||||
| chrX:68169626
|
A | G | 150 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(147): Show | 150 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(147): Show |
intron_variant | MODIFIER | c.1276+23293T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68169626 | ||||||
| chrX:68169678
|
G | A | 32 | a0001c0001t0002g0021a0001c0001t0002g0134a0001c0001t0003g0018others(29): Show | 32 | HG00735.hp2 HG01081.hp2 HG01099.hp1 others(29): Show |
intron_variant | MODIFIER | c.1276+23241C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68169678 | ||||||
| chrX:68169801
|
C | A | 51 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(48): Show | 51 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(48): Show |
intron_variant | MODIFIER | c.1276+23118G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68169801 | ||||||
| chrX:68169803
|
T | C | 51 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(48): Show | 51 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(48): Show |
intron_variant | MODIFIER | c.1276+23116A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68169803 | ||||||
| chrX:68169907
|
C | T | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1276+23012G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68169907 | ||||||
| chrX:68169916
|
A | C | 21 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(18): Show | 21 | HG00099.hp2 HG01243.hp1 HG01255.hp1 others(18): Show |
intron_variant | MODIFIER | c.1276+23003T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68169916 | ||||||
| chrX:68169986
|
G | A | 14 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(11): Show | 14 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.1276+22933C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68169986 | ||||||
| chrX:68170168
|
A | G | 1 | a0001c0001t0022g0103 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.1276+22751T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68170168 | ||||||
| chrX:68170212
|
C | A | 14 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(11): Show | 14 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.1276+22707G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68170212 | ||||||
| chrX:68170259
|
A | G | 32 | a0001c0001t0002g0021a0001c0001t0002g0134a0001c0001t0003g0018others(29): Show | 32 | HG00735.hp2 HG01081.hp2 HG01099.hp1 others(29): Show |
intron_variant | MODIFIER | c.1276+22660T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68170259 | ||||||
| chrX:68170338
|
T | A | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1276+22581A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68170338 | ||||||
| chrX:68170374
|
C | T | 7 | a0001c0001t0003g0091a0001c0001t0003g0122a0001c0001t0007g0023others(4): Show | 7 | HG00099.hp2 HG01243.hp1 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.1276+22545G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68170374 | ||||||
| chrX:68170456
|
T | C | 14 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(11): Show | 14 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.1276+22463A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68170456 | ||||||
| chrX:68170483
|
G | A | 14 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(11): Show | 14 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.1276+22436C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68170483 | ||||||
| chrX:68170628
|
G | A | 2 | a0001c0001t0009g0128a0001c0001t0009g0129 | 2 | HG01243.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1276+22291C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68170628 | ||||||
| chrX:68170682
|
C | CA | 1 | a0001c0001t0015g0148 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.1276+22236dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68170682 | ||||||
| chrX:68170699
|
G | A | 1 | a0001c0001t0001g0075 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1276+22220C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68170699 | ||||||
| chrX:68170738
|
C | T | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1276+22181G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68170738 | ||||||
| chrX:68170794
|
A | AG | 5 | a0001c0001t0002g0115a0001c0001t0002g0123a0001c0001t0020g0099others(2): Show | 5 | HG00738.hp1 HG02027.hp1 HG02145.hp1 others(2): Show |
intron_variant | MODIFIER | c.1276+22124dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68170794 | ||||||
| chrX:68170822
|
A | G | 19 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(16): Show | 19 | HG00099.hp1 HG00280.hp1 HG01081.hp1 others(16): Show |
intron_variant | MODIFIER | c.1276+22097T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68170822 | ||||||
| chrX:68170861
|
A | G | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1276+22058T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68170861 | ||||||
| chrX:68170880
|
T | C | 7 | a0001c0001t0003g0091a0001c0001t0003g0122a0001c0001t0007g0023others(4): Show | 7 | HG00099.hp2 HG01243.hp1 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.1276+22039A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68170880 | ||||||
| chrX:68171290
|
TA | T | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1276+21628delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68171290 | ||||||
| chrX:68171379
|
G | GA | 1 | a0001c0001t0015g0148 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.1276+21539dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68171379 | ||||||
| chrX:68171440
|
C | T | 150 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(147): Show | 150 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(147): Show |
intron_variant | MODIFIER | c.1276+21479G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68171440 | ||||||
| chrX:68171441
|
AG | A | 49 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(46): Show | 49 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(46): Show |
intron_variant | MODIFIER | c.1276+21477delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68171441 | ||||||
| chrX:68171508
|
G | C | 19 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(16): Show | 19 | HG00099.hp1 HG00280.hp1 HG01081.hp1 others(16): Show |
intron_variant | MODIFIER | c.1276+21411C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68171508 | ||||||
| chrX:68171742
|
T | TA | 31 | a0001c0001t0002g0021a0001c0001t0002g0134a0001c0001t0003g0018others(28): Show | 31 | HG00735.hp2 HG01081.hp2 HG01099.hp1 others(28): Show |
intron_variant | MODIFIER | c.1276+21176dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68171742 | ||||||
| chrX:68171742
|
TA | T | 1 | a0001c0001t0015g0148 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.1276+21176delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68171742 | ||||||
| chrX:68171803
|
T | C | 1 | a0001c0001t0002g0014 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1276+21116A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68171803 | ||||||
| chrX:68171939
|
T | C | 2 | a0001c0001t0004g0011a0001c0001t0004g0012 | 2 | HG02280.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.1276+20980A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68171939 | ||||||
| chrX:68172020
|
A | G | 150 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(147): Show | 150 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(147): Show |
intron_variant | MODIFIER | c.1276+20899T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68172020 | ||||||
| chrX:68172037
|
C | A | 1 | a0001c0001t0002g0057 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.1276+20882G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68172037 | ||||||
| chrX:68172101
|
G | A | 5 | a0001c0001t0001g0009a0001c0001t0001g0098a0001c0001t0001g0132others(2): Show | 5 | HG01069.hp1 NA18955.hp1 NA18966.hp1 others(2): Show |
intron_variant | MODIFIER | c.1276+20818C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68172101 | ||||||
| chrX:68172611
|
T | TA | 1 | a0001c0001t0015g0148 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.1276+20307dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68172611 | ||||||
| chrX:68172823
|
G | A | 48 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(45): Show | 48 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(45): Show |
intron_variant | MODIFIER | c.1276+20096C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68172823 | ||||||
| chrX:68172827
|
T | G | 1 | a0001c0001t0003g0109 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1276+20092A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68172827 | ||||||
| chrX:68173244
|
C | T | 28 | a0001c0001t0002g0021a0001c0001t0002g0134a0001c0001t0003g0018others(25): Show | 28 | HG01081.hp2 HG01099.hp1 HG01106.hp1 others(25): Show |
intron_variant | MODIFIER | c.1276+19675G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68173244 | ||||||
| chrX:68173299
|
C | T | 49 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(46): Show | 49 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(46): Show |
intron_variant | MODIFIER | c.1276+19620G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68173299 | ||||||
| chrX:68173421
|
T | C | 1 | a0001c0001t0003g0100 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1276+19498A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68173421 | ||||||
| chrX:68173437
|
C | CG | 1 | a0001c0001t0015g0148 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.1276+19481dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68173437 | ||||||
| chrX:68173527
|
G | T | 1 | a0001c0001t0001g0090 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1276+19392C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68173527 | ||||||
| chrX:68173545
|
A | G | 2 | a0001c0001t0007g0023a0001c0001t0007g0033 | 2 | HG02559.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1276+19374T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68173545 | ||||||
| chrX:68173747
|
T | C | 1 | a0001c0001t0001g0046 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.1276+19172A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68173747 | ||||||
| chrX:68173769
|
A | C | 51 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(48): Show | 51 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(48): Show |
intron_variant | MODIFIER | c.1276+19150T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68173769 | ||||||
| chrX:68173976
|
T | TG | 8 | a0001c0001t0001g0090a0001c0001t0002g0019a0001c0001t0002g0047others(5): Show | 8 | HG00673.hp1 HG01255.hp1 HG01433.hp1 others(5): Show |
intron_variant | MODIFIER | c.1276+18942dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68173976 | ||||||
| chrX:68174371
|
T | C | 30 | a0001c0001t0002g0021a0001c0001t0002g0134a0001c0001t0003g0018others(27): Show | 30 | HG01081.hp2 HG01099.hp1 HG01106.hp1 others(27): Show |
intron_variant | MODIFIER | c.1276+18548A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68174371 | ||||||
| chrX:68174466
|
A | C | 1 | a0001c0001t0001g0008 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1276+18453T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68174466 | ||||||
| chrX:68174467
|
TTC | T | 1 | a0001c0001t0001g0008 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1276+18450_1276+18 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68174467 | ||||||
| chrX:68174469
|
C | CT | 134 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(131): Show | 134 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(131): Show |
intron_variant | MODIFIER | c.1276+18449dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68174469 | ||||||
| chrX:68174469
|
C | CTT | 5 | a0001c0001t0001g0038a0001c0001t0001g0090a0001c0001t0001g0145others(2): Show | 5 | HG01433.hp1 HG02132.hp1 HG02602.hp1 others(2): Show |
intron_variant | MODIFIER | c.1276+18448_1276+18 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68174469 | ||||||
| chrX:68174469
|
CTT | C | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1276+18448_1276+18 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68174469 | ||||||
| chrX:68174549
|
G | A | 1 | a0001c0001t0005g0107 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1276+18370C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68174549 | ||||||
| chrX:68175021
|
T | C | 1 | a0001c0001t0003g0101 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1276+17898A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68175021 | ||||||
| chrX:68175082
|
C | CA | 1 | a0001c0001t0015g0148 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.1276+17836dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68175082 | ||||||
| chrX:68175093
|
G | GA | 1 | a0001c0001t0002g0123 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1276+17825dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68175093 | ||||||
| chrX:68175101
|
A | G | 21 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(18): Show | 21 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.1276+17818T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68175101 | ||||||
| chrX:68175312
|
GA | G | 1 | a0001c0001t0015g0148 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.1276+17606delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68175312 | ||||||
| chrX:68175457
|
G | GA | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1276+17461dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68175457 | ||||||
| chrX:68175697
|
C | G | 19 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(16): Show | 19 | HG00099.hp1 HG00280.hp1 HG01081.hp1 others(16): Show |
intron_variant | MODIFIER | c.1276+17222G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68175697 | ||||||
| chrX:68175837
|
G | A | 3 | a0001c0001t0001g0009a0001c0001t0001g0140a0001c0001t0011g0061 | 3 | NA18966.hp1 NA18982.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.1276+17082C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68175837 | ||||||
| chrX:68176161
|
T | A | 21 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(18): Show | 21 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.1276+16758A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68176161 | ||||||
| chrX:68176221
|
G | A | 7 | a0001c0001t0003g0091a0001c0001t0003g0122a0001c0001t0007g0023others(4): Show | 7 | HG00099.hp2 HG01243.hp1 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.1276+16698C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68176221 | ||||||
| chrX:68176349
|
C | A | 1 | a0001c0001t0001g0015 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.1276+16570G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68176349 | ||||||
| chrX:68176398
|
G | T | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1276+16521C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68176398 | ||||||
| chrX:68176580
|
T | C | 49 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(46): Show | 49 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(46): Show |
intron_variant | MODIFIER | c.1276+16339A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68176580 | ||||||
| chrX:68176598
|
G | A | 1 | a0001c0001t0001g0146 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1276+16321C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68176598 | ||||||
| chrX:68176683
|
G | A | 29 | a0001c0001t0002g0021a0001c0001t0003g0018a0001c0001t0003g0020others(26): Show | 29 | HG00735.hp2 HG01081.hp2 HG01099.hp1 others(26): Show |
intron_variant | MODIFIER | c.1276+16236C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68176683 | ||||||
| chrX:68176964
|
T | C | 1 | a0001c0001t0005g0152 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1276+15955A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68176964 | ||||||
| chrX:68176973
|
C | CAT | 9 | a0001c0001t0001g0077a0001c0001t0003g0091a0001c0001t0003g0111others(6): Show | 9 | HG00099.hp2 HG01243.hp1 HG02071.hp1 others(6): Show |
intron_variant | MODIFIER | c.1276+15944_1276+15 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68176973 | ||||||
| chrX:68176973
|
C | CATAT | 13 | a0001c0001t0002g0021a0001c0001t0002g0134a0001c0001t0003g0018others(10): Show | 13 | HG02257.hp2 HG02258.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.1276+15942_1276+15 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68176973 | ||||||
| chrX:68176973
|
C | CATATAT | 9 | a0001c0001t0003g0122a0001c0001t0004g0005a0001c0001t0004g0010others(6): Show | 9 | HG00735.hp2 HG01081.hp2 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.1276+15940_1276+15 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68176973 | ||||||
| chrX:68176973
|
C | CATATATA others(1): Show |
7 | a0001c0001t0003g0063a0001c0001t0003g0100a0001c0001t0004g0004others(4): Show | 7 | HG01106.hp1 HG01358.hp1 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.1276+15938_1276+15 others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68176973 | ||||||
| chrX:68176973
|
C | CATATATA others(3): Show |
3 | a0001c0001t0003g0035a0001c0001t0003g0076a0001c0001t0013g0042 | 3 | HG01099.hp1 HG01192.hp1 HG01346.hp2 |
intron_variant | MODIFIER | c.1276+15936_1276+15 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68176973 | ||||||
| chrX:68176973
|
CAT | C | 24 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(21): Show | 24 | HG00099.hp1 HG00280.hp1 HG00738.hp1 others(21): Show |
intron_variant | MODIFIER | c.1276+15944_1276+15 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68176973 | ||||||
| chrX:68177192
|
A | G | 7 | a0001c0001t0003g0091a0001c0001t0003g0122a0001c0001t0007g0023others(4): Show | 7 | HG00099.hp2 HG01243.hp1 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.1276+15727T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68177192 | ||||||
| chrX:68177383
|
TA | T | 30 | a0001c0001t0002g0021a0001c0001t0002g0134a0001c0001t0003g0018others(27): Show | 30 | HG00735.hp2 HG01081.hp2 HG01099.hp1 others(27): Show |
intron_variant | MODIFIER | c.1276+15535delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68177383 | ||||||
| chrX:68177443
|
T | G | 3 | a0001c0001t0003g0091a0001c0001t0003g0122a0001c0001t0008g0112 | 3 | HG00099.hp2 HG02818.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1276+15476A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68177443 | ||||||
| chrX:68177500
|
TTA | T | 1 | a0001c0001t0001g0062 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1276+15417_1276+15 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68177500 | ||||||
| chrX:68177537
|
T | TA | 1 | a0001c0001t0002g0133 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1276+15381dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68177537 | ||||||
| chrX:68177537
|
TA | T | 56 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(53): Show | 56 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(53): Show |
intron_variant | MODIFIER | c.1276+15381delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68177537 | ||||||
| chrX:68177570
|
T | C | 51 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(48): Show | 51 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(48): Show |
intron_variant | MODIFIER | c.1276+15349A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68177570 | ||||||
| chrX:68177607
|
C | T | 1 | a0001c0001t0003g0101 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1276+15312G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68177607 | ||||||
| chrX:68177691
|
AAG | A | 1 | a0001c0001t0005g0138 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1276+15226_1276+15 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68177691 | ||||||
| chrX:68177797
|
G | A | 19 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(16): Show | 19 | HG00099.hp1 HG00280.hp1 HG01081.hp1 others(16): Show |
intron_variant | MODIFIER | c.1276+15122C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68177797 | ||||||
| chrX:68177837
|
C | T | 19 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(16): Show | 19 | HG00099.hp1 HG00280.hp1 HG01081.hp1 others(16): Show |
intron_variant | MODIFIER | c.1276+15082G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68177837 | ||||||
| chrX:68177861
|
G | A | 1 | a0001c0001t0003g0109 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1276+15058C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68177861 | ||||||
| chrX:68178060
|
C | T | 14 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(11): Show | 14 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.1276+14859G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68178060 | ||||||
| chrX:68178119
|
T | C | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1276+14800A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68178119 | ||||||
| chrX:68178462
|
G | A | 1 | a0001c0003t0010g0089 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1276+14457C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68178462 | ||||||
| chrX:68178515
|
T | G | 24 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(21): Show | 24 | HG00099.hp2 HG01243.hp1 HG01255.hp1 others(21): Show |
intron_variant | MODIFIER | c.1276+14404A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68178515 | ||||||
| chrX:68179167
|
T | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1276+13752A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68179167 | ||||||
| chrX:68179207
|
C | T | 1 | a0001c0001t0005g0152 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1276+13712G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68179207 | ||||||
| chrX:68179209
|
CCTT | C | 76 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(73): Show | 76 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(73): Show |
intron_variant | MODIFIER | c.1276+13707_1276+13 others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68179209 | ||||||
| chrX:68179695
|
T | G | 31 | a0001c0001t0002g0021a0001c0001t0002g0134a0001c0001t0003g0018others(28): Show | 31 | HG00735.hp2 HG01081.hp2 HG01099.hp1 others(28): Show |
intron_variant | MODIFIER | c.1276+13224A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68179695 | ||||||
| chrX:68179800
|
C | T | 2 | a0001c0001t0009g0128a0001c0001t0009g0129 | 2 | HG01243.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1276+13119G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68179800 | ||||||
| chrX:68180278
|
T | C | 52 | a0001c0001t0001g0049a0001c0001t0001g0059a0001c0001t0001g0074others(49): Show | 52 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(49): Show |
intron_variant | MODIFIER | c.1276+12641A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68180278 | ||||||
| chrX:68180316
|
C | T | 7 | a0001c0001t0003g0091a0001c0001t0003g0122a0001c0001t0007g0023others(4): Show | 7 | HG00099.hp2 HG01243.hp1 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.1276+12603G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68180316 | ||||||
| chrX:68180345
|
AT | A | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1276+12573delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68180345 | ||||||
| chrX:68180383
|
G | A | 19 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(16): Show | 19 | HG00099.hp1 HG00280.hp1 HG01081.hp1 others(16): Show |
intron_variant | MODIFIER | c.1276+12536C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68180383 | ||||||
| chrX:68180407
|
G | A | 3 | a0001c0001t0001g0041a0001c0001t0001g0092a0001c0001t0024g0007 | 3 | NA18960.hp1 NA19000.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.1276+12512C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68180407 | ||||||
| chrX:68180407
|
G | T | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1276+12512C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68180407 | ||||||
| chrX:68180958
|
AT | A | 19 | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0153others(16): Show | 19 | HG00099.hp1 HG00280.hp1 HG01081.hp1 others(16): Show |
intron_variant | MODIFIER | c.1276+11960delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68180958 | ||||||
| chrX:68181815
|
A | G | 49 | a0001c0001t0001g0049a0001c0001t0001g0059a0001c0001t0001g0074others(46): Show | 49 | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(46): Show |
intron_variant | MODIFIER | c.1276+11104T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68181815 | ||||||
| chrX:68182102
|
C | A | 1 | a0001c0001t0002g0047 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1276+10817G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68182102 | ||||||
| chrX:68182188
|
G | GT | 70 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(67): Show | 70 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(67): Show |
intron_variant | MODIFIER | c.1276+10730dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68182188 | ||||||
| chrX:68182188
|
G | GTT | 40 | a0001c0001t0001g0015a0001c0001t0001g0029a0001c0001t0001g0049others(37): Show | 40 | HG00099.hp1 HG00735.hp2 HG01081.hp1 others(37): Show |
intron_variant | MODIFIER | c.1276+10729_1276+10 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68182188 | ||||||
| chrX:68182188
|
G | GTTT | 13 | a0001c0001t0001g0074a0001c0001t0003g0035a0001c0001t0003g0063others(10): Show | 13 | HG01081.hp2 HG01099.hp1 HG01106.hp1 others(10): Show |
intron_variant | MODIFIER | c.1276+10728_1276+10 others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68182188 | ||||||
| chrX:68182188
|
G | GTTTT | 7 | a0001c0001t0002g0134a0001c0001t0003g0076a0001c0001t0004g0004others(4): Show | 7 | HG00738.hp1 HG01192.hp1 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.1276+10727_1276+10 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68182188 | ||||||
| chrX:68182188
|
GT | G | 12 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(9): Show | 12 | HG01255.hp1 HG02109.hp2 HG02630.hp2 others(9): Show |
intron_variant | MODIFIER | c.1276+10730delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68182188 | ||||||
| chrX:68182188
|
GTTTTTTT | G | 1 | a0001c0001t0004g0034 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1276+10724_1276+10 others(13): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68182188 | ||||||
| chrX:68182220
|
G | A | 1 | a0001c0001t0003g0109 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1276+10699C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68182220 | ||||||
| chrX:68182518
|
A | C | 17 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(14): Show | 17 | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.1276+10401T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68182518 | ||||||
| chrX:68182772
|
C | A | 4 | a0001c0001t0003g0076a0001c0001t0013g0042a0002c0002t0001g0002others(1): Show | 4 | HG01192.hp1 HG01346.hp2 HG01358.hp1 others(1): Show |
intron_variant | MODIFIER | c.1276+10147G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68182772 | ||||||
| chrX:68183274
|
G | A | 9 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(6): Show | 9 | HG02109.hp2 HG02145.hp1 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.1276+9645C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68183274 | ||||||
| chrX:68183320
|
T | C | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1276+9599A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68183320 | ||||||
| chrX:68183644
|
C | T | 3 | a0001c0001t0003g0091a0001c0001t0003g0122a0001c0001t0008g0112 | 3 | HG00099.hp2 HG02818.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1276+9275G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68183644 | ||||||
| chrX:68183678
|
T | TA | 34 | a0001c0001t0002g0021a0001c0001t0002g0134a0001c0001t0003g0018others(31): Show | 34 | HG00735.hp2 HG00738.hp1 HG01081.hp2 others(31): Show |
intron_variant | MODIFIER | c.1276+9240dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68183678 | ||||||
| chrX:68183809
|
C | T | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1276+9110G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68183809 | ||||||
| chrX:68183823
|
T | C | 1 | a0001c0001t0001g0028 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1276+9096A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68183823 | ||||||
| chrX:68183827
|
G | A | 1 | a0001c0001t0001g0145 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.1276+9092C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68183827 | ||||||
| chrX:68183881
|
T | G | 26 | a0001c0001t0001g0049a0001c0001t0001g0059a0001c0001t0001g0074others(23): Show | 26 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(23): Show |
intron_variant | MODIFIER | c.1276+9038A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68183881 | ||||||
| chrX:68184109
|
T | C | 1 | a0001c0001t0015g0148 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.1276+8810A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68184109 | ||||||
| chrX:68184197
|
G | A | 31 | a0001c0001t0002g0021a0001c0001t0003g0018a0001c0001t0003g0020others(28): Show | 31 | HG00735.hp2 HG00738.hp1 HG01081.hp2 others(28): Show |
intron_variant | MODIFIER | c.1276+8722C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68184197 | ||||||
| chrX:68184287
|
C | T | 11 | a0001c0001t0002g0021a0001c0001t0003g0018a0001c0001t0003g0020others(8): Show | 11 | HG02257.hp2 HG02258.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.1276+8632G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68184287 | ||||||
| chrX:68184357
|
A | G | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1276+8562T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68184357 | ||||||
| chrX:68184375
|
A | G | 1 | a0001c0001t0001g0141 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1276+8544T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68184375 | ||||||
| chrX:68184436
|
C | T | 26 | a0001c0001t0002g0021a0001c0001t0003g0018a0001c0001t0003g0020others(23): Show | 26 | HG01081.hp2 HG01099.hp1 HG01106.hp1 others(23): Show |
intron_variant | MODIFIER | c.1276+8483G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68184436 | ||||||
| chrX:68184479
|
G | A | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1276+8440C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68184479 | ||||||
| chrX:68184526
|
G | GA | 1 | a0001c0001t0003g0113 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1276+8392dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68184526 | ||||||
| chrX:68184526
|
GA | G | 2 | a0001c0001t0008g0096a0001c0001t0020g0099 | 2 | HG00738.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.1276+8392delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68184526 | ||||||
| chrX:68184642
|
G | C | 5 | a0001c0001t0004g0004a0001c0001t0004g0026a0001c0001t0004g0030others(2): Show | 5 | HG01081.hp2 HG02055.hp1 HG02109.hp1 others(2): Show |
intron_variant | MODIFIER | c.1276+8277C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68184642 | ||||||
| chrX:68184848
|
G | A | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1276+8071C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68184848 | ||||||
| chrX:68185016
|
C | A | 1 | a0001c0001t0001g0044 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1276+7903G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68185016 | ||||||
| chrX:68185425
|
A | C | 6 | a0001c0001t0004g0004a0001c0001t0004g0026a0001c0001t0004g0030others(3): Show | 6 | HG01081.hp2 HG02055.hp1 HG02109.hp1 others(3): Show |
intron_variant | MODIFIER | c.1276+7494T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68185425 | ||||||
| chrX:68185590
|
A | G | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1276+7329T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68185590 | ||||||
| chrX:68185607
|
C | T | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1276+7312G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68185607 | ||||||
| chrX:68185608
|
G | A | 26 | a0001c0001t0002g0021a0001c0001t0002g0133a0001c0001t0002g0134others(23): Show | 26 | HG00099.hp2 HG01099.hp1 HG01106.hp1 others(23): Show |
intron_variant | MODIFIER | c.1276+7311C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68185608 | ||||||
| chrX:68185844
|
T | C | 1 | a0001c0001t0003g0035 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1276+7075A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68185844 | ||||||
| chrX:68185978
|
T | G | 9 | a0001c0001t0004g0004a0001c0001t0004g0026a0001c0001t0004g0030others(6): Show | 9 | HG01081.hp2 HG01243.hp1 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.1276+6941A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68185978 | ||||||
| chrX:68186084
|
A | G | 153 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(150): Show | 153 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(150): Show |
intron_variant | MODIFIER | c.1276+6835T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68186084 | ||||||
| chrX:68186255
|
A | T | 4 | a0001c0001t0002g0134a0001c0001t0006g0013a0001c0001t0006g0105others(1): Show | 4 | HG02559.hp2 HG02630.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.1276+6664T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68186255 | ||||||
| chrX:68186475
|
T | TA | 2 | a0001c0001t0003g0076a0001c0001t0008g0096 | 2 | HG01192.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.1276+6443dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68186475 | ||||||
| chrX:68186475
|
TA | T | 1 | a0001c0001t0001g0149 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1276+6443delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68186475 | ||||||
| chrX:68186980
|
C | T | 2 | a0001c0001t0001g0045a0001c0001t0001g0078 | 2 | NA19085.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.1276+5939G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68186980 | ||||||
| chrX:68187507
|
C | CA | 4 | a0001c0001t0001g0041a0001c0001t0001g0092a0001c0001t0003g0065others(1): Show | 4 | HG02615.hp2 NA18960.hp1 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1276+5411dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68187507 | ||||||
| chrX:68187507
|
CA | C | 1 | a0001c0001t0006g0120 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.1276+5411delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68187507 | ||||||
| chrX:68187600
|
A | C | 33 | a0001c0001t0001g0071a0001c0001t0001g0077a0001c0001t0001g0140others(30): Show | 33 | HG00099.hp2 HG00280.hp1 HG00642.hp1 others(30): Show |
intron_variant | MODIFIER | c.1276+5319T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68187600 | ||||||
| chrX:68187654
|
G | C | 1 | a0001c0001t0001g0052 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1276+5265C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68187654 | ||||||
| chrX:68187726
|
T | C | 152 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(149): Show | 152 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(149): Show |
intron_variant | MODIFIER | c.1276+5193A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68187726 | ||||||
| chrX:68187772
|
T | C | 33 | a0001c0001t0001g0071a0001c0001t0001g0077a0001c0001t0001g0140others(30): Show | 33 | HG00099.hp2 HG00280.hp1 HG00642.hp1 others(30): Show |
intron_variant | MODIFIER | c.1276+5147A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68187772 | ||||||
| chrX:68187776
|
C | T | 29 | a0001c0001t0001g0071a0001c0001t0001g0077a0001c0001t0001g0140others(26): Show | 29 | HG00099.hp2 HG00280.hp1 HG00642.hp1 others(26): Show |
intron_variant | MODIFIER | c.1276+5143G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68187776 | ||||||
| chrX:68187829
|
A | G | 1 | a0001c0001t0001g0145 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.1276+5090T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68187829 | ||||||
| chrX:68187834
|
A | G | 1 | a0001c0001t0001g0146 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1276+5085T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68187834 | ||||||
| chrX:68187844
|
G | A | 2 | a0001c0001t0002g0116a0001c0001t0008g0112 | 2 | HG02818.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1276+5075C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68187844 | ||||||
| chrX:68187849
|
G | C | 4 | a0001c0001t0001g0027a0001c0001t0001g0041a0001c0001t0001g0092others(1): Show | 4 | NA18960.hp1 NA18994.hp1 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1276+5070C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68187849 | ||||||
| chrX:68187877
|
T | G | 1 | a0001c0001t0003g0091 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1276+5042A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68187877 | ||||||
| chrX:68188042
|
C | G | 2 | a0001c0001t0005g0152a0001c0001t0019g0003 | 2 | HG02630.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1276+4877G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68188042 | ||||||
| chrX:68188664
|
C | T | 83 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(80): Show | 83 | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(80): Show |
intron_variant | MODIFIER | c.1276+4255G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68188664 | ||||||
| chrX:68188763
|
A | C | 1 | a0001c0001t0016g0119 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1276+4156T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68188763 | ||||||
| chrX:68188871
|
T | C | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1276+4048A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68188871 | ||||||
| chrX:68189004
|
A | G | 1 | a0001c0001t0005g0152 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1276+3915T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68189004 | ||||||
| chrX:68189105
|
A | C | 3 | a0001c0001t0003g0018a0001c0001t0003g0020a0001c0001t0030g0155 | 3 | HG02280.hp1 HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.1276+3814T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68189105 | ||||||
| chrX:68189255
|
T | A | 1 | a0001c0001t0002g0125 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1276+3664A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68189255 | ||||||
| chrX:68189260
|
A | G | 11 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(8): Show | 11 | HG01891.hp2 HG02109.hp2 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.1276+3659T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68189260 | ||||||
| chrX:68189267
|
C | T | 44 | a0001c0001t0001g0038a0001c0001t0001g0071a0001c0001t0001g0077others(41): Show | 44 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(41): Show |
intron_variant | MODIFIER | c.1276+3652G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68189267 | ||||||
| chrX:68189279
|
G | A | 45 | a0001c0001t0001g0038a0001c0001t0001g0071a0001c0001t0001g0077others(42): Show | 45 | HG00099.hp2 HG00280.hp1 HG00642.hp1 others(42): Show |
intron_variant | MODIFIER | c.1276+3640C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68189279 | ||||||
| chrX:68189340
|
T | C | 1 | a0001c0001t0003g0113 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1276+3579A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68189340 | ||||||
| chrX:68189351
|
CT | C | 1 | a0001c0001t0009g0128 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1276+3567delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68189351 | ||||||
| chrX:68189438
|
C | G | 1 | a0001c0001t0001g0078 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1276+3481G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68189438 | ||||||
| chrX:68189636
|
C | T | 1 | a0001c0001t0003g0113 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1276+3283G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68189636 | ||||||
| chrX:68189857
|
G | A | 1 | a0001c0001t0003g0091 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1276+3062C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68189857 | ||||||
| chrX:68189923
|
T | C | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1276+2996A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68189923 | ||||||
| chrX:68189927
|
T | TA | 1 | a0001c0001t0005g0152 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1276+2991dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68189927 | ||||||
| chrX:68189981
|
G | GA | 2 | a0001c0001t0004g0117a0001c0001t0005g0107 | 2 | HG01891.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.1276+2937dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68189981 | ||||||
| chrX:68189983
|
A | G | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1276+2936T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68189983 | ||||||
| chrX:68190155
|
C | T | 23 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(20): Show | 23 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(20): Show |
intron_variant | MODIFIER | c.1276+2764G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68190155 | ||||||
| chrX:68190320
|
T | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1276+2599A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68190320 | ||||||
| chrX:68190418
|
G | T | 14 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(11): Show | 14 | HG01891.hp1 HG01891.hp2 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.1276+2501C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68190418 | ||||||
| chrX:68190499
|
T | C | 1 | a0001c0001t0001g0140 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.1276+2420A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68190499 | ||||||
| chrX:68190515
|
C | T | 3 | a0001c0001t0008g0096a0001c0001t0009g0128a0001c0001t0009g0129 | 3 | HG01243.hp1 HG02257.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1276+2404G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68190515 | ||||||
| chrX:68190974
|
T | C | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1276+1945A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68190974 | ||||||
| chrX:68191505
|
G | T | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1276+1414C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68191505 | ||||||
| chrX:68191534
|
G | A | 1 | a0001c0001t0003g0113 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1276+1385C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68191534 | ||||||
| chrX:68192061
|
TA | T | 26 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(23): Show | 26 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.1276+857delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68192061 | ||||||
| chrX:68192093
|
A | T | 1 | a0001c0001t0005g0137 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1276+826T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68192093 | ||||||
| chrX:68192165
|
A | G | 2 | a0001c0001t0001g0075a0001c0001t0002g0057 | 2 | NA18977.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.1276+754T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68192165 | ||||||
| chrX:68192241
|
G | A | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1276+678C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68192241 | ||||||
| chrX:68192316
|
T | C | 26 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(23): Show | 26 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.1276+603A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68192316 | ||||||
| chrX:68192333
|
T | C | 16 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(13): Show | 16 | HG00738.hp1 HG01891.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.1276+586A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68192333 | ||||||
| chrX:68192472
|
C | CA | 107 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(104): Show | 107 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(104): Show |
intron_variant | MODIFIER | c.1276+446dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68192472 | ||||||
| chrX:68192472
|
C | CAA | 16 | a0001c0001t0001g0038a0001c0001t0002g0115a0001c0001t0002g0116others(13): Show | 16 | HG01243.hp1 HG02109.hp1 HG02145.hp1 others(13): Show |
intron_variant | MODIFIER | c.1276+445_1276+446d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68192472 | ||||||
| chrX:68192472
|
CA | C | 26 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(23): Show | 26 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.1276+446delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68192472 | ||||||
| chrX:68192475
|
A | G | 1 | a0001c0001t0005g0107 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1276+444T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68192475 | ||||||
| chrX:68192503
|
C | G | 1 | a0001c0001t0009g0129 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1276+416G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68192503 | ||||||
| chrX:68192557
|
CA | C | 1 | a0001c0001t0001g0016 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.1276+361delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68192557 | ||||||
| chrX:68192571
|
T | C | 26 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(23): Show | 26 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.1276+348A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68192571 | ||||||
| chrX:68192595
|
A | G | 9 | a0001c0001t0001g0038a0001c0001t0002g0115a0001c0001t0002g0116others(6): Show | 9 | HG02145.hp1 HG02280.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.1276+324T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68192595 | ||||||
| chrX:68192770
|
G | A | 26 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(23): Show | 26 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.1276+149C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 15/24 | chrX | 68192770 | ||||||
| chrX:68193064
|
G | A | 153 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(150): Show | 153 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(150): Show |
intron_variant | MODIFIER | c.1202-71C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 14/24 | chrX | 68193064 | ||||||
| chrX:68193087
|
C | T | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1202-94G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 14/24 | chrX | 68193087 | ||||||
| chrX:68193347
|
A | C | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1202-354T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 14/24 | chrX | 68193347 | ||||||
| chrX:68193354
|
T | C | 2 | a0001c0001t0002g0125a0001c0001t0002g0127 | 2 | HG01255.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1202-361A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 14/24 | chrX | 68193354 | ||||||
| chrX:68194265
|
C | T | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1138+200G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 13/24 | chrX | 68194265 | ||||||
| chrX:68194285
|
T | C | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp1 HG01891.hp2 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.1138+180A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 13/24 | chrX | 68194285 | ||||||
| chrX:68194385
|
A | G | 28 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(25): Show | 28 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(25): Show |
intron_variant | MODIFIER | c.1138+80T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 13/24 | chrX | 68194385 | ||||||
| chrX:68194444
|
C | T | 2 | a0001c0001t0005g0152a0001c0001t0019g0003 | 2 | HG02630.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1138+21G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 13/24 | chrX | 68194444 | ||||||
| chrX:68194563
|
A | G | 8 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(5): Show | 8 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(5): Show |
intron_variant | MODIFIER | c.1105-65T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68194563 | ||||||
| chrX:68194805
|
C | T | 3 | a0001c0001t0003g0151a0001c0001t0004g0094a0001c0001t0004g0095 | 3 | HG03209.hp1 HG03516.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.1105-307G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68194805 | ||||||
| chrX:68194924
|
C | T | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1105-426G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68194924 | ||||||
| chrX:68194984
|
G | GAAAGA | 2 | a0001c0001t0002g0125a0001c0001t0005g0152 | 2 | HG01255.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.1105-491_1105-487d others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68194984 | ||||||
| chrX:68194989
|
AG | A | 6 | a0001c0001t0002g0127a0001c0001t0004g0026a0001c0001t0004g0030others(3): Show | 6 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.1105-492delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68194989 | ||||||
| chrX:68194989
|
AGAGAG | A | 5 | a0001c0001t0004g0034a0001c0001t0005g0110a0001c0001t0020g0099others(2): Show | 5 | HG00738.hp1 HG02055.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.1105-496_1105-492d others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68194989 | ||||||
| chrX:68194990
|
G | A | 2 | a0001c0001t0002g0125a0001c0001t0005g0152 | 2 | HG01255.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.1105-492C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68194990 | ||||||
| chrX:68194992
|
G | A | 6 | a0001c0001t0002g0127a0001c0001t0004g0026a0001c0001t0004g0030others(3): Show | 6 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.1105-494C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68194992 | ||||||
| chrX:68194994
|
G | A | 2 | a0001c0001t0002g0125a0001c0001t0005g0152 | 2 | HG01255.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.1105-496C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68194994 | ||||||
| chrX:68194996
|
G | A | 11 | a0001c0001t0002g0127a0001c0001t0004g0026a0001c0001t0004g0030others(8): Show | 11 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(8): Show |
intron_variant | MODIFIER | c.1105-498C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68194996 | ||||||
| chrX:68195000
|
A | G | 2 | a0001c0001t0002g0125a0001c0001t0005g0152 | 2 | HG01255.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.1105-502T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195000 | ||||||
| chrX:68195003
|
A | AAAGG | 36 | a0001c0001t0001g0016a0001c0001t0001g0025a0001c0001t0001g0029others(33): Show | 36 | HG00621.hp1 HG01069.hp1 HG01169.hp2 others(33): Show |
intron_variant | MODIFIER | c.1105-509_1105-506d others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195003 | ||||||
| chrX:68195003
|
A | AAAGGAAG others(1): Show |
22 | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0001g0041others(19): Show | 22 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(19): Show |
intron_variant | MODIFIER | c.1105-513_1105-506d others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195003 | ||||||
| chrX:68195003
|
A | AAAGGAAG others(5): Show |
5 | a0001c0001t0001g0039a0001c0001t0001g0048a0001c0001t0002g0135others(2): Show | 5 | HG02572.hp1 HG02698.hp1 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.1105-517_1105-506d others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195003 | ||||||
| chrX:68195003
|
A | AAAGGAAG others(9): Show |
3 | a0001c0001t0002g0108a0001c0001t0002g0133a0001c0001t0027g0072 | 3 | HG00099.hp1 HG01891.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1105-521_1105-506d others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195003 | ||||||
| chrX:68195003
|
A | AAAGGAAG others(13): Show |
2 | a0001c0001t0002g0014a0001c0001t0002g0114 | 2 | HG02922.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1105-525_1105-506d others(22): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195003 | ||||||
| chrX:68195003
|
AAAGG | A | 11 | a0001c0001t0001g0009a0001c0001t0001g0045a0001c0001t0001g0078others(8): Show | 11 | HG02027.hp1 HG02280.hp2 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.1105-509_1105-506d others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195003 | ||||||
| chrX:68195003
|
AAAGGAAG others(1): Show |
A | 3 | a0001c0001t0001g0140a0001c0001t0004g0005a0001c0001t0005g0137 | 3 | HG00735.hp2 HG02818.hp1 NA18966.hp1 |
intron_variant | MODIFIER | c.1105-513_1105-506d others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195003 | ||||||
| chrX:68195003
|
AAAGGAAG others(5): Show |
A | 20 | a0001c0001t0001g0008a0001c0001t0001g0143a0001c0001t0001g0146others(17): Show | 20 | HG00099.hp2 HG01081.hp1 HG01346.hp1 others(17): Show |
intron_variant | MODIFIER | c.1105-517_1105-506d others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195003 | ||||||
| chrX:68195003
|
AAAGGAAG others(9): Show |
A | 7 | a0001c0001t0001g0071a0001c0001t0001g0077a0001c0001t0003g0018others(4): Show | 7 | HG00642.hp1 HG02071.hp1 HG02280.hp1 others(4): Show |
intron_variant | MODIFIER | c.1105-521_1105-506d others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195003 | ||||||
| chrX:68195003
|
AAAGGAAG others(13): Show |
A | 2 | a0001c0001t0002g0124a0001c0001t0002g0144 | 2 | HG02132.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.1105-525_1105-506d others(22): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195003 | ||||||
| chrX:68195004
|
A | G | 8 | a0001c0001t0002g0125a0001c0001t0002g0127a0001c0001t0004g0026others(5): Show | 8 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(5): Show |
intron_variant | MODIFIER | c.1105-506T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195004 | ||||||
| chrX:68195006
|
G | GA | 2 | a0001c0001t0002g0127a0001c0001t0019g0003 | 2 | HG02809.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.1105-509_1105-508i others(3): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195006 | ||||||
| chrX:68195006
|
GGA | G | 9 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(6): Show | 9 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(6): Show |
intron_variant | MODIFIER | c.1105-510_1105-509d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195006 | ||||||
| chrX:68195007
|
G | A | 2 | a0001c0001t0002g0125a0001c0001t0005g0152 | 2 | HG01255.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.1105-509C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195007 | ||||||
| chrX:68195008
|
A | AG | 2 | a0001c0001t0002g0127a0001c0001t0019g0003 | 2 | HG02809.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.1105-511_1105-510i others(3): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195008 | ||||||
| chrX:68195011
|
G | A | 11 | a0001c0001t0002g0127a0001c0001t0004g0026a0001c0001t0004g0030others(8): Show | 11 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(8): Show |
intron_variant | MODIFIER | c.1105-513C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195011 | ||||||
| chrX:68195012
|
A | G | 9 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(6): Show | 9 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(6): Show |
intron_variant | MODIFIER | c.1105-514T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195012 | ||||||
| chrX:68195015
|
G | A | 9 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(6): Show | 9 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(6): Show |
intron_variant | MODIFIER | c.1105-517C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195015 | ||||||
| chrX:68195016
|
A | G | 5 | a0001c0001t0004g0034a0001c0001t0005g0110a0001c0001t0020g0099others(2): Show | 5 | HG00738.hp1 HG02055.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.1105-518T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195016 | ||||||
| chrX:68195019
|
G | A | 5 | a0001c0001t0004g0034a0001c0001t0005g0110a0001c0001t0020g0099others(2): Show | 5 | HG00738.hp1 HG02055.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.1105-521C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195019 | ||||||
| chrX:68195051
|
GAAGGAAG others(9): Show |
G | 1 | a0001c0001t0006g0106 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1105-569_1105-554d others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195051 | ||||||
| chrX:68195055
|
GAAGGAAG others(5): Show |
G | 1 | a0001c0001t0006g0105 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1105-569_1105-558d others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195055 | ||||||
| chrX:68195063
|
G | A | 4 | a0001c0001t0002g0115a0001c0001t0007g0023a0001c0001t0007g0033others(1): Show | 4 | HG02145.hp1 HG02559.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.1105-565C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195063 | ||||||
| chrX:68195063
|
G | GAAGA | 1 | a0001c0001t0002g0116 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1105-569_1105-566d others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195063 | ||||||
| chrX:68195063
|
G | GAAGGAAG others(1): Show |
1 | a0001c0001t0001g0038 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1105-566_1105-565i others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195063 | ||||||
| chrX:68195063
|
GAAGAAAG others(1): Show |
G | 3 | a0001c0001t0004g0030a0001c0001t0005g0110a0001c0001t0030g0155 | 3 | HG01081.hp2 HG02895.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1105-573_1105-566d others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195063 | ||||||
| chrX:68195067
|
A | G | 10 | a0001c0001t0002g0125a0001c0001t0002g0127a0001c0001t0004g0026others(7): Show | 10 | HG00738.hp1 HG01167.hp1 HG01169.hp1 others(7): Show |
intron_variant | MODIFIER | c.1105-569T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195067 | ||||||
| chrX:68195071
|
A | G | 10 | a0001c0001t0002g0125a0001c0001t0002g0127a0001c0001t0004g0026others(7): Show | 10 | HG00738.hp1 HG01167.hp1 HG01169.hp1 others(7): Show |
intron_variant | MODIFIER | c.1105-573T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195071 | ||||||
| chrX:68195337
|
T | C | 26 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(23): Show | 26 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.1105-839A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195337 | ||||||
| chrX:68195368
|
T | C | 26 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(23): Show | 26 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.1105-870A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195368 | ||||||
| chrX:68195391
|
C | G | 3 | a0001c0001t0008g0096a0001c0001t0009g0128a0001c0001t0009g0129 | 3 | HG01243.hp1 HG02257.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1105-893G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195391 | ||||||
| chrX:68195558
|
C | G | 4 | a0001c0001t0001g0016a0001c0001t0001g0059a0001c0001t0001g0074others(1): Show | 4 | HG01069.hp1 HG01256.hp1 HG01258.hp1 others(1): Show |
intron_variant | MODIFIER | c.1105-1060G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195558 | ||||||
| chrX:68195654
|
T | G | 2 | a0001c0001t0007g0023a0001c0001t0007g0033 | 2 | HG02559.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1105-1156A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195654 | ||||||
| chrX:68195806
|
T | C | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp1 HG01891.hp2 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.1105-1308A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195806 | ||||||
| chrX:68195851
|
G | C | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1104+1335C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195851 | ||||||
| chrX:68195935
|
G | A | 1 | a0001c0001t0003g0091 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1104+1251C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68195935 | ||||||
| chrX:68196018
|
GAA | G | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.1104+1166_1104+116 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68196018 | ||||||
| chrX:68196542
|
C | T | 26 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(23): Show | 26 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.1104+644G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68196542 | ||||||
| chrX:68196635
|
C | T | 1 | a0001c0001t0002g0083 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.1104+551G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68196635 | ||||||
| chrX:68196710
|
T | C | 26 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(23): Show | 26 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.1104+476A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68196710 | ||||||
| chrX:68197042
|
G | T | 1 | a0001c0001t0002g0124 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.1104+144C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 12/24 | chrX | 68197042 | ||||||
| chrX:68197316
|
TG | T | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1026-53delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68197316 | ||||||
| chrX:68197390
|
T | C | 2 | a0001c0001t0002g0125a0001c0001t0002g0127 | 2 | HG01255.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1026-126A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68197390 | ||||||
| chrX:68197436
|
C | G | 15 | a0001c0001t0002g0125a0001c0001t0002g0127a0001c0001t0004g0026others(12): Show | 15 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(12): Show |
intron_variant | MODIFIER | c.1026-172G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68197436 | ||||||
| chrX:68197465
|
C | T | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1026-201G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68197465 | ||||||
| chrX:68197740
|
A | T | 29 | a0001c0001t0001g0071a0001c0001t0001g0077a0001c0001t0001g0140others(26): Show | 29 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(26): Show |
intron_variant | MODIFIER | c.1026-476T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68197740 | ||||||
| chrX:68197988
|
G | A | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1026-724C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68197988 | ||||||
| chrX:68198118
|
GAATATTC others(4): Show |
G | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1026-865_1026-855d others(13): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68198118 | ||||||
| chrX:68198128
|
C | T | 3 | a0001c0001t0008g0096a0001c0001t0009g0128a0001c0001t0009g0129 | 3 | HG01243.hp1 HG02257.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1026-864G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68198128 | ||||||
| chrX:68198252
|
G | GA | 2 | a0001c0001t0002g0125a0001c0001t0002g0127 | 2 | HG01255.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1026-989dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68198252 | ||||||
| chrX:68198546
|
G | C | 2 | a0001c0001t0002g0125a0001c0001t0002g0127 | 2 | HG01255.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1026-1282C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68198546 | ||||||
| chrX:68198664
|
G | A | 1 | a0001c0001t0005g0110 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1026-1400C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68198664 | ||||||
| chrX:68198755
|
A | G | 26 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(23): Show | 26 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.1026-1491T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68198755 | ||||||
| chrX:68198788
|
G | C | 26 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(23): Show | 26 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.1026-1524C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68198788 | ||||||
| chrX:68198938
|
C | T | 2 | a0001c0001t0002g0125a0001c0001t0002g0127 | 2 | HG01255.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1026-1674G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68198938 | ||||||
| chrX:68198975
|
T | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1026-1711A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68198975 | ||||||
| chrX:68199013
|
C | T | 1 | a0001c0001t0029g0031 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.1026-1749G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68199013 | ||||||
| chrX:68199020
|
A | G | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1026-1756T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68199020 | ||||||
| chrX:68199065
|
T | C | 1 | a0001c0001t0001g0049 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1026-1801A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68199065 | ||||||
| chrX:68199713
|
C | T | 2 | a0001c0001t0001g0093a0001c0001t0003g0081 | 2 | HG00735.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.1025+1906G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68199713 | ||||||
| chrX:68199933
|
C | T | 3 | a0001c0001t0008g0096a0001c0001t0009g0128a0001c0001t0009g0129 | 3 | HG01243.hp1 HG02257.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1025+1686G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68199933 | ||||||
| chrX:68199947
|
G | A | 1 | a0001c0001t0001g0066 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1025+1672C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68199947 | ||||||
| chrX:68200129
|
C | T | 26 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(23): Show | 26 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.1025+1490G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68200129 | ||||||
| chrX:68200194
|
G | A | 1 | a0001c0001t0008g0112 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1025+1425C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68200194 | ||||||
| chrX:68200605
|
A | G | 1 | a0001c0001t0001g0028 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1025+1014T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68200605 | ||||||
| chrX:68200672
|
T | G | 152 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(149): Show | 152 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(149): Show |
intron_variant | MODIFIER | c.1025+947A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68200672 | ||||||
| chrX:68200707
|
T | A | 2 | a0001c0001t0002g0054a0001c0001t0002g0055 | 2 | NA18983.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.1025+912A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68200707 | ||||||
| chrX:68200953
|
C | A | 1 | a0001c0001t0004g0117 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.1025+666G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68200953 | ||||||
| chrX:68201268
|
G | T | 1 | a0001c0001t0009g0129 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1025+351C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 11/24 | chrX | 68201268 | ||||||
| chrX:68201962
|
G | C | 3 | a0001c0001t0008g0096a0001c0001t0009g0128a0001c0001t0009g0129 | 3 | HG01243.hp1 HG02257.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.934-252C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68201962 | ||||||
| chrX:68202206
|
G | C | 111 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(108): Show | 111 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(108): Show |
intron_variant | MODIFIER | c.934-496C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68202206 | ||||||
| chrX:68202240
|
C | T | 1 | a0001c0001t0001g0008 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.934-530G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68202240 | ||||||
| chrX:68202349
|
T | A | 6 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(3): Show | 6 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.934-639A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68202349 | ||||||
| chrX:68202430
|
T | A | 26 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(23): Show | 26 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(23): Show |
intron_variant | MODIFIER | c.934-720A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68202430 | ||||||
| chrX:68202504
|
A | AT | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.934-795dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68202504 | ||||||
| chrX:68202504
|
AT | A | 27 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(24): Show | 27 | HG01081.hp2 HG01099.hp1 HG01167.hp1 others(24): Show |
intron_variant | MODIFIER | c.934-795delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68202504 | ||||||
| chrX:68202504
|
ATT | A | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.934-796_934-795del others(2): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68202504 | ||||||
| chrX:68202528
|
C | T | 3 | a0001c0001t0008g0096a0001c0001t0009g0128a0001c0001t0009g0129 | 3 | HG01243.hp1 HG02257.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.934-818G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68202528 | ||||||
| chrX:68202735
|
T | C | 8 | a0001c0001t0002g0115a0001c0001t0002g0116a0001c0001t0007g0023others(5): Show | 8 | HG01243.hp1 HG02145.hp1 HG02257.hp1 others(5): Show |
intron_variant | MODIFIER | c.934-1025A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68202735 | ||||||
| chrX:68202890
|
T | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.934-1180A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68202890 | ||||||
| chrX:68203161
|
A | T | 3 | a0001c0001t0004g0010a0001c0001t0004g0011a0001c0001t0004g0012 | 3 | HG02280.hp2 HG02451.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.934-1451T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68203161 | ||||||
| chrX:68203437
|
T | C | 27 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(24): Show | 27 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(24): Show |
intron_variant | MODIFIER | c.934-1727A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68203437 | ||||||
| chrX:68203479
|
A | G | 122 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(119): Show | 122 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(119): Show |
intron_variant | MODIFIER | c.934-1769T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68203479 | ||||||
| chrX:68203480
|
T | C | 1 | a0001c0001t0003g0035 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.934-1770A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68203480 | ||||||
| chrX:68203673
|
A | C | 1 | a0001c0001t0002g0019 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.934-1963T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68203673 | ||||||
| chrX:68203734
|
T | C | 27 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(24): Show | 27 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(24): Show |
intron_variant | MODIFIER | c.934-2024A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68203734 | ||||||
| chrX:68203797
|
C | A | 1 | a0001c0001t0001g0093 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.934-2087G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68203797 | ||||||
| chrX:68203809
|
G | T | 27 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(24): Show | 27 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(24): Show |
intron_variant | MODIFIER | c.934-2099C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68203809 | ||||||
| chrX:68203815
|
T | C | 151 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(148): Show | 151 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
intron_variant | MODIFIER | c.934-2105A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68203815 | ||||||
| chrX:68203839
|
G | A | 151 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(148): Show | 151 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
intron_variant | MODIFIER | c.934-2129C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68203839 | ||||||
| chrX:68203858
|
C | T | 27 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(24): Show | 27 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(24): Show |
intron_variant | MODIFIER | c.934-2148G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68203858 | ||||||
| chrX:68203953
|
C | T | 2 | a0001c0001t0005g0152a0001c0001t0019g0003 | 2 | HG02630.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.934-2243G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68203953 | ||||||
| chrX:68204154
|
T | G | 2 | a0001c0001t0002g0125a0001c0001t0002g0127 | 2 | HG01255.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.933+2419A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68204154 | ||||||
| chrX:68204708
|
A | G | 2 | a0001c0001t0002g0125a0001c0001t0002g0127 | 2 | HG01255.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.933+1865T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68204708 | ||||||
| chrX:68204733
|
T | C | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp1 HG01891.hp2 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.933+1840A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68204733 | ||||||
| chrX:68205398
|
A | T | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.933+1175T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205398 | ||||||
| chrX:68205449
|
A | AAAT | 23 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(20): Show | 23 | HG01081.hp2 HG01255.hp1 HG01891.hp1 others(20): Show |
intron_variant | MODIFIER | c.933+1121_933+1123d others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205449 | ||||||
| chrX:68205449
|
A | AAATAAT | 2 | a0001c0001t0006g0120a0001c0001t0006g0121 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.933+1118_933+1123d others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205449 | ||||||
| chrX:68205491
|
G | A | 1 | a0002c0002t0001g0002 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.933+1082C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205491 | ||||||
| chrX:68205504
|
A | G | 1 | a0001c0001t0001g0080 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.933+1069T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205504 | ||||||
| chrX:68205617
|
G | A | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp1 HG01891.hp2 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.933+956C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205617 | ||||||
| chrX:68205681
|
A | G | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.933+892T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205681 | ||||||
| chrX:68205969
|
A | AGT | 3 | a0001c0001t0004g0030a0001c0001t0006g0120a0001c0001t0006g0121 | 3 | HG01081.hp2 HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.933+602_933+603dup others(2): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205969 | ||||||
| chrX:68205969
|
A | AGTGT | 3 | a0001c0001t0004g0026a0001c0001t0004g0034a0001c0001t0021g0150 | 3 | HG02055.hp1 HG03471.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.933+600_933+603dup others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205969 | ||||||
| chrX:68205969
|
A | T | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.933+604T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205969 | ||||||
| chrX:68205971
|
TGTGTGTG others(1): Show |
T | 11 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(8): Show | 11 | HG02572.hp1 HG02886.hp1 HG02922.hp1 others(8): Show |
intron_variant | MODIFIER | c.933+594_933+601del others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205971 | ||||||
| chrX:68205973
|
T | TGA | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.933+599_933+600ins others(2): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205973 | ||||||
| chrX:68205973
|
TGTGTGA | T | 5 | a0001c0001t0002g0133a0001c0001t0004g0117a0001c0001t0005g0107others(2): Show | 5 | HG01891.hp1 HG01891.hp2 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.933+594_933+599del others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205973 | ||||||
| chrX:68205975
|
TGTGA | T | 1 | a0001c0001t0002g0127 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.933+594_933+597del others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205975 | ||||||
| chrX:68205977
|
TGA | T | 4 | a0001c0001t0002g0125a0001c0001t0005g0152a0001c0001t0006g0105others(1): Show | 4 | HG01255.hp1 HG02630.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.933+594_933+595del others(2): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205977 | ||||||
| chrX:68205979
|
A | AGT | 7 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0002g0116others(4): Show | 7 | HG01258.hp1 HG01358.hp1 HG02071.hp1 others(4): Show |
intron_variant | MODIFIER | c.933+592_933+593dup others(2): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205979 | ||||||
| chrX:68205979
|
A | AGTGT | 31 | a0001c0001t0001g0016a0001c0001t0001g0025a0001c0001t0001g0038others(28): Show | 31 | HG00099.hp2 HG00735.hp2 HG01069.hp1 others(28): Show |
intron_variant | MODIFIER | c.933+590_933+593dup others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205979 | ||||||
| chrX:68205979
|
A | AGTGTGT | 10 | a0001c0001t0001g0009a0001c0001t0001g0068a0001c0001t0001g0071others(7): Show | 10 | HG00642.hp1 HG01192.hp1 HG02109.hp2 others(7): Show |
intron_variant | MODIFIER | c.933+588_933+593dup others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205979 | ||||||
| chrX:68205979
|
A | AGTGTGTG others(1): Show |
54 | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0028others(51): Show | 54 | HG00099.hp1 HG00140.hp1 HG00621.hp1 others(51): Show |
intron_variant | MODIFIER | c.933+586_933+593dup others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205979 | ||||||
| chrX:68205979
|
A | AGTGTGTG others(3): Show |
11 | a0001c0001t0001g0027a0001c0001t0001g0048a0001c0001t0001g0050others(8): Show | 11 | HG00609.hp1 HG01106.hp1 HG01346.hp2 others(8): Show |
intron_variant | MODIFIER | c.933+584_933+593dup others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205979 | ||||||
| chrX:68205979
|
A | AGTGTGTG others(5): Show |
5 | a0001c0001t0001g0060a0001c0001t0001g0079a0001c0001t0001g0090others(2): Show | 5 | HG00280.hp1 HG00673.hp1 HG01433.hp1 others(2): Show |
intron_variant | MODIFIER | c.933+582_933+593dup others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205979 | ||||||
| chrX:68205979
|
A | AGTGTGTG others(7): Show |
1 | a0001c0001t0001g0008 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.933+580_933+593dup others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205979 | ||||||
| chrX:68205979
|
A | T | 8 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(5): Show | 8 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(5): Show |
intron_variant | MODIFIER | c.933+594T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205979 | ||||||
| chrX:68205979
|
AGT | A | 3 | a0001c0001t0002g0115a0001c0001t0007g0023a0001c0001t0007g0033 | 3 | HG02145.hp1 HG02559.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.933+592_933+593del others(2): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68205979 | ||||||
| chrX:68206011
|
T | TGTGTGTG | 1 | a0001c0001t0003g0109 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.933+561_933+562ins others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68206011 | ||||||
| chrX:68206012
|
T | G | 1 | a0001c0001t0003g0063 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.933+561A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68206012 | ||||||
| chrX:68206550
|
A | T | 4 | a0001c0001t0001g0027a0001c0001t0001g0041a0001c0001t0001g0092others(1): Show | 4 | NA18960.hp1 NA18994.hp1 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.933+23T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 10/24 | chrX | 68206550 | ||||||
| chrX:68206808
|
G | A | 3 | a0001c0001t0004g0010a0001c0001t0004g0011a0001c0001t0004g0012 | 3 | HG02280.hp2 HG02451.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.833-135C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 9/24 | chrX | 68206808 | ||||||
| chrX:68206923
|
A | G | 3 | a0001c0001t0001g0143a0001c0001t0001g0146a0001c0001t0016g0119 | 3 | HG02683.hp1 HG02683.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.833-250T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 9/24 | chrX | 68206923 | ||||||
| chrX:68207132
|
AT | A | 13 | a0001c0001t0001g0009a0001c0001t0002g0014a0001c0001t0002g0108others(10): Show | 13 | HG01167.hp1 HG01169.hp1 HG01255.hp1 others(10): Show |
intron_variant | MODIFIER | c.833-460delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 9/24 | chrX | 68207132 | ||||||
| chrX:68207194
|
T | C | 2 | a0001c0001t0002g0125a0001c0001t0002g0127 | 2 | HG01255.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.833-521A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 9/24 | chrX | 68207194 | ||||||
| chrX:68207286
|
G | A | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.833-613C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 9/24 | chrX | 68207286 | ||||||
| chrX:68207289
|
C | T | 32 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(29): Show | 32 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(29): Show |
intron_variant | MODIFIER | c.833-616G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 9/24 | chrX | 68207289 | ||||||
| chrX:68207298
|
T | C | 8 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(5): Show | 8 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(5): Show |
intron_variant | MODIFIER | c.833-625A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 9/24 | chrX | 68207298 | ||||||
| chrX:68207711
|
C | G | 5 | a0001c0001t0003g0101a0001c0001t0003g0151a0001c0001t0004g0094others(2): Show | 5 | HG02723.hp1 HG03209.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.833-1038G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 9/24 | chrX | 68207711 | ||||||
| chrX:68207945
|
T | G | 31 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(28): Show | 31 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(28): Show |
intron_variant | MODIFIER | c.833-1272A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 9/24 | chrX | 68207945 | ||||||
| chrX:68208079
|
ATTCT | A | 1 | a0001c0001t0017g0036 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.833-1410_833-1407d others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 9/24 | chrX | 68208079 | ||||||
| chrX:68208124
|
T | C | 2 | a0001c0001t0005g0152a0001c0001t0019g0003 | 2 | HG02630.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.833-1451A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 9/24 | chrX | 68208124 | ||||||
| chrX:68208327
|
G | A | 1 | a0001c0001t0001g0008 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.833-1654C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 9/24 | chrX | 68208327 | ||||||
| chrX:68208725
|
A | T | 1 | a0001c0001t0003g0101 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.832+1428T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 9/24 | chrX | 68208725 | ||||||
| chrX:68208831
|
G | A | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.832+1322C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 9/24 | chrX | 68208831 | ||||||
| chrX:68209476
|
G | A | 1 | a0001c0001t0009g0128 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.832+677C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 9/24 | chrX | 68209476 | ||||||
| chrX:68209615
|
T | C | 111 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(108): Show | 111 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(108): Show |
intron_variant | MODIFIER | c.832+538A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 9/24 | chrX | 68209615 | ||||||
| chrX:68209742
|
T | G | 1 | a0001c0001t0002g0144 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.832+411A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 9/24 | chrX | 68209742 | ||||||
| chrX:68209992
|
C | CT | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.832+160dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 9/24 | chrX | 68209992 | ||||||
| chrX:68209992
|
CT | C | 142 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0016others(139): Show | 142 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(139): Show |
intron_variant | MODIFIER | c.832+160delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 9/24 | chrX | 68209992 | ||||||
| chrX:68210027
|
C | T | 1 | a0001c0001t0008g0096 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.832+126G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 9/24 | chrX | 68210027 | ||||||
| chrX:68210528
|
T | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.703-246A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 8/24 | chrX | 68210528 | ||||||
| chrX:68210568
|
A | G | 2 | a0001c0001t0001g0146a0001c0001t0016g0119 | 2 | HG02683.hp1 HG02683.hp2 |
intron_variant | MODIFIER | c.703-286T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 8/24 | chrX | 68210568 | ||||||
| chrX:68210903
|
G | C | 2 | a0001c0001t0005g0152a0001c0001t0019g0003 | 2 | HG02630.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.703-621C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 8/24 | chrX | 68210903 | ||||||
| chrX:68211181
|
A | T | 2 | a0001c0001t0002g0125a0001c0001t0002g0127 | 2 | HG01255.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.703-899T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 8/24 | chrX | 68211181 | ||||||
| chrX:68211216
|
AT | A | 140 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(137): Show | 140 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(137): Show |
intron_variant | MODIFIER | c.702+891delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 8/24 | chrX | 68211216 | ||||||
| chrX:68211329
|
C | A | 1 | a0001c0001t0003g0076 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.702+779G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 8/24 | chrX | 68211329 | ||||||
| chrX:68211706
|
G | T | 2 | a0001c0001t0005g0152a0001c0001t0019g0003 | 2 | HG02630.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.702+402C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 8/24 | chrX | 68211706 | ||||||
| chrX:68211972
|
A | G | 82 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(79): Show | 82 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.702+136T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 8/24 | chrX | 68211972 | ||||||
| chrX:68212079
|
C | T | 19 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(16): Show | 19 | HG00642.hp1 HG00735.hp2 HG01081.hp1 others(16): Show |
intron_variant | MODIFIER | c.702+29G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 8/24 | chrX | 68212079 | ||||||
| chrX:68212278
|
T | C | 1 | a0001c0001t0001g0082 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.598-66A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 7/24 | chrX | 68212278 | ||||||
| chrX:68212376
|
G | A | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.598-164C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 7/24 | chrX | 68212376 | ||||||
| chrX:68212457
|
C | T | 82 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(79): Show | 82 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.598-245G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 7/24 | chrX | 68212457 | ||||||
| chrX:68212770
|
T | C | 148 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(145): Show | 148 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
intron_variant | MODIFIER | c.598-558A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 7/24 | chrX | 68212770 | ||||||
| chrX:68213189
|
T | C | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.597+673A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 7/24 | chrX | 68213189 | ||||||
| chrX:68213384
|
A | G | 31 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(28): Show | 31 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(28): Show |
intron_variant | MODIFIER | c.597+478T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 7/24 | chrX | 68213384 | ||||||
| chrX:68213410
|
T | A | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.597+452A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 7/24 | chrX | 68213410 | ||||||
| chrX:68213548
|
G | A | 2 | a0001c0001t0002g0125a0001c0001t0002g0127 | 2 | HG01255.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.597+314C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 7/24 | chrX | 68213548 | ||||||
| chrX:68213723
|
G | A | 1 | a0001c0001t0003g0063 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.597+139C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 7/24 | chrX | 68213723 | ||||||
| chrX:68213729
|
T | C | 1 | a0001c0001t0001g0140 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.597+133A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 7/24 | chrX | 68213729 | ||||||
| chrX:68214044
|
C | G | 2 | a0001c0001t0002g0054a0001c0001t0002g0055 | 2 | NA18983.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.487-72G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68214044 | ||||||
| chrX:68214907
|
G | C | 1 | a0001c0001t0001g0009 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.487-935C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68214907 | ||||||
| chrX:68215079
|
C | T | 3 | a0001c0001t0001g0008a0001c0001t0001g0079a0001c0001t0001g0090 | 3 | HG01346.hp1 HG01433.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.487-1107G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68215079 | ||||||
| chrX:68215905
|
G | A | 9 | a0001c0001t0001g0016a0001c0001t0001g0046a0001c0001t0001g0059others(6): Show | 9 | HG00099.hp1 HG00140.hp1 HG01069.hp1 others(6): Show |
intron_variant | MODIFIER | c.487-1933C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68215905 | ||||||
| chrX:68215975
|
T | G | 31 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(28): Show | 31 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(28): Show |
intron_variant | MODIFIER | c.487-2003A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68215975 | ||||||
| chrX:68216493
|
T | C | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.487-2521A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68216493 | ||||||
| chrX:68216937
|
A | G | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.487-2965T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68216937 | ||||||
| chrX:68217018
|
G | A | 1 | a0001c0001t0002g0127 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.487-3046C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217018 | ||||||
| chrX:68217054
|
G | C | 141 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(138): Show | 141 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(138): Show |
intron_variant | MODIFIER | c.487-3082C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217054 | ||||||
| chrX:68217061
|
G | C | 2 | a0001c0001t0002g0125a0001c0001t0002g0127 | 2 | HG01255.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.487-3089C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217061 | ||||||
| chrX:68217070
|
C | T | 2 | a0001c0001t0002g0125a0001c0001t0002g0127 | 2 | HG01255.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.487-3098G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217070 | ||||||
| chrX:68217086
|
C | T | 1 | a0002c0002t0001g0002 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.487-3114G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217086 | ||||||
| chrX:68217096
|
C | A | 1 | a0001c0001t0004g0117 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.487-3124G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217096 | ||||||
| chrX:68217124
|
A | AG | 1 | a0001c0001t0001g0147 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.487-3153dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217124 | ||||||
| chrX:68217140
|
C | T | 1 | a0002c0002t0003g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.487-3168G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217140 | ||||||
| chrX:68217172
|
G | A | 3 | a0001c0001t0008g0096a0001c0001t0009g0128a0001c0001t0009g0129 | 3 | HG01243.hp1 HG02257.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.487-3200C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217172 | ||||||
| chrX:68217206
|
C | T | 1 | a0001c0001t0001g0149 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.487-3234G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217206 | ||||||
| chrX:68217234
|
G | C | 6 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(3): Show | 6 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.487-3262C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217234 | ||||||
| chrX:68217380
|
A | G | 130 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(127): Show | 130 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
intron_variant | MODIFIER | c.487-3408T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217380 | ||||||
| chrX:68217380
|
A | T | 3 | a0001c0001t0001g0143a0001c0001t0001g0146a0001c0001t0016g0119 | 3 | HG02683.hp1 HG02683.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.487-3408T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217380 | ||||||
| chrX:68217422
|
C | T | 2 | a0001c0001t0002g0135a0001c0001t0003g0111 | 2 | HG02976.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.487-3450G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217422 | ||||||
| chrX:68217447
|
T | A | 1 | a0001c0001t0030g0155 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.487-3475A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217447 | ||||||
| chrX:68217567
|
T | C | 132 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(129): Show | 132 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
intron_variant | MODIFIER | c.487-3595A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217567 | ||||||
| chrX:68217587
|
C | T | 33 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(30): Show | 33 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(30): Show |
intron_variant | MODIFIER | c.487-3615G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217587 | ||||||
| chrX:68217823
|
T | TG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.487-3852dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217823 | ||||||
| chrX:68217843
|
AAAACCGG | A | 82 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(79): Show | 82 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.487-3878_487-3872d others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217843 | ||||||
| chrX:68217849
|
G | A | 1 | a0001c0001t0004g0010 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.487-3877C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217849 | ||||||
| chrX:68217870
|
G | A | 82 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(79): Show | 82 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.487-3898C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217870 | ||||||
| chrX:68217988
|
A | G | 132 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(129): Show | 132 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
intron_variant | MODIFIER | c.487-4016T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68217988 | ||||||
| chrX:68218106
|
C | T | 4 | a0001c0001t0004g0010a0001c0001t0004g0011a0001c0001t0004g0012others(1): Show | 4 | HG02280.hp2 HG02451.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.487-4134G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68218106 | ||||||
| chrX:68218155
|
G | A | 30 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(27): Show | 30 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(27): Show |
intron_variant | MODIFIER | c.487-4183C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68218155 | ||||||
| chrX:68218162
|
T | A | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.487-4190A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68218162 | ||||||
| chrX:68218209
|
T | C | 2 | a0001c0001t0001g0093a0001c0001t0003g0081 | 2 | HG00735.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.487-4237A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68218209 | ||||||
| chrX:68218307
|
T | C | 117 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(114): Show | 117 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(114): Show |
intron_variant | MODIFIER | c.487-4335A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68218307 | ||||||
| chrX:68218312
|
C | A | 6 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(3): Show | 6 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.487-4340G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68218312 | ||||||
| chrX:68218370
|
A | G | 132 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(129): Show | 132 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
intron_variant | MODIFIER | c.487-4398T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68218370 | ||||||
| chrX:68218376
|
A | C | 132 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(129): Show | 132 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
intron_variant | MODIFIER | c.487-4404T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68218376 | ||||||
| chrX:68218377
|
T | A | 132 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(129): Show | 132 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
intron_variant | MODIFIER | c.487-4405A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68218377 | ||||||
| chrX:68218457
|
G | A | 1 | a0001c0001t0002g0133 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.487-4485C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68218457 | ||||||
| chrX:68218503
|
G | GA | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.487-4532dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68218503 | ||||||
| chrX:68218536
|
C | G | 82 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(79): Show | 82 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.487-4564G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68218536 | ||||||
| chrX:68218557
|
C | T | 1 | a0001c0001t0006g0105 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.487-4585G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68218557 | ||||||
| chrX:68218560
|
A | C | 1 | a0001c0001t0006g0105 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.487-4588T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68218560 | ||||||
| chrX:68218637
|
A | G | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.487-4665T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68218637 | ||||||
| chrX:68218749
|
A | G | 1 | a0001c0001t0007g0022 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.487-4777T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68218749 | ||||||
| chrX:68218788
|
A | G | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.487-4816T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68218788 | ||||||
| chrX:68218803
|
C | T | 132 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(129): Show | 132 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
intron_variant | MODIFIER | c.487-4831G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68218803 | ||||||
| chrX:68218818
|
C | A | 19 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(16): Show | 19 | HG00642.hp1 HG00735.hp2 HG01081.hp1 others(16): Show |
intron_variant | MODIFIER | c.487-4846G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68218818 | ||||||
| chrX:68218994
|
A | T | 82 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(79): Show | 82 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.487-5022T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68218994 | ||||||
| chrX:68219181
|
G | C | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.487-5209C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68219181 | ||||||
| chrX:68219266
|
C | A | 35 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(32): Show | 35 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(32): Show |
intron_variant | MODIFIER | c.487-5294G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68219266 | ||||||
| chrX:68219267
|
A | C | 36 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(33): Show | 36 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(33): Show |
intron_variant | MODIFIER | c.487-5295T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68219267 | ||||||
| chrX:68219384
|
C | T | 1 | a0001c0001t0015g0148 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.487-5412G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68219384 | ||||||
| chrX:68219396
|
T | C | 132 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(129): Show | 132 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
intron_variant | MODIFIER | c.487-5424A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68219396 | ||||||
| chrX:68219426
|
G | A | 2 | a0001c0001t0001g0146a0001c0001t0016g0119 | 2 | HG02683.hp1 HG02683.hp2 |
intron_variant | MODIFIER | c.487-5454C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68219426 | ||||||
| chrX:68219431
|
T | G | 132 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(129): Show | 132 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
intron_variant | MODIFIER | c.487-5459A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68219431 | ||||||
| chrX:68219482
|
T | A | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.487-5510A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68219482 | ||||||
| chrX:68219510
|
A | G | 4 | a0001c0001t0004g0010a0001c0001t0004g0011a0001c0001t0004g0012others(1): Show | 4 | HG02280.hp2 HG02451.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.487-5538T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68219510 | ||||||
| chrX:68219620
|
C | T | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.487-5648G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68219620 | ||||||
| chrX:68219630
|
T | C | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.487-5658A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68219630 | ||||||
| chrX:68219871
|
A | C | 141 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(138): Show | 141 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(138): Show |
intron_variant | MODIFIER | c.487-5899T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68219871 | ||||||
| chrX:68219941
|
T | G | 2 | a0001c0001t0001g0015a0001c0001t0003g0122 | 2 | NA19004.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.487-5969A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68219941 | ||||||
| chrX:68219993
|
C | G | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.487-6021G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68219993 | ||||||
| chrX:68220075
|
G | A | 1 | a0001c0001t0008g0096 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.487-6103C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68220075 | ||||||
| chrX:68220212
|
T | C | 31 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(28): Show | 31 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(28): Show |
intron_variant | MODIFIER | c.487-6240A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68220212 | ||||||
| chrX:68220247
|
T | C | 1 | a0001c0001t0001g0049 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.487-6275A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68220247 | ||||||
| chrX:68220251
|
T | G | 132 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(129): Show | 132 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
intron_variant | MODIFIER | c.487-6279A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68220251 | ||||||
| chrX:68220468
|
G | A | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.487-6496C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68220468 | ||||||
| chrX:68220524
|
A | T | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.487-6552T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68220524 | ||||||
| chrX:68220543
|
G | A | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.487-6571C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68220543 | ||||||
| chrX:68220548
|
A | C | 4 | a0001c0001t0004g0010a0001c0001t0004g0011a0001c0001t0004g0012others(1): Show | 4 | HG02280.hp2 HG02451.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.487-6576T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68220548 | ||||||
| chrX:68220626
|
T | C | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.487-6654A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68220626 | ||||||
| chrX:68220731
|
AC | A | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.487-6760delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68220731 | ||||||
| chrX:68220780
|
T | G | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.487-6808A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68220780 | ||||||
| chrX:68220863
|
A | G | 1 | a0001c0001t0001g0080 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.487-6891T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68220863 | ||||||
| chrX:68220879
|
G | A | 1 | a0001c0001t0003g0035 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.487-6907C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68220879 | ||||||
| chrX:68220899
|
T | C | 84 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(81): Show | 84 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(81): Show |
intron_variant | MODIFIER | c.487-6927A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68220899 | ||||||
| chrX:68220968
|
A | G | 1 | a0001c0001t0013g0042 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.487-6996T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68220968 | ||||||
| chrX:68221007
|
C | T | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.487-7035G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68221007 | ||||||
| chrX:68221025
|
A | G | 2 | a0001c0001t0002g0125a0001c0001t0002g0127 | 2 | HG01255.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.487-7053T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68221025 | ||||||
| chrX:68221055
|
C | A | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.487-7083G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68221055 | ||||||
| chrX:68221214
|
C | T | 1 | a0001c0001t0003g0151 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.487-7242G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68221214 | ||||||
| chrX:68221240
|
C | T | 2 | a0001c0001t0002g0124a0001c0001t0002g0144 | 2 | HG02132.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.487-7268G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68221240 | ||||||
| chrX:68221390
|
T | G | 148 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(145): Show | 148 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
intron_variant | MODIFIER | c.487-7418A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68221390 | ||||||
| chrX:68221393
|
C | A | 148 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(145): Show | 148 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
intron_variant | MODIFIER | c.487-7421G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68221393 | ||||||
| chrX:68221482
|
G | A | 31 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(28): Show | 31 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(28): Show |
intron_variant | MODIFIER | c.487-7510C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68221482 | ||||||
| chrX:68221494
|
A | T | 7 | a0001c0001t0004g0004a0001c0001t0004g0026a0001c0001t0004g0030others(4): Show | 7 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.487-7522T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68221494 | ||||||
| chrX:68221509
|
C | T | 1 | a0001c0001t0001g0009 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.487-7537G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68221509 | ||||||
| chrX:68221531
|
C | A | 1 | a0001c0001t0001g0051 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.487-7559G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68221531 | ||||||
| chrX:68221582
|
G | T | 122 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(119): Show | 122 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(119): Show |
intron_variant | MODIFIER | c.487-7610C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68221582 | ||||||
| chrX:68221604
|
G | C | 1 | a0001c0001t0001g0147 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.487-7632C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68221604 | ||||||
| chrX:68221620
|
T | C | 1 | a0001c0001t0001g0043 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.487-7648A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68221620 | ||||||
| chrX:68221677
|
G | GA | 141 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(138): Show | 141 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(138): Show |
intron_variant | MODIFIER | c.487-7706dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68221677 | ||||||
| chrX:68221705
|
TG | T | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.487-7734delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68221705 | ||||||
| chrX:68221764
|
T | TA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.487-7793dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68221764 | ||||||
| chrX:68221826
|
T | C | 2 | a0001c0001t0003g0076a0001c0001t0003g0100 | 2 | HG01106.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.487-7854A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68221826 | ||||||
| chrX:68221842
|
T | C | 132 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(129): Show | 132 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
intron_variant | MODIFIER | c.487-7870A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68221842 | ||||||
| chrX:68221853
|
A | AG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.487-7882dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68221853 | ||||||
| chrX:68221907
|
C | CA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.487-7936dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68221907 | ||||||
| chrX:68222015
|
T | C | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.487-8043A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222015 | ||||||
| chrX:68222037
|
A | AG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.487-8066dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222037 | ||||||
| chrX:68222169
|
C | A | 1 | a0001c0001t0003g0113 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.487-8197G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222169 | ||||||
| chrX:68222172
|
G | GA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.487-8201dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222172 | ||||||
| chrX:68222184
|
G | A | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.487-8212C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222184 | ||||||
| chrX:68222332
|
G | GGA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.487-8361_487-8360i others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222332 | ||||||
| chrX:68222333
|
A | C | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.487-8361T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222333 | ||||||
| chrX:68222341
|
CT | C | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.487-8370delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222341 | ||||||
| chrX:68222373
|
A | G | 31 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(28): Show | 31 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(28): Show |
intron_variant | MODIFIER | c.487-8401T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222373 | ||||||
| chrX:68222375
|
T | TC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.487-8404dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222375 | ||||||
| chrX:68222441
|
A | AG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.487-8470dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222441 | ||||||
| chrX:68222492
|
C | T | 3 | a0001c0001t0001g0045a0001c0001t0001g0068a0001c0001t0001g0073 | 3 | NA19066.hp1 NA19068.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.487-8520G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222492 | ||||||
| chrX:68222576
|
A | T | 3 | a0001c0001t0003g0151a0001c0001t0004g0094a0001c0001t0004g0095 | 3 | HG03209.hp1 HG03516.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.487-8604T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222576 | ||||||
| chrX:68222589
|
G | C | 130 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(127): Show | 130 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
intron_variant | MODIFIER | c.487-8617C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222589 | ||||||
| chrX:68222600
|
T | C | 1 | a0001c0001t0001g0038 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.487-8628A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222600 | ||||||
| chrX:68222625
|
G | GT | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.487-8654dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222625 | ||||||
| chrX:68222627
|
A | G | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.487-8655T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222627 | ||||||
| chrX:68222650
|
T | C | 2 | a0001c0001t0005g0152a0001c0001t0019g0003 | 2 | HG02630.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.487-8678A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222650 | ||||||
| chrX:68222687
|
C | T | 30 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(27): Show | 30 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(27): Show |
intron_variant | MODIFIER | c.487-8715G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222687 | ||||||
| chrX:68222750
|
G | A | 30 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(27): Show | 30 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(27): Show |
intron_variant | MODIFIER | c.487-8778C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222750 | ||||||
| chrX:68222783
|
T | TG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.487-8812dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222783 | ||||||
| chrX:68222790
|
A | AG | 2 | a0001c0001t0001g0062a0001c0001t0002g0123 | 2 | HG02027.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.487-8819dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222790 | ||||||
| chrX:68222798
|
G | C | 2 | a0001c0001t0001g0045a0001c0001t0001g0078 | 2 | NA19085.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.487-8826C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222798 | ||||||
| chrX:68222852
|
G | GCA | 154 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(151): Show | 154 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
intron_variant | MODIFIER | c.487-8881_487-8880i others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222852 | ||||||
| chrX:68222856
|
GC | G | 154 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(151): Show | 154 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
intron_variant | MODIFIER | c.487-8885delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222856 | ||||||
| chrX:68222887
|
C | G | 82 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(79): Show | 82 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.487-8915G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222887 | ||||||
| chrX:68222978
|
T | TA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.487-9007dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68222978 | ||||||
| chrX:68223048
|
T | TG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.487-9077dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68223048 | ||||||
| chrX:68223058
|
G | C | 2 | a0001c0001t0002g0125a0001c0001t0002g0127 | 2 | HG01255.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.487-9086C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68223058 | ||||||
| chrX:68223083
|
TG | T | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.487-9112delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68223083 | ||||||
| chrX:68223161
|
A | C | 1 | a0001c0001t0001g0093 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.487-9189T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68223161 | ||||||
| chrX:68223186
|
G | T | 11 | a0001c0001t0002g0019a0001c0001t0002g0021a0001c0001t0002g0134others(8): Show | 11 | HG00099.hp2 HG02109.hp2 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.487-9214C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68223186 | ||||||
| chrX:68223284
|
A | G | 1 | a0001c0001t0003g0091 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.487-9312T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68223284 | ||||||
| chrX:68223541
|
C | T | 2 | a0001c0001t0002g0125a0001c0001t0002g0127 | 2 | HG01255.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.487-9569G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68223541 | ||||||
| chrX:68223606
|
C | T | 1 | a0001c0001t0001g0039 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.487-9634G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68223606 | ||||||
| chrX:68223826
|
A | AC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.487-9855dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68223826 | ||||||
| chrX:68223911
|
A | AT | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.487-9940dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68223911 | ||||||
| chrX:68224091
|
T | C | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.487-10119A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68224091 | ||||||
| chrX:68224110
|
T | TG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.487-10139dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68224110 | ||||||
| chrX:68224178
|
C | T | 1 | a0001c0001t0001g0082 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.487-10206G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68224178 | ||||||
| chrX:68224249
|
A | AG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+10237_486+1023 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68224249 | ||||||
| chrX:68224263
|
C | A | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.486+10224G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68224263 | ||||||
| chrX:68224419
|
A | AG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+10067dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68224419 | ||||||
| chrX:68224463
|
G | GC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+10023dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68224463 | ||||||
| chrX:68224509
|
A | C | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+9978T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68224509 | ||||||
| chrX:68224576
|
C | CA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+9910dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68224576 | ||||||
| chrX:68224597
|
A | T | 1 | a0001c0001t0013g0042 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.486+9890T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68224597 | ||||||
| chrX:68224788
|
G | GT | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+9698dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68224788 | ||||||
| chrX:68224821
|
T | TG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+9665dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68224821 | ||||||
| chrX:68224868
|
C | CG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+9618dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68224868 | ||||||
| chrX:68225012
|
C | G | 1 | a0001c0001t0001g0049 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.486+9475G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225012 | ||||||
| chrX:68225014
|
C | CT | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+9472dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225014 | ||||||
| chrX:68225037
|
T | TC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+9449dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225037 | ||||||
| chrX:68225043
|
G | A | 2 | a0001c0001t0002g0133a0001c0001t0003g0151 | 2 | HG01891.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.486+9444C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225043 | ||||||
| chrX:68225075
|
T | C | 2 | a0002c0002t0001g0002a0002c0002t0003g0001 | 2 | HG01358.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.486+9412A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225075 | ||||||
| chrX:68225110
|
A | AG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+9376dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225110 | ||||||
| chrX:68225145
|
G | A | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.486+9342C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225145 | ||||||
| chrX:68225230
|
G | GA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+9256dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225230 | ||||||
| chrX:68225238
|
T | TG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+9248dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225238 | ||||||
| chrX:68225302
|
A | AT | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+9184dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225302 | ||||||
| chrX:68225362
|
T | C | 3 | a0001c0001t0004g0026a0001c0001t0006g0120a0001c0001t0006g0121 | 3 | HG01167.hp1 HG01169.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.486+9125A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225362 | ||||||
| chrX:68225374
|
T | TG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+9112dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225374 | ||||||
| chrX:68225433
|
T | TC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+9053dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225433 | ||||||
| chrX:68225439
|
A | AC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+9047dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225439 | ||||||
| chrX:68225506
|
G | GC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+8980dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225506 | ||||||
| chrX:68225534
|
C | CG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+8952dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225534 | ||||||
| chrX:68225574
|
G | GT | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+8912dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225574 | ||||||
| chrX:68225597
|
A | AC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+8889dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225597 | ||||||
| chrX:68225675
|
G | GA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+8811dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225675 | ||||||
| chrX:68225697
|
C | CA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+8789dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225697 | ||||||
| chrX:68225706
|
C | CA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+8780dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225706 | ||||||
| chrX:68225722
|
C | T | 1 | a0001c0001t0003g0113 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.486+8765G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225722 | ||||||
| chrX:68225762
|
A | AG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+8724dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225762 | ||||||
| chrX:68225997
|
A | AT | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+8489dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68225997 | ||||||
| chrX:68226067
|
G | GA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+8419dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68226067 | ||||||
| chrX:68226106
|
G | A | 4 | a0001c0001t0004g0010a0001c0001t0004g0011a0001c0001t0004g0012others(1): Show | 4 | HG02280.hp2 HG02451.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.486+8381C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68226106 | ||||||
| chrX:68226231
|
G | GA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+8255dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68226231 | ||||||
| chrX:68226329
|
T | C | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+8158A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68226329 | ||||||
| chrX:68226330
|
C | T | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+8157G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68226330 | ||||||
| chrX:68226341
|
C | CA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+8145dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68226341 | ||||||
| chrX:68226370
|
A | AC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+8116_486+8117i others(3): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68226370 | ||||||
| chrX:68226435
|
C | T | 1 | a0001c0001t0013g0042 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.486+8052G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68226435 | ||||||
| chrX:68226506
|
A | AG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+7980dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68226506 | ||||||
| chrX:68226579
|
C | CT | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+7907dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68226579 | ||||||
| chrX:68226625
|
A | C | 30 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(27): Show | 30 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(27): Show |
intron_variant | MODIFIER | c.486+7862T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68226625 | ||||||
| chrX:68226645
|
AG | A | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+7841delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68226645 | ||||||
| chrX:68226649
|
G | A | 31 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(28): Show | 31 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(28): Show |
intron_variant | MODIFIER | c.486+7838C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68226649 | ||||||
| chrX:68226701
|
G | A | 1 | a0001c0001t0003g0063 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.486+7786C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68226701 | ||||||
| chrX:68226747
|
G | GA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+7739dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68226747 | ||||||
| chrX:68226773
|
G | A | 140 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(137): Show | 140 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(137): Show |
intron_variant | MODIFIER | c.486+7714C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68226773 | ||||||
| chrX:68226819
|
C | T | 1 | a0001c0001t0002g0133 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.486+7668G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68226819 | ||||||
| chrX:68226877
|
A | AC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+7609dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68226877 | ||||||
| chrX:68226922
|
A | AG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+7564dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68226922 | ||||||
| chrX:68226981
|
G | GA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+7505dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68226981 | ||||||
| chrX:68227035
|
AG | A | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+7451delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68227035 | ||||||
| chrX:68227079
|
A | T | 6 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(3): Show | 6 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.486+7408T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68227079 | ||||||
| chrX:68227126
|
A | AT | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+7360dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68227126 | ||||||
| chrX:68227135
|
C | CA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+7351dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68227135 | ||||||
| chrX:68227235
|
A | C | 2 | a0002c0002t0001g0002a0002c0002t0003g0001 | 2 | HG01358.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.486+7252T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68227235 | ||||||
| chrX:68227295
|
C | CA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+7191dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68227295 | ||||||
| chrX:68227329
|
T | TC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+7157dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68227329 | ||||||
| chrX:68227432
|
A | AC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+7054dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68227432 | ||||||
| chrX:68227441
|
C | T | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.486+7046G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68227441 | ||||||
| chrX:68227462
|
C | T | 1 | a0001c0001t0002g0133 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.486+7025G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68227462 | ||||||
| chrX:68227482
|
T | TA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+7004dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68227482 | ||||||
| chrX:68227517
|
C | T | 31 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(28): Show | 31 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(28): Show |
intron_variant | MODIFIER | c.486+6970G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68227517 | ||||||
| chrX:68227545
|
T | TA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+6941dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68227545 | ||||||
| chrX:68227611
|
A | AAC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+6875_486+6876i others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68227611 | ||||||
| chrX:68227680
|
C | CA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+6806dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68227680 | ||||||
| chrX:68227709
|
G | A | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.486+6778C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68227709 | ||||||
| chrX:68227767
|
G | A | 22 | a0001c0001t0002g0115a0001c0001t0002g0125a0001c0001t0002g0127others(19): Show | 22 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(19): Show |
intron_variant | MODIFIER | c.486+6720C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68227767 | ||||||
| chrX:68227838
|
T | TA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+6648dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68227838 | ||||||
| chrX:68227888
|
G | C | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.486+6599C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68227888 | ||||||
| chrX:68227934
|
C | CA | 2 | a0001c0001t0001g0029a0001c0001t0003g0113 | 2 | HG02723.hp2 NA18988.hp1 |
intron_variant | MODIFIER | c.486+6552dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68227934 | ||||||
| chrX:68227967
|
G | T | 7 | a0001c0001t0004g0004a0001c0001t0004g0026a0001c0001t0004g0030others(4): Show | 7 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.486+6520C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68227967 | ||||||
| chrX:68228044
|
C | T | 22 | a0001c0001t0002g0115a0001c0001t0002g0125a0001c0001t0002g0127others(19): Show | 22 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(19): Show |
intron_variant | MODIFIER | c.486+6443G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68228044 | ||||||
| chrX:68228223
|
C | A | 22 | a0001c0001t0002g0115a0001c0001t0002g0125a0001c0001t0002g0127others(19): Show | 22 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(19): Show |
intron_variant | MODIFIER | c.486+6264G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68228223 | ||||||
| chrX:68228264
|
T | C | 3 | a0001c0001t0001g0052a0001c0001t0001g0149a0001c0001t0002g0123 | 3 | HG02027.hp1 HG02135.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.486+6223A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68228264 | ||||||
| chrX:68228374
|
T | C | 2 | a0001c0001t0006g0013a0001c0001t0007g0032 | 2 | HG02630.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.486+6113A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68228374 | ||||||
| chrX:68228409
|
G | GA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+6077dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68228409 | ||||||
| chrX:68228452
|
CA | C | 22 | a0001c0001t0002g0115a0001c0001t0002g0125a0001c0001t0002g0127others(19): Show | 22 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(19): Show |
intron_variant | MODIFIER | c.486+6034delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68228452 | ||||||
| chrX:68228575
|
G | C | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+5912C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68228575 | ||||||
| chrX:68228599
|
C | G | 2 | a0001c0001t0002g0125a0001c0001t0002g0127 | 2 | HG01255.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.486+5888G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68228599 | ||||||
| chrX:68228645
|
A | G | 9 | a0001c0001t0004g0004a0001c0001t0004g0026a0001c0001t0004g0030others(6): Show | 9 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(6): Show |
intron_variant | MODIFIER | c.486+5842T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68228645 | ||||||
| chrX:68228698
|
A | AC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+5788dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68228698 | ||||||
| chrX:68228776
|
C | T | 4 | a0001c0001t0004g0010a0001c0001t0004g0011a0001c0001t0004g0012others(1): Show | 4 | HG02280.hp2 HG02451.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.486+5711G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68228776 | ||||||
| chrX:68228786
|
C | CA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+5700dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68228786 | ||||||
| chrX:68228797
|
C | T | 2 | a0001c0001t0002g0135a0001c0001t0003g0111 | 2 | HG02976.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.486+5690G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68228797 | ||||||
| chrX:68228870
|
C | T | 1 | a0001c0001t0002g0021 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.486+5617G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68228870 | ||||||
| chrX:68229083
|
T | C | 82 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(79): Show | 82 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.486+5404A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68229083 | ||||||
| chrX:68229146
|
T | TG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+5340dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68229146 | ||||||
| chrX:68229151
|
T | TC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+5335dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68229151 | ||||||
| chrX:68229226
|
A | AG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+5260dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68229226 | ||||||
| chrX:68229402
|
G | GA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+5084dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68229402 | ||||||
| chrX:68229475
|
G | A | 2 | a0001c0001t0002g0125a0001c0001t0002g0127 | 2 | HG01255.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.486+5012C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68229475 | ||||||
| chrX:68229529
|
T | TA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+4957dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68229529 | ||||||
| chrX:68229555
|
C | CA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+4931dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68229555 | ||||||
| chrX:68229564
|
T | G | 148 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(145): Show | 148 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
intron_variant | MODIFIER | c.486+4923A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68229564 | ||||||
| chrX:68229566
|
T | G | 148 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(145): Show | 148 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
intron_variant | MODIFIER | c.486+4921A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68229566 | ||||||
| chrX:68229816
|
G | GA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+4670dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68229816 | ||||||
| chrX:68229847
|
G | GC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+4639dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68229847 | ||||||
| chrX:68229869
|
T | C | 1 | a0001c0001t0001g0051 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.486+4618A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68229869 | ||||||
| chrX:68229888
|
G | A | 1 | a0001c0001t0002g0133 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.486+4599C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68229888 | ||||||
| chrX:68229898
|
C | A | 31 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(28): Show | 31 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(28): Show |
intron_variant | MODIFIER | c.486+4589G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68229898 | ||||||
| chrX:68229929
|
A | C | 3 | a0001c0001t0001g0015a0001c0001t0001g0154a0001c0001t0003g0101 | 3 | HG02723.hp1 NA19004.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.486+4558T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68229929 | ||||||
| chrX:68230016
|
T | TG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+4470dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68230016 | ||||||
| chrX:68230022
|
A | AG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+4464dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68230022 | ||||||
| chrX:68230081
|
A | AC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+4405dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68230081 | ||||||
| chrX:68230088
|
C | CA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+4398dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68230088 | ||||||
| chrX:68230123
|
C | CA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+4363dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68230123 | ||||||
| chrX:68230193
|
G | GC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+4293dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68230193 | ||||||
| chrX:68230362
|
C | T | 8 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(5): Show | 8 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(5): Show |
intron_variant | MODIFIER | c.486+4125G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68230362 | ||||||
| chrX:68230404
|
C | A | 2 | a0001c0001t0001g0068a0001c0001t0001g0073 | 2 | NA19066.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.486+4083G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68230404 | ||||||
| chrX:68230501
|
T | C | 130 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(127): Show | 130 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
intron_variant | MODIFIER | c.486+3986A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68230501 | ||||||
| chrX:68230544
|
GA | G | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+3942delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68230544 | ||||||
| chrX:68230613
|
A | AG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+3873dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68230613 | ||||||
| chrX:68230620
|
T | TG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+3866dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68230620 | ||||||
| chrX:68230635
|
A | AAC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+3851_486+3852i others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68230635 | ||||||
| chrX:68230658
|
G | A | 31 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(28): Show | 31 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(28): Show |
intron_variant | MODIFIER | c.486+3829C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68230658 | ||||||
| chrX:68230732
|
G | C | 1 | a0001c0001t0001g0077 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.486+3755C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68230732 | ||||||
| chrX:68230769
|
T | TG | 1 | a0001c0001t0003g0065 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.486+3717dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68230769 | ||||||
| chrX:68230776
|
A | AG | 2 | a0001c0001t0001g0044a0001c0001t0001g0053 | 2 | HG03942.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.486+3710dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68230776 | ||||||
| chrX:68231021
|
A | G | 82 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(79): Show | 82 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.486+3466T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68231021 | ||||||
| chrX:68231031
|
T | TA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+3455dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68231031 | ||||||
| chrX:68231197
|
G | GAA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+3288_486+3289d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68231197 | ||||||
| chrX:68231271
|
T | C | 1 | a0001c0001t0026g0056 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.486+3216A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68231271 | ||||||
| chrX:68231283
|
C | CT | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+3203dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68231283 | ||||||
| chrX:68231308
|
T | TG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+3178dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68231308 | ||||||
| chrX:68231418
|
C | G | 1 | a0001c0001t0004g0026 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.486+3069G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68231418 | ||||||
| chrX:68231507
|
C | T | 6 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(3): Show | 6 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.486+2980G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68231507 | ||||||
| chrX:68231542
|
C | G | 130 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(127): Show | 130 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
intron_variant | MODIFIER | c.486+2945G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68231542 | ||||||
| chrX:68231578
|
C | T | 6 | a0001c0001t0002g0130a0001c0001t0002g0131a0001c0001t0004g0010others(3): Show | 6 | HG02280.hp2 HG02451.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.486+2909G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68231578 | ||||||
| chrX:68231671
|
T | TG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+2815dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68231671 | ||||||
| chrX:68231710
|
A | AT | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+2776dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68231710 | ||||||
| chrX:68231914
|
G | GC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+2572dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68231914 | ||||||
| chrX:68231931
|
A | AT | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.486+2555_486+2556i others(3): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68231931 | ||||||
| chrX:68232221
|
A | AG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+2265dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68232221 | ||||||
| chrX:68232330
|
A | C | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+2157T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68232330 | ||||||
| chrX:68232386
|
A | C | 152 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(149): Show | 152 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(149): Show |
intron_variant | MODIFIER | c.486+2101T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68232386 | ||||||
| chrX:68232482
|
AG | A | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+2004delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68232482 | ||||||
| chrX:68232531
|
G | GT | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+1955dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68232531 | ||||||
| chrX:68232594
|
C | CG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+1892dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68232594 | ||||||
| chrX:68232790
|
C | T | 33 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(30): Show | 33 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(30): Show |
intron_variant | MODIFIER | c.486+1697G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68232790 | ||||||
| chrX:68232792
|
C | T | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.486+1695G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68232792 | ||||||
| chrX:68232814
|
G | GA | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.486+1672dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68232814 | ||||||
| chrX:68232928
|
G | T | 1 | a0001c0001t0008g0096 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.486+1559C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68232928 | ||||||
| chrX:68232929
|
C | CT | 32 | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0044others(29): Show | 32 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(29): Show |
intron_variant | MODIFIER | c.486+1557dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68232929 | ||||||
| chrX:68232929
|
C | CTT | 3 | a0001c0001t0003g0018a0001c0001t0003g0020a0001c0001t0007g0022 | 3 | HG02280.hp1 HG02809.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.486+1556_486+1557d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68232929 | ||||||
| chrX:68232929
|
CT | C | 1 | a0001c0001t0006g0120 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.486+1557delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68232929 | ||||||
| chrX:68232950
|
C | T | 4 | a0001c0001t0001g0027a0001c0001t0001g0041a0001c0001t0001g0092others(1): Show | 4 | NA18960.hp1 NA18994.hp1 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.486+1537G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68232950 | ||||||
| chrX:68233027
|
C | CA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+1459dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68233027 | ||||||
| chrX:68233048
|
T | TC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+1438dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68233048 | ||||||
| chrX:68233124
|
T | C | 130 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(127): Show | 130 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
intron_variant | MODIFIER | c.486+1363A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68233124 | ||||||
| chrX:68233236
|
G | GC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+1250dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68233236 | ||||||
| chrX:68233421
|
T | TA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+1065dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68233421 | ||||||
| chrX:68233715
|
T | TG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+771dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68233715 | ||||||
| chrX:68233786
|
T | TC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+700dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68233786 | ||||||
| chrX:68233862
|
T | TA | 1 | a0001c0001t0001g0048 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.486+624dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68233862 | ||||||
| chrX:68234062
|
C | CA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+424dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68234062 | ||||||
| chrX:68234091
|
C | CA | 90 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(87): Show | 90 | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(87): Show |
intron_variant | MODIFIER | c.486+395dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68234091 | ||||||
| chrX:68234091
|
C | CAA | 33 | a0001c0001t0001g0029a0001c0001t0001g0038a0001c0001t0001g0044others(30): Show | 33 | HG00099.hp2 HG00280.hp1 HG00621.hp1 others(30): Show |
intron_variant | MODIFIER | c.486+394_486+395dup others(2): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68234091 | ||||||
| chrX:68234091
|
C | CAAA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+393_486+395dup others(3): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68234091 | ||||||
| chrX:68234091
|
CA | C | 5 | a0001c0001t0002g0133a0001c0001t0004g0010a0001c0001t0004g0011others(2): Show | 5 | HG01891.hp1 HG02280.hp2 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.486+395delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68234091 | ||||||
| chrX:68234091
|
CAA | C | 4 | a0001c0001t0002g0125a0001c0001t0002g0127a0001c0001t0006g0013others(1): Show | 4 | HG01255.hp1 HG02630.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.486+394_486+395del others(2): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68234091 | ||||||
| chrX:68234132
|
GA | G | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+354delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68234132 | ||||||
| chrX:68234195
|
G | A | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.486+292C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68234195 | ||||||
| chrX:68234221
|
A | AG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+265dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68234221 | ||||||
| chrX:68234395
|
C | CG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+91dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68234395 | ||||||
| chrX:68234421
|
C | CA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+65dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68234421 | ||||||
| chrX:68234472
|
G | GC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.486+14dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 6/24 | chrX | 68234472 | ||||||
| chrX:68234823
|
G | GA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-236dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68234823 | ||||||
| chrX:68235028
|
A | G | 82 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(79): Show | 82 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.385-440T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68235028 | ||||||
| chrX:68235053
|
T | TG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-466dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68235053 | ||||||
| chrX:68235118
|
T | C | 2 | a0001c0001t0002g0125a0001c0001t0002g0127 | 2 | HG01255.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.385-530A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68235118 | ||||||
| chrX:68235129
|
GA | G | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.385-542delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68235129 | ||||||
| chrX:68235571
|
C | CT | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-984dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68235571 | ||||||
| chrX:68235662
|
A | AC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-1075dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68235662 | ||||||
| chrX:68235675
|
T | C | 4 | a0001c0001t0004g0010a0001c0001t0004g0011a0001c0001t0004g0012others(1): Show | 4 | HG02280.hp2 HG02451.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.385-1087A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68235675 | ||||||
| chrX:68235683
|
C | CA | 7 | a0001c0001t0001g0015a0001c0001t0001g0029a0001c0001t0001g0075others(4): Show | 7 | HG02809.hp2 NA18962.hp1 NA18977.hp1 others(4): Show |
intron_variant | MODIFIER | c.385-1096dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68235683 | ||||||
| chrX:68235683
|
CA | C | 4 | a0001c0001t0001g0069a0001c0001t0001g0141a0001c0001t0002g0125others(1): Show | 4 | HG00140.hp1 HG01074.hp1 HG01255.hp1 others(1): Show |
intron_variant | MODIFIER | c.385-1096delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68235683 | ||||||
| chrX:68235716
|
G | GCT | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-1129_385-1128i others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68235716 | ||||||
| chrX:68235718
|
CT | C | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-1131delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68235718 | ||||||
| chrX:68235729
|
A | AG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-1142_385-1141i others(3): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68235729 | ||||||
| chrX:68235754
|
A | AG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-1167dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68235754 | ||||||
| chrX:68235848
|
A | AC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-1261dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68235848 | ||||||
| chrX:68235861
|
C | T | 6 | a0001c0001t0001g0098a0001c0001t0004g0030a0001c0001t0004g0034others(3): Show | 6 | HG01081.hp2 HG02055.hp1 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.385-1273G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68235861 | ||||||
| chrX:68235891
|
T | C | 1 | a0001c0001t0001g0088 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.385-1303A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68235891 | ||||||
| chrX:68235902
|
A | AT | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-1315dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68235902 | ||||||
| chrX:68235933
|
AG | A | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.385-1346delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68235933 | ||||||
| chrX:68235967
|
A | AG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-1380dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68235967 | ||||||
| chrX:68236223
|
A | T | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-1635T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68236223 | ||||||
| chrX:68236350
|
T | C | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.385-1762A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68236350 | ||||||
| chrX:68236545
|
T | TC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-1958dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68236545 | ||||||
| chrX:68236803
|
T | TG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-2216_385-2215i others(3): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68236803 | ||||||
| chrX:68236903
|
T | TG | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-2316dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68236903 | ||||||
| chrX:68236957
|
T | TC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-2370dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68236957 | ||||||
| chrX:68237037
|
G | GT | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-2450dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68237037 | ||||||
| chrX:68237048
|
C | T | 8 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(5): Show | 8 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(5): Show |
intron_variant | MODIFIER | c.385-2460G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68237048 | ||||||
| chrX:68237103
|
A | AC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-2516dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68237103 | ||||||
| chrX:68237640
|
CATT | C | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.385-3055_385-3053d others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68237640 | ||||||
| chrX:68238264
|
T | C | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.385-3676A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68238264 | ||||||
| chrX:68238408
|
C | CT | 1 | a0001c0001t0002g0127 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.385-3821dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68238408 | ||||||
| chrX:68238409
|
T | C | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.385-3821A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68238409 | ||||||
| chrX:68238714
|
G | T | 1 | a0001c0001t0001g0069 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.385-4126C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68238714 | ||||||
| chrX:68238808
|
A | AC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-4221dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68238808 | ||||||
| chrX:68239190
|
G | T | 32 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(29): Show | 32 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(29): Show |
intron_variant | MODIFIER | c.385-4602C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68239190 | ||||||
| chrX:68239211
|
A | ACTGCTGG others(23): Show |
129 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(126): Show | 129 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(126): Show |
intron_variant | MODIFIER | c.385-4624_385-4623i others(32): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68239211 | ||||||
| chrX:68239214
|
GCTGGTGT others(14): Show |
G | 1 | a0001c0001t0002g0133 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.385-4647_385-4627d others(23): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68239214 | ||||||
| chrX:68239227
|
G | A | 1 | a0001c0001t0001g0015 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.385-4639C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68239227 | ||||||
| chrX:68239298
|
C | T | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.385-4710G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68239298 | ||||||
| chrX:68239575
|
G | A | 114 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(111): Show | 114 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(111): Show |
intron_variant | MODIFIER | c.385-4987C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68239575 | ||||||
| chrX:68239586
|
G | A | 1 | a0001c0001t0004g0034 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.385-4998C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68239586 | ||||||
| chrX:68239816
|
AT | A | 33 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(30): Show | 33 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(30): Show |
intron_variant | MODIFIER | c.385-5229delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68239816 | ||||||
| chrX:68239816
|
ATT | A | 81 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(78): Show | 81 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(78): Show |
intron_variant | MODIFIER | c.385-5230_385-5229d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68239816 | ||||||
| chrX:68240065
|
C | T | 2 | a0001c0001t0002g0125a0001c0001t0002g0127 | 2 | HG01255.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.385-5477G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68240065 | ||||||
| chrX:68240451
|
C | T | 1 | a0001c0001t0001g0016 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.385-5863G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68240451 | ||||||
| chrX:68240658
|
T | C | 2 | a0001c0001t0001g0147a0001c0001t0003g0100 | 2 | HG01106.hp1 HG01934.hp1 |
intron_variant | MODIFIER | c.385-6070A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68240658 | ||||||
| chrX:68240681
|
T | C | 3 | a0001c0001t0001g0052a0001c0001t0001g0149a0001c0001t0002g0123 | 3 | HG02027.hp1 HG02135.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.385-6093A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68240681 | ||||||
| chrX:68240682
|
G | A | 1 | a0001c0001t0002g0123 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.385-6094C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68240682 | ||||||
| chrX:68240899
|
C | T | 13 | a0001c0001t0002g0115a0001c0001t0002g0133a0001c0001t0003g0101others(10): Show | 13 | HG01243.hp1 HG01891.hp1 HG02109.hp1 others(10): Show |
intron_variant | MODIFIER | c.385-6311G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68240899 | ||||||
| chrX:68240966
|
T | A | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.385-6378A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68240966 | ||||||
| chrX:68241111
|
G | A | 23 | a0001c0001t0002g0115a0001c0001t0002g0125a0001c0001t0002g0127others(20): Show | 23 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(20): Show |
intron_variant | MODIFIER | c.385-6523C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68241111 | ||||||
| chrX:68241228
|
T | C | 1 | a0001c0001t0002g0134 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.385-6640A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68241228 | ||||||
| chrX:68241249
|
C | T | 1 | a0001c0001t0001g0044 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.385-6661G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68241249 | ||||||
| chrX:68241470
|
T | G | 5 | a0001c0001t0003g0101a0001c0001t0004g0010a0001c0001t0004g0011others(2): Show | 5 | HG02280.hp2 HG02451.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.385-6882A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68241470 | ||||||
| chrX:68241564
|
C | T | 1 | a0001c0001t0003g0091 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.385-6976G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68241564 | ||||||
| chrX:68241676
|
T | A | 82 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(79): Show | 82 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.385-7088A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68241676 | ||||||
| chrX:68241877
|
C | T | 3 | a0001c0001t0001g0038a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02602.hp1 HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.385-7289G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68241877 | ||||||
| chrX:68241917
|
A | G | 82 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(79): Show | 82 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.385-7329T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68241917 | ||||||
| chrX:68241957
|
G | A | 1 | a0001c0001t0001g0147 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.385-7369C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68241957 | ||||||
| chrX:68242044
|
A | C | 1 | a0001c0001t0002g0047 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.385-7456T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68242044 | ||||||
| chrX:68242077
|
T | C | 82 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(79): Show | 82 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.385-7489A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68242077 | ||||||
| chrX:68242214
|
C | CA | 25 | a0001c0001t0001g0016a0001c0001t0001g0041a0001c0001t0001g0053others(22): Show | 25 | HG00099.hp2 HG01256.hp1 HG01358.hp1 others(22): Show |
intron_variant | MODIFIER | c.385-7627dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68242214 | ||||||
| chrX:68242214
|
C | CAA | 7 | a0001c0001t0001g0140a0001c0001t0002g0116a0001c0001t0002g0133others(4): Show | 7 | HG01891.hp1 HG01891.hp2 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.385-7628_385-7627d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68242214 | ||||||
| chrX:68242214
|
C | CAAA | 2 | a0001c0001t0005g0152a0001c0001t0019g0003 | 2 | HG02630.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.385-7629_385-7627d others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68242214 | ||||||
| chrX:68242214
|
CA | C | 3 | a0001c0001t0001g0082a0001c0001t0001g0145a0004c0005t0012g0024 | 3 | HG01169.hp2 HG03710.hp1 NA18944.hp1 |
intron_variant | MODIFIER | c.385-7627delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68242214 | ||||||
| chrX:68242246
|
A | G | 2 | a0001c0001t0007g0023a0001c0001t0007g0033 | 2 | HG02559.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.385-7658T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68242246 | ||||||
| chrX:68242447
|
T | C | 1 | a0001c0001t0001g0070 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.385-7859A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68242447 | ||||||
| chrX:68242874
|
CT | C | 21 | a0001c0001t0002g0115a0001c0001t0002g0133a0001c0001t0003g0101others(18): Show | 21 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
intron_variant | MODIFIER | c.385-8287delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68242874 | ||||||
| chrX:68242914
|
C | G | 2 | a0001c0001t0002g0125a0001c0001t0002g0127 | 2 | HG01255.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.385-8326G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68242914 | ||||||
| chrX:68243057
|
G | A | 3 | a0001c0001t0004g0026a0001c0001t0006g0120a0001c0001t0006g0121 | 3 | HG01167.hp1 HG01169.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.385-8469C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68243057 | ||||||
| chrX:68243534
|
C | T | 3 | a0001c0001t0001g0008a0001c0001t0001g0079a0001c0001t0001g0090 | 3 | HG01346.hp1 HG01433.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.385-8946G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68243534 | ||||||
| chrX:68244162
|
A | G | 1 | a0001c0001t0006g0105 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.385-9574T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68244162 | ||||||
| chrX:68244445
|
A | C | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.385-9857T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68244445 | ||||||
| chrX:68244446
|
G | C | 1 | a0001c0001t0003g0035 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.385-9858C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68244446 | ||||||
| chrX:68245079
|
A | G | 34 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(31): Show | 34 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(31): Show |
intron_variant | MODIFIER | c.385-10491T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68245079 | ||||||
| chrX:68245467
|
C | T | 1 | a0001c0001t0005g0152 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.385-10879G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68245467 | ||||||
| chrX:68245519
|
T | C | 72 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(69): Show | 72 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(69): Show |
intron_variant | MODIFIER | c.385-10931A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68245519 | ||||||
| chrX:68245743
|
A | G | 1 | a0001c0001t0001g0070 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.385-11155T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68245743 | ||||||
| chrX:68245821
|
G | A | 3 | a0001c0001t0001g0009a0001c0001t0001g0040a0001c0001t0002g0047 | 3 | HG00673.hp1 NA18965.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.385-11233C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68245821 | ||||||
| chrX:68245940
|
A | G | 1 | a0001c0001t0001g0145 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.385-11352T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68245940 | ||||||
| chrX:68246104
|
C | T | 23 | a0001c0001t0002g0115a0001c0001t0002g0125a0001c0001t0002g0127others(20): Show | 23 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(20): Show |
intron_variant | MODIFIER | c.385-11516G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68246104 | ||||||
| chrX:68246158
|
T | A | 3 | a0001c0001t0004g0004a0001c0001t0006g0013a0001c0001t0007g0032 | 3 | HG02109.hp1 HG02630.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.385-11570A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68246158 | ||||||
| chrX:68246205
|
C | G | 2 | a0001c0001t0001g0075a0001c0001t0002g0057 | 2 | NA18977.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.385-11617G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68246205 | ||||||
| chrX:68246205
|
C | T | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.385-11617G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68246205 | ||||||
| chrX:68246488
|
G | C | 1 | a0001c0001t0023g0037 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.385-11900C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68246488 | ||||||
| chrX:68246568
|
G | A | 3 | a0001c0001t0001g0041a0001c0001t0001g0092a0001c0001t0024g0007 | 3 | NA18960.hp1 NA19000.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.385-11980C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68246568 | ||||||
| chrX:68246627
|
T | C | 1 | a0001c0001t0003g0035 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.385-12039A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68246627 | ||||||
| chrX:68246671
|
G | A | 1 | a0001c0001t0001g0028 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.385-12083C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68246671 | ||||||
| chrX:68246748
|
A | G | 72 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(69): Show | 72 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(69): Show |
intron_variant | MODIFIER | c.385-12160T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68246748 | ||||||
| chrX:68246841
|
C | A | 30 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(27): Show | 30 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(27): Show |
intron_variant | MODIFIER | c.385-12253G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68246841 | ||||||
| chrX:68247041
|
C | T | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.385-12453G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68247041 | ||||||
| chrX:68247132
|
G | A | 72 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(69): Show | 72 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(69): Show |
intron_variant | MODIFIER | c.385-12544C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68247132 | ||||||
| chrX:68247250
|
T | C | 2 | a0001c0001t0001g0046a0004c0005t0012g0024 | 2 | HG01169.hp2 HG01928.hp1 |
intron_variant | MODIFIER | c.385-12662A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68247250 | ||||||
| chrX:68247324
|
G | A | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.385-12736C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68247324 | ||||||
| chrX:68247689
|
C | T | 2 | a0001c0001t0005g0152a0001c0001t0019g0003 | 2 | HG02630.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.385-13101G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68247689 | ||||||
| chrX:68247709
|
A | G | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.385-13121T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68247709 | ||||||
| chrX:68247755
|
C | CA | 9 | a0001c0001t0001g0043a0001c0001t0001g0053a0001c0001t0001g0073others(6): Show | 9 | HG00735.hp2 HG01192.hp1 HG03225.hp1 others(6): Show |
intron_variant | MODIFIER | c.385-13168dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68247755 | ||||||
| chrX:68247755
|
CA | C | 23 | a0001c0001t0002g0115a0001c0001t0002g0125a0001c0001t0002g0127others(20): Show | 23 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(20): Show |
intron_variant | MODIFIER | c.385-13168delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68247755 | ||||||
| chrX:68247769
|
A | C | 13 | a0001c0001t0001g0071a0001c0001t0002g0115a0001c0001t0002g0133others(10): Show | 13 | HG00642.hp1 HG01243.hp1 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.385-13181T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68247769 | ||||||
| chrX:68247809
|
A | G | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.385-13221T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68247809 | ||||||
| chrX:68247878
|
C | T | 1 | a0001c0001t0001g0146 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.385-13290G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68247878 | ||||||
| chrX:68248017
|
C | A | 1 | a0001c0001t0002g0021 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.385-13429G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68248017 | ||||||
| chrX:68248135
|
C | A | 23 | a0001c0001t0002g0115a0001c0001t0002g0125a0001c0001t0002g0127others(20): Show | 23 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(20): Show |
intron_variant | MODIFIER | c.385-13547G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68248135 | ||||||
| chrX:68248300
|
C | CA | 40 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(37): Show | 40 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(37): Show |
intron_variant | MODIFIER | c.385-13713dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68248300 | ||||||
| chrX:68248300
|
C | CAA | 17 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(14): Show | 17 | HG01891.hp2 HG02486.hp1 HG02559.hp1 others(14): Show |
intron_variant | MODIFIER | c.385-13714_385-1371 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68248300 | ||||||
| chrX:68248424
|
C | T | 1 | a0001c0001t0001g0088 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.385-13836G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68248424 | ||||||
| chrX:68248497
|
T | C | 9 | a0001c0001t0004g0004a0001c0001t0004g0026a0001c0001t0004g0030others(6): Show | 9 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(6): Show |
intron_variant | MODIFIER | c.385-13909A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68248497 | ||||||
| chrX:68249609
|
T | C | 72 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(69): Show | 72 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(69): Show |
intron_variant | MODIFIER | c.385-15021A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68249609 | ||||||
| chrX:68249961
|
C | A | 72 | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0071others(69): Show | 72 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(69): Show |
intron_variant | MODIFIER | c.385-15373G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68249961 | ||||||
| chrX:68250485
|
C | G | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.385-15897G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68250485 | ||||||
| chrX:68250510
|
G | T | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.385-15922C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68250510 | ||||||
| chrX:68250865
|
T | G | 20 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(17): Show | 20 | HG00738.hp1 HG01891.hp2 HG02109.hp1 others(17): Show |
intron_variant | MODIFIER | c.385-16277A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68250865 | ||||||
| chrX:68250957
|
C | A | 4 | a0001c0001t0003g0122a0001c0001t0004g0004a0001c0001t0006g0105others(1): Show | 4 | HG02109.hp1 HG02647.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.385-16369G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68250957 | ||||||
| chrX:68251178
|
ATGT | A | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.385-16593_385-1659 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68251178 | ||||||
| chrX:68251180
|
G | GT | 12 | a0001c0001t0001g0088a0001c0001t0001g0097a0001c0001t0001g0140others(9): Show | 12 | HG01106.hp1 HG02056.hp1 HG02109.hp1 others(9): Show |
intron_variant | MODIFIER | c.385-16593dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68251180 | ||||||
| chrX:68251180
|
GT | G | 8 | a0001c0001t0001g0016a0001c0001t0001g0062a0001c0001t0001g0080others(5): Show | 8 | HG01256.hp1 HG02257.hp2 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.385-16593delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68251180 | ||||||
| chrX:68251180
|
GTT | G | 19 | a0001c0001t0002g0014a0001c0001t0002g0114a0001c0001t0002g0116others(16): Show | 19 | HG01243.hp1 HG01891.hp1 HG01891.hp2 others(16): Show |
intron_variant | MODIFIER | c.385-16594_385-1659 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68251180 | ||||||
| chrX:68251368
|
T | C | 3 | a0001c0001t0002g0021a0001c0001t0007g0023a0001c0001t0007g0033 | 3 | HG02257.hp2 HG02559.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.385-16780A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68251368 | ||||||
| chrX:68251379
|
T | C | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.385-16791A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68251379 | ||||||
| chrX:68251454
|
G | A | 1 | a0001c0001t0002g0057 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.385-16866C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68251454 | ||||||
| chrX:68251554
|
G | C | 5 | a0001c0001t0003g0101a0001c0001t0004g0010a0001c0001t0004g0011others(2): Show | 5 | HG02280.hp2 HG02451.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.385-16966C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68251554 | ||||||
| chrX:68251764
|
TC | T | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-17177delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68251764 | ||||||
| chrX:68252019
|
T | C | 1 | a0001c0001t0003g0113 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.385-17431A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68252019 | ||||||
| chrX:68252077
|
A | T | 1 | a0001c0001t0001g0071 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.385-17489T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68252077 | ||||||
| chrX:68252394
|
T | C | 6 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(3): Show | 6 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.385-17806A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68252394 | ||||||
| chrX:68252919
|
G | GT | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-18332dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68252919 | ||||||
| chrX:68252981
|
T | C | 2 | a0001c0001t0003g0113a0001c0001t0004g0005 | 2 | HG00735.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.385-18393A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68252981 | ||||||
| chrX:68252982
|
G | A | 3 | a0001c0001t0001g0062a0001c0001t0001g0088a0001c0001t0025g0087 | 3 | HG02056.hp1 NA18943.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.385-18394C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68252982 | ||||||
| chrX:68253052
|
TA | T | 5 | a0001c0001t0002g0133a0001c0001t0003g0113a0001c0001t0005g0152others(2): Show | 5 | HG01243.hp1 HG01891.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.385-18465delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68253052 | ||||||
| chrX:68253293
|
GA | G | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-18706delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68253293 | ||||||
| chrX:68253340
|
T | C | 5 | a0001c0001t0003g0122a0001c0001t0004g0004a0001c0001t0006g0105others(2): Show | 5 | HG00738.hp1 HG02109.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.385-18752A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68253340 | ||||||
| chrX:68253505
|
T | C | 1 | a0001c0001t0003g0109 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.385-18917A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68253505 | ||||||
| chrX:68253642
|
AT | A | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.385-19055delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68253642 | ||||||
| chrX:68253782
|
C | T | 3 | a0001c0001t0004g0004a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02109.hp1 HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.385-19194G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68253782 | ||||||
| chrX:68253809
|
T | C | 3 | a0001c0001t0004g0004a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02109.hp1 HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.385-19221A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68253809 | ||||||
| chrX:68253861
|
T | C | 1 | a0001c0001t0001g0066 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.385-19273A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68253861 | ||||||
| chrX:68254636
|
T | C | 2 | a0001c0001t0003g0076a0001c0001t0003g0100 | 2 | HG01106.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.385-20048A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68254636 | ||||||
| chrX:68254688
|
T | TC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.384+20049dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68254688 | ||||||
| chrX:68254915
|
G | T | 8 | a0001c0001t0002g0134a0001c0001t0003g0091a0001c0001t0003g0109others(5): Show | 8 | HG00099.hp2 HG02257.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.384+19823C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68254915 | ||||||
| chrX:68255017
|
G | GA | 8 | a0001c0001t0001g0048a0001c0001t0001g0075a0001c0001t0002g0057others(5): Show | 8 | HG00099.hp2 HG02257.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.384+19720dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68255017 | ||||||
| chrX:68255017
|
GA | G | 24 | a0001c0001t0001g0027a0001c0001t0001g0053a0001c0001t0002g0014others(21): Show | 24 | HG01243.hp1 HG01891.hp1 HG01891.hp2 others(21): Show |
intron_variant | MODIFIER | c.384+19720delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68255017 | ||||||
| chrX:68255017
|
GAA | G | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.384+19719_384+1972 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68255017 | ||||||
| chrX:68255223
|
T | C | 34 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0044others(31): Show | 34 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(31): Show |
intron_variant | MODIFIER | c.384+19515A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68255223 | ||||||
| chrX:68255359
|
C | CA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.384+19378dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68255359 | ||||||
| chrX:68255386
|
A | T | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.384+19352T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68255386 | ||||||
| chrX:68255724
|
TAC | T | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.384+19012_384+1901 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68255724 | ||||||
| chrX:68255740
|
A | AAC | 3 | a0001c0001t0004g0004a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02109.hp1 HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.384+18996_384+1899 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68255740 | ||||||
| chrX:68255740
|
AAC | A | 2 | a0001c0001t0006g0013a0001c0001t0007g0032 | 2 | HG02630.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.384+18996_384+1899 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68255740 | ||||||
| chrX:68255777
|
C | T | 5 | a0001c0001t0003g0122a0001c0001t0004g0004a0001c0001t0006g0105others(2): Show | 5 | HG00738.hp1 HG02109.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.384+18961G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68255777 | ||||||
| chrX:68256122
|
G | A | 1 | a0001c0001t0003g0081 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.384+18616C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68256122 | ||||||
| chrX:68256720
|
C | A | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.384+18018G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68256720 | ||||||
| chrX:68256817
|
A | C | 1 | a0001c0001t0016g0119 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.384+17921T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68256817 | ||||||
| chrX:68256857
|
C | T | 4 | a0001c0001t0003g0122a0001c0001t0004g0004a0001c0001t0006g0105others(1): Show | 4 | HG02109.hp1 HG02647.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.384+17881G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68256857 | ||||||
| chrX:68257041
|
T | TA | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.384+17696dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68257041 | ||||||
| chrX:68257041
|
TA | T | 2 | a0001c0001t0001g0053a0001c0001t0006g0013 | 2 | HG02630.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.384+17696delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68257041 | ||||||
| chrX:68257231
|
A | C | 1 | a0002c0002t0001g0002 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.384+17507T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68257231 | ||||||
| chrX:68257302
|
A | G | 1 | a0001c0001t0005g0138 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.384+17436T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68257302 | ||||||
| chrX:68257615
|
C | CA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.384+17122dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68257615 | ||||||
| chrX:68258306
|
A | T | 67 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0044others(64): Show | 67 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(64): Show |
intron_variant | MODIFIER | c.384+16432T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68258306 | ||||||
| chrX:68258310
|
C | A | 68 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0044others(65): Show | 68 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(65): Show |
intron_variant | MODIFIER | c.384+16428G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68258310 | ||||||
| chrX:68258393
|
T | TC | 2 | a0001c0001t0001g0071a0001c0001t0001g0147 | 2 | HG00642.hp1 HG01934.hp1 |
intron_variant | MODIFIER | c.384+16344dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68258393 | ||||||
| chrX:68258398
|
CCT | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.384+16338_384+1633 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68258398 | ||||||
| chrX:68258399
|
C | CCT | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.384+16338_384+1633 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68258399 | ||||||
| chrX:68258400
|
T | C | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.384+16338A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68258400 | ||||||
| chrX:68258400
|
T | TC | 6 | a0001c0001t0001g0053a0001c0001t0001g0070a0001c0001t0001g0088others(3): Show | 6 | HG01255.hp1 HG02056.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.384+16337dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68258400 | ||||||
| chrX:68258413
|
A | AACCCCCC | 62 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0044others(59): Show | 62 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(59): Show |
intron_variant | MODIFIER | c.384+16318_384+1632 others(11): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68258413 | ||||||
| chrX:68258726
|
C | T | 6 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(3): Show | 6 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.384+16012G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68258726 | ||||||
| chrX:68258853
|
C | A | 1 | a0001c0001t0009g0128 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.384+15885G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68258853 | ||||||
| chrX:68259045
|
A | G | 7 | a0001c0001t0002g0134a0001c0001t0003g0109a0001c0001t0003g0139others(4): Show | 7 | HG02257.hp1 HG02258.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.384+15693T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68259045 | ||||||
| chrX:68259251
|
G | C | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.384+15487C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68259251 | ||||||
| chrX:68259464
|
T | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.384+15274A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68259464 | ||||||
| chrX:68259479
|
T | A | 1 | a0001c0001t0003g0101 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.384+15259A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68259479 | ||||||
| chrX:68259549
|
T | C | 1 | a0001c0001t0022g0103 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.384+15189A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68259549 | ||||||
| chrX:68259999
|
C | T | 3 | a0001c0001t0004g0004a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02109.hp1 HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.384+14739G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68259999 | ||||||
| chrX:68260400
|
G | C | 5 | a0001c0001t0003g0122a0001c0001t0004g0004a0001c0001t0006g0105others(2): Show | 5 | HG00738.hp1 HG02109.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.384+14338C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68260400 | ||||||
| chrX:68260413
|
G | T | 2 | a0001c0001t0002g0014a0001c0001t0002g0108 | 2 | HG03098.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.384+14325C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68260413 | ||||||
| chrX:68260853
|
T | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.384+13885A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68260853 | ||||||
| chrX:68261282
|
C | G | 1 | a0001c0001t0004g0034 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.384+13456G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68261282 | ||||||
| chrX:68261320
|
T | C | 1 | a0001c0001t0001g0077 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.384+13418A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68261320 | ||||||
| chrX:68261420
|
A | T | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.384+13318T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68261420 | ||||||
| chrX:68261455
|
C | T | 6 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(3): Show | 6 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.384+13283G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68261455 | ||||||
| chrX:68261518
|
G | A | 3 | a0001c0001t0004g0004a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02109.hp1 HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.384+13220C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68261518 | ||||||
| chrX:68261566
|
T | C | 65 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0044others(62): Show | 65 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(62): Show |
intron_variant | MODIFIER | c.384+13172A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68261566 | ||||||
| chrX:68261835
|
CT | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.384+12902delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68261835 | ||||||
| chrX:68262119
|
G | C | 36 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0044others(33): Show | 36 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(33): Show |
intron_variant | MODIFIER | c.384+12619C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68262119 | ||||||
| chrX:68262259
|
G | C | 25 | a0001c0001t0002g0014a0001c0001t0002g0021a0001c0001t0002g0108others(22): Show | 25 | HG01891.hp1 HG01891.hp2 HG02145.hp1 others(22): Show |
intron_variant | MODIFIER | c.384+12479C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68262259 | ||||||
| chrX:68262405
|
G | C | 1 | a0001c0001t0002g0133 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.384+12333C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68262405 | ||||||
| chrX:68262705
|
T | C | 1 | a0001c0001t0013g0042 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.384+12033A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68262705 | ||||||
| chrX:68262718
|
C | T | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.384+12020G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68262718 | ||||||
| chrX:68262728
|
G | A | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.384+12010C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68262728 | ||||||
| chrX:68262821
|
A | AGAAAG | 5 | a0001c0001t0001g0017a0001c0001t0001g0050a0001c0001t0001g0070others(2): Show | 5 | HG00609.hp1 NA18971.hp1 NA19005.hp1 others(2): Show |
intron_variant | MODIFIER | c.384+11912_384+1191 others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68262821 | ||||||
| chrX:68262829
|
A | AAGGAC | 95 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(92): Show | 95 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(92): Show |
intron_variant | MODIFIER | c.384+11904_384+1190 others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68262829 | ||||||
| chrX:68262829
|
A | AAGGACAG others(3): Show |
3 | a0001c0001t0002g0057a0001c0001t0003g0081a0001c0001t0022g0103 | 3 | HG01081.hp1 HG03492.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.384+11899_384+1190 others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68262829 | ||||||
| chrX:68262829
|
AAGGAC | A | 5 | a0001c0001t0003g0151a0001c0001t0004g0094a0001c0001t0004g0095others(2): Show | 5 | HG03130.hp1 HG03209.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.384+11904_384+1190 others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68262829 | ||||||
| chrX:68263229
|
G | A | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.384+11509C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68263229 | ||||||
| chrX:68263469
|
C | A | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.384+11269G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68263469 | ||||||
| chrX:68263655
|
C | A | 4 | a0001c0001t0003g0122a0001c0001t0004g0004a0001c0001t0006g0105others(1): Show | 4 | HG02109.hp1 HG02647.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.384+11083G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68263655 | ||||||
| chrX:68263803
|
G | A | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.384+10935C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68263803 | ||||||
| chrX:68264048
|
C | G | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.384+10690G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68264048 | ||||||
| chrX:68264136
|
C | T | 1 | a0001c0001t0003g0091 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.384+10602G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68264136 | ||||||
| chrX:68264241
|
A | C | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.384+10497T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68264241 | ||||||
| chrX:68264256
|
G | A | 1 | a0001c0001t0001g0154 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.384+10482C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68264256 | ||||||
| chrX:68264527
|
T | C | 1 | a0001c0001t0018g0104 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.384+10211A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68264527 | ||||||
| chrX:68264549
|
A | G | 63 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0044others(60): Show | 63 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(60): Show |
intron_variant | MODIFIER | c.384+10189T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68264549 | ||||||
| chrX:68264648
|
T | A | 2 | a0001c0001t0002g0133a0001c0001t0005g0152 | 2 | HG01891.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.384+10090A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68264648 | ||||||
| chrX:68264679
|
T | C | 1 | a0001c0001t0004g0012 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.384+10059A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68264679 | ||||||
| chrX:68264727
|
G | C | 3 | a0001c0001t0003g0151a0001c0001t0004g0094a0001c0001t0004g0095 | 3 | HG03209.hp1 HG03516.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.384+10011C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68264727 | ||||||
| chrX:68264736
|
T | G | 3 | a0001c0001t0004g0004a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02109.hp1 HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.384+10002A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68264736 | ||||||
| chrX:68264827
|
C | A | 3 | a0001c0001t0002g0116a0001c0001t0005g0110a0001c0001t0008g0112 | 3 | HG02818.hp2 HG03540.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.384+9911G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68264827 | ||||||
| chrX:68264954
|
C | G | 1 | a0001c0001t0005g0110 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.384+9784G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68264954 | ||||||
| chrX:68265104
|
C | A | 1 | a0001c0001t0001g0077 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.384+9634G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68265104 | ||||||
| chrX:68265223
|
A | G | 36 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0044others(33): Show | 36 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(33): Show |
intron_variant | MODIFIER | c.384+9515T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68265223 | ||||||
| chrX:68265310
|
A | G | 5 | a0001c0001t0003g0122a0001c0001t0004g0004a0001c0001t0006g0105others(2): Show | 5 | HG00738.hp1 HG02109.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.384+9428T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68265310 | ||||||
| chrX:68265402
|
G | A | 6 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(3): Show | 6 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.384+9336C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68265402 | ||||||
| chrX:68265796
|
T | C | 1 | a0001c0001t0002g0134 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.384+8942A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68265796 | ||||||
| chrX:68266046
|
G | A | 1 | a0001c0001t0023g0037 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.384+8692C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68266046 | ||||||
| chrX:68266285
|
C | T | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.384+8453G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68266285 | ||||||
| chrX:68266328
|
G | A | 1 | a0001c0001t0007g0022 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.384+8410C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68266328 | ||||||
| chrX:68266397
|
C | A | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.384+8341G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68266397 | ||||||
| chrX:68266552
|
C | T | 1 | a0001c0001t0002g0019 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.384+8186G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68266552 | ||||||
| chrX:68266648
|
G | A | 2 | a0001c0001t0001g0068a0001c0001t0001g0073 | 2 | NA19066.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.384+8090C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68266648 | ||||||
| chrX:68266701
|
C | A | 1 | a0001c0001t0004g0010 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.384+8037G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68266701 | ||||||
| chrX:68266833
|
A | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.384+7905T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68266833 | ||||||
| chrX:68266942
|
T | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.384+7796A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68266942 | ||||||
| chrX:68266945
|
T | C | 3 | a0001c0001t0004g0004a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02109.hp1 HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.384+7793A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68266945 | ||||||
| chrX:68267201
|
C | T | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.384+7537G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68267201 | ||||||
| chrX:68267207
|
C | T | 3 | a0001c0001t0004g0004a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02109.hp1 HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.384+7531G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68267207 | ||||||
| chrX:68267326
|
A | G | 11 | a0001c0001t0003g0122a0001c0001t0004g0004a0001c0001t0004g0026others(8): Show | 11 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(8): Show |
intron_variant | MODIFIER | c.384+7412T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68267326 | ||||||
| chrX:68267542
|
A | G | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.384+7196T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68267542 | ||||||
| chrX:68267676
|
G | T | 4 | a0001c0001t0003g0122a0001c0001t0004g0004a0001c0001t0006g0105others(1): Show | 4 | HG02109.hp1 HG02647.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.384+7062C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68267676 | ||||||
| chrX:68267702
|
C | T | 4 | a0001c0001t0001g0052a0001c0001t0002g0123a0001c0001t0002g0124others(1): Show | 4 | HG02027.hp1 HG02132.hp1 HG02135.hp1 others(1): Show |
intron_variant | MODIFIER | c.384+7036G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68267702 | ||||||
| chrX:68267760
|
A | G | 1 | a0001c0001t0001g0060 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.384+6978T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68267760 | ||||||
| chrX:68267768
|
A | G | 36 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0044others(33): Show | 36 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(33): Show |
intron_variant | MODIFIER | c.384+6970T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68267768 | ||||||
| chrX:68267942
|
G | A | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.384+6796C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68267942 | ||||||
| chrX:68267954
|
G | A | 1 | a0001c0001t0002g0135 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.384+6784C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68267954 | ||||||
| chrX:68267992
|
T | G | 3 | a0001c0001t0004g0004a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02109.hp1 HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.384+6746A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68267992 | ||||||
| chrX:68268204
|
C | A | 1 | a0001c0001t0001g0140 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.384+6534G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68268204 | ||||||
| chrX:68268473
|
G | A | 5 | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0051others(2): Show | 5 | HG00621.hp1 HG02738.hp1 NA18945.hp1 others(2): Show |
intron_variant | MODIFIER | c.384+6265C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68268473 | ||||||
| chrX:68268559
|
C | G | 3 | a0001c0001t0002g0115a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02145.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.384+6179G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68268559 | ||||||
| chrX:68268626
|
A | C | 5 | a0001c0001t0003g0122a0001c0001t0004g0004a0001c0001t0006g0105others(2): Show | 5 | HG00738.hp1 HG02109.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.384+6112T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68268626 | ||||||
| chrX:68268677
|
G | C | 1 | a0001c0001t0005g0107 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.384+6061C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68268677 | ||||||
| chrX:68268842
|
G | A | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.384+5896C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68268842 | ||||||
| chrX:68269177
|
G | C | 3 | a0001c0001t0004g0004a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02109.hp1 HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.384+5561C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68269177 | ||||||
| chrX:68269270
|
A | T | 5 | a0001c0001t0003g0101a0001c0001t0004g0010a0001c0001t0004g0011others(2): Show | 5 | HG02280.hp2 HG02451.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.384+5468T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68269270 | ||||||
| chrX:68269274
|
C | T | 6 | a0001c0001t0001g0145a0001c0001t0003g0101a0001c0001t0004g0010others(3): Show | 6 | HG02280.hp2 HG02451.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.384+5464G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68269274 | ||||||
| chrX:68269490
|
C | G | 3 | a0001c0001t0002g0021a0001c0001t0007g0023a0001c0001t0007g0033 | 3 | HG02257.hp2 HG02559.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.384+5248G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68269490 | ||||||
| chrX:68269573
|
A | T | 1 | a0001c0001t0002g0127 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.384+5165T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68269573 | ||||||
| chrX:68269583
|
T | G | 1 | a0001c0001t0002g0127 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.384+5155A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68269583 | ||||||
| chrX:68269762
|
G | T | 2 | a0001c0001t0002g0116a0001c0001t0008g0112 | 2 | HG02818.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.384+4976C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68269762 | ||||||
| chrX:68269996
|
C | T | 1 | a0001c0001t0001g0071 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.384+4742G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68269996 | ||||||
| chrX:68270217
|
C | G | 27 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(24): Show | 27 | HG00738.hp1 HG01891.hp1 HG01891.hp2 others(24): Show |
intron_variant | MODIFIER | c.384+4521G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68270217 | ||||||
| chrX:68270404
|
T | C | 3 | a0001c0001t0002g0115a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02145.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.384+4334A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68270404 | ||||||
| chrX:68270590
|
G | C | 22 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(19): Show | 22 | HG01891.hp1 HG01891.hp2 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.384+4148C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68270590 | ||||||
| chrX:68270601
|
A | AG | 1 | a0001c0001t0001g0038 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.384+4136dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68270601 | ||||||
| chrX:68270607
|
G | A | 3 | a0001c0001t0002g0021a0001c0001t0007g0023a0001c0001t0007g0033 | 3 | HG02257.hp2 HG02559.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.384+4131C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68270607 | ||||||
| chrX:68270745
|
T | TA | 7 | a0001c0001t0002g0134a0001c0001t0003g0091a0001c0001t0003g0109others(4): Show | 7 | HG00099.hp2 HG02258.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.384+3992dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68270745 | ||||||
| chrX:68270891
|
T | A | 5 | a0001c0001t0003g0122a0001c0001t0004g0004a0001c0001t0006g0105others(2): Show | 5 | HG00738.hp1 HG02109.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.384+3847A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68270891 | ||||||
| chrX:68271062
|
A | T | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.384+3676T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68271062 | ||||||
| chrX:68271089
|
T | C | 1 | a0001c0001t0001g0040 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.384+3649A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68271089 | ||||||
| chrX:68271371
|
C | CA | 5 | a0001c0001t0002g0115a0001c0001t0003g0122a0001c0001t0008g0096others(2): Show | 5 | HG01952.hp1 HG02145.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.384+3366dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68271371 | ||||||
| chrX:68271371
|
CA | C | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.384+3366delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68271371 | ||||||
| chrX:68271563
|
T | A | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.384+3175A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68271563 | ||||||
| chrX:68271571
|
T | A | 74 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0044others(71): Show | 74 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(71): Show |
intron_variant | MODIFIER | c.384+3167A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68271571 | ||||||
| chrX:68271727
|
G | A | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(21): Show |
intron_variant | MODIFIER | c.384+3011C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68271727 | ||||||
| chrX:68271945
|
CA | C | 154 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(151): Show | 154 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
intron_variant | MODIFIER | c.384+2792delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68271945 | ||||||
| chrX:68271971
|
A | C | 154 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(151): Show | 154 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
intron_variant | MODIFIER | c.384+2767T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68271971 | ||||||
| chrX:68271988
|
A | G | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.384+2750T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68271988 | ||||||
| chrX:68272005
|
CT | C | 154 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(151): Show | 154 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
intron_variant | MODIFIER | c.384+2732delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68272005 | ||||||
| chrX:68272020
|
T | TC | 154 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(151): Show | 154 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
intron_variant | MODIFIER | c.384+2717dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68272020 | ||||||
| chrX:68272131
|
G | A | 1 | a0001c0001t0001g0062 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.384+2607C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68272131 | ||||||
| chrX:68272864
|
A | G | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.384+1874T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68272864 | ||||||
| chrX:68273199
|
T | TA | 1 | a0001c0001t0001g0075 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.384+1538dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68273199 | ||||||
| chrX:68273578
|
T | C | 4 | a0001c0001t0002g0115a0001c0001t0004g0004a0001c0001t0008g0096others(1): Show | 4 | HG02109.hp1 HG02145.hp1 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.384+1160A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68273578 | ||||||
| chrX:68273684
|
T | C | 17 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(14): Show | 17 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(14): Show |
intron_variant | MODIFIER | c.384+1054A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68273684 | ||||||
| chrX:68273870
|
T | A | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.384+868A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68273870 | ||||||
| chrX:68273968
|
C | T | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.384+770G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68273968 | ||||||
| chrX:68274465
|
T | C | 1 | a0001c0001t0001g0009 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.384+273A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 5/24 | chrX | 68274465 | ||||||
| chrX:68275189
|
G | A | 1 | a0001c0001t0022g0103 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.313-380C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68275189 | ||||||
| chrX:68275612
|
T | C | 1 | a0001c0001t0016g0119 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.313-803A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68275612 | ||||||
| chrX:68275615
|
A | G | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.313-806T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68275615 | ||||||
| chrX:68276160
|
C | T | 2 | a0001c0001t0001g0009a0001c0001t0003g0091 | 2 | HG00099.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.313-1351G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68276160 | ||||||
| chrX:68276482
|
C | CA | 1 | a0001c0001t0001g0039 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.313-1674dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68276482 | ||||||
| chrX:68276605
|
A | T | 3 | a0001c0001t0002g0133a0001c0001t0005g0152a0001c0001t0007g0022 | 3 | HG01891.hp1 HG02630.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.313-1796T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68276605 | ||||||
| chrX:68276628
|
C | T | 3 | a0001c0001t0002g0021a0001c0001t0007g0023a0001c0001t0007g0033 | 3 | HG02257.hp2 HG02559.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.313-1819G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68276628 | ||||||
| chrX:68276646
|
C | T | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.313-1837G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68276646 | ||||||
| chrX:68277031
|
C | T | 1 | a0001c0001t0003g0101 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.313-2222G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68277031 | ||||||
| chrX:68277039
|
T | C | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.313-2230A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68277039 | ||||||
| chrX:68277787
|
T | C | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.313-2978A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68277787 | ||||||
| chrX:68278081
|
C | G | 4 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106others(1): Show | 4 | HG00738.hp1 HG02647.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.313-3272G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68278081 | ||||||
| chrX:68278122
|
T | G | 3 | a0001c0001t0003g0151a0001c0001t0004g0094a0001c0001t0004g0095 | 3 | HG03209.hp1 HG03516.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.313-3313A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68278122 | ||||||
| chrX:68278248
|
C | A | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.313-3439G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68278248 | ||||||
| chrX:68278283
|
C | T | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.313-3474G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68278283 | ||||||
| chrX:68278374
|
T | C | 4 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106others(1): Show | 4 | HG00738.hp1 HG02647.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.313-3565A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68278374 | ||||||
| chrX:68278697
|
C | T | 1 | a0001c0001t0005g0137 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.313-3888G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68278697 | ||||||
| chrX:68278835
|
G | A | 1 | a0001c0001t0001g0028 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.313-4026C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68278835 | ||||||
| chrX:68278902
|
A | T | 1 | a0001c0001t0002g0047 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.313-4093T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68278902 | ||||||
| chrX:68278905
|
A | T | 1 | a0001c0001t0001g0071 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.313-4096T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68278905 | ||||||
| chrX:68278915
|
A | T | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.313-4106T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68278915 | ||||||
| chrX:68278977
|
G | A | 6 | a0001c0001t0002g0021a0001c0001t0002g0133a0001c0001t0005g0152others(3): Show | 6 | HG01891.hp1 HG02257.hp2 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.312+4079C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68278977 | ||||||
| chrX:68279004
|
C | A | 1 | a0001c0001t0001g0066 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.312+4052G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68279004 | ||||||
| chrX:68279064
|
A | C | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.312+3992T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68279064 | ||||||
| chrX:68279097
|
C | A | 1 | a0001c0001t0011g0061 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.312+3959G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68279097 | ||||||
| chrX:68279101
|
C | CT | 60 | a0001c0001t0001g0009a0001c0001t0001g0016a0001c0001t0001g0017others(57): Show | 60 | HG00099.hp1 HG00609.hp1 HG00735.hp1 others(57): Show |
intron_variant | MODIFIER | c.312+3954dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68279101 | ||||||
| chrX:68279101
|
C | CTT | 24 | a0001c0001t0001g0015a0001c0001t0001g0025a0001c0001t0001g0045others(21): Show | 24 | HG00140.hp1 HG00280.hp1 HG00673.hp1 others(21): Show |
intron_variant | MODIFIER | c.312+3953_312+3954d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68279101 | ||||||
| chrX:68279101
|
C | CTTT | 16 | a0001c0001t0001g0041a0001c0001t0001g0051a0001c0001t0001g0052others(13): Show | 16 | HG00621.hp1 HG01346.hp2 HG01952.hp1 others(13): Show |
intron_variant | MODIFIER | c.312+3952_312+3954d others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68279101 | ||||||
| chrX:68279101
|
C | CTTTT | 6 | a0001c0001t0001g0027a0001c0001t0001g0048a0001c0001t0001g0067others(3): Show | 6 | HG02027.hp1 HG02738.hp1 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.312+3951_312+3954d others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68279101 | ||||||
| chrX:68279101
|
C | CTTTTT | 2 | a0001c0001t0007g0022a0001c0001t0008g0096 | 2 | HG02257.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.312+3950_312+3954d others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68279101 | ||||||
| chrX:68279101
|
C | CTTTTTT | 2 | a0001c0001t0001g0149a0001c0001t0002g0133 | 2 | HG01891.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.312+3949_312+3954d others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68279101 | ||||||
| chrX:68279101
|
CT | C | 12 | a0001c0001t0001g0143a0001c0001t0002g0019a0001c0001t0002g0125others(9): Show | 12 | HG00099.hp2 HG00735.hp2 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.312+3954delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68279101 | ||||||
| chrX:68279101
|
CTT | C | 3 | a0001c0001t0003g0018a0001c0001t0003g0101a0001c0001t0003g0113 | 3 | HG02280.hp1 HG02723.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.312+3953_312+3954d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68279101 | ||||||
| chrX:68279101
|
CTTTTTTT others(11): Show |
C | 4 | a0001c0001t0001g0071a0001c0001t0003g0122a0001c0001t0006g0105others(1): Show | 4 | HG00642.hp1 HG02647.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.312+3937_312+3954d others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68279101 | ||||||
| chrX:68279238
|
G | A | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.312+3818C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68279238 | ||||||
| chrX:68279314
|
T | C | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.312+3742A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68279314 | ||||||
| chrX:68279532
|
A | G | 1 | a0001c0001t0003g0113 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.312+3524T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68279532 | ||||||
| chrX:68279630
|
T | C | 1 | a0001c0001t0001g0008 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.312+3426A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68279630 | ||||||
| chrX:68279896
|
A | G | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.312+3160T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68279896 | ||||||
| chrX:68280090
|
T | C | 1 | a0001c0001t0001g0060 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.312+2966A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68280090 | ||||||
| chrX:68280179
|
T | A | 3 | a0001c0001t0002g0021a0001c0001t0007g0023a0001c0001t0007g0033 | 3 | HG02257.hp2 HG02559.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.312+2877A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68280179 | ||||||
| chrX:68280217
|
C | T | 69 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(66): Show | 69 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(66): Show |
intron_variant | MODIFIER | c.312+2839G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68280217 | ||||||
| chrX:68280249
|
C | T | 1 | a0001c0001t0003g0035 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.312+2807G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68280249 | ||||||
| chrX:68280473
|
T | A | 31 | a0001c0001t0002g0014a0001c0001t0002g0021a0001c0001t0002g0108others(28): Show | 31 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(28): Show |
intron_variant | MODIFIER | c.312+2583A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68280473 | ||||||
| chrX:68281180
|
T | C | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.312+1876A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68281180 | ||||||
| chrX:68281601
|
A | G | 2 | a0001c0001t0001g0050a0001c0001t0001g0154 | 2 | HG00609.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.312+1455T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68281601 | ||||||
| chrX:68281654
|
A | T | 1 | a0001c0001t0029g0031 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.312+1402T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68281654 | ||||||
| chrX:68281823
|
G | A | 63 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(60): Show | 63 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(60): Show |
intron_variant | MODIFIER | c.312+1233C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68281823 | ||||||
| chrX:68281879
|
G | T | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.312+1177C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68281879 | ||||||
| chrX:68282228
|
C | T | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.312+828G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68282228 | ||||||
| chrX:68282395
|
G | A | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.312+661C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68282395 | ||||||
| chrX:68282875
|
A | G | 1 | a0001c0001t0003g0113 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.312+181T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 4/24 | chrX | 68282875 | ||||||
| chrX:68283455
|
CT | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.251-339delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68283455 | ||||||
| chrX:68283461
|
C | T | 4 | a0001c0001t0002g0125a0001c0001t0002g0127a0001c0001t0009g0128others(1): Show | 4 | HG01243.hp1 HG01255.hp1 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.251-344G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68283461 | ||||||
| chrX:68284046
|
G | A | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.251-929C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68284046 | ||||||
| chrX:68284374
|
G | T | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.251-1257C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68284374 | ||||||
| chrX:68284423
|
T | C | 2 | a0001c0001t0003g0076a0001c0001t0003g0100 | 2 | HG01106.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.251-1306A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68284423 | ||||||
| chrX:68284696
|
C | T | 18 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(15): Show | 18 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(15): Show |
intron_variant | MODIFIER | c.251-1579G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68284696 | ||||||
| chrX:68284817
|
T | G | 1 | a0001c0001t0002g0133 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.251-1700A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68284817 | ||||||
| chrX:68285095
|
G | A | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.251-1978C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68285095 | ||||||
| chrX:68285276
|
C | T | 6 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(3): Show | 6 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.251-2159G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68285276 | ||||||
| chrX:68285344
|
C | T | 7 | a0001c0001t0001g0071a0001c0001t0002g0125a0001c0001t0002g0127others(4): Show | 7 | HG00642.hp1 HG00735.hp2 HG01243.hp1 others(4): Show |
intron_variant | MODIFIER | c.251-2227G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68285344 | ||||||
| chrX:68285675
|
G | A | 1 | a0001c0001t0004g0005 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.251-2558C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68285675 | ||||||
| chrX:68285871
|
T | TA | 4 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106others(1): Show | 4 | HG01243.hp1 HG02647.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.251-2755dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68285871 | ||||||
| chrX:68286035
|
G | A | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.251-2918C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68286035 | ||||||
| chrX:68286197
|
T | G | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.251-3080A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68286197 | ||||||
| chrX:68286778
|
G | A | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.251-3661C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68286778 | ||||||
| chrX:68286973
|
C | G | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.251-3856G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68286973 | ||||||
| chrX:68286993
|
TGAGAGAG others(7): Show |
T | 1 | a0001c0001t0001g0075 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.251-3890_251-3877d others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68286993 | ||||||
| chrX:68287068
|
AAAGG | A | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.251-3955_251-3952d others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287068 | ||||||
| chrX:68287115
|
AAGAAAG | A | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.251-4004_251-3999d others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287115 | ||||||
| chrX:68287119
|
AAG | A | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.251-4004_251-4003d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287119 | ||||||
| chrX:68287124
|
A | G | 1 | a0001c0001t0005g0136 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.251-4007T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287124 | ||||||
| chrX:68287156
|
G | GGAAA | 17 | a0001c0001t0001g0041a0001c0001t0001g0051a0001c0001t0001g0079others(14): Show | 17 | HG00621.hp1 HG01074.hp1 HG01106.hp1 others(14): Show |
intron_variant | MODIFIER | c.251-4043_251-4040d others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287156 | ||||||
| chrX:68287156
|
G | GGAAAGAA others(1): Show |
8 | a0001c0001t0001g0145a0001c0001t0003g0018a0001c0001t0003g0020others(5): Show | 8 | HG02280.hp1 HG02723.hp1 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.251-4047_251-4040d others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287156 | ||||||
| chrX:68287156
|
G | GGAAAGAA others(5): Show |
7 | a0001c0001t0001g0038a0001c0001t0001g0143a0001c0001t0001g0146others(4): Show | 7 | HG02109.hp2 HG02559.hp2 HG02602.hp1 others(4): Show |
intron_variant | MODIFIER | c.251-4051_251-4040d others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287156 | ||||||
| chrX:68287156
|
G | GGAAAGAA others(9): Show |
3 | a0001c0001t0001g0140a0001c0001t0002g0144a0001c0001t0003g0091 | 3 | HG00099.hp2 HG02132.hp1 NA18966.hp1 |
intron_variant | MODIFIER | c.251-4055_251-4040d others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287156 | ||||||
| chrX:68287156
|
G | GGAAAGAA others(13): Show |
5 | a0001c0001t0001g0077a0001c0001t0003g0113a0001c0001t0004g0030others(2): Show | 5 | HG00738.hp1 HG01081.hp2 HG02071.hp1 others(2): Show |
intron_variant | MODIFIER | c.251-4059_251-4040d others(22): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287156 | ||||||
| chrX:68287156
|
G | GGAAAGAA others(17): Show |
10 | a0001c0001t0001g0071a0001c0001t0002g0124a0001c0001t0002g0126others(7): Show | 10 | HG00642.hp1 HG01891.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.251-4063_251-4040d others(26): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287156 | ||||||
| chrX:68287156
|
G | GGAAAGAA others(21): Show |
10 | a0001c0001t0002g0127a0001c0001t0002g0130a0001c0001t0002g0131others(7): Show | 10 | HG02559.hp1 HG02809.hp2 HG02818.hp2 others(7): Show |
intron_variant | MODIFIER | c.251-4067_251-4040d others(30): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287156 | ||||||
| chrX:68287156
|
G | GGAAAGAA others(25): Show |
12 | a0001c0001t0002g0114a0001c0001t0002g0116a0001c0001t0002g0125others(9): Show | 12 | HG00735.hp2 HG01167.hp1 HG01169.hp1 others(9): Show |
intron_variant | MODIFIER | c.251-4071_251-4040d others(34): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287156 | ||||||
| chrX:68287156
|
G | GGAAAGAA others(29): Show |
10 | a0001c0001t0002g0135a0001c0001t0003g0109a0001c0001t0003g0122others(7): Show | 10 | HG01243.hp1 HG02109.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.251-4040_251-4039i others(38): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287156 | ||||||
| chrX:68287156
|
G | GGAAAGAA others(33): Show |
1 | a0001c0001t0002g0108 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.251-4040_251-4039i others(42): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287156 | ||||||
| chrX:68287156
|
G | GGAAAGAA others(37): Show |
2 | a0001c0001t0002g0014a0001c0001t0002g0115 | 2 | HG02145.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.251-4040_251-4039i others(46): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287156 | ||||||
| chrX:68287157
|
G | GAAAGAAA others(2): Show |
2 | a0001c0001t0001g0008a0001c0001t0022g0103 | 2 | HG01081.hp1 HG01346.hp1 |
intron_variant | MODIFIER | c.251-4049_251-4041d others(11): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287157 | ||||||
| chrX:68287187
|
A | AAGAAAGA others(19): Show |
1 | a0001c0001t0002g0021 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.251-4071_251-4070i others(28): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287187 | ||||||
| chrX:68287222
|
A | G | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.251-4105T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287222 | ||||||
| chrX:68287337
|
T | TA | 7 | a0001c0001t0002g0115a0001c0001t0004g0026a0001c0001t0004g0030others(4): Show | 7 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.251-4221dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287337 | ||||||
| chrX:68287337
|
TA | T | 23 | a0001c0001t0001g0052a0001c0001t0001g0058a0001c0001t0002g0014others(20): Show | 23 | HG01891.hp2 HG02129.hp1 HG02135.hp1 others(20): Show |
intron_variant | MODIFIER | c.251-4221delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287337 | ||||||
| chrX:68287464
|
C | CA | 2 | a0001c0001t0004g0034a0002c0002t0003g0001 | 2 | HG02055.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.251-4348dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287464 | ||||||
| chrX:68287464
|
CA | C | 4 | a0001c0001t0001g0039a0001c0001t0003g0122a0001c0001t0005g0152others(1): Show | 4 | HG01081.hp1 HG02630.hp2 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.251-4348delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287464 | ||||||
| chrX:68287464
|
CAA | C | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.251-4349_251-4348d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287464 | ||||||
| chrX:68287493
|
A | T | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.251-4376T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287493 | ||||||
| chrX:68287561
|
A | C | 1 | a0001c0001t0001g0080 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.251-4444T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287561 | ||||||
| chrX:68287598
|
A | C | 1 | a0001c0001t0003g0101 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.251-4481T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287598 | ||||||
| chrX:68287670
|
C | T | 5 | a0001c0001t0003g0101a0001c0001t0004g0010a0001c0001t0004g0011others(2): Show | 5 | HG02280.hp2 HG02451.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.251-4553G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287670 | ||||||
| chrX:68287908
|
T | C | 74 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(71): Show | 74 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(71): Show |
intron_variant | MODIFIER | c.251-4791A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68287908 | ||||||
| chrX:68288178
|
A | G | 1 | a0001c0001t0001g0060 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.251-5061T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68288178 | ||||||
| chrX:68288213
|
G | A | 1 | a0001c0001t0030g0155 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.251-5096C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68288213 | ||||||
| chrX:68288657
|
G | A | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.251-5540C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68288657 | ||||||
| chrX:68289024
|
T | C | 1 | a0001c0001t0001g0009 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.251-5907A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68289024 | ||||||
| chrX:68289676
|
A | AC | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.251-6560dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68289676 | ||||||
| chrX:68290043
|
CT | C | 1 | a0001c0001t0001g0038 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.251-6927delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68290043 | ||||||
| chrX:68290071
|
A | G | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.251-6954T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68290071 | ||||||
| chrX:68290287
|
C | T | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.251-7170G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68290287 | ||||||
| chrX:68290598
|
C | CA | 21 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(18): Show | 21 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(18): Show |
intron_variant | MODIFIER | c.251-7482dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68290598 | ||||||
| chrX:68290619
|
G | A | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.251-7502C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68290619 | ||||||
| chrX:68290932
|
A | C | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.251-7815T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68290932 | ||||||
| chrX:68290979
|
C | T | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.251-7862G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68290979 | ||||||
| chrX:68291033
|
A | G | 1 | a0001c0001t0001g0025 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.251-7916T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68291033 | ||||||
| chrX:68291456
|
C | T | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.250+7545G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68291456 | ||||||
| chrX:68291548
|
T | C | 1 | a0001c0001t0001g0038 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.250+7453A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68291548 | ||||||
| chrX:68291898
|
G | A | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.250+7103C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68291898 | ||||||
| chrX:68291992
|
C | T | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.250+7009G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68291992 | ||||||
| chrX:68292143
|
T | A | 1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.250+6858A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68292143 | ||||||
| chrX:68292384
|
A | G | 1 | a0001c0001t0001g0039 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.250+6617T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68292384 | ||||||
| chrX:68292447
|
T | C | 1 | a0001c0001t0003g0065 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.250+6554A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68292447 | ||||||
| chrX:68292881
|
G | A | 4 | a0001c0001t0002g0115a0001c0001t0004g0004a0001c0001t0008g0096others(1): Show | 4 | HG02109.hp1 HG02145.hp1 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.250+6120C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68292881 | ||||||
| chrX:68292969
|
T | C | 74 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(71): Show | 74 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(71): Show |
intron_variant | MODIFIER | c.250+6032A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68292969 | ||||||
| chrX:68293003
|
G | A | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.250+5998C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68293003 | ||||||
| chrX:68293158
|
G | T | 18 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(15): Show | 18 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(15): Show |
intron_variant | MODIFIER | c.250+5843C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68293158 | ||||||
| chrX:68293232
|
T | C | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.250+5769A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68293232 | ||||||
| chrX:68293367
|
G | A | 1 | a0001c0001t0001g0145 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.250+5634C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68293367 | ||||||
| chrX:68293381
|
A | G | 74 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(71): Show | 74 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(71): Show |
intron_variant | MODIFIER | c.250+5620T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68293381 | ||||||
| chrX:68293500
|
T | A | 4 | a0001c0001t0002g0115a0001c0001t0004g0004a0001c0001t0008g0096others(1): Show | 4 | HG02109.hp1 HG02145.hp1 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.250+5501A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68293500 | ||||||
| chrX:68294020
|
A | G | 69 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(66): Show | 69 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(66): Show |
intron_variant | MODIFIER | c.250+4981T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68294020 | ||||||
| chrX:68294052
|
A | G | 32 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(29): Show | 32 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(29): Show |
intron_variant | MODIFIER | c.250+4949T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68294052 | ||||||
| chrX:68294373
|
C | T | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.250+4628G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68294373 | ||||||
| chrX:68294473
|
C | CA | 31 | a0001c0001t0001g0015a0001c0001t0001g0038a0001c0001t0001g0040others(28): Show | 31 | HG00140.hp1 HG00673.hp1 HG00735.hp1 others(28): Show |
intron_variant | MODIFIER | c.250+4527dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68294473 | ||||||
| chrX:68294473
|
C | CAA | 5 | a0001c0001t0002g0021a0001c0001t0005g0152a0001c0001t0007g0022others(2): Show | 5 | HG02257.hp2 HG02559.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.250+4526_250+4527d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68294473 | ||||||
| chrX:68294473
|
CA | C | 5 | a0001c0001t0001g0098a0001c0001t0002g0115a0001c0001t0003g0151others(2): Show | 5 | HG01943.hp1 HG02145.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.250+4527delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68294473 | ||||||
| chrX:68294473
|
CAA | C | 3 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02109.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.250+4526_250+4527d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68294473 | ||||||
| chrX:68294473
|
CAAAAAAA | C | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.250+4521_250+4527d others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68294473 | ||||||
| chrX:68294473
|
CAAAAAAA others(2): Show |
C | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.250+4519_250+4527d others(11): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68294473 | ||||||
| chrX:68294501
|
A | AAAAT | 1 | a0001c0001t0002g0019 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.250+4499_250+4500i others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68294501 | ||||||
| chrX:68294501
|
A | AAT | 2 | a0001c0001t0003g0018a0001c0001t0003g0020 | 2 | HG02280.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.250+4499_250+4500i others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68294501 | ||||||
| chrX:68294525
|
A | C | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.250+4476T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68294525 | ||||||
| chrX:68294561
|
A | G | 1 | a0001c0001t0002g0126 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.250+4440T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68294561 | ||||||
| chrX:68294696
|
T | C | 16 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(13): Show | 16 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(13): Show |
intron_variant | MODIFIER | c.250+4305A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68294696 | ||||||
| chrX:68294776
|
T | C | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.250+4225A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68294776 | ||||||
| chrX:68294919
|
C | A | 1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.250+4082G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68294919 | ||||||
| chrX:68295098
|
A | G | 31 | a0001c0001t0002g0014a0001c0001t0002g0021a0001c0001t0002g0108others(28): Show | 31 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(28): Show |
intron_variant | MODIFIER | c.250+3903T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68295098 | ||||||
| chrX:68295621
|
C | T | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.250+3380G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68295621 | ||||||
| chrX:68295943
|
A | AT | 2 | a0001c0001t0007g0022a0001c0001t0007g0033 | 2 | NA19030.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.250+3057dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68295943 | ||||||
| chrX:68295945
|
T | C | 1 | a0001c0001t0003g0113 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.250+3056A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68295945 | ||||||
| chrX:68296609
|
C | T | 1 | a0001c0001t0005g0136 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.250+2392G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68296609 | ||||||
| chrX:68296647
|
T | TA | 1 | a0001c0001t0003g0035 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.250+2353dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68296647 | ||||||
| chrX:68296647
|
TA | T | 11 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0092others(8): Show | 11 | HG01943.hp1 HG02132.hp1 HG02572.hp1 others(8): Show |
intron_variant | MODIFIER | c.250+2353delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68296647 | ||||||
| chrX:68296647
|
TAA | T | 16 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(13): Show | 16 | HG01891.hp2 HG02486.hp1 HG02615.hp1 others(13): Show |
intron_variant | MODIFIER | c.250+2352_250+2353d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68296647 | ||||||
| chrX:68296647
|
TAAA | T | 5 | a0001c0001t0002g0115a0001c0001t0003g0122a0001c0001t0004g0004others(2): Show | 5 | HG02109.hp1 HG02145.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.250+2351_250+2353d others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68296647 | ||||||
| chrX:68296647
|
TAAAA | T | 6 | a0001c0001t0002g0021a0001c0001t0002g0133a0001c0001t0005g0152others(3): Show | 6 | HG01891.hp1 HG02257.hp2 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.250+2350_250+2353d others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68296647 | ||||||
| chrX:68296682
|
T | C | 30 | a0001c0001t0002g0014a0001c0001t0002g0021a0001c0001t0002g0108others(27): Show | 30 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(27): Show |
intron_variant | MODIFIER | c.250+2319A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68296682 | ||||||
| chrX:68296700
|
C | T | 17 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(14): Show | 17 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(14): Show |
intron_variant | MODIFIER | c.250+2301G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68296700 | ||||||
| chrX:68296794
|
G | GTCTT | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.250+2203_250+2206d others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68296794 | ||||||
| chrX:68296811
|
T | A | 2 | a0001c0001t0003g0018a0001c0001t0003g0020 | 2 | HG02280.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.250+2190A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68296811 | ||||||
| chrX:68297203
|
A | T | 27 | a0001c0001t0002g0014a0001c0001t0002g0021a0001c0001t0002g0108others(24): Show | 27 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(24): Show |
intron_variant | MODIFIER | c.250+1798T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68297203 | ||||||
| chrX:68297933
|
G | C | 69 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(66): Show | 69 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(66): Show |
intron_variant | MODIFIER | c.250+1068C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68297933 | ||||||
| chrX:68298131
|
T | C | 1 | a0001c0001t0004g0005 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.250+870A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68298131 | ||||||
| chrX:68298277
|
A | C | 3 | a0001c0001t0003g0151a0001c0001t0004g0094a0001c0001t0004g0095 | 3 | HG03209.hp1 HG03516.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.250+724T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68298277 | ||||||
| chrX:68298413
|
C | T | 1 | a0001c0001t0013g0042 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.250+588G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | 68298413 | ||||||
| chrX:68299163
|
A | G | 30 | a0001c0001t0002g0014a0001c0001t0002g0021a0001c0001t0002g0108others(27): Show | 30 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(27): Show |
intron_variant | MODIFIER | c.155-67T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68299163 | ||||||
| chrX:68299650
|
C | G | 30 | a0001c0001t0002g0014a0001c0001t0002g0021a0001c0001t0002g0108others(27): Show | 30 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(27): Show |
intron_variant | MODIFIER | c.155-554G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68299650 | ||||||
| chrX:68299703
|
C | T | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.155-607G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68299703 | ||||||
| chrX:68299825
|
C | A | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.155-729G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68299825 | ||||||
| chrX:68300154
|
CT | C | 1 | a0001c0001t0004g0117 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.155-1059delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68300154 | ||||||
| chrX:68300167
|
C | T | 1 | a0001c0001t0001g0097 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.155-1071G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68300167 | ||||||
| chrX:68300172
|
T | C | 69 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(66): Show | 69 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(66): Show |
intron_variant | MODIFIER | c.155-1076A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68300172 | ||||||
| chrX:68300201
|
T | C | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.155-1105A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68300201 | ||||||
| chrX:68300345
|
T | C | 1 | a0001c0001t0005g0152 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.155-1249A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68300345 | ||||||
| chrX:68301101
|
T | C | 1 | a0001c0001t0016g0119 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.155-2005A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68301101 | ||||||
| chrX:68301115
|
C | CA | 30 | a0001c0001t0002g0014a0001c0001t0002g0021a0001c0001t0002g0108others(27): Show | 30 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(27): Show |
intron_variant | MODIFIER | c.155-2020dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68301115 | ||||||
| chrX:68301445
|
C | CA | 17 | a0001c0001t0001g0067a0001c0001t0001g0070a0001c0001t0001g0080others(14): Show | 17 | HG01081.hp2 HG01106.hp1 HG01169.hp1 others(14): Show |
intron_variant | MODIFIER | c.155-2350dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68301445 | ||||||
| chrX:68301445
|
C | CAA | 1 | a0001c0001t0001g0048 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.155-2351_155-2350d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68301445 | ||||||
| chrX:68301445
|
CA | C | 50 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(47): Show | 50 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(47): Show |
intron_variant | MODIFIER | c.155-2350delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68301445 | ||||||
| chrX:68301445
|
CAA | C | 9 | a0001c0001t0002g0021a0001c0001t0002g0133a0001c0001t0004g0004others(6): Show | 9 | HG01891.hp1 HG02109.hp1 HG02257.hp1 others(6): Show |
intron_variant | MODIFIER | c.155-2351_155-2350d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68301445 | ||||||
| chrX:68301586
|
G | A | 1 | a0001c0001t0001g0080 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.155-2490C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68301586 | ||||||
| chrX:68301685
|
C | T | 1 | a0001c0001t0028g0084 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.155-2589G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68301685 | ||||||
| chrX:68302588
|
C | CA | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.155-3493dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68302588 | ||||||
| chrX:68302639
|
G | A | 21 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(18): Show | 21 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(18): Show |
intron_variant | MODIFIER | c.155-3543C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68302639 | ||||||
| chrX:68302759
|
A | T | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.155-3663T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68302759 | ||||||
| chrX:68302765
|
T | G | 1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.155-3669A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68302765 | ||||||
| chrX:68302973
|
C | CA | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.155-3878dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68302973 | ||||||
| chrX:68303169
|
T | A | 3 | a0001c0001t0004g0026a0001c0001t0006g0120a0001c0001t0006g0121 | 3 | HG01167.hp1 HG01169.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.155-4073A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68303169 | ||||||
| chrX:68303580
|
G | A | 3 | a0001c0001t0002g0019a0001c0001t0003g0018a0001c0001t0003g0020 | 3 | HG02109.hp2 HG02280.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.155-4484C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68303580 | ||||||
| chrX:68303591
|
A | T | 30 | a0001c0001t0002g0014a0001c0001t0002g0021a0001c0001t0002g0108others(27): Show | 30 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(27): Show |
intron_variant | MODIFIER | c.155-4495T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68303591 | ||||||
| chrX:68303635
|
T | C | 30 | a0001c0001t0002g0014a0001c0001t0002g0021a0001c0001t0002g0108others(27): Show | 30 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(27): Show |
intron_variant | MODIFIER | c.155-4539A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68303635 | ||||||
| chrX:68303640
|
T | C | 30 | a0001c0001t0002g0014a0001c0001t0002g0021a0001c0001t0002g0108others(27): Show | 30 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(27): Show |
intron_variant | MODIFIER | c.155-4544A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68303640 | ||||||
| chrX:68303648
|
CA | C | 16 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(13): Show | 16 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(13): Show |
intron_variant | MODIFIER | c.155-4553delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68303648 | ||||||
| chrX:68303668
|
A | T | 1 | a0001c0001t0001g0038 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.155-4572T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68303668 | ||||||
| chrX:68303797
|
A | G | 1 | a0001c0001t0002g0047 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.155-4701T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68303797 | ||||||
| chrX:68303984
|
C | T | 30 | a0001c0001t0002g0014a0001c0001t0002g0021a0001c0001t0002g0108others(27): Show | 30 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(27): Show |
intron_variant | MODIFIER | c.155-4888G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68303984 | ||||||
| chrX:68303994
|
AG | A | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.155-4899delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68303994 | ||||||
| chrX:68304247
|
CA | C | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.155-5152delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68304247 | ||||||
| chrX:68304248
|
AT | A | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.155-5153delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68304248 | ||||||
| chrX:68304303
|
A | C | 32 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(29): Show | 32 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(29): Show |
intron_variant | MODIFIER | c.155-5207T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68304303 | ||||||
| chrX:68304519
|
A | G | 1 | a0001c0001t0001g0145 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.155-5423T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68304519 | ||||||
| chrX:68304695
|
G | C | 1 | a0001c0001t0003g0076 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.155-5599C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68304695 | ||||||
| chrX:68304710
|
G | C | 30 | a0001c0001t0002g0014a0001c0001t0002g0021a0001c0001t0002g0108others(27): Show | 30 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(27): Show |
intron_variant | MODIFIER | c.155-5614C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68304710 | ||||||
| chrX:68304761
|
C | T | 16 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(13): Show | 16 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(13): Show |
intron_variant | MODIFIER | c.155-5665G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68304761 | ||||||
| chrX:68304861
|
A | G | 1 | a0001c0001t0001g0093 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.155-5765T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68304861 | ||||||
| chrX:68304871
|
A | G | 2 | a0001c0001t0001g0050a0001c0001t0001g0154 | 2 | HG00609.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.155-5775T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68304871 | ||||||
| chrX:68306055
|
G | A | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.155-6959C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68306055 | ||||||
| chrX:68306124
|
C | T | 30 | a0001c0001t0002g0014a0001c0001t0002g0021a0001c0001t0002g0108others(27): Show | 30 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(27): Show |
intron_variant | MODIFIER | c.155-7028G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68306124 | ||||||
| chrX:68306437
|
C | T | 30 | a0001c0001t0002g0014a0001c0001t0002g0021a0001c0001t0002g0108others(27): Show | 30 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(27): Show |
intron_variant | MODIFIER | c.155-7341G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68306437 | ||||||
| chrX:68306644
|
G | C | 1 | a0001c0001t0001g0052 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.155-7548C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68306644 | ||||||
| chrX:68307090
|
T | A | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.155-7994A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68307090 | ||||||
| chrX:68307285
|
A | AAAT | 12 | a0001c0001t0002g0021a0001c0001t0002g0133a0001c0001t0003g0122others(9): Show | 12 | HG01891.hp1 HG02109.hp1 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.155-8190_155-8189i others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68307285 | ||||||
| chrX:68307288
|
A | AAAT | 18 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(15): Show | 18 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(15): Show |
intron_variant | MODIFIER | c.155-8195_155-8193d others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68307288 | ||||||
| chrX:68307288
|
A | T | 12 | a0001c0001t0002g0021a0001c0001t0002g0133a0001c0001t0003g0122others(9): Show | 12 | HG01891.hp1 HG02109.hp1 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.155-8192T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68307288 | ||||||
| chrX:68307291
|
T | A | 1 | a0001c0001t0001g0051 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.155-8195A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68307291 | ||||||
| chrX:68307443
|
G | A | 2 | a0001c0001t0008g0096a0001c0001t0019g0003 | 2 | HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.155-8347C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68307443 | ||||||
| chrX:68307455
|
C | CA | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.155-8360dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68307455 | ||||||
| chrX:68307455
|
C | CAA | 26 | a0001c0001t0002g0014a0001c0001t0002g0021a0001c0001t0002g0108others(23): Show | 26 | HG01891.hp1 HG01891.hp2 HG02257.hp1 others(23): Show |
intron_variant | MODIFIER | c.155-8361_155-8360d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68307455 | ||||||
| chrX:68307455
|
C | CAAA | 2 | a0001c0001t0004g0004a0001c0001t0030g0155 | 2 | HG02109.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.155-8360_155-8359i others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68307455 | ||||||
| chrX:68307458
|
C | A | 30 | a0001c0001t0002g0014a0001c0001t0002g0021a0001c0001t0002g0108others(27): Show | 30 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(27): Show |
intron_variant | MODIFIER | c.155-8362G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68307458 | ||||||
| chrX:68307458
|
C | CA | 1 | a0001c0001t0023g0037 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.155-8363dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68307458 | ||||||
| chrX:68307461
|
A | C | 2 | a0001c0001t0001g0140a0001c0001t0003g0081 | 2 | HG03492.hp1 NA18966.hp1 |
intron_variant | MODIFIER | c.155-8365T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68307461 | ||||||
| chrX:68307728
|
A | T | 1 | a0001c0003t0010g0089 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.155-8632T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68307728 | ||||||
| chrX:68308000
|
C | A | 30 | a0001c0001t0002g0014a0001c0001t0002g0021a0001c0001t0002g0108others(27): Show | 30 | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(27): Show |
intron_variant | MODIFIER | c.155-8904G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68308000 | ||||||
| chrX:68308149
|
A | G | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.155-9053T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68308149 | ||||||
| chrX:68308601
|
A | AAAAAG | 25 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(22): Show | 25 | HG00099.hp2 HG01891.hp2 HG02109.hp1 others(22): Show |
intron_variant | MODIFIER | c.155-9510_155-9506d others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68308601 | ||||||
| chrX:68308727
|
G | A | 16 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(13): Show | 16 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(13): Show |
intron_variant | MODIFIER | c.155-9631C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68308727 | ||||||
| chrX:68308760
|
C | A | 1 | a0001c0001t0002g0134 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.155-9664G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68308760 | ||||||
| chrX:68308967
|
TGTAG | T | 1 | a0001c0001t0004g0005 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.155-9875_155-9872d others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68308967 | ||||||
| chrX:68309247
|
G | T | 2 | a0001c0001t0007g0022a0001c0001t0007g0033 | 2 | NA19030.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.155-10151C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68309247 | ||||||
| chrX:68309419
|
G | T | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-10323C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68309419 | ||||||
| chrX:68309616
|
C | T | 1 | a0001c0001t0001g0066 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.155-10520G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68309616 | ||||||
| chrX:68309873
|
G | C | 21 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(18): Show | 21 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(18): Show |
intron_variant | MODIFIER | c.155-10777C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68309873 | ||||||
| chrX:68309901
|
T | A | 3 | a0001c0001t0003g0151a0001c0001t0004g0094a0001c0001t0004g0095 | 3 | HG03209.hp1 HG03516.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.155-10805A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68309901 | ||||||
| chrX:68309932
|
C | A | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-10836G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68309932 | ||||||
| chrX:68309935
|
C | A | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-10839G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68309935 | ||||||
| chrX:68309981
|
T | C | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-10885A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68309981 | ||||||
| chrX:68310171
|
A | C | 1 | a0001c0001t0005g0152 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.155-11075T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68310171 | ||||||
| chrX:68310174
|
A | G | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-11078T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68310174 | ||||||
| chrX:68310381
|
A | T | 20 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(17): Show | 20 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(17): Show |
intron_variant | MODIFIER | c.155-11285T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68310381 | ||||||
| chrX:68310418
|
C | T | 1 | a0001c0001t0002g0123 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.155-11322G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68310418 | ||||||
| chrX:68310436
|
G | GA | 1 | a0001c0001t0001g0093 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.155-11341dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68310436 | ||||||
| chrX:68310436
|
GA | G | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-11341delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68310436 | ||||||
| chrX:68311097
|
C | CA | 21 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(18): Show | 21 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(18): Show |
intron_variant | MODIFIER | c.155-12002dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68311097 | ||||||
| chrX:68311167
|
A | G | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-12071T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68311167 | ||||||
| chrX:68311560
|
G | A | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.155-12464C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68311560 | ||||||
| chrX:68311563
|
A | G | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-12467T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68311563 | ||||||
| chrX:68311598
|
C | A | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-12502G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68311598 | ||||||
| chrX:68312100
|
A | AT | 21 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0052others(18): Show | 21 | HG00099.hp2 HG01081.hp1 HG01099.hp1 others(18): Show |
intron_variant | MODIFIER | c.155-13005dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68312100 | ||||||
| chrX:68312100
|
AT | A | 28 | a0001c0001t0001g0025a0001c0001t0001g0064a0001c0001t0001g0093others(25): Show | 28 | HG00280.hp1 HG00735.hp1 HG01515.hp1 others(25): Show |
intron_variant | MODIFIER | c.155-13005delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68312100 | ||||||
| chrX:68312100
|
ATT | A | 4 | a0001c0001t0004g0010a0001c0001t0004g0011a0001c0001t0004g0012others(1): Show | 4 | HG02280.hp2 HG02451.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-13006_155-1300 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68312100 | ||||||
| chrX:68312100
|
ATTT | A | 1 | a0001c0001t0003g0101 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.155-13007_155-1300 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68312100 | ||||||
| chrX:68312248
|
G | T | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.155-13152C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68312248 | ||||||
| chrX:68312252
|
A | AT | 11 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0001t0001g0062others(8): Show | 11 | HG00609.hp1 HG01433.hp1 HG02056.hp1 others(8): Show |
intron_variant | MODIFIER | c.155-13157dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68312252 | ||||||
| chrX:68312252
|
AT | A | 31 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(28): Show | 31 | HG00099.hp2 HG00642.hp1 HG00738.hp1 others(28): Show |
intron_variant | MODIFIER | c.155-13157delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68312252 | ||||||
| chrX:68312252
|
ATTTTTTT | A | 1 | a0001c0001t0004g0005 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.155-13163_155-1315 others(11): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68312252 | ||||||
| chrX:68312602
|
C | T | 21 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(18): Show | 21 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(18): Show |
intron_variant | MODIFIER | c.155-13506G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68312602 | ||||||
| chrX:68312609
|
A | G | 1 | a0001c0001t0003g0151 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.155-13513T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68312609 | ||||||
| chrX:68312615
|
T | C | 1 | a0001c0001t0018g0104 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.155-13519A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68312615 | ||||||
| chrX:68312833
|
C | T | 1 | a0001c0001t0001g0060 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.155-13737G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68312833 | ||||||
| chrX:68312834
|
G | A | 38 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(35): Show | 38 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(35): Show |
intron_variant | MODIFIER | c.155-13738C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68312834 | ||||||
| chrX:68312846
|
T | C | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-13750A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68312846 | ||||||
| chrX:68312987
|
C | T | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.155-13891G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68312987 | ||||||
| chrX:68313848
|
A | G | 3 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02109.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.155-14752T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68313848 | ||||||
| chrX:68313879
|
C | T | 1 | a0001c0001t0001g0141 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.155-14783G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68313879 | ||||||
| chrX:68313884
|
C | T | 21 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(18): Show | 21 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(18): Show |
intron_variant | MODIFIER | c.155-14788G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68313884 | ||||||
| chrX:68313946
|
A | G | 1 | a0001c0001t0001g0066 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.155-14850T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68313946 | ||||||
| chrX:68313986
|
C | G | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.155-14890G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68313986 | ||||||
| chrX:68314007
|
ATTTTTTT others(34): Show |
A | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.155-14952_155-1491 others(45): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68314007 | ||||||
| chrX:68314292
|
C | T | 1 | a0001c0001t0002g0123 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.155-15196G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68314292 | ||||||
| chrX:68314340
|
G | A | 1 | a0001c0001t0027g0072 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.155-15244C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68314340 | ||||||
| chrX:68314521
|
C | CA | 2 | a0001c0001t0001g0048a0001c0001t0030g0155 | 2 | HG02738.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.155-15426dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68314521 | ||||||
| chrX:68314684
|
C | CA | 24 | a0001c0001t0001g0008a0001c0001t0001g0029a0001c0001t0001g0038others(21): Show | 24 | HG00099.hp2 HG01081.hp1 HG01346.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-15589dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68314684 | ||||||
| chrX:68314684
|
C | CAA | 1 | a0001c0001t0002g0133 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.155-15590_155-1558 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68314684 | ||||||
| chrX:68314889
|
G | A | 33 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(30): Show | 33 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(30): Show |
intron_variant | MODIFIER | c.155-15793C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68314889 | ||||||
| chrX:68314985
|
C | CA | 12 | a0001c0001t0001g0029a0001c0001t0002g0021a0001c0001t0002g0054others(9): Show | 12 | HG01358.hp1 HG01891.hp1 HG01943.hp1 others(9): Show |
intron_variant | MODIFIER | c.155-15890dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68314985 | ||||||
| chrX:68315129
|
A | T | 154 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(151): Show | 154 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
intron_variant | MODIFIER | c.155-16033T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68315129 | ||||||
| chrX:68315203
|
C | T | 3 | a0001c0001t0003g0151a0001c0001t0004g0094a0001c0001t0004g0095 | 3 | HG03209.hp1 HG03516.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.155-16107G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68315203 | ||||||
| chrX:68315561
|
C | T | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-16465G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68315561 | ||||||
| chrX:68315744
|
AC | A | 3 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02109.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.155-16649delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68315744 | ||||||
| chrX:68315889
|
C | T | 5 | a0001c0001t0003g0101a0001c0001t0004g0010a0001c0001t0004g0011others(2): Show | 5 | HG02280.hp2 HG02451.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-16793G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68315889 | ||||||
| chrX:68316089
|
G | A | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-16993C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68316089 | ||||||
| chrX:68316388
|
T | C | 12 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0077others(9): Show | 12 | HG01081.hp1 HG01346.hp1 HG02071.hp1 others(9): Show |
intron_variant | MODIFIER | c.155-17292A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68316388 | ||||||
| chrX:68316772
|
T | TC | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-17677dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68316772 | ||||||
| chrX:68316871
|
A | G | 21 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(18): Show | 21 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(18): Show |
intron_variant | MODIFIER | c.155-17775T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68316871 | ||||||
| chrX:68317175
|
C | G | 1 | a0001c0003t0010g0085 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.155-18079G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317175 | ||||||
| chrX:68317193
|
A | G | 4 | a0001c0001t0001g0016a0001c0001t0001g0059a0001c0001t0001g0074others(1): Show | 4 | HG01069.hp1 HG01256.hp1 HG01258.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-18097T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317193 | ||||||
| chrX:68317299
|
C | CA | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.155-18204dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317299 | ||||||
| chrX:68317299
|
CA | C | 1 | a0001c0001t0004g0030 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.155-18204delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317299 | ||||||
| chrX:68317338
|
G | GGAAA | 16 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0025others(13): Show | 16 | HG00609.hp1 HG01069.hp1 HG01169.hp2 others(13): Show |
intron_variant | MODIFIER | c.155-18246_155-1824 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317338 | ||||||
| chrX:68317338
|
G | GGAAAGAA others(1): Show |
11 | a0001c0001t0001g0008a0001c0001t0001g0039a0001c0001t0001g0052others(8): Show | 11 | HG01192.hp1 HG01346.hp1 HG02129.hp1 others(8): Show |
intron_variant | MODIFIER | c.155-18250_155-1824 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317338 | ||||||
| chrX:68317338
|
G | GGAAAGAA others(5): Show |
9 | a0001c0001t0001g0046a0001c0001t0001g0051a0001c0001t0001g0053others(6): Show | 9 | HG00621.hp1 HG01928.hp1 HG02071.hp1 others(6): Show |
intron_variant | MODIFIER | c.155-18254_155-1824 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317338 | ||||||
| chrX:68317338
|
G | GGAAAGAA others(9): Show |
12 | a0001c0001t0001g0040a0001c0001t0001g0045a0001c0001t0001g0048others(9): Show | 12 | HG00673.hp1 HG02015.hp1 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.155-18258_155-1824 others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317338 | ||||||
| chrX:68317338
|
G | GGAAAGAA others(13): Show |
2 | a0001c0001t0002g0006a0001c0001t0005g0136 | 2 | HG02074.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.155-18262_155-1824 others(24): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317338 | ||||||
| chrX:68317338
|
G | GGAAAGAA others(17): Show |
4 | a0001c0001t0001g0145a0001c0001t0002g0133a0001c0001t0003g0139others(1): Show | 4 | HG01081.hp1 HG01891.hp1 HG02258.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-18266_155-1824 others(28): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317338 | ||||||
| chrX:68317338
|
G | GGAAAGAA others(21): Show |
1 | a0001c0001t0004g0012 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.155-18270_155-1824 others(32): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317338 | ||||||
| chrX:68317338
|
G | GGAAAGAA others(25): Show |
2 | a0001c0001t0003g0091a0001c0001t0004g0011 | 2 | HG00099.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.155-18274_155-1824 others(36): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317338 | ||||||
| chrX:68317338
|
G | GGAAAGAA others(29): Show |
2 | a0001c0001t0001g0009a0001c0001t0003g0151 | 2 | NA18522.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.155-18278_155-1824 others(40): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317338 | ||||||
| chrX:68317338
|
G | GGAAAGAA others(33): Show |
1 | a0001c0001t0023g0037 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.155-18282_155-1824 others(44): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317338 | ||||||
| chrX:68317338
|
GGAAA | G | 2 | a0001c0001t0005g0110a0001c0001t0006g0013 | 2 | HG02630.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.155-18246_155-1824 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317338 | ||||||
| chrX:68317338
|
GGAAAGAA others(5): Show |
G | 1 | a0001c0001t0008g0112 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.155-18254_155-1824 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317338 | ||||||
| chrX:68317338
|
GGAAAGAA others(9): Show |
G | 4 | a0001c0001t0002g0116a0001c0001t0003g0118a0001c0001t0004g0117others(1): Show | 4 | HG01891.hp2 HG02572.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-18258_155-1824 others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317338 | ||||||
| chrX:68317338
|
GGAAAGAA others(13): Show |
G | 10 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(7): Show | 10 | HG02486.hp1 HG02615.hp1 HG02922.hp1 others(7): Show |
intron_variant | MODIFIER | c.155-18262_155-1824 others(24): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317338 | ||||||
| chrX:68317360
|
AAAGAAAG others(13): Show |
A | 3 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02109.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.155-18284_155-1826 others(24): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317360 | ||||||
| chrX:68317360
|
AAAGAAAG others(17): Show |
A | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.155-18288_155-1826 others(28): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317360 | ||||||
| chrX:68317360
|
AAAGAAAG others(21): Show |
A | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.155-18292_155-1826 others(32): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317360 | ||||||
| chrX:68317364
|
A | G | 1 | a0001c0001t0005g0110 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.155-18268T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317364 | ||||||
| chrX:68317368
|
A | G | 2 | a0001c0001t0005g0110a0001c0001t0006g0013 | 2 | HG02630.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.155-18272T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317368 | ||||||
| chrX:68317368
|
AAAGAAAG others(5): Show |
A | 1 | a0001c0001t0003g0063 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.155-18284_155-1827 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317368 | ||||||
| chrX:68317372
|
A | AAAGGAAG others(1): Show |
1 | a0001c0001t0005g0152 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.155-18277_155-1827 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317372 | ||||||
| chrX:68317372
|
A | G | 4 | a0001c0001t0005g0110a0001c0001t0006g0013a0001c0001t0008g0112others(1): Show | 4 | HG02630.hp1 HG02818.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-18276T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317372 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(37): Show |
1 | a0001c0001t0002g0127 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.155-18281_155-1828 others(48): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(41): Show |
1 | a0001c0001t0009g0129 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.155-18281_155-1828 others(52): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(25): Show |
2 | a0001c0001t0002g0125a0001c0001t0006g0120 | 2 | HG01169.hp1 HG01255.hp1 |
intron_variant | MODIFIER | c.155-18281_155-1828 others(36): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(29): Show |
1 | a0001c0001t0002g0021 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.155-18281_155-1828 others(40): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(21): Show |
3 | a0001c0001t0006g0121a0001c0001t0007g0023a0001c0001t0009g0128 | 3 | HG01167.hp1 HG02451.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.155-18281_155-1828 others(32): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(25): Show |
2 | a0001c0001t0007g0022a0001c0001t0007g0033 | 2 | NA19030.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.155-18281_155-1828 others(36): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(45): Show |
1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.155-18281_155-1828 others(56): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(17): Show |
1 | a0001c0001t0026g0056 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.155-18281_155-1828 others(28): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(33): Show |
1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.155-18281_155-1828 others(44): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(21): Show |
1 | a0001c0001t0001g0071 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.155-18281_155-1828 others(32): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(17): Show |
1 | a0001c0001t0002g0144 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.155-18281_155-1828 others(28): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(21): Show |
1 | a0001c0001t0002g0124 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.155-18281_155-1828 others(32): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(9): Show |
2 | a0001c0001t0001g0070a0001c0001t0013g0042 | 2 | HG01346.hp2 NA19056.hp1 |
intron_variant | MODIFIER | c.155-18281_155-1828 others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(13): Show |
3 | a0001c0001t0001g0041a0001c0001t0002g0123a0001c0001t0003g0018 | 3 | HG02027.hp1 HG02280.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.155-18281_155-1828 others(24): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(21): Show |
1 | a0001c0001t0003g0113 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.155-18281_155-1828 others(32): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(8): Show |
1 | a0001c0001t0001g0154 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.155-18281_155-1828 others(19): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(5): Show |
7 | a0001c0001t0001g0017a0001c0001t0001g0044a0001c0001t0001g0080others(4): Show | 7 | HG01106.hp1 HG02056.hp1 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.155-18281_155-1828 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(9): Show |
1 | a0001c0001t0004g0026 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.155-18281_155-1828 others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(13): Show |
3 | a0001c0001t0001g0092a0001c0001t0021g0150a0001c0001t0024g0007 | 3 | HG03471.hp1 NA18960.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.155-18281_155-1828 others(24): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(21): Show |
1 | a0001c0001t0002g0019 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.155-18281_155-1828 others(32): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(8): Show |
1 | a0001c0001t0025g0087 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.155-18281_155-1828 others(19): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(1): Show |
4 | a0001c0001t0001g0027a0001c0001t0001g0141a0001c0001t0015g0148others(1): Show | 4 | HG01074.hp1 HG01943.hp1 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-18281_155-1828 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | AAAGAAAG others(9): Show |
3 | a0001c0001t0001g0147a0001c0001t0004g0005a0001c0001t0029g0031 | 3 | HG00735.hp2 HG01934.hp1 NA18962.hp1 |
intron_variant | MODIFIER | c.155-18281_155-1828 others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
A | G | 10 | a0001c0001t0002g0116a0001c0001t0003g0101a0001c0001t0003g0118others(7): Show | 10 | HG01891.hp2 HG01952.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.155-18280T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
AAAGG | A | 4 | a0001c0001t0001g0043a0001c0001t0001g0064a0001c0001t0004g0030others(1): Show | 4 | HG00099.hp1 HG01081.hp2 HG02300.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-18284_155-1828 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
AAAGGAAG others(5): Show |
A | 1 | a0001c0001t0001g0093 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.155-18292_155-1828 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317376
|
AAAGGAAG others(9): Show |
A | 1 | a0001c0001t0003g0081 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.155-18296_155-1828 others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317376 | ||||||
| chrX:68317379
|
G | GAAAGAAA | 1 | a0001c0001t0001g0066 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.155-18284_155-1828 others(11): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317379 | ||||||
| chrX:68317379
|
G | GAAAGAAA others(8): Show |
1 | a0002c0002t0001g0002 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.155-18284_155-1828 others(19): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317379 | ||||||
| chrX:68317379
|
G | GAAAGAAA others(11): Show |
1 | a0001c0001t0016g0119 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.155-18284_155-1828 others(22): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317379 | ||||||
| chrX:68317379
|
G | GAAAGAAA others(23): Show |
1 | a0001c0001t0001g0140 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.155-18284_155-1828 others(34): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317379 | ||||||
| chrX:68317380
|
G | A | 40 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0016others(37): Show | 40 | HG00140.hp1 HG00673.hp1 HG01069.hp1 others(37): Show |
intron_variant | MODIFIER | c.155-18284C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317380 | ||||||
| chrX:68317383
|
G | A | 1 | a0001c0001t0001g0066 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.155-18287C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317383 | ||||||
| chrX:68317384
|
G | A | 11 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0038others(8): Show | 11 | HG00099.hp1 HG01081.hp2 HG01346.hp1 others(8): Show |
intron_variant | MODIFIER | c.155-18288C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317384 | ||||||
| chrX:68317388
|
G | A | 2 | a0001c0001t0001g0008a0001c0001t0001g0043 | 2 | HG01346.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.155-18292C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317388 | ||||||
| chrX:68317390
|
A | G | 1 | a0001c0001t0009g0129 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.155-18294T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317390 | ||||||
| chrX:68317392
|
G | A | 1 | a0001c0001t0001g0008 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.155-18296C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317392 | ||||||
| chrX:68317394
|
A | G | 4 | a0001c0001t0002g0125a0001c0001t0002g0127a0001c0001t0009g0128others(1): Show | 4 | HG01243.hp1 HG01255.hp1 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-18298T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317394 | ||||||
| chrX:68317422
|
A | G | 23 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(20): Show | 23 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(20): Show |
intron_variant | MODIFIER | c.155-18326T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317422 | ||||||
| chrX:68317462
|
A | AGAG | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.155-18369_155-1836 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317462 | ||||||
| chrX:68317479
|
AAGGGAGA others(5): Show |
A | 20 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(17): Show | 20 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(17): Show |
intron_variant | MODIFIER | c.155-18395_155-1838 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317479 | ||||||
| chrX:68317497
|
G | A | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.155-18401C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317497 | ||||||
| chrX:68317502
|
G | A | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.155-18406C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317502 | ||||||
| chrX:68317505
|
GGGAAAGA others(29): Show |
G | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.155-18445_155-1841 others(40): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317505 | ||||||
| chrX:68317517
|
GAGAA | G | 2 | a0001c0001t0001g0069a0001c0001t0027g0072 | 2 | HG00099.hp1 HG00140.hp1 |
intron_variant | MODIFIER | c.155-18425_155-1842 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317517 | ||||||
| chrX:68317519
|
GAAAGAAA others(13): Show |
G | 17 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0077others(14): Show | 17 | HG00099.hp2 HG01081.hp1 HG01346.hp1 others(14): Show |
intron_variant | MODIFIER | c.155-18443_155-1842 others(24): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317519 | ||||||
| chrX:68317527
|
GAAAGAAA others(5): Show |
G | 4 | a0001c0001t0002g0133a0001c0001t0007g0022a0001c0001t0007g0033others(1): Show | 4 | HG00738.hp1 HG01891.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-18443_155-1843 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317527 | ||||||
| chrX:68317531
|
GAAAGAAA others(1): Show |
G | 18 | a0001c0001t0001g0071a0001c0001t0002g0019a0001c0001t0002g0021others(15): Show | 18 | HG00642.hp1 HG00735.hp2 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.155-18443_155-1843 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317531 | ||||||
| chrX:68317532
|
AAAGAAAA others(12): Show |
A | 1 | a0001c0001t0003g0139 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.155-18455_155-1843 others(23): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317532 | ||||||
| chrX:68317535
|
GAAAA | G | 2 | a0001c0001t0002g0126a0001c0001t0030g0155 | 2 | HG02895.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.155-18443_155-1844 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317535 | ||||||
| chrX:68317539
|
A | AAAAG | 8 | a0001c0001t0001g0044a0001c0001t0001g0048a0001c0001t0001g0080others(5): Show | 8 | HG02280.hp2 HG02451.hp2 HG02723.hp1 others(5): Show |
intron_variant | MODIFIER | c.155-18447_155-1844 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317539 | ||||||
| chrX:68317539
|
A | AAAAGAAA others(1): Show |
5 | a0001c0001t0001g0149a0001c0001t0004g0012a0001c0001t0004g0034others(2): Show | 5 | HG01167.hp1 HG01169.hp1 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-18451_155-1844 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317539 | ||||||
| chrX:68317539
|
A | AAAAGAAA others(5): Show |
3 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0021g0150 | 3 | HG01081.hp2 HG03471.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.155-18455_155-1844 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317539 | ||||||
| chrX:68317539
|
A | AAAAGAAA others(9): Show |
1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.155-18459_155-1844 others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317539 | ||||||
| chrX:68317539
|
A | G | 19 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(16): Show | 19 | HG01891.hp2 HG02109.hp1 HG02486.hp1 others(16): Show |
intron_variant | MODIFIER | c.155-18443T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317539 | ||||||
| chrX:68317539
|
AAAAG | A | 24 | a0001c0001t0001g0015a0001c0001t0001g0029a0001c0001t0001g0040others(21): Show | 24 | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-18447_155-1844 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317539 | ||||||
| chrX:68317539
|
AAAAGAAA others(1): Show |
A | 5 | a0001c0001t0001g0017a0001c0001t0001g0070a0001c0001t0001g0086others(2): Show | 5 | HG00735.hp1 HG02027.hp1 NA18971.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-18451_155-1844 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317539 | ||||||
| chrX:68317543
|
G | A | 16 | a0001c0001t0001g0071a0001c0001t0002g0019a0001c0001t0002g0021others(13): Show | 16 | HG00642.hp1 HG00735.hp2 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.155-18447C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317543 | ||||||
| chrX:68317547
|
G | A | 4 | a0001c0001t0002g0133a0001c0001t0007g0022a0001c0001t0007g0033others(1): Show | 4 | HG00738.hp1 HG01891.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-18451C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317547 | ||||||
| chrX:68317555
|
G | A | 18 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0077others(15): Show | 18 | HG00099.hp2 HG01081.hp1 HG01346.hp1 others(15): Show |
intron_variant | MODIFIER | c.155-18459C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317555 | ||||||
| chrX:68317565
|
AAGAAAGA others(3): Show |
A | 6 | a0001c0001t0002g0135a0001c0001t0003g0111a0001c0001t0003g0118others(3): Show | 6 | HG02486.hp1 HG02572.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.155-18479_155-1847 others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317565 | ||||||
| chrX:68317569
|
AAGAAAG | A | 3 | a0001c0001t0002g0116a0001c0001t0003g0109a0001c0001t0008g0112 | 3 | HG02615.hp1 HG02818.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.155-18479_155-1847 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317569 | ||||||
| chrX:68317573
|
A | G | 1 | a0001c0001t0006g0106 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.155-18477T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317573 | ||||||
| chrX:68317573
|
AAG | A | 4 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(1): Show | 4 | HG02809.hp2 HG02922.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-18479_155-1847 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317573 | ||||||
| chrX:68317575
|
G | GAA | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.155-18480_155-1847 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317575 | ||||||
| chrX:68317579
|
A | G | 3 | a0001c0001t0004g0004a0001c0001t0006g0105a0001c0001t0008g0096 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.155-18483T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317579 | ||||||
| chrX:68317584
|
AGAAAGAG others(4): Show |
A | 7 | a0001c0001t0002g0126a0001c0001t0002g0130a0001c0001t0002g0131others(4): Show | 7 | HG01891.hp2 HG02647.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.155-18499_155-1848 others(15): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317584 | ||||||
| chrX:68317587
|
A | G | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.155-18491T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317587 | ||||||
| chrX:68317588
|
AGAGAGAG | A | 3 | a0001c0001t0004g0004a0001c0001t0006g0105a0001c0001t0008g0096 | 3 | HG02109.hp1 HG02257.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.155-18499_155-1849 others(11): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317588 | ||||||
| chrX:68317593
|
G | A | 13 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(10): Show | 13 | HG02486.hp1 HG02572.hp1 HG02615.hp1 others(10): Show |
intron_variant | MODIFIER | c.155-18497C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317593 | ||||||
| chrX:68317599
|
G | A | 13 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(10): Show | 13 | HG02486.hp1 HG02572.hp1 HG02615.hp1 others(10): Show |
intron_variant | MODIFIER | c.155-18503C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317599 | ||||||
| chrX:68317599
|
GAAA | G | 10 | a0001c0001t0002g0126a0001c0001t0002g0130a0001c0001t0002g0131others(7): Show | 10 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.155-18506_155-1850 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317599 | ||||||
| chrX:68317602
|
A | AAAAG | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.155-18510_155-1850 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317602 | ||||||
| chrX:68317602
|
A | G | 13 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(10): Show | 13 | HG02486.hp1 HG02572.hp1 HG02615.hp1 others(10): Show |
intron_variant | MODIFIER | c.155-18506T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317602 | ||||||
| chrX:68317642
|
AAAG | A | 40 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0046others(37): Show | 40 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(37): Show |
intron_variant | MODIFIER | c.155-18549_155-1854 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317642 | ||||||
| chrX:68317667
|
A | AAGG | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.155-18574_155-1857 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317667 | ||||||
| chrX:68317709
|
GAAAGA | G | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.155-18618_155-1861 others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317709 | ||||||
| chrX:68317820
|
GAGGAAAT others(4): Show |
G | 21 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(18): Show | 21 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(18): Show |
intron_variant | MODIFIER | c.155-18735_155-1872 others(15): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317820 | ||||||
| chrX:68317876
|
C | T | 1 | a0001c0001t0001g0082 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.155-18780G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317876 | ||||||
| chrX:68317916
|
A | C | 3 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02109.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.155-18820T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68317916 | ||||||
| chrX:68318000
|
G | A | 2 | a0001c0001t0007g0022a0001c0001t0007g0033 | 2 | NA19030.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.155-18904C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68318000 | ||||||
| chrX:68318713
|
G | A | 32 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(29): Show | 32 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(29): Show |
intron_variant | MODIFIER | c.155-19617C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68318713 | ||||||
| chrX:68318818
|
C | T | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-19722G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68318818 | ||||||
| chrX:68319057
|
C | T | 1 | a0001c0001t0003g0113 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.155-19961G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68319057 | ||||||
| chrX:68319199
|
C | CA | 1 | a0001c0001t0001g0027 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.155-20104dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68319199 | ||||||
| chrX:68319442
|
G | GA | 2 | a0001c0001t0007g0022a0001c0001t0007g0033 | 2 | NA19030.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.155-20347dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68319442 | ||||||
| chrX:68319501
|
C | A | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.155-20405G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68319501 | ||||||
| chrX:68319510
|
T | C | 18 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(15): Show | 18 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(15): Show |
intron_variant | MODIFIER | c.155-20414A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68319510 | ||||||
| chrX:68319660
|
T | C | 5 | a0001c0001t0002g0021a0001c0001t0002g0133a0001c0001t0007g0022others(2): Show | 5 | HG01891.hp1 HG02257.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-20564A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68319660 | ||||||
| chrX:68319666
|
G | A | 5 | a0001c0001t0002g0021a0001c0001t0002g0133a0001c0001t0007g0022others(2): Show | 5 | HG01891.hp1 HG02257.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-20570C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68319666 | ||||||
| chrX:68319900
|
T | C | 1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.155-20804A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68319900 | ||||||
| chrX:68319902
|
C | CATATAAA others(28): Show |
1 | a0001c0001t0002g0047 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.155-20841_155-2080 others(39): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68319902 | ||||||
| chrX:68320350
|
A | G | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.155-21254T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68320350 | ||||||
| chrX:68320358
|
T | A | 2 | a0001c0001t0001g0040a0001c0001t0002g0047 | 2 | HG00673.hp1 NA18965.hp1 |
intron_variant | MODIFIER | c.155-21262A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68320358 | ||||||
| chrX:68320539
|
A | AC | 10 | a0001c0001t0001g0040a0001c0001t0001g0077a0001c0001t0002g0057others(7): Show | 10 | HG01192.hp1 HG01243.hp1 HG01255.hp1 others(7): Show |
intron_variant | MODIFIER | c.155-21444dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68320539 | ||||||
| chrX:68320708
|
T | C | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-21612A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68320708 | ||||||
| chrX:68321245
|
G | C | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-22149C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68321245 | ||||||
| chrX:68321377
|
C | T | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.155-22281G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68321377 | ||||||
| chrX:68321572
|
T | C | 154 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(151): Show | 154 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
intron_variant | MODIFIER | c.155-22476A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68321572 | ||||||
| chrX:68321576
|
G | GT | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.155-22481dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68321576 | ||||||
| chrX:68321612
|
G | A | 1 | a0001c0001t0003g0018 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.155-22516C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68321612 | ||||||
| chrX:68321656
|
G | A | 1 | a0001c0001t0003g0063 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.155-22560C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68321656 | ||||||
| chrX:68321759
|
CTCCACTA others(9): Show |
C | 1 | a0001c0003t0010g0085 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.155-22679_155-2266 others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68321759 | ||||||
| chrX:68321945
|
T | G | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.155-22849A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68321945 | ||||||
| chrX:68321964
|
T | TTTTTA | 74 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(71): Show | 74 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(71): Show |
intron_variant | MODIFIER | c.155-22873_155-2286 others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68321964 | ||||||
| chrX:68322029
|
T | C | 1 | a0001c0001t0005g0110 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.155-22933A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68322029 | ||||||
| chrX:68322125
|
T | C | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-23029A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68322125 | ||||||
| chrX:68322269
|
G | GC | 1 | a0001c0001t0003g0076 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.155-23174dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68322269 | ||||||
| chrX:68322330
|
TC | T | 1 | a0001c0001t0001g0027 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.155-23235delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68322330 | ||||||
| chrX:68322476
|
T | C | 1 | a0001c0001t0002g0133 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.155-23380A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68322476 | ||||||
| chrX:68322546
|
G | T | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.155-23450C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68322546 | ||||||
| chrX:68322766
|
G | GT | 1 | a0001c0001t0002g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.155-23671_155-2367 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68322766 | ||||||
| chrX:68322770
|
G | C | 1 | a0001c0001t0003g0113 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.155-23674C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68322770 | ||||||
| chrX:68322786
|
C | T | 3 | a0001c0001t0002g0116a0001c0001t0005g0110a0001c0001t0008g0112 | 3 | HG02818.hp2 HG03540.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.155-23690G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68322786 | ||||||
| chrX:68322896
|
A | T | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-23800T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68322896 | ||||||
| chrX:68322989
|
G | A | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-23893C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68322989 | ||||||
| chrX:68323369
|
CT | C | 1 | a0001c0001t0002g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.155-24274delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68323369 | ||||||
| chrX:68323379
|
A | G | 1 | a0001c0001t0007g0023 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.155-24283T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68323379 | ||||||
| chrX:68323559
|
A | G | 1 | a0001c0001t0003g0035 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.155-24463T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68323559 | ||||||
| chrX:68323869
|
GACAATAA others(26): Show |
G | 1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.155-24806_155-2477 others(37): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68323869 | ||||||
| chrX:68323886
|
G | T | 1 | a0001c0001t0002g0126 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.155-24790C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68323886 | ||||||
| chrX:68323989
|
C | T | 5 | a0001c0001t0002g0021a0001c0001t0002g0133a0001c0001t0007g0022others(2): Show | 5 | HG01891.hp1 HG02257.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-24893G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68323989 | ||||||
| chrX:68324102
|
CA | C | 1 | a0001c0001t0001g0027 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.155-25007delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324102 | ||||||
| chrX:68324200
|
G | GA | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.155-25105dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324200 | ||||||
| chrX:68324371
|
G | A | 7 | a0001c0001t0002g0115a0001c0001t0004g0026a0001c0001t0004g0030others(4): Show | 7 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.155-25275C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324371 | ||||||
| chrX:68324385
|
T | C | 21 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(18): Show | 21 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(18): Show |
intron_variant | MODIFIER | c.155-25289A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324385 | ||||||
| chrX:68324421
|
G | A | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-25325C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324421 | ||||||
| chrX:68324432
|
G | A | 1 | a0001c0001t0005g0110 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.155-25336C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324432 | ||||||
| chrX:68324446
|
T | TA | 30 | a0001c0001t0001g0098a0001c0001t0001g0147a0001c0001t0002g0014others(27): Show | 30 | HG01891.hp1 HG01891.hp2 HG01934.hp1 others(27): Show |
intron_variant | MODIFIER | c.155-25351dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324446 | ||||||
| chrX:68324446
|
T | TAA | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.155-25352_155-2535 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324446 | ||||||
| chrX:68324446
|
TA | T | 8 | a0001c0001t0001g0016a0001c0001t0001g0075a0001c0001t0002g0019others(5): Show | 8 | HG01169.hp2 HG01256.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.155-25351delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324446 | ||||||
| chrX:68324468
|
G | A | 3 | a0001c0001t0003g0151a0001c0001t0004g0094a0001c0001t0004g0095 | 3 | HG03209.hp1 HG03516.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.155-25372C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324468 | ||||||
| chrX:68324479
|
G | A | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.155-25383C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324479 | ||||||
| chrX:68324604
|
AC | A | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-25509delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324604 | ||||||
| chrX:68324613
|
C | CA | 6 | a0001c0001t0001g0009a0001c0001t0001g0062a0001c0001t0003g0122others(3): Show | 6 | HG02647.hp1 HG02886.hp2 HG04115.hp1 others(3): Show |
intron_variant | MODIFIER | c.155-25518dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324613 | ||||||
| chrX:68324613
|
CA | C | 5 | a0001c0001t0001g0029a0001c0001t0001g0075a0001c0001t0002g0054others(2): Show | 5 | HG02451.hp2 NA18906.hp1 NA18977.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-25518delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324613 | ||||||
| chrX:68324614
|
A | AG | 16 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(13): Show | 16 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(13): Show |
intron_variant | MODIFIER | c.155-25519_155-2551 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324614 | ||||||
| chrX:68324615
|
A | G | 5 | a0001c0001t0004g0004a0001c0001t0006g0013a0001c0001t0007g0032others(2): Show | 5 | HG02109.hp1 HG02257.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-25519T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324615 | ||||||
| chrX:68324628
|
AT | A | 5 | a0001c0001t0002g0133a0001c0001t0006g0013a0001c0001t0007g0022others(2): Show | 5 | HG01891.hp1 HG02559.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-25533delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324628 | ||||||
| chrX:68324629
|
T | A | 57 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(54): Show | 57 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(54): Show |
intron_variant | MODIFIER | c.155-25533A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324629 | ||||||
| chrX:68324763
|
TG | T | 1 | a0001c0001t0002g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.155-25668delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324763 | ||||||
| chrX:68324884
|
T | TA | 64 | a0001c0001t0001g0008a0001c0001t0001g0025a0001c0001t0001g0038others(61): Show | 64 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(61): Show |
intron_variant | MODIFIER | c.155-25789dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324884 | ||||||
| chrX:68324884
|
T | TAA | 2 | a0001c0001t0002g0126a0001c0001t0023g0037 | 2 | HG03225.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.155-25790_155-2578 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324884 | ||||||
| chrX:68324884
|
T | TAAA | 3 | a0001c0001t0001g0029a0001c0001t0007g0022a0001c0001t0007g0033 | 3 | NA18988.hp1 NA19030.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.155-25791_155-2578 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324884 | ||||||
| chrX:68324884
|
TA | T | 3 | a0001c0001t0001g0092a0001c0003t0010g0085a0004c0005t0012g0024 | 3 | HG01169.hp2 HG02735.hp1 NA18960.hp1 |
intron_variant | MODIFIER | c.155-25789delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324884 | ||||||
| chrX:68324915
|
G | C | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.155-25819C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324915 | ||||||
| chrX:68324941
|
C | T | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-25845G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324941 | ||||||
| chrX:68324957
|
C | G | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-25861G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324957 | ||||||
| chrX:68324958
|
G | A | 2 | a0001c0001t0001g0046a0004c0005t0012g0024 | 2 | HG01169.hp2 HG01928.hp1 |
intron_variant | MODIFIER | c.155-25862C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324958 | ||||||
| chrX:68324975
|
TG | T | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-25880delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68324975 | ||||||
| chrX:68325052
|
TA | T | 1 | a0001c0001t0002g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.155-25957delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325052 | ||||||
| chrX:68325135
|
T | TG | 1 | a0001c0001t0003g0076 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.155-26040dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325135 | ||||||
| chrX:68325159
|
T | C | 5 | a0001c0001t0002g0021a0001c0001t0002g0133a0001c0001t0007g0022others(2): Show | 5 | HG01891.hp1 HG02257.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-26063A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325159 | ||||||
| chrX:68325219
|
C | T | 2 | a0001c0001t0007g0022a0001c0001t0007g0033 | 2 | NA19030.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.155-26123G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325219 | ||||||
| chrX:68325255
|
G | GA | 1 | a0001c0001t0003g0076 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.155-26160dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325255 | ||||||
| chrX:68325338
|
C | CG | 1 | a0001c0001t0001g0025 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.155-26243dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325338 | ||||||
| chrX:68325417
|
G | GACACAGG others(14): Show |
1 | a0001c0001t0001g0025 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.155-26342_155-2632 others(25): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325417 | ||||||
| chrX:68325442
|
GA | G | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-26347delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325442 | ||||||
| chrX:68325504
|
AGATGTCT others(50): Show |
A | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-26465_155-2640 others(61): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325504 | ||||||
| chrX:68325581
|
CTTTTGGA others(2238): Show |
C | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-28730_155-2648 others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325581 | ||||||
| chrX:68325599
|
A | AGTCTCCC others(94): Show |
1 | a0001c0003t0010g0085 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.155-26504_155-2650 others(105): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325599 | ||||||
| chrX:68325600
|
G | GTCTCCC | 1 | a0001c0001t0003g0076 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.155-26510_155-2650 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325600 | ||||||
| chrX:68325611
|
C | CCT | 1 | a0001c0001t0001g0041 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.155-26517_155-2651 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325611 | ||||||
| chrX:68325611
|
C | CT | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-26516_155-2651 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325611 | ||||||
| chrX:68325611
|
CCT | C | 1 | a0001c0001t0001g0025 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.155-26517_155-2651 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325611 | ||||||
| chrX:68325615
|
T | TC | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-26520dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325615 | ||||||
| chrX:68325615
|
T | TCTC | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-26520_155-2651 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325615 | ||||||
| chrX:68325620
|
T | TCG | 1 | a0001c0001t0001g0027 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.155-26525_155-2652 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325620 | ||||||
| chrX:68325622
|
T | TC | 1 | a0001c0001t0001g0075 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.155-26527dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325622 | ||||||
| chrX:68325623
|
C | CCCT | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-26530_155-2652 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325623 | ||||||
| chrX:68325633
|
CT | C | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-26538delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325633 | ||||||
| chrX:68325634
|
T | TC | 1 | a0001c0001t0001g0027 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.155-26539dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325634 | ||||||
| chrX:68325639
|
T | TC | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.155-26544_155-2654 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325639 | ||||||
| chrX:68325639
|
T | TCTC | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-26544_155-2654 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325639 | ||||||
| chrX:68325640
|
T | C | 128 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(125): Show | 128 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(125): Show |
intron_variant | MODIFIER | c.155-26544A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325640 | ||||||
| chrX:68325641
|
T | C | 2 | a0001c0001t0002g0006a0001c0001t0002g0115 | 2 | HG02074.hp1 HG02145.hp1 |
intron_variant | MODIFIER | c.155-26545A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325641 | ||||||
| chrX:68325644
|
C | G | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-26548G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325644 | ||||||
| chrX:68325648
|
CCCGTTTC others(24): Show |
C | 1 | a0001c0001t0001g0075 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.155-26583_155-2655 others(35): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325648 | ||||||
| chrX:68325651
|
G | T | 2 | a0001c0001t0002g0057a0001c0003t0010g0085 | 2 | HG02735.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.155-26555C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325651 | ||||||
| chrX:68325652
|
T | C | 2 | a0001c0001t0002g0057a0001c0003t0010g0085 | 2 | HG02735.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.155-26556A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325652 | ||||||
| chrX:68325653
|
T | C | 127 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(124): Show | 127 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(124): Show |
intron_variant | MODIFIER | c.155-26557A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325653 | ||||||
| chrX:68325654
|
T | C | 2 | a0001c0001t0002g0057a0001c0003t0010g0085 | 2 | HG02735.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.155-26558A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325654 | ||||||
| chrX:68325657
|
G | C | 127 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(124): Show | 127 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(124): Show |
intron_variant | MODIFIER | c.155-26561C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325657 | ||||||
| chrX:68325659
|
T | C | 129 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(126): Show | 129 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(126): Show |
intron_variant | MODIFIER | c.155-26563A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325659 | ||||||
| chrX:68325663
|
CTTTCCGT others(107): Show |
C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.155-26681_155-2656 others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325663 | ||||||
| chrX:68325663
|
CTTTCCGT others(158): Show |
C | 1 | a0001c0001t0003g0020 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.155-26732_155-2656 others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325663 | ||||||
| chrX:68325664
|
T | TC | 124 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(121): Show | 124 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(121): Show |
intron_variant | MODIFIER | c.155-26569_155-2656 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325664 | ||||||
| chrX:68325664
|
T | TCTCCCTC | 2 | a0001c0001t0002g0006a0001c0003t0010g0085 | 2 | HG02074.hp1 HG02735.hp1 |
intron_variant | MODIFIER | c.155-26569_155-2656 others(11): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325664 | ||||||
| chrX:68325665
|
T | C | 1 | a0001c0001t0002g0057 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.155-26569A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325665 | ||||||
| chrX:68325666
|
T | C | 126 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(123): Show | 126 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
intron_variant | MODIFIER | c.155-26570A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325666 | ||||||
| chrX:68325669
|
G | C | 1 | a0001c0001t0002g0057 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.155-26573C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325669 | ||||||
| chrX:68325670
|
T | TC | 1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.155-26575_155-2657 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325670 | ||||||
| chrX:68325671
|
T | C | 126 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(123): Show | 126 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
intron_variant | MODIFIER | c.155-26575A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325671 | ||||||
| chrX:68325672
|
T | C | 1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.155-26576A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325672 | ||||||
| chrX:68325673
|
CCCTTTTC others(24): Show |
C | 1 | a0001c0001t0002g0057 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.155-26608_155-2657 others(35): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325673 | ||||||
| chrX:68325677
|
T | C | 126 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(123): Show | 126 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
intron_variant | MODIFIER | c.155-26581A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325677 | ||||||
| chrX:68325679
|
T | C | 126 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(123): Show | 126 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
intron_variant | MODIFIER | c.155-26583A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325679 | ||||||
| chrX:68325683
|
T | C | 127 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(124): Show | 127 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(124): Show |
intron_variant | MODIFIER | c.155-26587A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325683 | ||||||
| chrX:68325685
|
C | CCCTCT | 1 | a0001c0001t0018g0104 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.155-26590_155-2658 others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325685 | ||||||
| chrX:68325687
|
CGTTTTCC others(70): Show |
C | 29 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(26): Show | 29 | HG00642.hp1 HG01081.hp1 HG01243.hp1 others(26): Show |
intron_variant | MODIFIER | c.155-26668_155-2659 others(81): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325687 | ||||||
| chrX:68325687
|
CGTTTTCC others(89): Show |
C | 3 | a0001c0001t0002g0021a0001c0001t0003g0151a0001c0001t0005g0152 | 3 | HG02257.hp2 HG02630.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.155-26687_155-2659 others(100): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325687 | ||||||
| chrX:68325688
|
G | C | 3 | a0001c0001t0001g0027a0001c0001t0002g0006a0001c0001t0018g0104 | 3 | HG00280.hp1 HG02074.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.155-26592C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325688 | ||||||
| chrX:68325688
|
GT | G | 62 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0025others(59): Show | 62 | HG00140.hp1 HG00609.hp1 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.155-26593delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325688 | ||||||
| chrX:68325688
|
GTTTTCCT others(13): Show |
G | 5 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0080others(2): Show | 5 | HG00099.hp1 HG02145.hp1 HG03017.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-26612_155-2659 others(24): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325688 | ||||||
| chrX:68325688
|
GTTTTCCT others(32): Show |
G | 6 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(3): Show | 6 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.155-26631_155-2659 others(43): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325688 | ||||||
| chrX:68325688
|
GTTTTCCT others(51): Show |
G | 2 | a0001c0001t0003g0065a0001c0001t0003g0091 | 2 | HG00099.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.155-26650_155-2659 others(62): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325688 | ||||||
| chrX:68325689
|
T | G | 3 | a0001c0001t0001g0027a0001c0001t0002g0006a0001c0001t0018g0104 | 3 | HG00280.hp1 HG02074.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.155-26593A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325689 | ||||||
| chrX:68325689
|
T | TCC | 1 | a0001c0003t0010g0085 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.155-26594_155-2659 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325689 | ||||||
| chrX:68325689
|
T | TCTCCCTC others(11): Show |
10 | a0001c0001t0001g0039a0001c0001t0001g0043a0001c0001t0001g0052others(7): Show | 10 | HG02135.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.155-26594_155-2659 others(22): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325689 | ||||||
| chrX:68325689
|
T | TCTCCCTC others(68): Show |
1 | a0001c0003t0010g0089 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.155-26594_155-2659 others(79): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325689 | ||||||
| chrX:68325690
|
T | C | 6 | a0001c0001t0001g0029a0001c0001t0002g0019a0001c0001t0003g0018others(3): Show | 6 | HG00735.hp2 HG01192.hp1 HG02109.hp2 others(3): Show |
intron_variant | MODIFIER | c.155-26594A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325690 | ||||||
| chrX:68325691
|
T | C | 77 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0025others(74): Show | 77 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(74): Show |
intron_variant | MODIFIER | c.155-26595A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325691 | ||||||
| chrX:68325691
|
TTCCTTAT others(121): Show |
T | 3 | a0001c0001t0002g0019a0001c0001t0003g0018a0001c0001t0004g0005 | 3 | HG00735.hp2 HG02109.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.155-26723_155-2659 others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325691 | ||||||
| chrX:68325692
|
T | C | 2 | a0001c0001t0001g0029a0001c0001t0003g0076 | 2 | HG01192.hp1 NA18988.hp1 |
intron_variant | MODIFIER | c.155-26596A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325692 | ||||||
| chrX:68325694
|
CTTATCCG others(9): Show |
C | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-26614_155-2659 others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325694 | ||||||
| chrX:68325695
|
T | C | 76 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0025others(73): Show | 76 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(73): Show |
intron_variant | MODIFIER | c.155-26599A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325695 | ||||||
| chrX:68325696
|
T | C | 2 | a0001c0001t0001g0075a0001c0001t0003g0076 | 2 | HG01192.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.155-26600A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325696 | ||||||
| chrX:68325697
|
A | C | 77 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0025others(74): Show | 77 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(74): Show |
intron_variant | MODIFIER | c.155-26601T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325697 | ||||||
| chrX:68325697
|
A | T | 1 | a0001c0001t0003g0076 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.155-26601T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325697 | ||||||
| chrX:68325698
|
T | C | 1 | a0001c0001t0003g0076 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.155-26602A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325698 | ||||||
| chrX:68325701
|
G | C | 77 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0025others(74): Show | 77 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(74): Show |
intron_variant | MODIFIER | c.155-26605C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325701 | ||||||
| chrX:68325701
|
G | T | 1 | a0001c0001t0003g0076 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.155-26605C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325701 | ||||||
| chrX:68325702
|
T | C | 1 | a0001c0001t0003g0076 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.155-26606A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325702 | ||||||
| chrX:68325702
|
T | TC | 1 | a0001c0001t0001g0027 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.155-26607_155-2660 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325702 | ||||||
| chrX:68325703
|
T | C | 76 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0025others(73): Show | 76 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(73): Show |
intron_variant | MODIFIER | c.155-26607A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325703 | ||||||
| chrX:68325704
|
T | C | 2 | a0001c0001t0001g0027a0001c0001t0003g0076 | 2 | HG01192.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.155-26608A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325704 | ||||||
| chrX:68325707
|
G | C | 75 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0025others(72): Show | 75 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(72): Show |
intron_variant | MODIFIER | c.155-26611C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325707 | ||||||
| chrX:68325708
|
T | G | 75 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0025others(72): Show | 75 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(72): Show |
intron_variant | MODIFIER | c.155-26612A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325708 | ||||||
| chrX:68325709
|
T | C | 4 | a0001c0001t0001g0027a0001c0001t0002g0006a0001c0001t0002g0057others(1): Show | 4 | HG01192.hp1 HG02074.hp1 NA18994.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-26613A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325709 | ||||||
| chrX:68325710
|
T | C | 80 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(77): Show | 80 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(77): Show |
intron_variant | MODIFIER | c.155-26614A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325710 | ||||||
| chrX:68325711
|
T | C | 4 | a0001c0001t0001g0027a0001c0001t0002g0006a0001c0001t0002g0057others(1): Show | 4 | HG01192.hp1 HG02074.hp1 NA18994.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-26615A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325711 | ||||||
| chrX:68325713
|
CTTTT | C | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-26621_155-2661 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325713 | ||||||
| chrX:68325713
|
CTTTTCCT others(7): Show |
C | 1 | a0001c0001t0003g0076 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.155-26631_155-2661 others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325713 | ||||||
| chrX:68325714
|
T | C | 80 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(77): Show | 80 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(77): Show |
intron_variant | MODIFIER | c.155-26618A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325714 | ||||||
| chrX:68325714
|
T | G | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-26618A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325714 | ||||||
| chrX:68325715
|
T | C | 2 | a0001c0001t0001g0027a0001c0001t0002g0057 | 2 | NA18994.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.155-26619A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325715 | ||||||
| chrX:68325716
|
T | C | 81 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(78): Show | 81 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(78): Show |
intron_variant | MODIFIER | c.155-26620A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325716 | ||||||
| chrX:68325717
|
T | C | 2 | a0001c0001t0001g0027a0001c0001t0002g0057 | 2 | NA18994.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.155-26621A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325717 | ||||||
| chrX:68325717
|
T | TCCCTCTC others(1): Show |
1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-26622_155-2662 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325717 | ||||||
| chrX:68325720
|
T | C | 80 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(77): Show | 80 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(77): Show |
intron_variant | MODIFIER | c.155-26624A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325720 | ||||||
| chrX:68325721
|
T | C | 4 | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0002g0006others(1): Show | 4 | HG02074.hp1 NA18988.hp1 NA18994.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-26625A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325721 | ||||||
| chrX:68325722
|
T | C | 80 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(77): Show | 80 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(77): Show |
intron_variant | MODIFIER | c.155-26626A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325722 | ||||||
| chrX:68325723
|
T | C | 4 | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0002g0006others(1): Show | 4 | HG02074.hp1 NA18988.hp1 NA18994.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-26627A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325723 | ||||||
| chrX:68325726
|
G | C | 80 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(77): Show | 80 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(77): Show |
intron_variant | MODIFIER | c.155-26630C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325726 | ||||||
| chrX:68325726
|
GT | G | 2 | a0001c0001t0001g0029a0001c0001t0002g0057 | 2 | NA18988.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.155-26631delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325726 | ||||||
| chrX:68325727
|
T | G | 80 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(77): Show | 80 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(77): Show |
intron_variant | MODIFIER | c.155-26631A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325727 | ||||||
| chrX:68325728
|
T | C | 2 | a0001c0001t0001g0027a0001c0001t0002g0006 | 2 | HG02074.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.155-26632A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325728 | ||||||
| chrX:68325729
|
T | C | 89 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(86): Show | 89 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.155-26633A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325729 | ||||||
| chrX:68325730
|
T | C | 2 | a0001c0001t0001g0027a0001c0001t0002g0006 | 2 | HG02074.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.155-26634A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325730 | ||||||
| chrX:68325733
|
A | C | 89 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(86): Show | 89 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.155-26637T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325733 | ||||||
| chrX:68325733
|
A | T | 2 | a0001c0001t0001g0027a0001c0001t0002g0006 | 2 | HG02074.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.155-26637T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325733 | ||||||
| chrX:68325734
|
T | C | 2 | a0001c0001t0001g0027a0001c0001t0002g0006 | 2 | HG02074.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.155-26638A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325734 | ||||||
| chrX:68325735
|
T | C | 89 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(86): Show | 89 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.155-26639A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325735 | ||||||
| chrX:68325736
|
T | C | 2 | a0001c0001t0001g0027a0001c0001t0002g0006 | 2 | HG02074.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.155-26640A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325736 | ||||||
| chrX:68325739
|
T | C | 90 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(87): Show | 90 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(87): Show |
intron_variant | MODIFIER | c.155-26643A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325739 | ||||||
| chrX:68325740
|
T | C | 1 | a0001c0001t0001g0027 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.155-26644A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325740 | ||||||
| chrX:68325741
|
T | C | 90 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(87): Show | 90 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(87): Show |
intron_variant | MODIFIER | c.155-26645A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325741 | ||||||
| chrX:68325742
|
T | C | 1 | a0001c0001t0001g0027 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.155-26646A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325742 | ||||||
| chrX:68325745
|
A | C | 91 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(88): Show | 91 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(88): Show |
intron_variant | MODIFIER | c.155-26649T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325745 | ||||||
| chrX:68325746
|
T | G | 91 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(88): Show | 91 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(88): Show |
intron_variant | MODIFIER | c.155-26650A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325746 | ||||||
| chrX:68325748
|
A | C | 93 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(90): Show | 93 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(90): Show |
intron_variant | MODIFIER | c.155-26652T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325748 | ||||||
| chrX:68325752
|
A | C | 93 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(90): Show | 93 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(90): Show |
intron_variant | MODIFIER | c.155-26656T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325752 | ||||||
| chrX:68325754
|
A | C | 93 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(90): Show | 93 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(90): Show |
intron_variant | MODIFIER | c.155-26658T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325754 | ||||||
| chrX:68325758
|
T | C | 93 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(90): Show | 93 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(90): Show |
intron_variant | MODIFIER | c.155-26662A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325758 | ||||||
| chrX:68325760
|
G | C | 93 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(90): Show | 93 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(90): Show |
intron_variant | MODIFIER | c.155-26664C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325760 | ||||||
| chrX:68325764
|
G | C | 93 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(90): Show | 93 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(90): Show |
intron_variant | MODIFIER | c.155-26668C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325764 | ||||||
| chrX:68325767
|
G | C | 122 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(119): Show | 122 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(119): Show |
intron_variant | MODIFIER | c.155-26671C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325767 | ||||||
| chrX:68325771
|
T | C | 122 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(119): Show | 122 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(119): Show |
intron_variant | MODIFIER | c.155-26675A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325771 | ||||||
| chrX:68325773
|
T | C | 122 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(119): Show | 122 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(119): Show |
intron_variant | MODIFIER | c.155-26677A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325773 | ||||||
| chrX:68325777
|
G | C | 122 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(119): Show | 122 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(119): Show |
intron_variant | MODIFIER | c.155-26681C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325777 | ||||||
| chrX:68325779
|
G | C | 123 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(120): Show | 123 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show |
intron_variant | MODIFIER | c.155-26683C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325779 | ||||||
| chrX:68325780
|
T | TC | 2 | a0001c0001t0002g0006a0001c0001t0018g0104 | 2 | HG00280.hp1 HG02074.hp1 |
intron_variant | MODIFIER | c.155-26685dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325780 | ||||||
| chrX:68325783
|
G | C | 123 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(120): Show | 123 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show |
intron_variant | MODIFIER | c.155-26687C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325783 | ||||||
| chrX:68325786
|
A | C | 126 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(123): Show | 126 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
intron_variant | MODIFIER | c.155-26690T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325786 | ||||||
| chrX:68325787
|
T | TC | 1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.155-26692dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325787 | ||||||
| chrX:68325790
|
T | C | 126 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(123): Show | 126 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
intron_variant | MODIFIER | c.155-26694A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325790 | ||||||
| chrX:68325796
|
T | C | 126 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(123): Show | 126 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
intron_variant | MODIFIER | c.155-26700A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325796 | ||||||
| chrX:68325798
|
T | C | 126 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(123): Show | 126 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
intron_variant | MODIFIER | c.155-26702A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325798 | ||||||
| chrX:68325802
|
C | T | 3 | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0067 | 3 | HG02738.hp1 NA18945.hp1 NA18952.hp1 |
intron_variant | MODIFIER | c.155-26706G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325802 | ||||||
| chrX:68325802
|
CG | C | 1 | a0001c0001t0001g0058 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.155-26707delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325802 | ||||||
| chrX:68325805
|
A | C | 126 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(123): Show | 126 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
intron_variant | MODIFIER | c.155-26709T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325805 | ||||||
| chrX:68325808
|
C | CCG | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-26713_155-2671 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325808 | ||||||
| chrX:68325809
|
T | C | 125 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(122): Show | 125 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(122): Show |
intron_variant | MODIFIER | c.155-26713A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325809 | ||||||
| chrX:68325810
|
T | C | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-26714A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325810 | ||||||
| chrX:68325811
|
G | C | 126 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(123): Show | 126 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
intron_variant | MODIFIER | c.155-26715C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325811 | ||||||
| chrX:68325812
|
T | TC | 1 | a0001c0001t0002g0047 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.155-26717dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325812 | ||||||
| chrX:68325814
|
C | CCT | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-26719_155-2671 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325814 | ||||||
| chrX:68325814
|
CA | C | 1 | a0001c0001t0001g0058 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.155-26719delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325814 | ||||||
| chrX:68325815
|
A | C | 125 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(122): Show | 125 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(122): Show |
intron_variant | MODIFIER | c.155-26719T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325815 | ||||||
| chrX:68325816
|
T | C | 1 | a0001c0001t0001g0058 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.155-26720A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325816 | ||||||
| chrX:68325817
|
G | C | 125 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(122): Show | 125 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(122): Show |
intron_variant | MODIFIER | c.155-26721C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325817 | ||||||
| chrX:68325818
|
T | TC | 2 | a0001c0001t0001g0029a0001c0001t0001g0098 | 2 | NA18955.hp1 NA18988.hp1 |
intron_variant | MODIFIER | c.155-26723dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325818 | ||||||
| chrX:68325819
|
C | CT | 1 | a0001c0001t0001g0058 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.155-26724_155-2672 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325819 | ||||||
| chrX:68325820
|
CCGTGTCC others(1): Show |
C | 1 | a0001c0001t0002g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.155-26732_155-2672 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325820 | ||||||
| chrX:68325821
|
CGTGTCCA others(6): Show |
C | 33 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(30): Show | 33 | HG00099.hp2 HG00642.hp1 HG01081.hp1 others(30): Show |
intron_variant | MODIFIER | c.155-26738_155-2672 others(17): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325821 | ||||||
| chrX:68325822
|
G | C | 4 | a0001c0001t0001g0058a0001c0001t0002g0019a0001c0001t0003g0018others(1): Show | 4 | HG00735.hp2 HG02109.hp2 HG02129.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-26726C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325822 | ||||||
| chrX:68325822
|
G | GTCTCCCT others(12): Show |
4 | a0001c0001t0001g0025a0001c0001t0001g0048a0001c0001t0001g0064others(1): Show | 4 | HG01515.hp1 HG02300.hp1 HG02738.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-26727_155-2672 others(23): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325822 | ||||||
| chrX:68325824
|
G | C | 95 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(92): Show | 95 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(92): Show |
intron_variant | MODIFIER | c.155-26728C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325824 | ||||||
| chrX:68325828
|
A | C | 95 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(92): Show | 95 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(92): Show |
intron_variant | MODIFIER | c.155-26732T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325828 | ||||||
| chrX:68325830
|
G | C | 97 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(94): Show | 97 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(94): Show |
intron_variant | MODIFIER | c.155-26734C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325830 | ||||||
| chrX:68325833
|
CA | C | 1 | a0001c0001t0002g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.155-26738delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325833 | ||||||
| chrX:68325834
|
A | C | 96 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(93): Show | 96 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(93): Show |
intron_variant | MODIFIER | c.155-26738T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325834 | ||||||
| chrX:68325835
|
G | T | 2 | a0001c0001t0001g0075a0001c0001t0002g0057 | 2 | NA18977.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.155-26739C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325835 | ||||||
| chrX:68325836
|
T | C | 2 | a0001c0001t0001g0075a0001c0001t0002g0057 | 2 | NA18977.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.155-26740A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325836 | ||||||
| chrX:68325837
|
G | C | 128 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(125): Show | 128 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(125): Show |
intron_variant | MODIFIER | c.155-26741C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325837 | ||||||
| chrX:68325837
|
G | T | 2 | a0001c0001t0001g0075a0001c0001t0002g0057 | 2 | NA18977.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.155-26741C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325837 | ||||||
| chrX:68325838
|
T | C | 2 | a0001c0001t0001g0075a0001c0001t0002g0057 | 2 | NA18977.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.155-26742A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325838 | ||||||
| chrX:68325841
|
A | C | 128 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(125): Show | 128 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(125): Show |
intron_variant | MODIFIER | c.155-26745T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325841 | ||||||
| chrX:68325841
|
A | G | 2 | a0001c0001t0001g0075a0001c0001t0002g0057 | 2 | NA18977.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.155-26745T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325841 | ||||||
| chrX:68325843
|
A | C | 130 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(127): Show | 130 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
intron_variant | MODIFIER | c.155-26747T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325843 | ||||||
| chrX:68325847
|
A | C | 130 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(127): Show | 130 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
intron_variant | MODIFIER | c.155-26751T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325847 | ||||||
| chrX:68325854
|
G | GTCTCCC | 1 | a0001c0001t0001g0027 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.155-26759_155-2675 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325854 | ||||||
| chrX:68325860
|
A | C | 130 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(127): Show | 130 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
intron_variant | MODIFIER | c.155-26764T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325860 | ||||||
| chrX:68325862
|
A | C | 130 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(127): Show | 130 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
intron_variant | MODIFIER | c.155-26766T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325862 | ||||||
| chrX:68325865
|
C | CCT | 1 | a0001c0001t0002g0057 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.155-26770_155-2676 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325865 | ||||||
| chrX:68325866
|
A | C | 130 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(127): Show | 130 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
intron_variant | MODIFIER | c.155-26770T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325866 | ||||||
| chrX:68325872
|
A | C | 130 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(127): Show | 130 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
intron_variant | MODIFIER | c.155-26776T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325872 | ||||||
| chrX:68325876
|
T | TC | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-26781dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325876 | ||||||
| chrX:68325879
|
G | C | 130 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(127): Show | 130 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
intron_variant | MODIFIER | c.155-26783C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325879 | ||||||
| chrX:68325881
|
G | C | 130 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(127): Show | 130 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
intron_variant | MODIFIER | c.155-26785C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325881 | ||||||
| chrX:68325885
|
A | C | 130 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(127): Show | 130 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
intron_variant | MODIFIER | c.155-26789T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325885 | ||||||
| chrX:68325892
|
G | GT | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-26797dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325892 | ||||||
| chrX:68325894
|
G | C | 130 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(127): Show | 130 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
intron_variant | MODIFIER | c.155-26798C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325894 | ||||||
| chrX:68325895
|
T | TTCCTC | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-26800_155-2679 others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325895 | ||||||
| chrX:68325898
|
A | C | 130 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(127): Show | 130 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
intron_variant | MODIFIER | c.155-26802T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325898 | ||||||
| chrX:68325918
|
C | G | 2 | a0001c0001t0002g0021a0001c0001t0007g0023 | 2 | HG02257.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.155-26822G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325918 | ||||||
| chrX:68325919
|
A | G | 2 | a0001c0001t0002g0021a0001c0001t0007g0023 | 2 | HG02257.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.155-26823T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325919 | ||||||
| chrX:68325921
|
A | AGAGT | 1 | a0001c0001t0002g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.155-26826_155-2682 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325921 | ||||||
| chrX:68325933
|
C | CT | 2 | a0001c0001t0001g0075a0001c0001t0002g0006 | 2 | HG02074.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.155-26838dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325933 | ||||||
| chrX:68325934
|
T | TC | 1 | a0001c0001t0001g0140 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.155-26839_155-2683 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325934 | ||||||
| chrX:68325960
|
T | TC | 1 | a0001c0001t0001g0141 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.155-26865dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325960 | ||||||
| chrX:68325960
|
TC | T | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-26865delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325960 | ||||||
| chrX:68325990
|
T | C | 39 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(36): Show | 39 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(36): Show |
intron_variant | MODIFIER | c.155-26894A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325990 | ||||||
| chrX:68325992
|
A | AG | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-26897dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325992 | ||||||
| chrX:68325995
|
G | GC | 1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.155-26900dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325995 | ||||||
| chrX:68325996
|
C | T | 1 | a0001c0001t0001g0097 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.155-26900G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68325996 | ||||||
| chrX:68326018
|
G | GC | 1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.155-26923dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326018 | ||||||
| chrX:68326038
|
G | GT | 12 | a0001c0001t0001g0027a0001c0001t0001g0079a0001c0001t0001g0147others(9): Show | 12 | HG00280.hp1 HG00673.hp1 HG01255.hp1 others(9): Show |
intron_variant | MODIFIER | c.155-26943dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326038 | ||||||
| chrX:68326038
|
G | GTA | 1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.155-26943_155-2694 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326038 | ||||||
| chrX:68326040
|
T | A | 1 | a0001c0001t0001g0097 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.155-26944A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326040 | ||||||
| chrX:68326048
|
G | T | 1 | a0001c0003t0010g0085 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.155-26952C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326048 | ||||||
| chrX:68326049
|
G | GT | 1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.155-26954dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326049 | ||||||
| chrX:68326124
|
T | TC | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-27029dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326124 | ||||||
| chrX:68326149
|
G | A | 1 | a0001c0001t0003g0076 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.155-27053C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326149 | ||||||
| chrX:68326160
|
A | AC | 1 | a0001c0003t0010g0085 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.155-27065dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326160 | ||||||
| chrX:68326161
|
C | CG | 1 | a0001c0001t0001g0077 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.155-27066_155-2706 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326161 | ||||||
| chrX:68326218
|
A | ACCT | 3 | a0001c0001t0002g0019a0001c0001t0003g0018a0001c0001t0003g0020 | 3 | HG02109.hp2 HG02280.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.155-27123_155-2712 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326218 | ||||||
| chrX:68326246
|
C | CT | 1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.155-27151_155-2715 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326246 | ||||||
| chrX:68326253
|
A | T | 3 | a0001c0001t0002g0019a0001c0001t0003g0018a0001c0001t0003g0020 | 3 | HG02109.hp2 HG02280.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.155-27157T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326253 | ||||||
| chrX:68326266
|
G | GC | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-27171dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326266 | ||||||
| chrX:68326277
|
G | GC | 1 | a0001c0001t0004g0034 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.155-27182dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326277 | ||||||
| chrX:68326282
|
C | CCA | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-27187_155-2718 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326282 | ||||||
| chrX:68326283
|
A | AC | 25 | a0001c0001t0001g0008a0001c0001t0001g0028a0001c0001t0001g0038others(22): Show | 25 | HG00621.hp1 HG00673.hp1 HG01081.hp2 others(22): Show |
intron_variant | MODIFIER | c.155-27188dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326283 | ||||||
| chrX:68326283
|
A | ACC | 2 | a0001c0001t0007g0022a0001c0001t0007g0033 | 2 | NA19030.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.155-27189_155-2718 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326283 | ||||||
| chrX:68326283
|
A | C | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-27187T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326283 | ||||||
| chrX:68326283
|
ACC | A | 1 | a0001c0001t0002g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.155-27189_155-2718 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326283 | ||||||
| chrX:68326284
|
C | CCA | 1 | a0001c0001t0001g0066 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.155-27189_155-2718 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326284 | ||||||
| chrX:68326291
|
T | TCGC | 1 | a0001c0001t0002g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.155-27196_155-2719 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326291 | ||||||
| chrX:68326292
|
G | T | 1 | a0001c0001t0002g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.155-27196C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326292 | ||||||
| chrX:68326320
|
AC | A | 1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.155-27225delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326320 | ||||||
| chrX:68326343
|
G | GC | 1 | a0001c0001t0001g0077 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.155-27248dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326343 | ||||||
| chrX:68326388
|
G | GC | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-27293dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326388 | ||||||
| chrX:68326391
|
C | CG | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-27296dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326391 | ||||||
| chrX:68326393
|
G | GT | 1 | a0001c0001t0001g0077 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.155-27298_155-2729 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326393 | ||||||
| chrX:68326393
|
GC | G | 1 | a0001c0001t0001g0141 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.155-27298delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326393 | ||||||
| chrX:68326400
|
T | TC | 1 | a0001c0001t0002g0047 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.155-27305dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326400 | ||||||
| chrX:68326404
|
G | A | 45 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(42): Show | 45 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(42): Show |
intron_variant | MODIFIER | c.155-27308C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326404 | ||||||
| chrX:68326407
|
T | TG | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-27312_155-2731 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326407 | ||||||
| chrX:68326414
|
C | CGA | 1 | a0001c0003t0010g0085 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.155-27320_155-2731 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326414 | ||||||
| chrX:68326428
|
T | TC | 2 | a0001c0001t0001g0029a0001c0001t0002g0006 | 2 | HG02074.hp1 NA18988.hp1 |
intron_variant | MODIFIER | c.155-27333dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326428 | ||||||
| chrX:68326440
|
T | TC | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-27345dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326440 | ||||||
| chrX:68326468
|
G | GC | 1 | a0001c0001t0003g0076 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.155-27373dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326468 | ||||||
| chrX:68326471
|
C | CG | 2 | a0001c0001t0001g0029a0001c0001t0002g0006 | 2 | HG02074.hp1 NA18988.hp1 |
intron_variant | MODIFIER | c.155-27376dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326471 | ||||||
| chrX:68326473
|
G | GC | 2 | a0001c0001t0001g0098a0001c0001t0024g0007 | 2 | NA18955.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.155-27378dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326473 | ||||||
| chrX:68326476
|
G | GC | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-27381dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326476 | ||||||
| chrX:68326476
|
GC | G | 1 | a0001c0001t0002g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.155-27381delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326476 | ||||||
| chrX:68326502
|
CCTCT | C | 1 | a0001c0001t0002g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.155-27410_155-2740 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326502 | ||||||
| chrX:68326546
|
T | TG | 1 | a0001c0001t0001g0077 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.155-27451dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326546 | ||||||
| chrX:68326551
|
C | T | 3 | a0001c0001t0004g0030a0001c0001t0004g0034a0001c0001t0021g0150 | 3 | HG01081.hp2 HG02055.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.155-27455G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326551 | ||||||
| chrX:68326616
|
C | T | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.155-27520G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326616 | ||||||
| chrX:68326632
|
G | GC | 128 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(125): Show | 128 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(125): Show |
intron_variant | MODIFIER | c.155-27537dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326632 | ||||||
| chrX:68326632
|
G | GCC | 2 | a0001c0001t0002g0123a0001c0001t0024g0007 | 2 | HG02027.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.155-27538_155-2753 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326632 | ||||||
| chrX:68326652
|
G | GC | 129 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(126): Show | 129 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(126): Show |
intron_variant | MODIFIER | c.155-27557dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326652 | ||||||
| chrX:68326652
|
G | GCC | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-27558_155-2755 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326652 | ||||||
| chrX:68326670
|
A | AC | 3 | a0001c0001t0001g0029a0001c0001t0001g0141a0001c0001t0002g0006 | 3 | HG01074.hp1 HG02074.hp1 NA18988.hp1 |
intron_variant | MODIFIER | c.155-27575dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326670 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(621): Show |
1 | a0001c0001t0017g0036 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(632): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(626): Show |
1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(637): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(632): Show |
1 | a0001c0001t0018g0104 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(643): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(642): Show |
1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(653): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(624): Show |
1 | a0001c0001t0002g0057 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(635): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(624): Show |
1 | a0001c0001t0024g0007 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(635): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(294): Show |
1 | a0001c0001t0003g0139 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(305): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(673): Show |
1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(684): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(627): Show |
1 | a0001c0001t0001g0027 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(638): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(622): Show |
1 | a0001c0001t0001g0093 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(633): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(615): Show |
1 | a0001c0001t0002g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(626): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(632): Show |
1 | a0001c0001t0002g0047 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(643): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(632): Show |
1 | a0001c0001t0001g0141 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(643): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(630): Show |
1 | a0001c0001t0001g0090 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(641): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(628): Show |
1 | a0001c0001t0013g0042 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.155-27627_155-2762 others(639): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(626): Show |
1 | a0001c0001t0001g0079 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(637): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(632): Show |
1 | a0001c0001t0001g0050 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(643): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(625): Show |
2 | a0001c0001t0001g0025a0001c0001t0003g0100 | 2 | HG01106.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.155-27627_155-2762 others(636): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(625): Show |
1 | a0001c0001t0001g0086 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(636): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(624): Show |
1 | a0001c0001t0003g0081 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(635): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(624): Show |
5 | a0001c0001t0001g0039a0001c0001t0001g0046a0001c0001t0001g0058others(2): Show | 5 | HG01928.hp1 HG02129.hp1 HG02698.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-27627_155-2762 others(635): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(625): Show |
1 | a0001c0001t0001g0154 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(636): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(624): Show |
1 | a0001c0001t0001g0082 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(635): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(624): Show |
1 | a0001c0001t0001g0040 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(635): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(623): Show |
6 | a0001c0001t0001g0028a0001c0001t0001g0060a0001c0001t0001g0062others(3): Show | 6 | HG02015.hp1 HG02056.hp1 HG02083.hp1 others(3): Show |
intron_variant | MODIFIER | c.155-27627_155-2762 others(634): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(623): Show |
1 | a0001c0001t0002g0123 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(634): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(626): Show |
1 | a0001c0001t0001g0048 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(637): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(622): Show |
2 | a0001c0001t0002g0055a0001c0003t0010g0089 | 2 | HG03688.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.155-27627_155-2762 others(633): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(623): Show |
1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.155-27627_155-2762 others(634): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(622): Show |
1 | a0001c0003t0010g0085 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(633): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(621): Show |
9 | a0001c0001t0001g0017a0001c0001t0001g0067a0001c0001t0001g0068others(6): Show | 9 | HG00099.hp1 HG01069.hp1 HG01099.hp1 others(6): Show |
intron_variant | MODIFIER | c.155-27627_155-2762 others(632): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(621): Show |
1 | a0001c0001t0001g0153 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(632): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(622): Show |
1 | a0001c0001t0001g0059 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(633): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(621): Show |
1 | a0001c0001t0001g0080 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(632): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(621): Show |
1 | a0002c0002t0001g0002 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(632): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(620): Show |
12 | a0001c0001t0001g0016a0001c0001t0001g0043a0001c0001t0001g0045others(9): Show | 12 | HG00140.hp1 HG01256.hp1 HG01258.hp1 others(9): Show |
intron_variant | MODIFIER | c.155-27627_155-2762 others(631): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(621): Show |
1 | a0001c0001t0001g0066 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(632): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(620): Show |
1 | a0001c0001t0001g0051 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(631): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(619): Show |
4 | a0001c0001t0001g0015a0001c0001t0001g0041a0001c0001t0028g0084others(1): Show | 4 | NA19004.hp1 NA19007.hp1 NA19070.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-27627_155-2762 others(630): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(619): Show |
2 | a0001c0001t0001g0044a0001c0001t0004g0010 | 2 | HG02451.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.155-27627_155-2762 others(630): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(618): Show |
6 | a0001c0001t0001g0009a0001c0001t0001g0049a0001c0001t0001g0092others(3): Show | 6 | HG02886.hp1 NA18945.hp1 NA18960.hp1 others(3): Show |
intron_variant | MODIFIER | c.155-27627_155-2762 others(629): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(617): Show |
3 | a0001c0001t0004g0011a0001c0001t0004g0012a0001c0001t0007g0023 | 3 | HG02280.hp2 HG02559.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.155-27627_155-2762 others(628): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(617): Show |
1 | a0001c0001t0003g0101 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(628): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(616): Show |
1 | a0001c0001t0002g0021 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.155-27627_155-2762 others(627): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(517): Show |
1 | a0001c0001t0002g0133 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(528): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(517): Show |
2 | a0001c0001t0007g0022a0001c0001t0007g0033 | 2 | NA19030.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.155-27627_155-2762 others(528): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(606): Show |
1 | a0001c0001t0004g0030 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.155-27627_155-2762 others(617): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(605): Show |
1 | a0001c0001t0004g0034 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(616): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(605): Show |
1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(616): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(605): Show |
1 | a0001c0001t0021g0150 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(616): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(603): Show |
2 | a0001c0001t0004g0026a0001c0001t0006g0120 | 2 | HG01169.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.155-27627_155-2762 others(614): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(602): Show |
1 | a0001c0001t0006g0121 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(613): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326722
|
A | AGGGAGGT others(619): Show |
1 | a0001c0001t0015g0148 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.155-27627_155-2762 others(630): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326722 | ||||||
| chrX:68326723
|
A | G | 34 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(31): Show | 34 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(31): Show |
intron_variant | MODIFIER | c.155-27627T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326723 | ||||||
| chrX:68326726
|
A | G | 96 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(93): Show | 96 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(93): Show |
intron_variant | MODIFIER | c.155-27630T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326726 | ||||||
| chrX:68326726
|
AC | A | 2 | a0001c0001t0001g0098a0001c0001t0003g0076 | 2 | HG01192.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.155-27631delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326726 | ||||||
| chrX:68326727
|
C | A | 96 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(93): Show | 96 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(93): Show |
intron_variant | MODIFIER | c.155-27631G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326727 | ||||||
| chrX:68326727
|
C | G | 32 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(29): Show | 32 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(29): Show |
intron_variant | MODIFIER | c.155-27631G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326727 | ||||||
| chrX:68326729
|
G | T | 32 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(29): Show | 32 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(29): Show |
intron_variant | MODIFIER | c.155-27633C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326729 | ||||||
| chrX:68326730
|
T | G | 32 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(29): Show | 32 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(29): Show |
intron_variant | MODIFIER | c.155-27634A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326730 | ||||||
| chrX:68326730
|
T | TGGGGGGG others(634): Show |
1 | a0001c0001t0003g0076 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.155-27635_155-2763 others(645): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326730 | ||||||
| chrX:68326730
|
T | TGGGGGGG others(635): Show |
1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.155-27635_155-2763 others(646): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326730 | ||||||
| chrX:68326737
|
A | G | 33 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(30): Show | 33 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(30): Show |
intron_variant | MODIFIER | c.155-27641T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326737 | ||||||
| chrX:68326741
|
G | GC | 127 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(124): Show | 127 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(124): Show |
intron_variant | MODIFIER | c.155-27646dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326741 | ||||||
| chrX:68326741
|
G | GCCCCCCG others(291): Show |
1 | a0001c0001t0005g0138 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.155-27646_155-2764 others(302): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326741 | ||||||
| chrX:68326741
|
G | GCCCCCCG others(516): Show |
1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.155-27646_155-2764 others(527): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326741 | ||||||
| chrX:68326746
|
T | C | 32 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(29): Show | 32 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(29): Show |
intron_variant | MODIFIER | c.155-27650A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326746 | ||||||
| chrX:68326750
|
T | C | 30 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(27): Show | 30 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(27): Show |
intron_variant | MODIFIER | c.155-27654A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326750 | ||||||
| chrX:68326757
|
G | C | 130 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(127): Show | 130 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
intron_variant | MODIFIER | c.155-27661C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326757 | ||||||
| chrX:68326759
|
G | GC | 2 | a0001c0001t0001g0051a0001c0001t0024g0007 | 2 | HG00621.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.155-27664dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326759 | ||||||
| chrX:68326767
|
C | CG | 129 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(126): Show | 129 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(126): Show |
intron_variant | MODIFIER | c.155-27672dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326767 | ||||||
| chrX:68326769
|
G | GGA | 1 | a0001c0001t0001g0141 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.155-27674_155-2767 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326769 | ||||||
| chrX:68326770
|
A | G | 1 | a0001c0001t0001g0141 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.155-27674T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326770 | ||||||
| chrX:68326779
|
G | GC | 129 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(126): Show | 129 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(126): Show |
intron_variant | MODIFIER | c.155-27684_155-2768 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326779 | ||||||
| chrX:68326779
|
G | GGC | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-27685_155-2768 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326779 | ||||||
| chrX:68326780
|
G | T | 30 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(27): Show | 30 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(27): Show |
intron_variant | MODIFIER | c.155-27684C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326780 | ||||||
| chrX:68326786
|
G | GC | 3 | a0001c0001t0001g0066a0001c0001t0002g0006a0001c0001t0002g0115 | 3 | HG02074.hp1 HG02145.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.155-27691dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326786 | ||||||
| chrX:68326814
|
A | AC | 2 | a0001c0001t0001g0048a0001c0001t0001g0154 | 2 | HG02738.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.155-27719dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326814 | ||||||
| chrX:68326814
|
A | AG | 32 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(29): Show | 32 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(29): Show |
intron_variant | MODIFIER | c.155-27719_155-2771 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326814 | ||||||
| chrX:68326822
|
G | GC | 1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.155-27727dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326822 | ||||||
| chrX:68326840
|
T | C | 2 | a0001c0001t0003g0139a0001c0001t0005g0138 | 2 | HG02258.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.155-27744A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326840 | ||||||
| chrX:68326843
|
G | A | 2 | a0001c0001t0003g0139a0001c0001t0005g0138 | 2 | HG02258.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.155-27747C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326843 | ||||||
| chrX:68326853
|
T | C | 30 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(27): Show | 30 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(27): Show |
intron_variant | MODIFIER | c.155-27757A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326853 | ||||||
| chrX:68326853
|
TG | T | 2 | a0001c0001t0001g0090a0001c0001t0003g0139 | 2 | HG01433.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.155-27758delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326853 | ||||||
| chrX:68326854
|
G | GGGGGGGG others(337): Show |
1 | a0001c0001t0002g0134 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.155-27759_155-2775 others(348): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326854 | ||||||
| chrX:68326860
|
G | GGGGGGGG others(463): Show |
1 | a0001c0001t0003g0018 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.155-27765_155-2776 others(474): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326860 | ||||||
| chrX:68326860
|
G | GGGGGGGG others(462): Show |
2 | a0001c0001t0002g0019a0001c0001t0003g0020 | 2 | HG02109.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.155-27765_155-2776 others(473): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326860 | ||||||
| chrX:68326860
|
G | GGGGGGGG others(462): Show |
1 | a0001c0001t0001g0145 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.155-27765_155-2776 others(473): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326860 | ||||||
| chrX:68326860
|
G | GGGGGGGG others(461): Show |
7 | a0001c0001t0001g0071a0001c0001t0001g0077a0001c0001t0002g0125others(4): Show | 7 | HG00642.hp1 HG01255.hp1 HG02071.hp1 others(4): Show |
intron_variant | MODIFIER | c.155-27765_155-2776 others(472): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326860 | ||||||
| chrX:68326860
|
G | GGGGGGGG others(461): Show |
1 | a0001c0001t0009g0129 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.155-27765_155-2776 others(472): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326860 | ||||||
| chrX:68326860
|
G | GGGGGGGT others(461): Show |
1 | a0001c0001t0001g0140 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.155-27765_155-2776 others(472): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326860 | ||||||
| chrX:68326860
|
G | GGGGGGGT others(462): Show |
1 | a0001c0001t0001g0038 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.155-27765_155-2776 others(473): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326860 | ||||||
| chrX:68326860
|
G | GGGGGGGT others(460): Show |
2 | a0001c0001t0001g0008a0001c0001t0022g0103 | 2 | HG01081.hp1 HG01346.hp1 |
intron_variant | MODIFIER | c.155-27765_155-2776 others(471): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326860 | ||||||
| chrX:68326860
|
G | GGGGGGGT others(461): Show |
1 | a0001c0001t0023g0037 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.155-27765_155-2776 others(472): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326860 | ||||||
| chrX:68326860
|
G | GGGGGGGT others(460): Show |
9 | a0001c0001t0001g0143a0001c0001t0002g0124a0001c0001t0002g0144others(6): Show | 9 | HG00735.hp2 HG02132.hp1 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.155-27765_155-2776 others(471): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326860 | ||||||
| chrX:68326860
|
G | GGGGGGTC others(460): Show |
1 | a0001c0001t0001g0146 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.155-27765_155-2776 others(471): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326860 | ||||||
| chrX:68326860
|
G | GGGGGGTC others(459): Show |
2 | a0001c0001t0003g0091a0001c0001t0003g0151 | 2 | HG00099.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.155-27765_155-2776 others(470): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326860 | ||||||
| chrX:68326863
|
C | G | 29 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(26): Show | 29 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(26): Show |
intron_variant | MODIFIER | c.155-27767G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326863 | ||||||
| chrX:68326865
|
G | GC | 1 | a0001c0001t0024g0007 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.155-27770dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326865 | ||||||
| chrX:68326865
|
G | GGAC | 29 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(26): Show | 29 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(26): Show |
intron_variant | MODIFIER | c.155-27770_155-2776 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326865 | ||||||
| chrX:68326869
|
C | T | 29 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(26): Show | 29 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(26): Show |
intron_variant | MODIFIER | c.155-27773G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326869 | ||||||
| chrX:68326871
|
C | CCG | 1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.155-27776_155-2777 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326871 | ||||||
| chrX:68326871
|
C | CGCCTGGC others(168): Show |
2 | a0001c0001t0003g0139a0001c0001t0005g0138 | 2 | HG02258.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.155-27776_155-2777 others(179): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326871 | ||||||
| chrX:68326871
|
C | T | 29 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(26): Show | 29 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(26): Show |
intron_variant | MODIFIER | c.155-27775G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326871 | ||||||
| chrX:68326887
|
C | T | 1 | a0001c0001t0002g0134 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.155-27791G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326887 | ||||||
| chrX:68326900
|
A | G | 1 | a0001c0001t0002g0134 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.155-27804T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326900 | ||||||
| chrX:68326903
|
T | A | 1 | a0001c0001t0002g0134 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.155-27807A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326903 | ||||||
| chrX:68326910
|
A | G | 1 | a0001c0001t0002g0134 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.155-27814T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326910 | ||||||
| chrX:68326918
|
C | T | 1 | a0001c0001t0013g0042 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.155-27822G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326918 | ||||||
| chrX:68326933
|
G | GC | 1 | a0001c0001t0001g0153 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.155-27838dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326933 | ||||||
| chrX:68326934
|
C | T | 2 | a0001c0001t0001g0068a0001c0001t0001g0073 | 2 | NA19066.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.155-27838G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326934 | ||||||
| chrX:68326956
|
G | GCCTCTGC others(155): Show |
1 | a0001c0001t0002g0134 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.155-27861_155-2786 others(166): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326956 | ||||||
| chrX:68326962
|
G | GC | 2 | a0001c0001t0001g0044a0001c0001t0003g0076 | 2 | HG01192.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.155-27867dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326962 | ||||||
| chrX:68326970
|
G | GC | 1 | a0001c0001t0001g0075 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.155-27875dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326970 | ||||||
| chrX:68326990
|
A | AC | 2 | a0001c0001t0001g0029a0001c0001t0001g0075 | 2 | NA18977.hp1 NA18988.hp1 |
intron_variant | MODIFIER | c.155-27895dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68326990 | ||||||
| chrX:68327001
|
T | C | 45 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(42): Show | 45 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(42): Show |
intron_variant | MODIFIER | c.155-27905A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327001 | ||||||
| chrX:68327022
|
A | AG | 1 | a0001c0001t0001g0141 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.155-27927dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327022 | ||||||
| chrX:68327029
|
T | TG | 3 | a0001c0001t0001g0050a0001c0001t0002g0006a0001c0001t0024g0007 | 3 | HG00609.hp1 HG02074.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.155-27934dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327029 | ||||||
| chrX:68327029
|
TG | T | 1 | a0001c0001t0002g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.155-27934delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327029 | ||||||
| chrX:68327041
|
C | A | 1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.155-27945G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327041 | ||||||
| chrX:68327045
|
C | T | 3 | a0001c0001t0002g0125a0001c0001t0009g0128a0001c0001t0009g0129 | 3 | HG01243.hp1 HG01255.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.155-27949G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327045 | ||||||
| chrX:68327136
|
G | GC | 129 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(126): Show | 129 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(126): Show |
intron_variant | MODIFIER | c.155-28041dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327136 | ||||||
| chrX:68327136
|
G | GCC | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-28042_155-2804 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327136 | ||||||
| chrX:68327154
|
T | TG | 5 | a0001c0001t0001g0039a0001c0001t0001g0050a0001c0001t0001g0141others(2): Show | 5 | HG00609.hp1 HG00673.hp1 HG01074.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-28059dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327154 | ||||||
| chrX:68327154
|
TG | T | 1 | a0001c0001t0002g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.155-28059delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327154 | ||||||
| chrX:68327165
|
G | GC | 2 | a0001c0001t0001g0086a0001c0001t0024g0007 | 2 | NA19000.hp1 NA19060.hp1 |
intron_variant | MODIFIER | c.155-28070dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327165 | ||||||
| chrX:68327165
|
GC | G | 1 | a0001c0001t0002g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.155-28070delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327165 | ||||||
| chrX:68327172
|
G | GC | 1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.155-28077dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327172 | ||||||
| chrX:68327175
|
CG | C | 1 | a0001c0001t0029g0031 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.155-28080delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327175 | ||||||
| chrX:68327221
|
GC | G | 1 | a0001c0001t0002g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.155-28126delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327221 | ||||||
| chrX:68327255
|
GC | G | 1 | a0001c0001t0001g0098 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.155-28160delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327255 | ||||||
| chrX:68327261
|
A | AC | 2 | a0001c0001t0001g0053a0001c0001t0003g0076 | 2 | HG01192.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.155-28166dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327261 | ||||||
| chrX:68327319
|
G | A | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.155-28223C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327319 | ||||||
| chrX:68327325
|
G | C | 4 | a0001c0001t0002g0125a0001c0001t0002g0127a0001c0001t0009g0128others(1): Show | 4 | HG01243.hp1 HG01255.hp1 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-28229C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327325 | ||||||
| chrX:68327352
|
G | GA | 2 | a0001c0001t0001g0050a0001c0001t0002g0115 | 2 | HG00609.hp1 HG02145.hp1 |
intron_variant | MODIFIER | c.155-28257dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327352 | ||||||
| chrX:68327405
|
TG | T | 1 | a0001c0001t0002g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.155-28310delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327405 | ||||||
| chrX:68327435
|
G | GA | 1 | a0001c0001t0002g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.155-28340dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327435 | ||||||
| chrX:68327452
|
T | TG | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-28357dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327452 | ||||||
| chrX:68327636
|
C | T | 3 | a0001c0001t0002g0133a0001c0001t0007g0022a0001c0001t0007g0033 | 3 | HG01891.hp1 NA19030.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.155-28540G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327636 | ||||||
| chrX:68327781
|
TA | T | 1 | a0001c0001t0001g0025 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.155-28686delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327781 | ||||||
| chrX:68327788
|
T | A | 1 | a0001c0001t0003g0076 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.155-28692A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327788 | ||||||
| chrX:68327796
|
AT | A | 1 | a0001c0001t0015g0148 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.155-28701delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327796 | ||||||
| chrX:68327797
|
T | TA | 7 | a0001c0001t0001g0027a0001c0001t0001g0040a0001c0001t0001g0046others(4): Show | 7 | HG01928.hp1 HG02074.hp1 NA18955.hp1 others(4): Show |
intron_variant | MODIFIER | c.155-28702dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327797 | ||||||
| chrX:68327797
|
TA | T | 57 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0048others(54): Show | 57 | HG00099.hp2 HG00621.hp1 HG00642.hp1 others(54): Show |
intron_variant | MODIFIER | c.155-28702delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327797 | ||||||
| chrX:68327797
|
TAA | T | 3 | a0001c0001t0004g0026a0001c0001t0006g0120a0001c0001t0006g0121 | 3 | HG01167.hp1 HG01169.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.155-28703_155-2870 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327797 | ||||||
| chrX:68327804
|
A | T | 1 | a0001c0001t0001g0147 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.155-28708T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327804 | ||||||
| chrX:68327806
|
A | T | 4 | a0001c0001t0001g0043a0001c0001t0001g0058a0001c0001t0002g0047others(1): Show | 4 | HG00673.hp1 HG02129.hp1 NA18747.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-28710T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327806 | ||||||
| chrX:68327807
|
A | T | 33 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(30): Show | 33 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(30): Show |
intron_variant | MODIFIER | c.155-28711T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327807 | ||||||
| chrX:68327808
|
A | T | 6 | a0001c0001t0002g0123a0001c0001t0003g0101a0001c0001t0004g0010others(3): Show | 6 | HG02027.hp1 HG02280.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.155-28712T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327808 | ||||||
| chrX:68327825
|
C | CT | 5 | a0001c0001t0001g0050a0001c0001t0001g0066a0001c0001t0001g0098others(2): Show | 5 | HG00609.hp1 HG02735.hp1 NA18955.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-28730dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327825 | ||||||
| chrX:68327825
|
CT | C | 4 | a0001c0001t0001g0073a0001c0001t0001g0077a0001c0001t0005g0136others(1): Show | 4 | HG02071.hp1 HG02717.hp1 NA18962.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-28730delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327825 | ||||||
| chrX:68327863
|
C | T | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.155-28767G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327863 | ||||||
| chrX:68327885
|
AG | A | 1 | a0001c0001t0001g0040 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.155-28790delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327885 | ||||||
| chrX:68327916
|
G | A | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.155-28820C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327916 | ||||||
| chrX:68327987
|
G | GC | 1 | a0001c0001t0001g0141 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.155-28892dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327987 | ||||||
| chrX:68327996
|
AT | A | 1 | a0001c0001t0001g0025 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.155-28901delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68327996 | ||||||
| chrX:68328015
|
G | C | 21 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(18): Show | 21 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(18): Show |
intron_variant | MODIFIER | c.155-28919C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68328015 | ||||||
| chrX:68328020
|
G | A | 1 | a0001c0001t0001g0009 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.155-28924C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68328020 | ||||||
| chrX:68328030
|
CT | C | 1 | a0001c0001t0004g0011 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.155-28935delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68328030 | ||||||
| chrX:68328125
|
G | A | 1 | a0001c0001t0026g0056 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.155-29029C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68328125 | ||||||
| chrX:68328132
|
C | CT | 35 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0048others(32): Show | 35 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(32): Show |
intron_variant | MODIFIER | c.155-29037dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68328132 | ||||||
| chrX:68328132
|
CT | C | 1 | a0001c0003t0010g0085 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.155-29037delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68328132 | ||||||
| chrX:68328198
|
G | A | 21 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(18): Show | 21 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(18): Show |
intron_variant | MODIFIER | c.155-29102C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68328198 | ||||||
| chrX:68328241
|
G | A | 17 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(14): Show | 17 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(14): Show |
intron_variant | MODIFIER | c.155-29145C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68328241 | ||||||
| chrX:68328251
|
C | T | 1 | a0001c0001t0003g0065 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.155-29155G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68328251 | ||||||
| chrX:68328272
|
G | A | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.155-29176C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68328272 | ||||||
| chrX:68328286
|
G | GC | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.155-29191dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68328286 | ||||||
| chrX:68328340
|
A | G | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-29244T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68328340 | ||||||
| chrX:68328737
|
AC | A | 1 | a0001c0001t0001g0040 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.155-29642delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68328737 | ||||||
| chrX:68329283
|
A | C | 1 | a0001c0001t0001g0025 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.155-30187T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68329283 | ||||||
| chrX:68329937
|
C | T | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.155-30841G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68329937 | ||||||
| chrX:68330051
|
TTC | T | 1 | a0001c0001t0001g0040 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.155-30957_155-3095 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68330051 | ||||||
| chrX:68330078
|
T | C | 1 | a0001c0001t0005g0152 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.155-30982A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68330078 | ||||||
| chrX:68330354
|
TC | T | 1 | a0001c0001t0001g0025 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.155-31259delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68330354 | ||||||
| chrX:68330382
|
G | GC | 154 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(151): Show | 154 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
intron_variant | MODIFIER | c.155-31287dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68330382 | ||||||
| chrX:68330635
|
TA | T | 1 | a0001c0001t0001g0092 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.155-31540delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68330635 | ||||||
| chrX:68330648
|
A | C | 1 | a0001c0001t0005g0110 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.155-31552T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68330648 | ||||||
| chrX:68330700
|
C | T | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-31604G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68330700 | ||||||
| chrX:68330722
|
G | GA | 4 | a0001c0001t0001g0098a0001c0001t0002g0014a0001c0001t0007g0022others(1): Show | 4 | HG03098.hp1 NA18955.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-31627dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68330722 | ||||||
| chrX:68330765
|
T | TA | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.155-31670dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68330765 | ||||||
| chrX:68330866
|
T | C | 1 | a0001c0001t0011g0061 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.155-31770A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68330866 | ||||||
| chrX:68331299
|
T | C | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.155-32203A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68331299 | ||||||
| chrX:68331385
|
TG | T | 1 | a0001c0001t0006g0120 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.155-32290delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68331385 | ||||||
| chrX:68331550
|
G | A | 1 | a0001c0001t0029g0031 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.155-32454C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68331550 | ||||||
| chrX:68331671
|
C | A | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-32575G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68331671 | ||||||
| chrX:68331730
|
C | CA | 20 | a0001c0001t0001g0009a0001c0001t0001g0016a0001c0001t0001g0027others(17): Show | 20 | HG00099.hp1 HG00140.hp1 HG00673.hp1 others(17): Show |
intron_variant | MODIFIER | c.155-32635dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68331730 | ||||||
| chrX:68331730
|
CA | C | 19 | a0001c0001t0001g0141a0001c0001t0002g0014a0001c0001t0002g0108others(16): Show | 19 | HG01074.hp1 HG01169.hp1 HG01891.hp2 others(16): Show |
intron_variant | MODIFIER | c.155-32635delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68331730 | ||||||
| chrX:68331809
|
G | A | 2 | a0001c0001t0001g0068a0001c0001t0001g0073 | 2 | NA19066.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.155-32713C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68331809 | ||||||
| chrX:68332034
|
C | CATAA | 3 | a0001c0001t0001g0049a0001c0001t0020g0099a0002c0002t0003g0001 | 3 | HG00738.hp1 NA18945.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.155-32942_155-3293 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68332034 | ||||||
| chrX:68332034
|
CATAA | C | 27 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(24): Show | 27 | HG01243.hp1 HG01255.hp1 HG01891.hp2 others(24): Show |
intron_variant | MODIFIER | c.155-32942_155-3293 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68332034 | ||||||
| chrX:68332171
|
AATG | A | 2 | a0001c0001t0002g0021a0001c0001t0007g0023 | 2 | HG02257.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.155-33078_155-3307 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68332171 | ||||||
| chrX:68332235
|
C | CT | 1 | a0001c0001t0001g0046 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.155-33140dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68332235 | ||||||
| chrX:68332455
|
T | C | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.155-33359A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68332455 | ||||||
| chrX:68332464
|
G | A | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.155-33368C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68332464 | ||||||
| chrX:68332506
|
C | T | 21 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(18): Show | 21 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(18): Show |
intron_variant | MODIFIER | c.155-33410G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68332506 | ||||||
| chrX:68332802
|
T | TA | 2 | a0001c0001t0001g0086a0001c0001t0024g0007 | 2 | NA19000.hp1 NA19060.hp1 |
intron_variant | MODIFIER | c.155-33707dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68332802 | ||||||
| chrX:68332802
|
TA | T | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-33707delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68332802 | ||||||
| chrX:68333139
|
T | A | 1 | a0001c0001t0001g0051 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.155-34043A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68333139 | ||||||
| chrX:68333255
|
A | AAAT | 5 | a0001c0001t0002g0021a0001c0001t0002g0133a0001c0001t0007g0022others(2): Show | 5 | HG01891.hp1 HG02257.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-34162_155-3416 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68333255 | ||||||
| chrX:68333255
|
AAATAAT | A | 1 | a0001c0001t0016g0119 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.155-34165_155-3416 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68333255 | ||||||
| chrX:68333258
|
T | TAAG | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.155-34163_155-3416 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68333258 | ||||||
| chrX:68333297
|
C | G | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-34201G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68333297 | ||||||
| chrX:68333365
|
G | A | 1 | a0001c0001t0001g0028 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.155-34269C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68333365 | ||||||
| chrX:68333496
|
A | G | 1 | a0001c0001t0001g0093 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.155-34400T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68333496 | ||||||
| chrX:68333664
|
C | T | 2 | a0001c0001t0007g0022a0001c0001t0007g0033 | 2 | NA19030.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.155-34568G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68333664 | ||||||
| chrX:68333671
|
G | GCACACA | 2 | a0001c0001t0001g0050a0001c0001t0001g0154 | 2 | HG00609.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.155-34581_155-3457 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68333671 | ||||||
| chrX:68333671
|
GCA | G | 5 | a0001c0001t0002g0134a0001c0001t0003g0139a0001c0001t0005g0136others(2): Show | 5 | HG02258.hp1 HG02559.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-34577_155-3457 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68333671 | ||||||
| chrX:68333673
|
A | G | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-34577T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68333673 | ||||||
| chrX:68333688
|
G | GAC | 1 | a0001c0001t0002g0124 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.155-34594_155-3459 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68333688 | ||||||
| chrX:68333767
|
G | A | 1 | a0001c0001t0001g0049 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.155-34671C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68333767 | ||||||
| chrX:68333891
|
A | AT | 5 | a0001c0001t0001g0027a0001c0001t0001g0059a0001c0001t0001g0066others(2): Show | 5 | HG00140.hp1 HG01169.hp2 HG01261.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-34796dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68333891 | ||||||
| chrX:68333906
|
TTTG | T | 1 | a0001c0001t0005g0110 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.155-34813_155-3481 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68333906 | ||||||
| chrX:68333907
|
TTG | T | 21 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(18): Show | 21 | HG00738.hp1 HG01891.hp2 HG02109.hp1 others(18): Show |
intron_variant | MODIFIER | c.155-34813_155-3481 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68333907 | ||||||
| chrX:68333908
|
TG | T | 42 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(39): Show | 42 | HG00099.hp2 HG00280.hp1 HG00642.hp1 others(39): Show |
intron_variant | MODIFIER | c.155-34813delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68333908 | ||||||
| chrX:68333909
|
G | T | 90 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(87): Show | 90 | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(87): Show |
intron_variant | MODIFIER | c.155-34813C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68333909 | ||||||
| chrX:68333921
|
C | G | 154 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(151): Show | 154 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
intron_variant | MODIFIER | c.155-34825G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68333921 | ||||||
| chrX:68333943
|
C | G | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-34847G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68333943 | ||||||
| chrX:68334029
|
C | G | 1 | a0001c0001t0001g0154 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.155-34933G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68334029 | ||||||
| chrX:68334207
|
T | C | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-35111A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68334207 | ||||||
| chrX:68334511
|
G | A | 3 | a0001c0001t0002g0019a0001c0001t0003g0018a0001c0001t0003g0020 | 3 | HG02109.hp2 HG02280.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.155-35415C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68334511 | ||||||
| chrX:68334529
|
A | G | 1 | a0001c0001t0001g0141 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.155-35433T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68334529 | ||||||
| chrX:68334535
|
G | A | 2 | a0001c0001t0002g0124a0001c0001t0002g0144 | 2 | HG02132.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.155-35439C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68334535 | ||||||
| chrX:68334628
|
TA | T | 1 | a0001c0001t0001g0040 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.155-35533delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68334628 | ||||||
| chrX:68334710
|
T | G | 1 | a0001c0001t0001g0147 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.155-35614A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68334710 | ||||||
| chrX:68334975
|
C | CAATT | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.155-35883_155-3588 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68334975 | ||||||
| chrX:68334975
|
CAATT | C | 4 | a0001c0001t0001g0071a0001c0001t0003g0063a0001c0001t0003g0101others(1): Show | 4 | HG00642.hp1 HG02630.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-35883_155-3588 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68334975 | ||||||
| chrX:68334994
|
T | C | 2 | a0001c0001t0001g0053a0001c0001t0015g0148 | 2 | HG01943.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.155-35898A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68334994 | ||||||
| chrX:68335082
|
C | T | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.155-35986G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68335082 | ||||||
| chrX:68335169
|
TA | T | 69 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0040others(66): Show | 69 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(66): Show |
intron_variant | MODIFIER | c.155-36074delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68335169 | ||||||
| chrX:68335181
|
A | G | 1 | a0001c0001t0005g0107 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.155-36085T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68335181 | ||||||
| chrX:68335181
|
A | T | 1 | a0001c0001t0002g0125 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.155-36085T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68335181 | ||||||
| chrX:68335182
|
G | C | 1 | a0001c0001t0005g0107 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.155-36086C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68335182 | ||||||
| chrX:68335183
|
C | CG | 1 | a0001c0001t0024g0007 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.155-36088dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68335183 | ||||||
| chrX:68335183
|
C | G | 1 | a0001c0001t0005g0107 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.155-36087G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68335183 | ||||||
| chrX:68335195
|
C | T | 1 | a0003c0004t0014g0102 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.155-36099G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68335195 | ||||||
| chrX:68335209
|
T | A | 69 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(66): Show | 69 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(66): Show |
intron_variant | MODIFIER | c.155-36113A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68335209 | ||||||
| chrX:68335271
|
AC | A | 1 | a0001c0001t0001g0040 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.155-36176delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68335271 | ||||||
| chrX:68335301
|
GC | G | 1 | a0001c0001t0001g0040 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.155-36206delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68335301 | ||||||
| chrX:68335337
|
A | G | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-36241T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68335337 | ||||||
| chrX:68335446
|
A | T | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.155-36350T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68335446 | ||||||
| chrX:68335781
|
T | C | 1 | a0001c0001t0001g0153 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.155-36685A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68335781 | ||||||
| chrX:68336283
|
G | A | 1 | a0001c0001t0001g0153 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.155-37187C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68336283 | ||||||
| chrX:68336653
|
C | CGT | 1 | a0001c0001t0003g0065 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.155-37559_155-3755 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68336653 | ||||||
| chrX:68336673
|
A | AGT | 1 | a0001c0001t0003g0063 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.155-37579_155-3757 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68336673 | ||||||
| chrX:68336673
|
AGT | A | 67 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(64): Show | 67 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(64): Show |
intron_variant | MODIFIER | c.155-37579_155-3757 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68336673 | ||||||
| chrX:68336734
|
A | G | 5 | a0001c0001t0002g0021a0001c0001t0002g0133a0001c0001t0007g0022others(2): Show | 5 | HG01891.hp1 HG02257.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-37638T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68336734 | ||||||
| chrX:68337069
|
G | A | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.155-37973C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68337069 | ||||||
| chrX:68337129
|
G | A | 1 | a0001c0001t0003g0101 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.155-38033C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68337129 | ||||||
| chrX:68337200
|
TA | T | 5 | a0001c0001t0002g0021a0001c0001t0002g0133a0001c0001t0007g0022others(2): Show | 5 | HG01891.hp1 HG02257.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-38105delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68337200 | ||||||
| chrX:68337528
|
G | GT | 1 | a0001c0001t0001g0027 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.155-38433dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68337528 | ||||||
| chrX:68337796
|
C | CA | 3 | a0001c0001t0001g0027a0001c0001t0001g0069a0001c0001t0002g0057 | 3 | HG00140.hp1 NA18994.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.155-38701dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68337796 | ||||||
| chrX:68337796
|
CA | C | 43 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0038others(40): Show | 43 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(40): Show |
intron_variant | MODIFIER | c.155-38701delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68337796 | ||||||
| chrX:68337875
|
C | A | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.155-38779G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68337875 | ||||||
| chrX:68338018
|
T | A | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.155-38922A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68338018 | ||||||
| chrX:68338918
|
T | TA | 1 | a0001c0001t0003g0018 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.155-39823dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68338918 | ||||||
| chrX:68339077
|
G | GA | 1 | a0004c0005t0012g0024 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.155-39982dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68339077 | ||||||
| chrX:68339077
|
GA | G | 7 | a0001c0001t0001g0071a0001c0001t0002g0125a0001c0001t0002g0127others(4): Show | 7 | HG00642.hp1 HG00735.hp2 HG01243.hp1 others(4): Show |
intron_variant | MODIFIER | c.155-39982delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68339077 | ||||||
| chrX:68339085
|
A | AAAATATA others(26): Show |
1 | a0001c0001t0003g0081 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.155-40022_155-3999 others(37): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68339085 | ||||||
| chrX:68339085
|
A | AAT | 3 | a0001c0001t0002g0133a0001c0001t0007g0022a0001c0001t0007g0033 | 3 | HG01891.hp1 NA19030.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.155-39990_155-3998 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68339085 | ||||||
| chrX:68339086
|
AAAT | A | 20 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(17): Show | 20 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(17): Show |
intron_variant | MODIFIER | c.155-39993_155-3999 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68339086 | ||||||
| chrX:68339087
|
A | AAT | 1 | a0001c0001t0005g0152 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.155-39993_155-3999 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68339087 | ||||||
| chrX:68339087
|
A | T | 43 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0038others(40): Show | 43 | HG00738.hp1 HG01069.hp1 HG01081.hp1 others(40): Show |
intron_variant | MODIFIER | c.155-39991T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68339087 | ||||||
| chrX:68339088
|
ATAT | A | 1 | a0001c0001t0008g0112 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.155-39995_155-3999 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68339088 | ||||||
| chrX:68339089
|
T | A | 1 | a0001c0001t0001g0051 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.155-39993A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68339089 | ||||||
| chrX:68339245
|
GA | G | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.155-40150delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68339245 | ||||||
| chrX:68339452
|
T | G | 2 | a0002c0002t0001g0002a0002c0002t0003g0001 | 2 | HG01358.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.155-40356A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68339452 | ||||||
| chrX:68339622
|
T | G | 1 | a0001c0001t0002g0125 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.155-40526A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68339622 | ||||||
| chrX:68340173
|
C | A | 2 | a0001c0001t0002g0054a0001c0001t0002g0055 | 2 | NA18983.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.155-41077G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68340173 | ||||||
| chrX:68340249
|
T | C | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.155-41153A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68340249 | ||||||
| chrX:68340428
|
T | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.155-41332A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68340428 | ||||||
| chrX:68340585
|
T | TA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.155-41490dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68340585 | ||||||
| chrX:68341006
|
G | GA | 2 | a0001c0001t0003g0076a0001c0001t0019g0003 | 2 | HG01192.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.155-41911dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68341006 | ||||||
| chrX:68341006
|
GA | G | 2 | a0001c0001t0001g0016a0001c0001t0030g0155 | 2 | HG01256.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.155-41911delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68341006 | ||||||
| chrX:68341076
|
C | CA | 8 | a0001c0001t0001g0051a0001c0001t0003g0101a0001c0001t0004g0010others(5): Show | 8 | HG00621.hp1 HG02280.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.155-41981dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68341076 | ||||||
| chrX:68341076
|
C | CAA | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.155-41982_155-4198 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68341076 | ||||||
| chrX:68341076
|
CA | C | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.155-41981delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68341076 | ||||||
| chrX:68341326
|
C | CA | 40 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0066others(37): Show | 40 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(37): Show |
intron_variant | MODIFIER | c.155-42231dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68341326 | ||||||
| chrX:68341434
|
G | A | 7 | a0001c0001t0002g0115a0001c0001t0004g0026a0001c0001t0004g0030others(4): Show | 7 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.155-42338C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68341434 | ||||||
| chrX:68341675
|
A | G | 2 | a0001c0001t0001g0075a0001c0001t0002g0057 | 2 | NA18977.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.155-42579T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68341675 | ||||||
| chrX:68341703
|
C | G | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-42607G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68341703 | ||||||
| chrX:68341968
|
G | GT | 16 | a0001c0001t0001g0027a0001c0001t0001g0044a0001c0001t0001g0046others(13): Show | 16 | HG00673.hp1 HG01243.hp1 HG01358.hp1 others(13): Show |
intron_variant | MODIFIER | c.155-42873dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68341968 | ||||||
| chrX:68341968
|
G | GTT | 2 | a0001c0001t0002g0133a0001c0001t0003g0139 | 2 | HG01891.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.155-42874_155-4287 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68341968 | ||||||
| chrX:68341968
|
GT | G | 11 | a0001c0001t0001g0040a0001c0001t0003g0101a0001c0001t0004g0010others(8): Show | 11 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(8): Show |
intron_variant | MODIFIER | c.155-42873delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68341968 | ||||||
| chrX:68341968
|
GTT | G | 3 | a0001c0001t0002g0115a0001c0001t0005g0107a0001c0001t0006g0106 | 3 | HG02145.hp1 HG02486.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.155-42874_155-4287 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68341968 | ||||||
| chrX:68341968
|
GTTT | G | 22 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(19): Show | 22 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(19): Show |
intron_variant | MODIFIER | c.155-42875_155-4287 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68341968 | ||||||
| chrX:68341971
|
T | G | 1 | a0001c0001t0006g0106 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.155-42875A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68341971 | ||||||
| chrX:68341972
|
T | G | 1 | a0001c0001t0006g0105 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.155-42876A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68341972 | ||||||
| chrX:68342028
|
G | A | 5 | a0001c0001t0002g0021a0001c0001t0002g0133a0001c0001t0007g0022others(2): Show | 5 | HG01891.hp1 HG02257.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-42932C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68342028 | ||||||
| chrX:68342105
|
G | A | 38 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(35): Show | 38 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(35): Show |
intron_variant | MODIFIER | c.155-43009C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68342105 | ||||||
| chrX:68342137
|
T | C | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.155-43041A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68342137 | ||||||
| chrX:68342483
|
C | T | 18 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(15): Show | 18 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(15): Show |
intron_variant | MODIFIER | c.155-43387G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68342483 | ||||||
| chrX:68342802
|
G | C | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-43706C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68342802 | ||||||
| chrX:68342977
|
G | A | 18 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(15): Show | 18 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(15): Show |
intron_variant | MODIFIER | c.155-43881C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68342977 | ||||||
| chrX:68343024
|
G | A | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.155-43928C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68343024 | ||||||
| chrX:68343222
|
C | G | 1 | a0001c0001t0001g0077 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.155-44126G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68343222 | ||||||
| chrX:68343274
|
C | CA | 39 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(36): Show | 39 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(36): Show |
intron_variant | MODIFIER | c.155-44179dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68343274 | ||||||
| chrX:68343274
|
CA | C | 21 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(18): Show | 21 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(18): Show |
intron_variant | MODIFIER | c.155-44179delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68343274 | ||||||
| chrX:68343285
|
A | G | 2 | a0001c0001t0003g0118a0001c0001t0019g0003 | 2 | HG02572.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.155-44189T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68343285 | ||||||
| chrX:68343286
|
G | C | 2 | a0001c0001t0003g0118a0001c0001t0019g0003 | 2 | HG02572.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.155-44190C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68343286 | ||||||
| chrX:68343287
|
C | CG | 2 | a0001c0001t0001g0048a0001c0001t0001g0053 | 2 | HG02738.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.155-44192dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68343287 | ||||||
| chrX:68343287
|
C | G | 2 | a0001c0001t0003g0118a0001c0001t0019g0003 | 2 | HG02572.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.155-44191G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68343287 | ||||||
| chrX:68343287
|
CG | C | 2 | a0001c0001t0003g0122a0001c0001t0029g0031 | 2 | NA18962.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.155-44192delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68343287 | ||||||
| chrX:68343529
|
G | A | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-44433C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68343529 | ||||||
| chrX:68343629
|
T | C | 30 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(27): Show | 30 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(27): Show |
intron_variant | MODIFIER | c.155-44533A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68343629 | ||||||
| chrX:68343658
|
C | T | 24 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(21): Show | 24 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.155-44562G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68343658 | ||||||
| chrX:68343741
|
C | T | 1 | a0001c0001t0016g0119 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.155-44645G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68343741 | ||||||
| chrX:68344107
|
G | A | 3 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02109.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.155-45011C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68344107 | ||||||
| chrX:68344163
|
T | C | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.155-45067A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68344163 | ||||||
| chrX:68344436
|
AC | A | 1 | a0001c0001t0013g0042 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.155-45341delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68344436 | ||||||
| chrX:68344440
|
C | T | 1 | a0001c0001t0001g0080 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.155-45344G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68344440 | ||||||
| chrX:68344505
|
A | G | 45 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(42): Show | 45 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(42): Show |
intron_variant | MODIFIER | c.155-45409T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68344505 | ||||||
| chrX:68344577
|
A | T | 1 | a0001c0001t0004g0117 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.155-45481T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68344577 | ||||||
| chrX:68344639
|
T | A | 45 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(42): Show | 45 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(42): Show |
intron_variant | MODIFIER | c.155-45543A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68344639 | ||||||
| chrX:68344974
|
G | T | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.155-45878C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68344974 | ||||||
| chrX:68345474
|
C | CA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.155-46379dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68345474 | ||||||
| chrX:68345510
|
T | G | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.155-46414A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68345510 | ||||||
| chrX:68345771
|
G | C | 12 | a0001c0001t0002g0021a0001c0001t0002g0115a0001c0001t0002g0133others(9): Show | 12 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(9): Show |
intron_variant | MODIFIER | c.155-46675C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68345771 | ||||||
| chrX:68345861
|
C | T | 69 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(66): Show | 69 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(66): Show |
intron_variant | MODIFIER | c.155-46765G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68345861 | ||||||
| chrX:68346801
|
T | C | 6 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(3): Show | 6 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.155-47705A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68346801 | ||||||
| chrX:68346890
|
G | A | 1 | a0001c0001t0001g0097 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.155-47794C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68346890 | ||||||
| chrX:68347385
|
CAG | C | 38 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(35): Show | 38 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(35): Show |
intron_variant | MODIFIER | c.155-48291_155-4829 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68347385 | ||||||
| chrX:68347392
|
C | T | 38 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(35): Show | 38 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(35): Show |
intron_variant | MODIFIER | c.155-48296G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68347392 | ||||||
| chrX:68347491
|
T | G | 1 | a0001c0001t0008g0096 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.155-48395A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68347491 | ||||||
| chrX:68347648
|
G | T | 69 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(66): Show | 69 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(66): Show |
intron_variant | MODIFIER | c.155-48552C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68347648 | ||||||
| chrX:68347651
|
T | TA | 3 | a0001c0001t0007g0032a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02257.hp1 HG02809.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.155-48556dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68347651 | ||||||
| chrX:68347662
|
G | A | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.155-48566C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68347662 | ||||||
| chrX:68347855
|
TG | T | 38 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(35): Show | 38 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(35): Show |
intron_variant | MODIFIER | c.155-48760delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68347855 | ||||||
| chrX:68347857
|
C | T | 38 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(35): Show | 38 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(35): Show |
intron_variant | MODIFIER | c.155-48761G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68347857 | ||||||
| chrX:68348270
|
A | T | 1 | a0001c0001t0001g0060 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.155-49174T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68348270 | ||||||
| chrX:68348323
|
GT | G | 69 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(66): Show | 69 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(66): Show |
intron_variant | MODIFIER | c.155-49228delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68348323 | ||||||
| chrX:68348536
|
C | CA | 53 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(50): Show | 53 | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(50): Show |
intron_variant | MODIFIER | c.155-49441dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68348536 | ||||||
| chrX:68348600
|
T | C | 1 | a0001c0001t0003g0035 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.155-49504A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68348600 | ||||||
| chrX:68348844
|
T | C | 27 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(24): Show | 27 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(24): Show |
intron_variant | MODIFIER | c.155-49748A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68348844 | ||||||
| chrX:68348993
|
CTG | C | 1 | a0001c0001t0028g0084 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.155-49899_155-4989 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68348993 | ||||||
| chrX:68349301
|
G | GA | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.155-50206dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68349301 | ||||||
| chrX:68349557
|
G | C | 1 | a0001c0001t0003g0100 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.155-50461C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68349557 | ||||||
| chrX:68349920
|
G | T | 18 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(15): Show | 18 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(15): Show |
intron_variant | MODIFIER | c.155-50824C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68349920 | ||||||
| chrX:68349968
|
T | C | 4 | a0001c0001t0002g0125a0001c0001t0002g0127a0001c0001t0009g0128others(1): Show | 4 | HG01243.hp1 HG01255.hp1 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-50872A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68349968 | ||||||
| chrX:68350189
|
T | A | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.155-51093A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68350189 | ||||||
| chrX:68350427
|
CCTCCCTC others(1): Show |
C | 1 | a0001c0001t0001g0082 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.155-51339_155-5133 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68350427 | ||||||
| chrX:68350454
|
CCCTT | C | 3 | a0001c0001t0003g0122a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG02647.hp1 HG02886.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.155-51362_155-5135 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68350454 | ||||||
| chrX:68350458
|
T | TCCTTCCT others(5): Show |
7 | a0001c0001t0002g0115a0001c0001t0004g0026a0001c0001t0004g0030others(4): Show | 7 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.155-51363_155-5136 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68350458 | ||||||
| chrX:68350466
|
T | C | 28 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(25): Show | 28 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(25): Show |
intron_variant | MODIFIER | c.155-51370A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68350466 | ||||||
| chrX:68350470
|
T | C | 28 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(25): Show | 28 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(25): Show |
intron_variant | MODIFIER | c.155-51374A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68350470 | ||||||
| chrX:68350470
|
TCCTC | T | 16 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(13): Show | 16 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(13): Show |
intron_variant | MODIFIER | c.155-51378_155-5137 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68350470 | ||||||
| chrX:68350478
|
C | T | 28 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(25): Show | 28 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(25): Show |
intron_variant | MODIFIER | c.155-51382G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68350478 | ||||||
| chrX:68350484
|
C | CTTCCTCC others(17): Show |
1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.155-51389_155-5138 others(28): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68350484 | ||||||
| chrX:68350484
|
C | CTTCCTCC others(25): Show |
27 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(24): Show | 27 | HG00642.hp1 HG00735.hp2 HG01081.hp1 others(24): Show |
intron_variant | MODIFIER | c.155-51389_155-5138 others(36): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68350484 | ||||||
| chrX:68350492
|
C | T | 28 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(25): Show | 28 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(25): Show |
intron_variant | MODIFIER | c.155-51396G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68350492 | ||||||
| chrX:68350510
|
T | TCCTC | 5 | a0001c0001t0002g0126a0001c0001t0002g0130a0001c0001t0002g0131others(2): Show | 5 | HG02965.hp1 HG02976.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-51418_155-5141 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68350510 | ||||||
| chrX:68350549
|
T | C | 1 | a0001c0001t0001g0046 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.155-51453A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68350549 | ||||||
| chrX:68350716
|
T | TA | 28 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(25): Show | 28 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(25): Show |
intron_variant | MODIFIER | c.155-51621_155-5162 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68350716 | ||||||
| chrX:68350731
|
A | G | 68 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(65): Show | 68 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(65): Show |
intron_variant | MODIFIER | c.155-51635T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68350731 | ||||||
| chrX:68350970
|
C | A | 18 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(15): Show | 18 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(15): Show |
intron_variant | MODIFIER | c.155-51874G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68350970 | ||||||
| chrX:68351006
|
G | A | 1 | a0001c0001t0005g0152 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.155-51910C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68351006 | ||||||
| chrX:68351118
|
G | A | 28 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(25): Show | 28 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(25): Show |
intron_variant | MODIFIER | c.155-52022C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68351118 | ||||||
| chrX:68351178
|
C | T | 1 | a0001c0001t0001g0143 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.155-52082G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68351178 | ||||||
| chrX:68351436
|
G | GC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.155-52341dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68351436 | ||||||
| chrX:68351746
|
G | T | 1 | a0001c0001t0001g0145 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.155-52650C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68351746 | ||||||
| chrX:68351757
|
C | A | 5 | a0001c0001t0001g0027a0001c0001t0001g0041a0001c0001t0001g0053others(2): Show | 5 | NA18960.hp1 NA18974.hp1 NA18994.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-52661G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68351757 | ||||||
| chrX:68351870
|
T | TC | 2 | a0001c0001t0001g0077a0001c0001t0023g0037 | 2 | HG02071.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.155-52775_155-5277 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68351870 | ||||||
| chrX:68351871
|
T | C | 26 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(23): Show | 26 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(23): Show |
intron_variant | MODIFIER | c.155-52775A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68351871 | ||||||
| chrX:68351873
|
C | CT | 8 | a0001c0001t0001g0027a0001c0001t0001g0039a0001c0001t0001g0062others(5): Show | 8 | HG01358.hp1 HG02109.hp1 HG02698.hp1 others(5): Show |
intron_variant | MODIFIER | c.155-52778dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68351873 | ||||||
| chrX:68351873
|
C | CTT | 1 | a0001c0001t0008g0096 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.155-52779_155-5277 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68351873 | ||||||
| chrX:68351873
|
C | T | 28 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(25): Show | 28 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(25): Show |
intron_variant | MODIFIER | c.155-52777G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68351873 | ||||||
| chrX:68351873
|
CT | C | 33 | a0001c0001t0001g0092a0001c0001t0001g0147a0001c0001t0002g0014others(30): Show | 33 | HG00280.hp1 HG01081.hp2 HG01169.hp1 others(30): Show |
intron_variant | MODIFIER | c.155-52778delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68351873 | ||||||
| chrX:68351873
|
CTT | C | 5 | a0001c0001t0002g0115a0001c0001t0003g0122a0001c0001t0006g0105others(2): Show | 5 | HG01167.hp1 HG02145.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.155-52779_155-5277 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68351873 | ||||||
| chrX:68351874
|
T | C | 2 | a0001c0001t0001g0077a0001c0001t0023g0037 | 2 | HG02071.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.155-52778A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68351874 | ||||||
| chrX:68351875
|
T | C | 26 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(23): Show | 26 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(23): Show |
intron_variant | MODIFIER | c.155-52779A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68351875 | ||||||
| chrX:68352361
|
G | GA | 33 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0043others(30): Show | 33 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(30): Show |
intron_variant | MODIFIER | c.155-53266dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68352361 | ||||||
| chrX:68352361
|
GA | G | 1 | a0001c0001t0001g0146 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.155-53266delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68352361 | ||||||
| chrX:68352507
|
A | G | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.155-53411T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68352507 | ||||||
| chrX:68352573
|
T | TC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.155-53478dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68352573 | ||||||
| chrX:68353043
|
T | G | 2 | a0001c0001t0004g0094a0001c0001t0004g0095 | 2 | HG03209.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.155-53947A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68353043 | ||||||
| chrX:68353110
|
C | T | 1 | a0001c0001t0003g0111 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.155-54014G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68353110 | ||||||
| chrX:68353252
|
AC | A | 1 | a0001c0001t0001g0015 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.155-54157delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68353252 | ||||||
| chrX:68353393
|
A | AC | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.155-54298dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68353393 | ||||||
| chrX:68353406
|
A | AG | 2 | a0001c0001t0004g0034a0001c0001t0021g0150 | 2 | HG02055.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.155-54311dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68353406 | ||||||
| chrX:68353408
|
G | GA | 22 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0029others(19): Show | 22 | HG00735.hp1 HG01192.hp1 HG01256.hp1 others(19): Show |
intron_variant | MODIFIER | c.155-54313dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68353408 | ||||||
| chrX:68353408
|
G | GAA | 2 | a0001c0001t0003g0100a0001c0001t0006g0105 | 2 | HG01106.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.155-54314_155-5431 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68353408 | ||||||
| chrX:68353408
|
G | GAAA | 2 | a0001c0001t0001g0062a0001c0001t0006g0106 | 2 | HG02647.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.155-54315_155-5431 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68353408 | ||||||
| chrX:68353408
|
GA | G | 4 | a0001c0001t0001g0015a0001c0001t0002g0014a0001c0001t0002g0108others(1): Show | 4 | HG02922.hp1 HG03098.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.155-54313delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68353408 | ||||||
| chrX:68353409
|
A | G | 22 | a0001c0001t0002g0116a0001c0001t0002g0126a0001c0001t0002g0130others(19): Show | 22 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(19): Show |
intron_variant | MODIFIER | c.155-54313T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68353409 | ||||||
| chrX:68353410
|
A | G | 3 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114 | 3 | HG02922.hp1 HG03098.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.155-54314T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68353410 | ||||||
| chrX:68353415
|
A | G | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.155-54319T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68353415 | ||||||
| chrX:68353425
|
A | AG | 1 | a0001c0003t0010g0089 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.155-54330_155-5432 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68353425 | ||||||
| chrX:68353655
|
G | A | 25 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(22): Show | 25 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(22): Show |
intron_variant | MODIFIER | c.155-54559C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68353655 | ||||||
| chrX:68353743
|
C | G | 1 | a0001c0001t0018g0104 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.155-54647G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68353743 | ||||||
| chrX:68354189
|
G | A | 67 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(64): Show | 67 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(64): Show |
intron_variant | MODIFIER | c.155-55093C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68354189 | ||||||
| chrX:68354452
|
C | CA | 36 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(33): Show | 36 | HG00642.hp1 HG00735.hp2 HG01106.hp1 others(33): Show |
intron_variant | MODIFIER | c.155-55357dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68354452 | ||||||
| chrX:68354452
|
C | CAA | 1 | a0001c0001t0002g0133 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.155-55358_155-5535 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68354452 | ||||||
| chrX:68354479
|
C | A | 3 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02109.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.155-55383G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68354479 | ||||||
| chrX:68354594
|
C | T | 23 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(20): Show | 23 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(20): Show |
intron_variant | MODIFIER | c.155-55498G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68354594 | ||||||
| chrX:68354754
|
C | CA | 16 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0053others(13): Show | 16 | HG01261.hp1 HG01433.hp1 HG01891.hp1 others(13): Show |
intron_variant | MODIFIER | c.155-55659dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68354754 | ||||||
| chrX:68354754
|
C | CAA | 27 | a0001c0001t0002g0014a0001c0001t0002g0114a0001c0001t0002g0116others(24): Show | 27 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(24): Show |
intron_variant | MODIFIER | c.155-55660_155-5565 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68354754 | ||||||
| chrX:68354754
|
C | CAAA | 1 | a0001c0001t0002g0108 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.155-55661_155-5565 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68354754 | ||||||
| chrX:68354766
|
A | C | 1 | a0001c0001t0002g0144 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.155-55670T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68354766 | ||||||
| chrX:68355465
|
C | T | 23 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(20): Show | 23 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(20): Show |
intron_variant | MODIFIER | c.155-56369G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68355465 | ||||||
| chrX:68355687
|
T | C | 3 | a0001c0001t0002g0116a0001c0001t0005g0110a0001c0001t0008g0112 | 3 | HG02818.hp2 HG03540.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.155-56591A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68355687 | ||||||
| chrX:68355803
|
G | A | 3 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02109.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.155-56707C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68355803 | ||||||
| chrX:68355861
|
AC | A | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-56766delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68355861 | ||||||
| chrX:68355975
|
G | C | 1 | a0001c0001t0003g0065 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.155-56879C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68355975 | ||||||
| chrX:68356048
|
C | CA | 12 | a0001c0001t0001g0027a0001c0001t0001g0048a0001c0001t0001g0070others(9): Show | 12 | HG02071.hp1 HG02559.hp1 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.155-56953dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68356048 | ||||||
| chrX:68356128
|
C | G | 1 | a0001c0001t0005g0152 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.155-57032G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68356128 | ||||||
| chrX:68356145
|
CTGTAGGG others(1): Show |
C | 1 | a0001c0001t0003g0076 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.155-57057_155-5705 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68356145 | ||||||
| chrX:68356244
|
A | C | 3 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02109.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.155-57148T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68356244 | ||||||
| chrX:68356269
|
AT | A | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-57174delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68356269 | ||||||
| chrX:68356358
|
TC | T | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-57263delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68356358 | ||||||
| chrX:68356418
|
A | AT | 54 | a0001c0001t0001g0008a0001c0001t0001g0071a0001c0001t0001g0077others(51): Show | 54 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(51): Show |
intron_variant | MODIFIER | c.155-57323dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68356418 | ||||||
| chrX:68356418
|
A | ATT | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.155-57324_155-5732 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68356418 | ||||||
| chrX:68356418
|
AT | A | 2 | a0001c0001t0001g0029a0001c0001t0015g0148 | 2 | HG01943.hp1 NA18988.hp1 |
intron_variant | MODIFIER | c.155-57323delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68356418 | ||||||
| chrX:68356601
|
TG | T | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-57506delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68356601 | ||||||
| chrX:68356734
|
A | AT | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-57639_155-5763 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68356734 | ||||||
| chrX:68356810
|
AT | A | 1 | a0001c0001t0001g0029 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.155-57715delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68356810 | ||||||
| chrX:68356811
|
T | A | 9 | a0001c0001t0002g0019a0001c0001t0002g0021a0001c0001t0002g0133others(6): Show | 9 | HG00280.hp1 HG01891.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.155-57715A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68356811 | ||||||
| chrX:68356924
|
G | A | 1 | a0001c0001t0013g0042 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.155-57828C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68356924 | ||||||
| chrX:68357066
|
T | C | 16 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(13): Show | 16 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(13): Show |
intron_variant | MODIFIER | c.155-57970A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68357066 | ||||||
| chrX:68357276
|
A | G | 35 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0021others(32): Show | 35 | HG00280.hp1 HG01081.hp2 HG01167.hp1 others(32): Show |
intron_variant | MODIFIER | c.155-58180T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68357276 | ||||||
| chrX:68357338
|
G | C | 4 | a0001c0001t0001g0016a0001c0001t0001g0059a0001c0001t0001g0074others(1): Show | 4 | HG01069.hp1 HG01256.hp1 HG01258.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-58242C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68357338 | ||||||
| chrX:68357396
|
T | TC | 1 | a0001c0001t0001g0147 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.155-58301dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68357396 | ||||||
| chrX:68357400
|
C | CA | 3 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02109.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.155-58305_155-5830 others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68357400 | ||||||
| chrX:68357515
|
TC | T | 2 | a0001c0001t0001g0068a0001c0001t0001g0073 | 2 | NA19066.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.155-58420delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68357515 | ||||||
| chrX:68357587
|
A | C | 3 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02109.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.155-58491T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68357587 | ||||||
| chrX:68357701
|
T | C | 67 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(64): Show | 67 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(64): Show |
intron_variant | MODIFIER | c.155-58605A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68357701 | ||||||
| chrX:68357778
|
T | C | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.155-58682A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68357778 | ||||||
| chrX:68358128
|
T | TA | 6 | a0001c0001t0001g0071a0001c0001t0001g0088a0001c0001t0002g0125others(3): Show | 6 | HG00642.hp1 HG01243.hp1 HG01255.hp1 others(3): Show |
intron_variant | MODIFIER | c.155-59033dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68358128 | ||||||
| chrX:68358735
|
C | T | 2 | a0001c0001t0001g0079a0001c0001t0001g0090 | 2 | HG01433.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.155-59639G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68358735 | ||||||
| chrX:68358851
|
G | A | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.155-59755C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68358851 | ||||||
| chrX:68359023
|
C | T | 1 | a0001c0001t0001g0086 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.155-59927G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68359023 | ||||||
| chrX:68359579
|
G | A | 2 | a0001c0001t0004g0094a0001c0001t0004g0095 | 2 | HG03209.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.155-60483C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68359579 | ||||||
| chrX:68359594
|
A | C | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.155-60498T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68359594 | ||||||
| chrX:68359810
|
C | T | 17 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0077others(14): Show | 17 | HG00738.hp1 HG01081.hp1 HG01346.hp1 others(14): Show |
intron_variant | MODIFIER | c.155-60714G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68359810 | ||||||
| chrX:68359855
|
C | CA | 36 | a0001c0001t0001g0016a0001c0001t0001g0027a0001c0001t0001g0044others(33): Show | 36 | HG00280.hp1 HG00642.hp1 HG00735.hp1 others(33): Show |
intron_variant | MODIFIER | c.155-60760dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68359855 | ||||||
| chrX:68359855
|
C | CAA | 15 | a0001c0001t0002g0021a0001c0001t0004g0026a0001c0001t0004g0030others(12): Show | 15 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(12): Show |
intron_variant | MODIFIER | c.155-60761_155-6076 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68359855 | ||||||
| chrX:68359855
|
CA | C | 19 | a0001c0001t0001g0008a0001c0001t0001g0029a0001c0001t0001g0038others(16): Show | 19 | HG00738.hp1 HG01081.hp1 HG01169.hp2 others(16): Show |
intron_variant | MODIFIER | c.155-60760delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68359855 | ||||||
| chrX:68359857
|
A | C | 2 | a0001c0001t0001g0077a0001c0001t0016g0119 | 2 | HG02071.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.155-60761T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68359857 | ||||||
| chrX:68359858
|
A | C | 15 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0140others(12): Show | 15 | HG00738.hp1 HG01081.hp1 HG01346.hp1 others(12): Show |
intron_variant | MODIFIER | c.155-60762T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68359858 | ||||||
| chrX:68359906
|
G | A | 1 | a0001c0001t0001g0008 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.155-60810C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68359906 | ||||||
| chrX:68359930
|
C | G | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.155-60834G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68359930 | ||||||
| chrX:68360090
|
G | C | 7 | a0001c0001t0002g0115a0001c0001t0004g0026a0001c0001t0004g0030others(4): Show | 7 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.155-60994C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68360090 | ||||||
| chrX:68361015
|
C | T | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.155-61919G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68361015 | ||||||
| chrX:68361241
|
G | A | 1 | a0001c0001t0003g0113 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.155-62145C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68361241 | ||||||
| chrX:68361485
|
A | C | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.155-62389T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68361485 | ||||||
| chrX:68361510
|
A | T | 2 | a0001c0001t0001g0098a0001c0001t0028g0084 | 2 | NA18955.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.155-62414T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68361510 | ||||||
| chrX:68361863
|
C | T | 2 | a0001c0001t0004g0117a0001c0001t0005g0107 | 2 | HG01891.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.155-62767G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68361863 | ||||||
| chrX:68362437
|
T | A | 1 | a0001c0001t0022g0103 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.155-63341A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68362437 | ||||||
| chrX:68362546
|
C | T | 1 | a0001c0001t0003g0139 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.155-63450G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68362546 | ||||||
| chrX:68362580
|
C | T | 1 | a0001c0001t0015g0148 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.155-63484G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68362580 | ||||||
| chrX:68362704
|
T | G | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.155-63608A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68362704 | ||||||
| chrX:68362768
|
T | C | 30 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(27): Show | 30 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(27): Show |
intron_variant | MODIFIER | c.155-63672A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68362768 | ||||||
| chrX:68362861
|
T | C | 1 | a0001c0001t0003g0139 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.155-63765A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68362861 | ||||||
| chrX:68363308
|
C | CT | 1 | a0001c0001t0003g0035 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.155-64213dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68363308 | ||||||
| chrX:68363624
|
A | T | 3 | a0001c0001t0004g0026a0001c0001t0006g0120a0001c0001t0006g0121 | 3 | HG01167.hp1 HG01169.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.155-64528T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68363624 | ||||||
| chrX:68363961
|
C | A | 66 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(63): Show | 66 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(63): Show |
intron_variant | MODIFIER | c.155-64865G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68363961 | ||||||
| chrX:68364276
|
T | C | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.155-65180A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68364276 | ||||||
| chrX:68364574
|
T | C | 1 | a0001c0001t0003g0100 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.155-65478A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68364574 | ||||||
| chrX:68365290
|
GA | G | 3 | a0001c0001t0001g0025a0001c0001t0002g0114a0001c0001t0011g0061 | 3 | HG01515.hp1 HG02922.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.155-66195delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68365290 | ||||||
| chrX:68365363
|
A | G | 67 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(64): Show | 67 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(64): Show |
intron_variant | MODIFIER | c.155-66267T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68365363 | ||||||
| chrX:68365504
|
T | C | 28 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(25): Show | 28 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(25): Show |
intron_variant | MODIFIER | c.155-66408A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68365504 | ||||||
| chrX:68365640
|
A | G | 2 | a0001c0001t0002g0124a0001c0001t0002g0144 | 2 | HG02132.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.155-66544T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68365640 | ||||||
| chrX:68365818
|
C | CT | 32 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(29): Show | 32 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(29): Show |
intron_variant | MODIFIER | c.155-66723dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68365818 | ||||||
| chrX:68365818
|
CT | C | 1 | a0001c0001t0001g0149 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.155-66723delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68365818 | ||||||
| chrX:68365953
|
C | A | 4 | a0001c0001t0002g0115a0001c0001t0004g0004a0001c0001t0008g0096others(1): Show | 4 | HG02109.hp1 HG02145.hp1 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.155-66857G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68365953 | ||||||
| chrX:68365979
|
C | CA | 1 | a0001c0001t0001g0044 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.155-66884dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68365979 | ||||||
| chrX:68366471
|
G | A | 3 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02109.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+66396C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68366471 | ||||||
| chrX:68366703
|
C | T | 2 | a0001c0001t0001g0068a0001c0001t0001g0073 | 2 | NA19066.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.154+66164G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68366703 | ||||||
| chrX:68367079
|
G | A | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.154+65788C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68367079 | ||||||
| chrX:68367081
|
C | G | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.154+65786G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68367081 | ||||||
| chrX:68367095
|
C | T | 1 | a0001c0001t0005g0152 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.154+65772G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68367095 | ||||||
| chrX:68367185
|
T | C | 10 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(7): Show | 10 | HG02572.hp1 HG02615.hp1 HG02922.hp1 others(7): Show |
intron_variant | MODIFIER | c.154+65682A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68367185 | ||||||
| chrX:68367320
|
C | T | 2 | a0001c0001t0001g0045a0001c0001t0001g0078 | 2 | NA19085.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.154+65547G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68367320 | ||||||
| chrX:68367356
|
G | GA | 34 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0043others(31): Show | 34 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(31): Show |
intron_variant | MODIFIER | c.154+65510dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68367356 | ||||||
| chrX:68367356
|
G | GAA | 3 | a0001c0001t0001g0038a0001c0001t0002g0124a0001c0001t0002g0144 | 3 | HG02132.hp1 HG02602.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.154+65509_154+6551 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68367356 | ||||||
| chrX:68367356
|
G | GAAA | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.154+65508_154+6551 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68367356 | ||||||
| chrX:68367852
|
C | G | 67 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(64): Show | 67 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(64): Show |
intron_variant | MODIFIER | c.154+65015G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68367852 | ||||||
| chrX:68367928
|
C | T | 3 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02109.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+64939G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68367928 | ||||||
| chrX:68368232
|
G | A | 35 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0021others(32): Show | 35 | HG00280.hp1 HG01081.hp2 HG01167.hp1 others(32): Show |
intron_variant | MODIFIER | c.154+64635C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68368232 | ||||||
| chrX:68368395
|
A | C | 2 | a0001c0001t0002g0124a0001c0001t0002g0144 | 2 | HG02132.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.154+64472T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68368395 | ||||||
| chrX:68368542
|
C | CA | 1 | a0001c0001t0011g0061 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.154+64324dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68368542 | ||||||
| chrX:68368646
|
T | C | 23 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(20): Show | 23 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(20): Show |
intron_variant | MODIFIER | c.154+64221A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68368646 | ||||||
| chrX:68369132
|
C | T | 1 | a0001c0001t0030g0155 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.154+63735G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68369132 | ||||||
| chrX:68369205
|
G | GA | 4 | a0001c0001t0004g0004a0001c0001t0005g0152a0001c0001t0008g0096others(1): Show | 4 | HG02109.hp1 HG02257.hp1 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.154+63661dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68369205 | ||||||
| chrX:68369295
|
C | T | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.154+63572G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68369295 | ||||||
| chrX:68369565
|
C | T | 28 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(25): Show | 28 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(25): Show |
intron_variant | MODIFIER | c.154+63302G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68369565 | ||||||
| chrX:68369623
|
A | G | 28 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(25): Show | 28 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(25): Show |
intron_variant | MODIFIER | c.154+63244T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68369623 | ||||||
| chrX:68369718
|
A | C | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.154+63149T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68369718 | ||||||
| chrX:68369813
|
G | A | 3 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02109.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+63054C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68369813 | ||||||
| chrX:68370009
|
G | GATATATA others(25): Show |
1 | a0001c0001t0002g0124 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.154+62857_154+6285 others(36): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370009 | ||||||
| chrX:68370009
|
G | GTATATAT | 1 | a0001c0001t0003g0091 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.154+62857_154+6285 others(11): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370009 | ||||||
| chrX:68370010
|
AAAT | A | 1 | a0001c0001t0002g0133 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.154+62854_154+6285 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370010 | ||||||
| chrX:68370011
|
A | AAT | 15 | a0001c0001t0001g0017a0001c0001t0001g0028a0001c0001t0001g0048others(12): Show | 15 | HG01169.hp2 HG01934.hp1 HG02056.hp1 others(12): Show |
intron_variant | MODIFIER | c.154+62854_154+6285 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
A | AATAT | 10 | a0001c0001t0001g0008a0001c0001t0001g0044a0001c0001t0001g0052others(7): Show | 10 | HG00280.hp1 HG01346.hp1 HG02135.hp1 others(7): Show |
intron_variant | MODIFIER | c.154+62852_154+6285 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
A | AATATATA others(1): Show |
3 | a0001c0001t0002g0115a0001c0001t0003g0101a0001c0001t0020g0099 | 3 | HG00738.hp1 HG02145.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.154+62848_154+6285 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
A | AATATATA others(3): Show |
1 | a0001c0001t0004g0026 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.154+62846_154+6285 others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
A | AATATATA others(7): Show |
1 | a0001c0001t0004g0034 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.154+62842_154+6285 others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
A | AATATATA others(9): Show |
1 | a0001c0001t0004g0030 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.154+62840_154+6285 others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
A | AATATATA others(11): Show |
1 | a0001c0001t0021g0150 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.154+62838_154+6285 others(22): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
A | AATATATA others(13): Show |
3 | a0001c0001t0002g0134a0001c0001t0006g0120a0001c0001t0006g0121 | 3 | HG01167.hp1 HG01169.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.154+62836_154+6285 others(24): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
A | AATATATA others(15): Show |
3 | a0001c0001t0001g0077a0001c0001t0001g0143a0001c0001t0016g0119 | 3 | HG02071.hp1 HG02683.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.154+62834_154+6285 others(26): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
A | AATATATA others(19): Show |
3 | a0001c0001t0001g0145a0001c0001t0002g0125a0001c0001t0009g0129 | 3 | HG01243.hp1 HG01255.hp1 NA18944.hp1 |
intron_variant | MODIFIER | c.154+62830_154+6285 others(30): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
A | AATATATA others(21): Show |
3 | a0001c0001t0001g0140a0001c0001t0002g0127a0001c0001t0005g0136 | 3 | HG02717.hp1 HG03540.hp1 NA18966.hp1 |
intron_variant | MODIFIER | c.154+62828_154+6285 others(32): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
A | AATATATA others(23): Show |
2 | a0001c0001t0009g0128a0001c0001t0023g0037 | 2 | HG02451.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.154+62826_154+6285 others(34): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
A | AATATATA others(25): Show |
1 | a0001c0001t0005g0137 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.154+62824_154+6285 others(36): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
A | AATATATA others(27): Show |
3 | a0001c0001t0003g0113a0001c0001t0004g0095a0001c0001t0005g0152 | 3 | HG02630.hp2 HG02723.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.154+62855_154+6285 others(38): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
A | AATATATA others(29): Show |
3 | a0001c0001t0002g0144a0001c0001t0004g0005a0001c0001t0022g0103 | 3 | HG00735.hp2 HG01081.hp1 HG02132.hp1 |
intron_variant | MODIFIER | c.154+62855_154+6285 others(40): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
A | AATATATA others(31): Show |
3 | a0001c0001t0001g0071a0001c0001t0003g0139a0001c0001t0005g0138 | 3 | HG00642.hp1 HG02258.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.154+62855_154+6285 others(42): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
A | AATATATA others(35): Show |
1 | a0001c0001t0004g0094 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.154+62855_154+6285 others(46): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
A | AATATATA others(39): Show |
1 | a0001c0001t0001g0038 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.154+62855_154+6285 others(50): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
A | ATATATAT others(2): Show |
1 | a0001c0001t0027g0072 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.154+62855_154+6285 others(13): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
A | T | 2 | a0001c0001t0002g0124a0001c0001t0003g0091 | 2 | HG00099.hp2 NA18612.hp1 |
intron_variant | MODIFIER | c.154+62856T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
AAT | A | 11 | a0001c0001t0002g0019a0001c0001t0002g0021a0001c0001t0002g0135others(8): Show | 11 | HG02109.hp2 HG02257.hp2 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.154+62854_154+6285 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
AATAT | A | 17 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(14): Show | 17 | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(14): Show |
intron_variant | MODIFIER | c.154+62852_154+6285 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370011
|
AATATATA others(7): Show |
A | 1 | a0001c0001t0003g0151 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.154+62842_154+6285 others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370011 | ||||||
| chrX:68370199
|
A | G | 3 | a0001c0001t0002g0021a0001c0001t0007g0022a0001c0001t0007g0023 | 3 | HG02257.hp2 HG02559.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.154+62668T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370199 | ||||||
| chrX:68370506
|
CA | C | 2 | a0001c0001t0003g0063a0004c0005t0012g0024 | 2 | HG01169.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.154+62360delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68370506 | ||||||
| chrX:68371082
|
T | C | 9 | a0001c0001t0003g0101a0001c0001t0004g0004a0001c0001t0004g0010others(6): Show | 9 | HG02109.hp1 HG02257.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.154+61785A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68371082 | ||||||
| chrX:68371219
|
C | CT | 34 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0021others(31): Show | 34 | HG00280.hp1 HG00738.hp1 HG01081.hp2 others(31): Show |
intron_variant | MODIFIER | c.154+61647dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68371219 | ||||||
| chrX:68371219
|
C | CTT | 3 | a0001c0001t0001g0153a0001c0001t0005g0107a0001c0001t0007g0033 | 3 | HG02486.hp1 HG04228.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.154+61646_154+6164 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68371219 | ||||||
| chrX:68371219
|
CT | C | 6 | a0001c0001t0003g0101a0001c0001t0004g0010a0001c0001t0004g0011others(3): Show | 6 | HG02280.hp2 HG02451.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.154+61647delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68371219 | ||||||
| chrX:68371276
|
G | A | 36 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0021others(33): Show | 36 | HG00280.hp1 HG01081.hp2 HG01167.hp1 others(33): Show |
intron_variant | MODIFIER | c.154+61591C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68371276 | ||||||
| chrX:68371286
|
C | T | 2 | a0001c0001t0001g0079a0001c0001t0001g0090 | 2 | HG01433.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.154+61581G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68371286 | ||||||
| chrX:68371374
|
C | A | 28 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(25): Show | 28 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(25): Show |
intron_variant | MODIFIER | c.154+61493G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68371374 | ||||||
| chrX:68371379
|
G | T | 36 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0021others(33): Show | 36 | HG00280.hp1 HG01081.hp2 HG01167.hp1 others(33): Show |
intron_variant | MODIFIER | c.154+61488C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68371379 | ||||||
| chrX:68372024
|
T | C | 28 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(25): Show | 28 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(25): Show |
intron_variant | MODIFIER | c.154+60843A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68372024 | ||||||
| chrX:68372150
|
C | CA | 1 | a0001c0001t0001g0082 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.154+60716dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68372150 | ||||||
| chrX:68372150
|
C | T | 1 | a0001c0001t0030g0155 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.154+60717G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68372150 | ||||||
| chrX:68372379
|
T | C | 1 | a0001c0001t0029g0031 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.154+60488A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68372379 | ||||||
| chrX:68372439
|
G | A | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.154+60428C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68372439 | ||||||
| chrX:68372843
|
C | T | 1 | a0001c0001t0016g0119 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.154+60024G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68372843 | ||||||
| chrX:68373007
|
A | T | 1 | a0001c0001t0002g0019 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.154+59860T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68373007 | ||||||
| chrX:68373467
|
C | A | 1 | a0001c0001t0001g0086 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.154+59400G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68373467 | ||||||
| chrX:68373692
|
ACT | A | 1 | a0001c0001t0011g0061 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.154+59173_154+5917 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68373692 | ||||||
| chrX:68374095
|
T | C | 29 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(26): Show | 29 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(26): Show |
intron_variant | MODIFIER | c.154+58772A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68374095 | ||||||
| chrX:68374101
|
T | A | 2 | a0002c0002t0001g0002a0002c0002t0003g0001 | 2 | HG01358.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.154+58766A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68374101 | ||||||
| chrX:68374275
|
G | T | 29 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(26): Show | 29 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(26): Show |
intron_variant | MODIFIER | c.154+58592C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68374275 | ||||||
| chrX:68374336
|
C | G | 1 | a0001c0001t0002g0083 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.154+58531G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68374336 | ||||||
| chrX:68374347
|
T | C | 1 | a0001c0001t0001g0043 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.154+58520A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68374347 | ||||||
| chrX:68374354
|
C | CA | 13 | a0001c0001t0001g0038a0001c0001t0002g0019a0001c0001t0002g0021others(10): Show | 13 | HG00280.hp1 HG01891.hp1 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.154+58512dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68374354 | ||||||
| chrX:68374354
|
C | CAA | 27 | a0001c0001t0001g0008a0001c0001t0001g0071a0001c0001t0001g0077others(24): Show | 27 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(24): Show |
intron_variant | MODIFIER | c.154+58511_154+5851 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68374354 | ||||||
| chrX:68374354
|
C | CAAA | 1 | a0001c0001t0003g0139 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.154+58510_154+5851 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68374354 | ||||||
| chrX:68374354
|
CA | C | 1 | a0001c0001t0001g0025 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.154+58512delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68374354 | ||||||
| chrX:68374554
|
C | G | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.154+58313G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68374554 | ||||||
| chrX:68374561
|
A | C | 68 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(65): Show | 68 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(65): Show |
intron_variant | MODIFIER | c.154+58306T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68374561 | ||||||
| chrX:68374868
|
C | T | 1 | a0001c0001t0003g0076 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.154+57999G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68374868 | ||||||
| chrX:68375148
|
CA | C | 1 | a0002c0002t0001g0002 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.154+57718delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68375148 | ||||||
| chrX:68375150
|
A | C | 4 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003others(1): Show | 4 | HG02109.hp1 HG02257.hp1 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.154+57717T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68375150 | ||||||
| chrX:68375272
|
C | T | 1 | a0001c0001t0030g0155 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.154+57595G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68375272 | ||||||
| chrX:68375295
|
C | T | 3 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02109.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+57572G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68375295 | ||||||
| chrX:68375549
|
T | C | 3 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02109.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+57318A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68375549 | ||||||
| chrX:68375573
|
C | T | 6 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(3): Show | 6 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.154+57294G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68375573 | ||||||
| chrX:68375602
|
T | G | 68 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(65): Show | 68 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(65): Show |
intron_variant | MODIFIER | c.154+57265A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68375602 | ||||||
| chrX:68375717
|
A | AT | 63 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(60): Show | 63 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(60): Show |
intron_variant | MODIFIER | c.154+57149dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68375717 | ||||||
| chrX:68375917
|
G | A | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.154+56950C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68375917 | ||||||
| chrX:68376072
|
T | C | 63 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(60): Show | 63 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(60): Show |
intron_variant | MODIFIER | c.154+56795A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68376072 | ||||||
| chrX:68376108
|
T | C | 63 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(60): Show | 63 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(60): Show |
intron_variant | MODIFIER | c.154+56759A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68376108 | ||||||
| chrX:68376149
|
TC | T | 1 | a0001c0001t0001g0040 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.154+56717delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68376149 | ||||||
| chrX:68376326
|
G | A | 2 | a0001c0001t0001g0068a0001c0001t0001g0073 | 2 | NA19066.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.154+56541C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68376326 | ||||||
| chrX:68376563
|
A | G | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.154+56304T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68376563 | ||||||
| chrX:68376930
|
C | CT | 3 | a0001c0001t0001g0027a0001c0001t0001g0082a0001c0001t0003g0076 | 3 | HG01192.hp1 HG03710.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.154+55936dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68376930 | ||||||
| chrX:68376930
|
CT | C | 8 | a0001c0001t0002g0115a0001c0001t0004g0004a0001c0001t0004g0010others(5): Show | 8 | HG00738.hp1 HG01169.hp2 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.154+55936delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68376930 | ||||||
| chrX:68376930
|
CTT | C | 62 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(59): Show | 62 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(59): Show |
intron_variant | MODIFIER | c.154+55935_154+5593 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68376930 | ||||||
| chrX:68377014
|
C | T | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.154+55853G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68377014 | ||||||
| chrX:68377096
|
A | AT | 6 | a0001c0001t0001g0062a0001c0001t0001g0088a0001c0001t0008g0096others(3): Show | 6 | HG00738.hp1 HG02056.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.154+55770dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68377096 | ||||||
| chrX:68377096
|
AT | A | 39 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(36): Show | 39 | HG00642.hp1 HG00735.hp2 HG01081.hp1 others(36): Show |
intron_variant | MODIFIER | c.154+55770delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68377096 | ||||||
| chrX:68377096
|
ATT | A | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.154+55769_154+5577 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68377096 | ||||||
| chrX:68377114
|
T | A | 1 | a0001c0001t0001g0077 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.154+55753A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68377114 | ||||||
| chrX:68377210
|
C | A | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.154+55657G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68377210 | ||||||
| chrX:68377400
|
CT | C | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.154+55466delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68377400 | ||||||
| chrX:68377429
|
T | A | 68 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(65): Show | 68 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(65): Show |
intron_variant | MODIFIER | c.154+55438A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68377429 | ||||||
| chrX:68377518
|
T | C | 1 | a0001c0001t0001g0149 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.154+55349A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68377518 | ||||||
| chrX:68377621
|
C | T | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.154+55246G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68377621 | ||||||
| chrX:68377622
|
C | T | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.154+55245G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68377622 | ||||||
| chrX:68377715
|
A | T | 1 | a0001c0001t0001g0086 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.154+55152T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68377715 | ||||||
| chrX:68377765
|
A | C | 3 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02109.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+55102T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68377765 | ||||||
| chrX:68378115
|
T | C | 1 | a0001c0001t0017g0036 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.154+54752A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68378115 | ||||||
| chrX:68378150
|
G | A | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.154+54717C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68378150 | ||||||
| chrX:68378268
|
C | T | 1 | a0001c0001t0001g0043 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.154+54599G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68378268 | ||||||
| chrX:68378269
|
G | GA | 1 | a0001c0001t0001g0043 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.154+54597dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68378269 | ||||||
| chrX:68378373
|
T | C | 1 | a0001c0001t0001g0082 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.154+54494A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68378373 | ||||||
| chrX:68378386
|
G | C | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.154+54481C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68378386 | ||||||
| chrX:68378391
|
A | C | 1 | a0001c0001t0001g0053 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.154+54476T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68378391 | ||||||
| chrX:68378448
|
G | T | 66 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(63): Show | 66 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(63): Show |
intron_variant | MODIFIER | c.154+54419C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68378448 | ||||||
| chrX:68378449
|
G | A | 4 | a0001c0001t0002g0115a0001c0001t0004g0004a0001c0001t0008g0096others(1): Show | 4 | HG02109.hp1 HG02145.hp1 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.154+54418C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68378449 | ||||||
| chrX:68378820
|
G | C | 1 | a0001c0001t0002g0116 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.154+54047C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68378820 | ||||||
| chrX:68378959
|
A | G | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.154+53908T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68378959 | ||||||
| chrX:68378976
|
A | T | 29 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(26): Show | 29 | HG00642.hp1 HG00735.hp2 HG01081.hp1 others(26): Show |
intron_variant | MODIFIER | c.154+53891T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68378976 | ||||||
| chrX:68379148
|
C | T | 1 | a0001c0001t0001g0145 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.154+53719G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68379148 | ||||||
| chrX:68379224
|
GCTCT | G | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.154+53639_154+5364 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68379224 | ||||||
| chrX:68379427
|
C | A | 4 | a0001c0001t0002g0115a0001c0001t0004g0004a0001c0001t0008g0096others(1): Show | 4 | HG02109.hp1 HG02145.hp1 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.154+53440G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68379427 | ||||||
| chrX:68379440
|
G | T | 66 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(63): Show | 66 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(63): Show |
intron_variant | MODIFIER | c.154+53427C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68379440 | ||||||
| chrX:68379502
|
T | C | 1 | a0001c0001t0002g0108 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.154+53365A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68379502 | ||||||
| chrX:68379576
|
T | C | 1 | a0001c0001t0027g0072 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.154+53291A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68379576 | ||||||
| chrX:68379598
|
C | T | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.154+53269G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68379598 | ||||||
| chrX:68379786
|
G | C | 1 | a0001c0001t0027g0072 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.154+53081C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68379786 | ||||||
| chrX:68379811
|
G | GTGC | 66 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(63): Show | 66 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(63): Show |
intron_variant | MODIFIER | c.154+53053_154+5305 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68379811 | ||||||
| chrX:68379815
|
T | TGCC | 2 | a0001c0001t0002g0124a0001c0001t0002g0144 | 2 | HG02132.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.154+53051_154+5305 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68379815 | ||||||
| chrX:68379866
|
G | A | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.154+53001C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68379866 | ||||||
| chrX:68379875
|
G | C | 2 | a0001c0001t0001g0147a0001c0001t0003g0100 | 2 | HG01106.hp1 HG01934.hp1 |
intron_variant | MODIFIER | c.154+52992C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68379875 | ||||||
| chrX:68379931
|
G | A | 28 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(25): Show | 28 | HG00642.hp1 HG00735.hp2 HG01081.hp1 others(25): Show |
intron_variant | MODIFIER | c.154+52936C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68379931 | ||||||
| chrX:68379964
|
T | C | 67 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(64): Show | 67 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(64): Show |
intron_variant | MODIFIER | c.154+52903A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68379964 | ||||||
| chrX:68380126
|
G | A | 68 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(65): Show | 68 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(65): Show |
intron_variant | MODIFIER | c.154+52741C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68380126 | ||||||
| chrX:68380141
|
T | G | 10 | a0001c0001t0002g0115a0001c0001t0004g0004a0001c0001t0004g0026others(7): Show | 10 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(7): Show |
intron_variant | MODIFIER | c.154+52726A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68380141 | ||||||
| chrX:68380187
|
T | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.154+52680A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68380187 | ||||||
| chrX:68380194
|
T | C | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.154+52673A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68380194 | ||||||
| chrX:68380197
|
A | G | 10 | a0001c0001t0002g0115a0001c0001t0004g0004a0001c0001t0004g0026others(7): Show | 10 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(7): Show |
intron_variant | MODIFIER | c.154+52670T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68380197 | ||||||
| chrX:68380314
|
C | G | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.154+52553G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68380314 | ||||||
| chrX:68381379
|
C | T | 3 | a0001c0001t0002g0116a0001c0001t0005g0110a0001c0001t0008g0112 | 3 | HG02818.hp2 HG03540.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.154+51488G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68381379 | ||||||
| chrX:68381569
|
C | T | 28 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(25): Show | 28 | HG00642.hp1 HG00735.hp2 HG01081.hp1 others(25): Show |
intron_variant | MODIFIER | c.154+51298G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68381569 | ||||||
| chrX:68381573
|
C | G | 2 | a0001c0001t0001g0045a0001c0001t0001g0078 | 2 | NA19085.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.154+51294G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68381573 | ||||||
| chrX:68381590
|
C | T | 1 | a0001c0001t0001g0078 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.154+51277G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68381590 | ||||||
| chrX:68381818
|
CCTTT | C | 2 | a0001c0001t0008g0096a0001c0001t0019g0003 | 2 | HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+51045_154+5104 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68381818 | ||||||
| chrX:68382012
|
C | T | 67 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(64): Show | 67 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(64): Show |
intron_variant | MODIFIER | c.154+50855G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68382012 | ||||||
| chrX:68382199
|
C | T | 67 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(64): Show | 67 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(64): Show |
intron_variant | MODIFIER | c.154+50668G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68382199 | ||||||
| chrX:68382220
|
A | G | 68 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071others(65): Show | 68 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(65): Show |
intron_variant | MODIFIER | c.154+50647T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68382220 | ||||||
| chrX:68382314
|
T | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.154+50553A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68382314 | ||||||
| chrX:68382350
|
A | AAAAAT | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.154+50512_154+5051 others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68382350 | ||||||
| chrX:68382355
|
T | A | 6 | a0001c0001t0002g0019a0001c0001t0002g0021a0001c0001t0003g0018others(3): Show | 6 | HG02109.hp2 HG02257.hp2 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.154+50512A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68382355 | ||||||
| chrX:68382483
|
C | T | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.154+50384G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68382483 | ||||||
| chrX:68382746
|
C | T | 67 | a0001c0001t0001g0008a0001c0001t0001g0071a0001c0001t0001g0077others(64): Show | 67 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(64): Show |
intron_variant | MODIFIER | c.154+50121G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68382746 | ||||||
| chrX:68383318
|
G | A | 3 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02109.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+49549C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68383318 | ||||||
| chrX:68383378
|
G | T | 1 | a0001c0001t0001g0038 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.154+49489C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68383378 | ||||||
| chrX:68383421
|
G | A | 3 | a0001c0001t0002g0019a0001c0001t0003g0018a0001c0001t0003g0020 | 3 | HG02109.hp2 HG02280.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.154+49446C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68383421 | ||||||
| chrX:68383547
|
C | T | 6 | a0001c0001t0004g0026a0001c0001t0004g0030a0001c0001t0004g0034others(3): Show | 6 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(3): Show |
intron_variant | MODIFIER | c.154+49320G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68383547 | ||||||
| chrX:68383598
|
G | GA | 31 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0027others(28): Show | 31 | HG00621.hp1 HG00673.hp1 HG00735.hp1 others(28): Show |
intron_variant | MODIFIER | c.154+49268dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68383598 | ||||||
| chrX:68383598
|
G | GAA | 2 | a0001c0001t0001g0045a0001c0001t0001g0077 | 2 | HG02071.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.154+49267_154+4926 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68383598 | ||||||
| chrX:68383598
|
GA | G | 33 | a0001c0001t0001g0053a0001c0001t0002g0014a0001c0001t0002g0019others(30): Show | 33 | HG00280.hp1 HG00738.hp1 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.154+49268delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68383598 | ||||||
| chrX:68383598
|
GAA | G | 2 | a0001c0001t0002g0131a0001c0001t0019g0003 | 2 | HG02809.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.154+49267_154+4926 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68383598 | ||||||
| chrX:68383598
|
GAAAAAAA | G | 1 | a0001c0001t0008g0096 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.154+49262_154+4926 others(11): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68383598 | ||||||
| chrX:68383598
|
GAAAAAAA others(5): Show |
G | 1 | a0001c0001t0022g0103 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.154+49257_154+4926 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68383598 | ||||||
| chrX:68383865
|
A | G | 1 | a0001c0001t0001g0040 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.154+49002T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68383865 | ||||||
| chrX:68383939
|
G | C | 68 | a0001c0001t0001g0008a0001c0001t0001g0071a0001c0001t0001g0077others(65): Show | 68 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(65): Show |
intron_variant | MODIFIER | c.154+48928C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68383939 | ||||||
| chrX:68384139
|
T | C | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.154+48728A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68384139 | ||||||
| chrX:68384289
|
C | T | 68 | a0001c0001t0001g0008a0001c0001t0001g0071a0001c0001t0001g0077others(65): Show | 68 | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(65): Show |
intron_variant | MODIFIER | c.154+48578G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68384289 | ||||||
| chrX:68384535
|
T | C | 1 | a0001c0001t0003g0035 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.154+48332A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68384535 | ||||||
| chrX:68384578
|
C | T | 7 | a0001c0001t0002g0019a0001c0001t0002g0021a0001c0001t0003g0018others(4): Show | 7 | HG00280.hp1 HG02109.hp2 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.154+48289G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68384578 | ||||||
| chrX:68384721
|
C | CA | 8 | a0001c0001t0001g0025a0001c0001t0001g0064a0001c0001t0002g0115others(5): Show | 8 | HG00735.hp2 HG01515.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.154+48145dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68384721 | ||||||
| chrX:68384721
|
CA | C | 3 | a0001c0001t0001g0053a0001c0001t0001g0080a0001c0001t0001g0098 | 3 | HG03017.hp1 NA18955.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.154+48145delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68384721 | ||||||
| chrX:68384734
|
AG | A | 4 | a0001c0001t0001g0071a0001c0001t0005g0110a0001c0001t0009g0128others(1): Show | 4 | HG00642.hp1 HG01943.hp1 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.154+48132delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68384734 | ||||||
| chrX:68384735
|
G | A | 63 | a0001c0001t0001g0008a0001c0001t0001g0077a0001c0001t0001g0140others(60): Show | 63 | HG00280.hp1 HG00735.hp2 HG01081.hp1 others(60): Show |
intron_variant | MODIFIER | c.154+48132C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68384735 | ||||||
| chrX:68385067
|
T | A | 4 | a0001c0001t0002g0115a0001c0001t0004g0004a0001c0001t0008g0096others(1): Show | 4 | HG02109.hp1 HG02145.hp1 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.154+47800A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68385067 | ||||||
| chrX:68385092
|
T | C | 1 | a0001c0001t0002g0125 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.154+47775A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68385092 | ||||||
| chrX:68386236
|
A | G | 1 | a0001c0001t0001g0046 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.154+46631T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68386236 | ||||||
| chrX:68386277
|
C | A | 68 | a0001c0001t0001g0008a0001c0001t0001g0071a0001c0001t0001g0077others(65): Show | 68 | HG00099.hp1 HG00642.hp1 HG00735.hp2 others(65): Show |
intron_variant | MODIFIER | c.154+46590G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68386277 | ||||||
| chrX:68386425
|
T | C | 63 | a0001c0001t0001g0008a0001c0001t0001g0071a0001c0001t0001g0077others(60): Show | 63 | HG00099.hp1 HG00642.hp1 HG00735.hp2 others(60): Show |
intron_variant | MODIFIER | c.154+46442A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68386425 | ||||||
| chrX:68386455
|
T | TA | 1 | a0001c0001t0002g0124 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.154+46411dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68386455 | ||||||
| chrX:68386889
|
A | G | 61 | a0001c0001t0001g0008a0001c0001t0001g0071a0001c0001t0001g0077others(58): Show | 61 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(58): Show |
intron_variant | MODIFIER | c.154+45978T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68386889 | ||||||
| chrX:68386909
|
G | C | 1 | a0001c0001t0005g0137 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.154+45958C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68386909 | ||||||
| chrX:68387033
|
CT | C | 65 | a0001c0001t0001g0008a0001c0001t0001g0071a0001c0001t0001g0077others(62): Show | 65 | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(62): Show |
intron_variant | MODIFIER | c.154+45833delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68387033 | ||||||
| chrX:68387200
|
T | TTC | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+45665_154+4566 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68387200 | ||||||
| chrX:68387200
|
T | TTCTC | 34 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0021others(31): Show | 34 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(31): Show |
intron_variant | MODIFIER | c.154+45663_154+4566 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68387200 | ||||||
| chrX:68387200
|
T | TTCTCTC | 76 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(73): Show | 76 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(73): Show |
intron_variant | MODIFIER | c.154+45661_154+4566 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68387200 | ||||||
| chrX:68387200
|
T | TTCTCTCT others(1): Show |
10 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0066others(7): Show | 10 | HG00140.hp1 HG02135.hp1 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.154+45659_154+4566 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68387200 | ||||||
| chrX:68387200
|
TTC | T | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.154+45665_154+4566 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68387200 | ||||||
| chrX:68387353
|
T | C | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+45514A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68387353 | ||||||
| chrX:68387629
|
C | T | 1 | a0001c0001t0027g0072 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.154+45238G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68387629 | ||||||
| chrX:68387913
|
T | A | 1 | a0001c0001t0026g0056 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.154+44954A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68387913 | ||||||
| chrX:68388155
|
C | A | 1 | a0001c0001t0030g0155 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.154+44712G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68388155 | ||||||
| chrX:68388212
|
C | A | 1 | a0002c0002t0001g0002 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.154+44655G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68388212 | ||||||
| chrX:68388450
|
A | G | 3 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02109.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+44417T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68388450 | ||||||
| chrX:68388459
|
C | CA | 1 | a0001c0001t0001g0090 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.154+44407dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68388459 | ||||||
| chrX:68388459
|
CA | C | 7 | a0001c0001t0001g0053a0001c0001t0003g0091a0001c0001t0003g0122others(4): Show | 7 | HG00099.hp2 HG02735.hp1 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.154+44407delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68388459 | ||||||
| chrX:68388568
|
G | T | 1 | a0001c0001t0004g0034 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.154+44299C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68388568 | ||||||
| chrX:68388587
|
T | A | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+44280A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68388587 | ||||||
| chrX:68388742
|
A | T | 1 | a0001c0001t0023g0037 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.154+44125T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68388742 | ||||||
| chrX:68388960
|
A | AT | 4 | a0001c0001t0002g0115a0001c0001t0002g0133a0001c0001t0007g0032others(1): Show | 4 | HG01891.hp1 HG02145.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.154+43906dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68388960 | ||||||
| chrX:68388960
|
AT | A | 14 | a0001c0001t0002g0116a0001c0001t0002g0135a0001c0001t0003g0111others(11): Show | 14 | HG00735.hp2 HG01081.hp2 HG01167.hp1 others(11): Show |
intron_variant | MODIFIER | c.154+43906delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68388960 | ||||||
| chrX:68389121
|
A | AT | 89 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(86): Show | 89 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(86): Show |
intron_variant | MODIFIER | c.154+43745dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68389121 | ||||||
| chrX:68389459
|
CG | C | 1 | a0001c0001t0029g0031 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.154+43407delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68389459 | ||||||
| chrX:68389482
|
G | A | 1 | a0001c0001t0007g0022 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.154+43385C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68389482 | ||||||
| chrX:68389542
|
G | A | 1 | a0001c0001t0001g0038 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.154+43325C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68389542 | ||||||
| chrX:68389549
|
A | T | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.154+43318T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68389549 | ||||||
| chrX:68389568
|
A | AAAAT | 18 | a0001c0001t0002g0021a0001c0001t0002g0116a0001c0001t0002g0126others(15): Show | 18 | HG00735.hp2 HG00738.hp1 HG01891.hp1 others(15): Show |
intron_variant | MODIFIER | c.154+43295_154+4329 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68389568 | ||||||
| chrX:68389568
|
A | AAAATAAA others(1): Show |
18 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(15): Show | 18 | HG02109.hp1 HG02257.hp1 HG02258.hp1 others(15): Show |
intron_variant | MODIFIER | c.154+43291_154+4329 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68389568 | ||||||
| chrX:68389568
|
A | AAAATAAA others(5): Show |
1 | a0001c0001t0002g0125 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.154+43287_154+4329 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68389568 | ||||||
| chrX:68389568
|
AAAAT | A | 85 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(82): Show | 85 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(82): Show |
intron_variant | MODIFIER | c.154+43295_154+4329 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68389568 | ||||||
| chrX:68389657
|
T | TA | 1 | a0001c0001t0006g0105 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.154+43209dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68389657 | ||||||
| chrX:68389657
|
T | TAA | 9 | a0001c0001t0001g0027a0001c0001t0001g0060a0001c0001t0003g0101others(6): Show | 9 | HG00099.hp1 HG02015.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.154+43208_154+4320 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68389657 | ||||||
| chrX:68389657
|
T | TAAA | 74 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(71): Show | 74 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(71): Show |
intron_variant | MODIFIER | c.154+43207_154+4320 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68389657 | ||||||
| chrX:68389657
|
T | TAAAA | 3 | a0001c0001t0001g0009a0001c0001t0001g0052a0001c0001t0003g0063 | 3 | HG02135.hp1 HG04199.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.154+43206_154+4320 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68389657 | ||||||
| chrX:68390179
|
T | C | 1 | a0001c0001t0003g0035 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.154+42688A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68390179 | ||||||
| chrX:68390575
|
G | A | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+42292C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68390575 | ||||||
| chrX:68390580
|
CA | C | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+42286delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68390580 | ||||||
| chrX:68390632
|
T | G | 1 | a0001c0001t0003g0113 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.154+42235A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68390632 | ||||||
| chrX:68390903
|
A | G | 1 | a0001c0001t0001g0027 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.154+41964T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68390903 | ||||||
| chrX:68391012
|
T | TC | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+41854dupG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68391012 | ||||||
| chrX:68391375
|
T | C | 1 | a0001c0001t0001g0090 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.154+41492A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68391375 | ||||||
| chrX:68391754
|
A | G | 1 | a0001c0001t0017g0036 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.154+41113T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68391754 | ||||||
| chrX:68391886
|
C | T | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.154+40981G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68391886 | ||||||
| chrX:68391913
|
C | T | 1 | a0001c0001t0003g0100 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.154+40954G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68391913 | ||||||
| chrX:68392038
|
C | A | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.154+40829G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68392038 | ||||||
| chrX:68392520
|
A | G | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+40347T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68392520 | ||||||
| chrX:68392574
|
G | A | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.154+40293C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68392574 | ||||||
| chrX:68392790
|
A | C | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+40077T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68392790 | ||||||
| chrX:68392801
|
T | G | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+40066A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68392801 | ||||||
| chrX:68392842
|
C | T | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+40025G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68392842 | ||||||
| chrX:68392894
|
G | A | 86 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(83): Show | 86 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(83): Show |
intron_variant | MODIFIER | c.154+39973C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68392894 | ||||||
| chrX:68392897
|
A | G | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.154+39970T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68392897 | ||||||
| chrX:68393091
|
A | T | 86 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(83): Show | 86 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(83): Show |
intron_variant | MODIFIER | c.154+39776T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68393091 | ||||||
| chrX:68393117
|
G | T | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.154+39750C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68393117 | ||||||
| chrX:68393133
|
G | C | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+39734C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68393133 | ||||||
| chrX:68393173
|
C | T | 4 | a0001c0001t0002g0115a0001c0001t0004g0004a0001c0001t0008g0096others(1): Show | 4 | HG02109.hp1 HG02145.hp1 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.154+39694G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68393173 | ||||||
| chrX:68393424
|
G | A | 1 | a0001c0001t0001g0077 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.154+39443C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68393424 | ||||||
| chrX:68393634
|
C | T | 6 | a0001c0001t0003g0101a0001c0001t0004g0010a0001c0001t0004g0011others(3): Show | 6 | HG02280.hp2 HG02451.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.154+39233G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68393634 | ||||||
| chrX:68393885
|
G | GT | 12 | a0001c0001t0002g0021a0001c0001t0002g0125a0001c0001t0002g0127others(9): Show | 12 | HG01243.hp1 HG01255.hp1 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.154+38981dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68393885 | ||||||
| chrX:68393885
|
G | GTT | 3 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02109.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+38980_154+3898 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68393885 | ||||||
| chrX:68393885
|
G | GTTT | 1 | a0001c0001t0002g0115 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.154+38979_154+3898 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68393885 | ||||||
| chrX:68393885
|
G | GTTTT | 2 | a0001c0001t0001g0025a0001c0001t0001g0058 | 2 | HG01515.hp1 HG02129.hp1 |
intron_variant | MODIFIER | c.154+38978_154+3898 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68393885 | ||||||
| chrX:68393885
|
G | GTTTTT | 26 | a0001c0001t0001g0027a0001c0001t0001g0040a0001c0001t0001g0041others(23): Show | 26 | HG00099.hp2 HG00140.hp1 HG00609.hp1 others(23): Show |
intron_variant | MODIFIER | c.154+38977_154+3898 others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68393885 | ||||||
| chrX:68393885
|
G | GTTTTTT | 44 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0028others(41): Show | 44 | HG00280.hp1 HG00673.hp1 HG01069.hp1 others(41): Show |
intron_variant | MODIFIER | c.154+38976_154+3898 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68393885 | ||||||
| chrX:68393885
|
G | GTTTTTTT | 12 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0046others(9): Show | 12 | HG00621.hp1 HG01258.hp1 HG01261.hp1 others(9): Show |
intron_variant | MODIFIER | c.154+38975_154+3898 others(11): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68393885 | ||||||
| chrX:68393885
|
G | GTTTTTTT others(2): Show |
3 | a0001c0001t0001g0149a0001c0001t0003g0063a0001c0001t0027g0072 | 3 | HG00099.hp1 HG04199.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.154+38973_154+3898 others(13): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68393885 | ||||||
| chrX:68393885
|
G | GTTTTTTT others(8): Show |
1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.154+38967_154+3898 others(19): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68393885 | ||||||
| chrX:68393885
|
G | GTTTTTTT others(14): Show |
1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.154+38961_154+3898 others(25): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68393885 | ||||||
| chrX:68393885
|
GT | G | 14 | a0001c0001t0002g0014a0001c0001t0002g0116a0001c0001t0002g0126others(11): Show | 14 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(11): Show |
intron_variant | MODIFIER | c.154+38981delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68393885 | ||||||
| chrX:68393885
|
GTT | G | 6 | a0001c0001t0002g0108a0001c0001t0002g0130a0001c0001t0002g0135others(3): Show | 6 | HG02818.hp2 HG02895.hp1 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.154+38980_154+3898 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68393885 | ||||||
| chrX:68393885
|
GTTT | G | 2 | a0001c0001t0002g0114a0001c0001t0002g0131 | 2 | HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.154+38979_154+3898 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68393885 | ||||||
| chrX:68393919
|
G | A | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+38948C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68393919 | ||||||
| chrX:68393959
|
G | A | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+38908C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68393959 | ||||||
| chrX:68394005
|
C | T | 4 | a0001c0001t0002g0115a0001c0001t0004g0004a0001c0001t0008g0096others(1): Show | 4 | HG02109.hp1 HG02145.hp1 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.154+38862G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68394005 | ||||||
| chrX:68394047
|
T | C | 1 | a0001c0001t0003g0113 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.154+38820A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68394047 | ||||||
| chrX:68394050
|
C | T | 1 | a0001c0001t0003g0113 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.154+38817G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68394050 | ||||||
| chrX:68394053
|
G | C | 1 | a0001c0001t0001g0070 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.154+38814C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68394053 | ||||||
| chrX:68394102
|
C | A | 89 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(86): Show | 89 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(86): Show |
intron_variant | MODIFIER | c.154+38765G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68394102 | ||||||
| chrX:68394253
|
C | T | 89 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(86): Show | 89 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(86): Show |
intron_variant | MODIFIER | c.154+38614G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68394253 | ||||||
| chrX:68394795
|
C | T | 3 | a0001c0001t0002g0021a0001c0001t0007g0022a0001c0001t0007g0023 | 3 | HG02257.hp2 HG02559.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.154+38072G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68394795 | ||||||
| chrX:68394836
|
G | A | 1 | a0001c0001t0002g0057 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.154+38031C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68394836 | ||||||
| chrX:68394962
|
T | A | 80 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(77): Show | 80 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(77): Show |
intron_variant | MODIFIER | c.154+37905A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68394962 | ||||||
| chrX:68395033
|
G | A | 2 | a0001c0001t0002g0054a0001c0001t0002g0055 | 2 | NA18983.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.154+37834C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68395033 | ||||||
| chrX:68395117
|
C | T | 1 | a0002c0002t0003g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.154+37750G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68395117 | ||||||
| chrX:68395118
|
G | A | 1 | a0001c0001t0001g0143 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.154+37749C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68395118 | ||||||
| chrX:68395172
|
G | A | 1 | a0001c0001t0006g0121 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.154+37695C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68395172 | ||||||
| chrX:68395187
|
C | T | 1 | a0001c0001t0002g0057 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.154+37680G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68395187 | ||||||
| chrX:68395448
|
C | CT | 1 | a0001c0001t0003g0118 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.154+37418dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68395448 | ||||||
| chrX:68395448
|
CT | C | 1 | a0001c0001t0001g0141 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.154+37418delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68395448 | ||||||
| chrX:68395916
|
C | G | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.154+36951G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68395916 | ||||||
| chrX:68396267
|
C | CA | 1 | a0001c0001t0023g0037 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.154+36599dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68396267 | ||||||
| chrX:68396267
|
CA | C | 2 | a0001c0001t0001g0038a0001c0001t0003g0122 | 2 | HG02602.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+36599delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68396267 | ||||||
| chrX:68396289
|
G | T | 87 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(84): Show | 87 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(84): Show |
intron_variant | MODIFIER | c.154+36578C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68396289 | ||||||
| chrX:68396398
|
C | CA | 7 | a0001c0001t0001g0071a0001c0001t0001g0080a0001c0001t0003g0151others(4): Show | 7 | HG00642.hp1 HG00738.hp1 HG01243.hp1 others(4): Show |
intron_variant | MODIFIER | c.154+36468dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68396398 | ||||||
| chrX:68396398
|
C | CAA | 5 | a0001c0001t0002g0133a0001c0001t0004g0030a0001c0001t0004g0095others(2): Show | 5 | HG01081.hp2 HG01891.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.154+36467_154+3646 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68396398 | ||||||
| chrX:68396398
|
C | CAAA | 9 | a0001c0001t0002g0019a0001c0001t0002g0021a0001c0001t0003g0018others(6): Show | 9 | HG01167.hp1 HG01169.hp1 HG02109.hp2 others(6): Show |
intron_variant | MODIFIER | c.154+36466_154+3646 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68396398 | ||||||
| chrX:68396398
|
C | CAAAA | 1 | a0001c0001t0006g0105 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.154+36465_154+3646 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68396398 | ||||||
| chrX:68396398
|
C | CAAAAA | 1 | a0001c0001t0006g0106 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.154+36464_154+3646 others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68396398 | ||||||
| chrX:68396398
|
CA | C | 75 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(72): Show | 75 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(72): Show |
intron_variant | MODIFIER | c.154+36468delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68396398 | ||||||
| chrX:68396398
|
CAA | C | 2 | a0001c0001t0004g0010a0004c0005t0012g0024 | 2 | HG01169.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.154+36467_154+3646 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68396398 | ||||||
| chrX:68396398
|
CAAAAAAA others(1): Show |
C | 1 | a0001c0001t0004g0034 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.154+36461_154+3646 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68396398 | ||||||
| chrX:68396398
|
CAAAAAAA others(5): Show |
C | 16 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(13): Show | 16 | HG01891.hp2 HG02486.hp1 HG02572.hp1 others(13): Show |
intron_variant | MODIFIER | c.154+36457_154+3646 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68396398 | ||||||
| chrX:68396420
|
A | AAC | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+36446_154+3644 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68396420 | ||||||
| chrX:68396430
|
T | C | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+36437A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68396430 | ||||||
| chrX:68396437
|
G | A | 2 | a0001c0003t0010g0085a0001c0003t0010g0089 | 2 | HG02735.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.154+36430C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68396437 | ||||||
| chrX:68396913
|
T | G | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+35954A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68396913 | ||||||
| chrX:68397358
|
A | G | 1 | a0001c0001t0001g0149 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.154+35509T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68397358 | ||||||
| chrX:68397447
|
T | G | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+35420A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68397447 | ||||||
| chrX:68397460
|
C | CT | 18 | a0001c0001t0001g0153a0001c0001t0002g0014a0001c0001t0002g0108others(15): Show | 18 | HG00738.hp1 HG01346.hp2 HG01891.hp2 others(15): Show |
intron_variant | MODIFIER | c.154+35406dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68397460 | ||||||
| chrX:68397460
|
C | CTT | 6 | a0001c0001t0001g0048a0001c0001t0002g0135a0001c0001t0003g0118others(3): Show | 6 | HG02486.hp1 HG02572.hp1 HG02738.hp1 others(3): Show |
intron_variant | MODIFIER | c.154+35405_154+3540 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68397460 | ||||||
| chrX:68397460
|
CT | C | 14 | a0001c0001t0001g0025a0001c0001t0001g0064a0001c0001t0001g0075others(11): Show | 14 | HG00735.hp1 HG01106.hp1 HG01515.hp1 others(11): Show |
intron_variant | MODIFIER | c.154+35406delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68397460 | ||||||
| chrX:68397520
|
A | AT | 1 | a0001c0001t0001g0058 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.154+35346dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68397520 | ||||||
| chrX:68397522
|
TTA | T | 2 | a0001c0001t0001g0052a0001c0001t0001g0069 | 2 | HG00140.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.154+35343_154+3534 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68397522 | ||||||
| chrX:68397523
|
TA | T | 65 | a0001c0001t0001g0009a0001c0001t0001g0016a0001c0001t0001g0017others(62): Show | 65 | HG00099.hp2 HG00280.hp1 HG00621.hp1 others(62): Show |
intron_variant | MODIFIER | c.154+35343delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68397523 | ||||||
| chrX:68397524
|
A | T | 1 | a0001c0001t0001g0058 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.154+35343T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68397524 | ||||||
| chrX:68397524
|
AT | A | 64 | a0001c0001t0001g0015a0001c0001t0001g0045a0001c0001t0001g0050others(61): Show | 64 | HG00099.hp1 HG00609.hp1 HG00642.hp1 others(61): Show |
intron_variant | MODIFIER | c.154+35342delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68397524 | ||||||
| chrX:68397524
|
ATT | A | 2 | a0001c0001t0005g0152a0001c0001t0030g0155 | 2 | HG02630.hp2 HG02895.hp1 |
intron_variant | MODIFIER | c.154+35341_154+3534 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68397524 | ||||||
| chrX:68397524
|
ATTTTTTT others(2): Show |
A | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+35334_154+3534 others(13): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68397524 | ||||||
| chrX:68397529
|
T | A | 7 | a0001c0001t0001g0071a0001c0001t0001g0147a0001c0001t0002g0108others(4): Show | 7 | HG00642.hp1 HG01934.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.154+35338A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68397529 | ||||||
| chrX:68397561
|
T | C | 2 | a0001c0001t0007g0022a0001c0001t0007g0023 | 2 | HG02559.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.154+35306A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68397561 | ||||||
| chrX:68398078
|
G | A | 1 | a0001c0001t0001g0009 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.154+34789C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68398078 | ||||||
| chrX:68398342
|
T | C | 1 | a0001c0001t0003g0113 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.154+34525A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68398342 | ||||||
| chrX:68398458
|
C | T | 1 | a0001c0001t0001g0149 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.154+34409G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68398458 | ||||||
| chrX:68398809
|
C | T | 80 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(77): Show | 80 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(77): Show |
intron_variant | MODIFIER | c.154+34058G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68398809 | ||||||
| chrX:68398960
|
A | AGT | 22 | a0001c0001t0001g0145a0001c0001t0002g0019a0001c0001t0002g0021others(19): Show | 22 | HG00735.hp2 HG00738.hp1 HG01081.hp2 others(19): Show |
intron_variant | MODIFIER | c.154+33905_154+3390 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68398960 | ||||||
| chrX:68398960
|
A | AGTGT | 3 | a0001c0001t0001g0071a0001c0001t0001g0141a0001c0001t0007g0032 | 3 | HG00642.hp1 HG01074.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.154+33903_154+3390 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68398960 | ||||||
| chrX:68398960
|
A | AGTGTGT | 1 | a0001c0001t0021g0150 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.154+33901_154+3390 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68398960 | ||||||
| chrX:68398960
|
AGT | A | 6 | a0001c0001t0001g0029a0001c0001t0001g0053a0001c0001t0001g0058others(3): Show | 6 | HG02129.hp1 NA18974.hp1 NA18977.hp1 others(3): Show |
intron_variant | MODIFIER | c.154+33905_154+3390 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68398960 | ||||||
| chrX:68398960
|
AGTGT | A | 77 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(74): Show | 77 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(74): Show |
intron_variant | MODIFIER | c.154+33903_154+3390 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68398960 | ||||||
| chrX:68398960
|
AGTGTGT | A | 9 | a0001c0001t0001g0086a0001c0001t0002g0006a0001c0001t0003g0101others(6): Show | 9 | HG00099.hp1 HG02074.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.154+33901_154+3390 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68398960 | ||||||
| chrX:68399150
|
G | A | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+33717C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68399150 | ||||||
| chrX:68399200
|
A | T | 3 | a0001c0001t0004g0026a0001c0001t0006g0120a0001c0001t0006g0121 | 3 | HG01167.hp1 HG01169.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.154+33667T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68399200 | ||||||
| chrX:68399371
|
G | C | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+33496C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68399371 | ||||||
| chrX:68399383
|
G | C | 91 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(88): Show | 91 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(88): Show |
intron_variant | MODIFIER | c.154+33484C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68399383 | ||||||
| chrX:68399647
|
G | A | 2 | a0001c0001t0001g0079a0001c0001t0001g0090 | 2 | HG01433.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.154+33220C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68399647 | ||||||
| chrX:68399682
|
AAAAT | A | 126 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(123): Show | 126 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
intron_variant | MODIFIER | c.154+33181_154+3318 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68399682 | ||||||
| chrX:68399819
|
T | C | 1 | a0001c0001t0002g0019 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.154+33048A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68399819 | ||||||
| chrX:68399829
|
C | CT | 94 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(91): Show | 94 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(91): Show |
intron_variant | MODIFIER | c.154+33037dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68399829 | ||||||
| chrX:68400279
|
A | G | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+32588T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68400279 | ||||||
| chrX:68400458
|
C | G | 142 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(139): Show | 142 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(139): Show |
intron_variant | MODIFIER | c.154+32409G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68400458 | ||||||
| chrX:68400544
|
A | T | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+32323T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68400544 | ||||||
| chrX:68400569
|
G | A | 1 | a0001c0001t0001g0154 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.154+32298C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68400569 | ||||||
| chrX:68400601
|
TC | T | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+32265delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68400601 | ||||||
| chrX:68400602
|
C | T | 87 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(84): Show | 87 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(84): Show |
intron_variant | MODIFIER | c.154+32265G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68400602 | ||||||
| chrX:68400687
|
C | T | 1 | a0001c0001t0004g0005 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.154+32180G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68400687 | ||||||
| chrX:68400822
|
G | A | 1 | a0001c0001t0001g0043 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.154+32045C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68400822 | ||||||
| chrX:68400849
|
G | A | 1 | a0001c0001t0002g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.154+32018C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68400849 | ||||||
| chrX:68401032
|
C | T | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+31835G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68401032 | ||||||
| chrX:68401260
|
A | G | 3 | a0001c0001t0003g0113a0001c0001t0003g0122a0001c0001t0007g0032 | 3 | HG02723.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+31607T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68401260 | ||||||
| chrX:68401594
|
G | A | 1 | a0001c0001t0030g0155 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.154+31273C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68401594 | ||||||
| chrX:68401627
|
G | C | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+31240C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68401627 | ||||||
| chrX:68401772
|
T | C | 1 | a0001c0001t0001g0043 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.154+31095A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68401772 | ||||||
| chrX:68401784
|
A | G | 3 | a0001c0001t0003g0113a0001c0001t0003g0122a0001c0001t0007g0032 | 3 | HG02723.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+31083T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68401784 | ||||||
| chrX:68402016
|
C | G | 1 | a0001c0001t0015g0148 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.154+30851G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68402016 | ||||||
| chrX:68402255
|
GGAAA | G | 1 | a0001c0001t0002g0006 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.154+30608_154+3061 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68402255 | ||||||
| chrX:68402346
|
AAGGAGG | A | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+30515_154+3052 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68402346 | ||||||
| chrX:68402387
|
AAGAAG | A | 93 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(90): Show | 93 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(90): Show |
intron_variant | MODIFIER | c.154+30475_154+3047 others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68402387 | ||||||
| chrX:68402813
|
G | T | 1 | a0001c0001t0001g0062 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.154+30054C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68402813 | ||||||
| chrX:68403078
|
A | G | 126 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(123): Show | 126 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
intron_variant | MODIFIER | c.154+29789T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68403078 | ||||||
| chrX:68403268
|
T | C | 126 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(123): Show | 126 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
intron_variant | MODIFIER | c.154+29599A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68403268 | ||||||
| chrX:68403412
|
A | G | 4 | a0001c0001t0002g0115a0001c0001t0004g0004a0001c0001t0008g0096others(1): Show | 4 | HG02109.hp1 HG02145.hp1 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.154+29455T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68403412 | ||||||
| chrX:68403519
|
G | A | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+29348C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68403519 | ||||||
| chrX:68403627
|
T | C | 2 | a0001c0001t0003g0122a0001c0001t0007g0032 | 2 | HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+29240A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68403627 | ||||||
| chrX:68403630
|
C | T | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.154+29237G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68403630 | ||||||
| chrX:68403647
|
C | T | 4 | a0001c0001t0001g0052a0001c0001t0002g0019a0001c0001t0003g0018others(1): Show | 4 | HG02109.hp2 HG02135.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.154+29220G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68403647 | ||||||
| chrX:68403726
|
C | T | 1 | a0001c0001t0001g0080 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.154+29141G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68403726 | ||||||
| chrX:68403957
|
A | G | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.154+28910T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68403957 | ||||||
| chrX:68404144
|
A | G | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.154+28723T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68404144 | ||||||
| chrX:68404148
|
T | C | 3 | a0001c0001t0003g0113a0001c0001t0003g0122a0001c0001t0007g0032 | 3 | HG02723.hp2 HG03130.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+28719A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68404148 | ||||||
| chrX:68404164
|
CT | C | 1 | a0001c0001t0030g0155 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.154+28702delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68404164 | ||||||
| chrX:68404372
|
A | G | 14 | a0001c0001t0002g0019a0001c0001t0002g0021a0001c0001t0002g0133others(11): Show | 14 | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(11): Show |
intron_variant | MODIFIER | c.154+28495T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68404372 | ||||||
| chrX:68404472
|
G | A | 2 | a0001c0001t0002g0133a0001c0001t0007g0033 | 2 | HG01891.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.154+28395C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68404472 | ||||||
| chrX:68404525
|
CA | C | 1 | a0001c0001t0030g0155 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.154+28341delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68404525 | ||||||
| chrX:68404735
|
A | G | 6 | a0001c0001t0003g0101a0001c0001t0004g0010a0001c0001t0004g0011others(3): Show | 6 | HG02280.hp2 HG02451.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.154+28132T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68404735 | ||||||
| chrX:68404779
|
G | A | 1 | a0001c0001t0003g0081 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.154+28088C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68404779 | ||||||
| chrX:68405075
|
TCAC | T | 3 | a0001c0001t0004g0004a0001c0001t0008g0096a0001c0001t0019g0003 | 3 | HG02109.hp1 HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+27789_154+2779 others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68405075 | ||||||
| chrX:68405167
|
C | A | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(83): Show | 86 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(83): Show |
intron_variant | MODIFIER | c.154+27700G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68405167 | ||||||
| chrX:68405267
|
G | C | 1 | a0001c0001t0001g0064 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.154+27600C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68405267 | ||||||
| chrX:68405312
|
T | C | 3 | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0071 | 3 | HG00642.hp1 HG01346.hp1 HG02602.hp1 |
intron_variant | MODIFIER | c.154+27555A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68405312 | ||||||
| chrX:68405378
|
C | T | 7 | a0001c0001t0003g0122a0001c0001t0004g0030a0001c0001t0004g0034others(4): Show | 7 | HG01081.hp2 HG02055.hp1 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.154+27489G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68405378 | ||||||
| chrX:68405393
|
G | A | 1 | a0001c0001t0001g0143 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.154+27474C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68405393 | ||||||
| chrX:68405828
|
G | C | 1 | a0001c0001t0001g0082 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.154+27039C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68405828 | ||||||
| chrX:68405877
|
C | T | 1 | a0001c0001t0003g0111 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.154+26990G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68405877 | ||||||
| chrX:68405974
|
A | T | 2 | a0001c0001t0004g0004a0001c0001t0019g0003 | 2 | HG02109.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+26893T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68405974 | ||||||
| chrX:68406123
|
G | A | 28 | a0001c0001t0001g0132a0001c0001t0001g0140a0001c0001t0001g0143others(25): Show | 28 | HG01069.hp1 HG01081.hp2 HG01243.hp1 others(25): Show |
intron_variant | MODIFIER | c.154+26744C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68406123 | ||||||
| chrX:68406145
|
C | CA | 4 | a0001c0001t0003g0101a0001c0001t0004g0010a0001c0001t0006g0013others(1): Show | 4 | HG02451.hp2 HG02630.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.154+26721dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68406145 | ||||||
| chrX:68406145
|
CA | C | 1 | a0001c0001t0001g0048 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.154+26721delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68406145 | ||||||
| chrX:68406350
|
G | A | 3 | a0001c0001t0001g0154a0001c0001t0002g0057a0001c0001t0024g0007 | 3 | NA19000.hp1 NA19005.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.154+26517C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68406350 | ||||||
| chrX:68406567
|
A | G | 106 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(103): Show | 106 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(103): Show |
intron_variant | MODIFIER | c.154+26300T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68406567 | ||||||
| chrX:68406612
|
C | CA | 1 | a0001c0001t0003g0081 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.154+26254dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68406612 | ||||||
| chrX:68406652
|
T | C | 2 | a0001c0001t0018g0104a0001c0001t0022g0103 | 2 | HG00280.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.154+26215A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68406652 | ||||||
| chrX:68407185
|
C | A | 1 | a0001c0001t0003g0109 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.154+25682G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68407185 | ||||||
| chrX:68407205
|
AAAAT | A | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.154+25658_154+2566 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68407205 | ||||||
| chrX:68407233
|
T | A | 1 | a0001c0001t0001g0039 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.154+25634A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68407233 | ||||||
| chrX:68407365
|
T | C | 1 | a0001c0001t0001g0067 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.154+25502A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68407365 | ||||||
| chrX:68407582
|
G | T | 1 | a0001c0001t0023g0037 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.154+25285C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68407582 | ||||||
| chrX:68407690
|
G | A | 1 | a0001c0001t0005g0138 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.154+25177C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68407690 | ||||||
| chrX:68407758
|
A | G | 109 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(106): Show | 109 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(106): Show |
intron_variant | MODIFIER | c.154+25109T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68407758 | ||||||
| chrX:68408012
|
C | T | 2 | a0001c0001t0006g0120a0001c0001t0006g0121 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.154+24855G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68408012 | ||||||
| chrX:68408209
|
C | T | 85 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(82): Show | 85 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(82): Show |
intron_variant | MODIFIER | c.154+24658G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68408209 | ||||||
| chrX:68408326
|
G | C | 2 | a0001c0001t0004g0004a0001c0001t0019g0003 | 2 | HG02109.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+24541C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68408326 | ||||||
| chrX:68408479
|
T | C | 1 | a0001c0001t0001g0132 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.154+24388A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68408479 | ||||||
| chrX:68408536
|
C | G | 3 | a0001c0001t0004g0030a0001c0001t0004g0034a0001c0001t0008g0096 | 3 | HG01081.hp2 HG02055.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.154+24331G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68408536 | ||||||
| chrX:68408782
|
C | T | 2 | a0001c0001t0002g0115a0001c0001t0011g0061 | 2 | HG02145.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.154+24085G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68408782 | ||||||
| chrX:68408908
|
C | T | 6 | a0001c0001t0003g0122a0001c0001t0004g0030a0001c0001t0004g0034others(3): Show | 6 | HG01081.hp2 HG02055.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.154+23959G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68408908 | ||||||
| chrX:68409238
|
G | A | 1 | a0001c0001t0001g0040 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.154+23629C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68409238 | ||||||
| chrX:68409434
|
G | C | 1 | a0001c0001t0001g0058 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.154+23433C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68409434 | ||||||
| chrX:68409731
|
T | C | 2 | a0001c0001t0004g0004a0001c0001t0019g0003 | 2 | HG02109.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+23136A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68409731 | ||||||
| chrX:68409741
|
G | A | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.154+23126C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68409741 | ||||||
| chrX:68409811
|
C | T | 1 | a0001c0001t0007g0033 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.154+23056G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68409811 | ||||||
| chrX:68410445
|
C | G | 2 | a0001c0001t0018g0104a0001c0001t0022g0103 | 2 | HG00280.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.154+22422G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68410445 | ||||||
| chrX:68410559
|
C | CA | 2 | a0001c0001t0003g0122a0001c0003t0010g0089 | 2 | HG03688.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.154+22307dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68410559 | ||||||
| chrX:68410559
|
CA | C | 22 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(19): Show | 22 | HG00280.hp1 HG01081.hp1 HG01891.hp2 others(19): Show |
intron_variant | MODIFIER | c.154+22307delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68410559 | ||||||
| chrX:68410922
|
T | C | 1 | a0001c0001t0004g0026 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.154+21945A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68410922 | ||||||
| chrX:68410976
|
T | C | 2 | a0001c0001t0001g0154a0001c0001t0002g0057 | 2 | NA19005.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.154+21891A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68410976 | ||||||
| chrX:68411055
|
T | G | 1 | a0001c0001t0030g0155 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.154+21812A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68411055 | ||||||
| chrX:68411143
|
A | AT | 124 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(121): Show | 124 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(121): Show |
intron_variant | MODIFIER | c.154+21723dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68411143 | ||||||
| chrX:68411399
|
G | A | 1 | a0001c0001t0001g0145 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.154+21468C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68411399 | ||||||
| chrX:68411504
|
A | G | 118 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(115): Show | 118 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(115): Show |
intron_variant | MODIFIER | c.154+21363T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68411504 | ||||||
| chrX:68411557
|
G | A | 3 | a0001c0001t0002g0125a0001c0001t0009g0128a0001c0001t0009g0129 | 3 | HG01243.hp1 HG01255.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.154+21310C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68411557 | ||||||
| chrX:68411613
|
GCTGT | G | 1 | a0001c0001t0001g0070 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.154+21250_154+2125 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68411613 | ||||||
| chrX:68411889
|
G | A | 1 | a0001c0001t0013g0042 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.154+20978C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68411889 | ||||||
| chrX:68411906
|
G | A | 1 | a0001c0001t0005g0152 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.154+20961C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68411906 | ||||||
| chrX:68412422
|
T | C | 130 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(127): Show | 130 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
intron_variant | MODIFIER | c.154+20445A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68412422 | ||||||
| chrX:68412439
|
T | C | 18 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(15): Show | 18 | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(15): Show |
intron_variant | MODIFIER | c.154+20428A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68412439 | ||||||
| chrX:68412798
|
G | C | 6 | a0001c0001t0002g0019a0001c0001t0002g0021a0001c0001t0003g0018others(3): Show | 6 | HG02109.hp2 HG02257.hp2 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.154+20069C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68412798 | ||||||
| chrX:68412969
|
G | A | 1 | a0001c0001t0003g0101 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.154+19898C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68412969 | ||||||
| chrX:68413262
|
A | G | 17 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(14): Show | 17 | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(14): Show |
intron_variant | MODIFIER | c.154+19605T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68413262 | ||||||
| chrX:68413270
|
T | TG | 1 | a0001c0001t0001g0008 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.154+19596dupC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68413270 | ||||||
| chrX:68413399
|
A | G | 118 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(115): Show | 118 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(115): Show |
intron_variant | MODIFIER | c.154+19468T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68413399 | ||||||
| chrX:68413743
|
CA | C | 127 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(124): Show | 127 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(124): Show |
intron_variant | MODIFIER | c.154+19123delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68413743 | ||||||
| chrX:68413980
|
G | A | 1 | a0001c0001t0004g0117 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.154+18887C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68413980 | ||||||
| chrX:68414068
|
G | A | 1 | a0001c0001t0001g0149 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.154+18799C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68414068 | ||||||
| chrX:68414222
|
T | C | 1 | a0001c0001t0007g0033 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.154+18645A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68414222 | ||||||
| chrX:68414259
|
G | A | 127 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(124): Show | 127 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(124): Show |
intron_variant | MODIFIER | c.154+18608C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68414259 | ||||||
| chrX:68414294
|
T | C | 1 | a0001c0001t0027g0072 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.154+18573A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68414294 | ||||||
| chrX:68414466
|
C | T | 2 | a0001c0001t0018g0104a0001c0001t0022g0103 | 2 | HG00280.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.154+18401G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68414466 | ||||||
| chrX:68414482
|
T | C | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.154+18385A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68414482 | ||||||
| chrX:68414516
|
C | T | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.154+18351G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68414516 | ||||||
| chrX:68415064
|
C | A | 1 | a0001c0001t0005g0152 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.154+17803G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68415064 | ||||||
| chrX:68415220
|
TG | T | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+17646delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68415220 | ||||||
| chrX:68415338
|
CA | C | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+17528delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68415338 | ||||||
| chrX:68415493
|
GC | G | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+17373delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68415493 | ||||||
| chrX:68415494
|
C | T | 124 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(121): Show | 124 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(121): Show |
intron_variant | MODIFIER | c.154+17373G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68415494 | ||||||
| chrX:68415496
|
C | T | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+17371G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68415496 | ||||||
| chrX:68415648
|
TG | T | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+17218delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68415648 | ||||||
| chrX:68415825
|
GC | G | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+17041delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68415825 | ||||||
| chrX:68415830
|
C | T | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.154+17037G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68415830 | ||||||
| chrX:68415896
|
TC | T | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+16970delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68415896 | ||||||
| chrX:68415909
|
GGA | G | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+16956_154+1695 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68415909 | ||||||
| chrX:68415912
|
G | A | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+16955C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68415912 | ||||||
| chrX:68415949
|
AG | A | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+16917delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68415949 | ||||||
| chrX:68415952
|
T | C | 2 | a0001c0001t0004g0004a0001c0001t0019g0003 | 2 | HG02109.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+16915A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68415952 | ||||||
| chrX:68415970
|
G | A | 1 | a0001c0001t0002g0123 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.154+16897C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68415970 | ||||||
| chrX:68416010
|
G | A | 1 | a0002c0002t0001g0002 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.154+16857C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416010 | ||||||
| chrX:68416014
|
C | CA | 1 | a0001c0001t0001g0050 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.154+16852dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416014 | ||||||
| chrX:68416014
|
CA | C | 2 | a0001c0001t0001g0073a0001c0001t0020g0099 | 2 | HG00738.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.154+16852delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416014 | ||||||
| chrX:68416033
|
A | ATATATAT | 1 | a0001c0001t0006g0105 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.154+16833_154+1683 others(11): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416033 | ||||||
| chrX:68416033
|
AAT | A | 1 | a0001c0001t0003g0139 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.154+16832_154+1683 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416033 | ||||||
| chrX:68416033
|
AATAT | A | 5 | a0001c0001t0001g0132a0001c0001t0001g0145a0001c0001t0002g0134others(2): Show | 5 | HG01069.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.154+16830_154+1683 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416033 | ||||||
| chrX:68416033
|
AATATAT | A | 1 | a0001c0001t0002g0144 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.154+16828_154+1683 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416033 | ||||||
| chrX:68416033
|
AATATATA others(7): Show |
A | 1 | a0001c0001t0003g0020 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.154+16820_154+1683 others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416033 | ||||||
| chrX:68416033
|
AATATATA others(9): Show |
A | 1 | a0001c0001t0007g0033 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.154+16818_154+1683 others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416033 | ||||||
| chrX:68416043
|
TATATATA others(31): Show |
T | 1 | a0001c0001t0013g0042 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.154+16786_154+1682 others(42): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416043 | ||||||
| chrX:68416045
|
TATATATA others(31): Show |
T | 2 | a0001c0001t0001g0093a0001c0001t0026g0056 | 2 | HG00735.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.154+16784_154+1682 others(42): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416045 | ||||||
| chrX:68416047
|
TATATATA others(31): Show |
T | 19 | a0001c0001t0001g0015a0001c0001t0001g0041a0001c0001t0001g0043others(16): Show | 19 | HG00099.hp1 HG00642.hp1 HG01106.hp1 others(16): Show |
intron_variant | MODIFIER | c.154+16782_154+1681 others(42): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416047 | ||||||
| chrX:68416047
|
TATATATA others(37): Show |
T | 1 | a0001c0001t0001g0080 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.154+16776_154+1681 others(48): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416047 | ||||||
| chrX:68416049
|
TATATATA others(15): Show |
T | 1 | a0001c0001t0007g0032 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.154+16796_154+1681 others(26): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416049 | ||||||
| chrX:68416049
|
TATATATA others(29): Show |
T | 1 | a0001c0001t0001g0058 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.154+16782_154+1681 others(40): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416049 | ||||||
| chrX:68416049
|
TATATATA others(31): Show |
T | 47 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(44): Show | 47 | HG00099.hp2 HG00140.hp1 HG00609.hp1 others(44): Show |
intron_variant | MODIFIER | c.154+16780_154+1681 others(42): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416049 | ||||||
| chrX:68416051
|
TATATATA others(29): Show |
T | 1 | a0001c0001t0002g0054 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.154+16780_154+1681 others(40): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416051 | ||||||
| chrX:68416051
|
TATATATA others(31): Show |
T | 9 | a0001c0001t0001g0025a0001c0001t0001g0040a0001c0001t0001g0052others(6): Show | 9 | HG01515.hp1 HG02135.hp1 HG02300.hp1 others(6): Show |
intron_variant | MODIFIER | c.154+16778_154+1681 others(42): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416051 | ||||||
| chrX:68416053
|
TATATATA others(9): Show |
T | 1 | a0001c0001t0003g0018 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.154+16798_154+1681 others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416053 | ||||||
| chrX:68416053
|
TATATATA others(13): Show |
T | 2 | a0001c0001t0004g0030a0001c0001t0004g0034 | 2 | HG01081.hp2 HG02055.hp1 |
intron_variant | MODIFIER | c.154+16794_154+1681 others(24): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416053 | ||||||
| chrX:68416053
|
TATATATA others(15): Show |
T | 1 | a0001c0001t0008g0096 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.154+16792_154+1681 others(26): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416053 | ||||||
| chrX:68416053
|
TATATATA others(29): Show |
T | 1 | a0001c0001t0003g0076 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.154+16778_154+1681 others(40): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416053 | ||||||
| chrX:68416055
|
TATATATA others(9): Show |
T | 1 | a0001c0001t0002g0019 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.154+16796_154+1681 others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416055 | ||||||
| chrX:68416055
|
TATATATA others(17): Show |
T | 1 | a0001c0001t0004g0094 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.154+16788_154+1681 others(28): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416055 | ||||||
| chrX:68416057
|
TATATATA others(5): Show |
T | 3 | a0001c0001t0002g0014a0001c0001t0002g0127a0001c0001t0002g0131 | 3 | HG02965.hp1 HG03098.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.154+16798_154+1680 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416057 | ||||||
| chrX:68416057
|
TATATATA others(7): Show |
T | 2 | a0001c0001t0002g0124a0001c0001t0003g0151 | 2 | NA18522.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.154+16796_154+1680 others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416057 | ||||||
| chrX:68416057
|
TATATATA others(11): Show |
T | 1 | a0001c0001t0004g0004 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.154+16792_154+1680 others(22): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416057 | ||||||
| chrX:68416057
|
TATATATA others(17): Show |
T | 1 | a0001c0001t0004g0095 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.154+16786_154+1680 others(28): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416057 | ||||||
| chrX:68416057
|
TATATATA others(21): Show |
T | 1 | a0001c0001t0004g0005 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.154+16782_154+1680 others(32): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416057 | ||||||
| chrX:68416059
|
TATATATA others(3): Show |
T | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.154+16798_154+1680 others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416059 | ||||||
| chrX:68416059
|
TATATATA others(5): Show |
T | 9 | a0001c0001t0002g0108a0001c0001t0002g0115a0001c0001t0002g0116others(6): Show | 9 | HG01243.hp1 HG02145.hp1 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.154+16796_154+1680 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416059 | ||||||
| chrX:68416059
|
TATATATA others(7): Show |
T | 3 | a0001c0001t0002g0021a0001c0001t0004g0026a0001c0001t0007g0022 | 3 | HG02257.hp2 NA18906.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.154+16794_154+1680 others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416059 | ||||||
| chrX:68416059
|
TATATATA others(9): Show |
T | 1 | a0001c0001t0002g0133 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.154+16792_154+1680 others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416059 | ||||||
| chrX:68416059
|
TATATATA others(11): Show |
T | 1 | a0001c0001t0019g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.154+16790_154+1680 others(22): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416059 | ||||||
| chrX:68416059
|
TATATATA others(15): Show |
T | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.154+16786_154+1680 others(26): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416059 | ||||||
| chrX:68416061
|
TATATATA others(3): Show |
T | 1 | a0001c0001t0002g0114 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.154+16796_154+1680 others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416061 | ||||||
| chrX:68416061
|
TATATATA others(5): Show |
T | 4 | a0001c0001t0003g0113a0001c0001t0004g0117a0001c0001t0005g0107others(1): Show | 4 | HG01891.hp2 HG02486.hp1 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.154+16794_154+1680 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416061 | ||||||
| chrX:68416061
|
TATATATA others(7): Show |
T | 1 | a0001c0001t0007g0023 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.154+16792_154+1680 others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416061 | ||||||
| chrX:68416063
|
T | G | 1 | a0001c0001t0003g0139 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.154+16804A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416063 | ||||||
| chrX:68416063
|
TATATAGA others(3): Show |
T | 1 | a0001c0001t0003g0111 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.154+16794_154+1680 others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416063 | ||||||
| chrX:68416063
|
TATATAGA others(7): Show |
T | 1 | a0001c0001t0009g0128 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.154+16790_154+1680 others(18): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416063 | ||||||
| chrX:68416063
|
TATATAGA others(9): Show |
T | 1 | a0001c0001t0018g0104 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.154+16788_154+1680 others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416063 | ||||||
| chrX:68416065
|
T | G | 1 | a0001c0001t0003g0139 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.154+16802A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416065 | ||||||
| chrX:68416065
|
T | TAG | 1 | a0001c0001t0001g0146 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.154+16801_154+1680 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416065 | ||||||
| chrX:68416065
|
TATAG | T | 1 | a0001c0001t0001g0141 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.154+16798_154+1680 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416065 | ||||||
| chrX:68416065
|
TATAGAGA others(1): Show |
T | 1 | a0001c0001t0002g0125 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.154+16794_154+1680 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416065 | ||||||
| chrX:68416065
|
TATAGAGA others(3): Show |
T | 1 | a0001c0001t0005g0110 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.154+16792_154+1680 others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416065 | ||||||
| chrX:68416065
|
TATAGAGA others(9): Show |
T | 1 | a0001c0001t0022g0103 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.154+16786_154+1680 others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416065 | ||||||
| chrX:68416067
|
T | G | 5 | a0001c0001t0001g0145a0001c0001t0001g0146a0001c0001t0002g0134others(2): Show | 5 | HG02258.hp1 HG02559.hp2 HG02683.hp2 others(2): Show |
intron_variant | MODIFIER | c.154+16800A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416067 | ||||||
| chrX:68416067
|
T | TAGAG | 1 | a0001c0001t0006g0105 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.154+16796_154+1679 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416067 | ||||||
| chrX:68416067
|
T | TATATATA others(9): Show |
1 | a0001c0001t0006g0106 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.154+16799_154+1680 others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416067 | ||||||
| chrX:68416067
|
TAGAG | T | 4 | a0001c0001t0005g0136a0001c0001t0006g0120a0001c0001t0006g0121others(1): Show | 4 | HG01167.hp1 HG01169.hp1 HG01943.hp1 others(1): Show |
intron_variant | MODIFIER | c.154+16796_154+1679 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416067 | ||||||
| chrX:68416067
|
TAGAGAG | T | 1 | a0001c0001t0003g0101 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.154+16794_154+1679 others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416067 | ||||||
| chrX:68416067
|
TAGAGAGA others(1): Show |
T | 2 | a0001c0001t0004g0010a0001c0001t0006g0013 | 2 | HG02451.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.154+16792_154+1679 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416067 | ||||||
| chrX:68416067
|
TAGAGAGA others(3): Show |
T | 5 | a0001c0001t0001g0140a0001c0001t0004g0011a0001c0001t0004g0012others(2): Show | 5 | HG02280.hp2 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.154+16790_154+1679 others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416067 | ||||||
| chrX:68416067
|
TAGAGAGA others(5): Show |
T | 1 | a0001c0001t0002g0126 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.154+16788_154+1679 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416067 | ||||||
| chrX:68416067
|
TAGAGAGA others(11): Show |
T | 1 | a0001c0001t0002g0135 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.154+16782_154+1679 others(22): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416067 | ||||||
| chrX:68416069
|
G | T | 1 | a0001c0001t0001g0147 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.154+16798C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416069 | ||||||
| chrX:68416071
|
G | T | 1 | a0001c0001t0001g0147 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.154+16796C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416071 | ||||||
| chrX:68416073
|
G | T | 1 | a0001c0001t0006g0121 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.154+16794C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416073 | ||||||
| chrX:68416075
|
G | T | 1 | a0001c0001t0003g0101 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.154+16792C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416075 | ||||||
| chrX:68416077
|
G | T | 2 | a0001c0001t0003g0101a0001c0001t0006g0013 | 2 | HG02630.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.154+16790C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416077 | ||||||
| chrX:68416079
|
G | T | 5 | a0001c0001t0001g0140a0001c0001t0004g0011a0001c0001t0004g0012others(2): Show | 5 | HG02280.hp2 HG02886.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.154+16788C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416079 | ||||||
| chrX:68416081
|
G | T | 2 | a0001c0001t0001g0140a0003c0004t0014g0102 | 2 | HG02886.hp1 NA18966.hp1 |
intron_variant | MODIFIER | c.154+16786C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416081 | ||||||
| chrX:68416294
|
TG | T | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+16572delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416294 | ||||||
| chrX:68416307
|
G | A | 3 | a0001c0001t0006g0120a0001c0001t0006g0121a0001c0001t0020g0099 | 3 | HG00738.hp1 HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.154+16560C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416307 | ||||||
| chrX:68416486
|
AC | A | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+16380delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416486 | ||||||
| chrX:68416510
|
TG | T | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+16356delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416510 | ||||||
| chrX:68416523
|
AC | A | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+16343delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416523 | ||||||
| chrX:68416532
|
T | C | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.154+16335A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416532 | ||||||
| chrX:68416569
|
GC | G | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+16297delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416569 | ||||||
| chrX:68416627
|
A | T | 2 | a0001c0001t0006g0120a0001c0001t0006g0121 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.154+16240T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416627 | ||||||
| chrX:68416648
|
AC | A | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+16218delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416648 | ||||||
| chrX:68416880
|
C | T | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.154+15987G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416880 | ||||||
| chrX:68416948
|
AT | A | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+15918delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416948 | ||||||
| chrX:68416954
|
GA | G | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+15912delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416954 | ||||||
| chrX:68416990
|
AG | A | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+15876delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416990 | ||||||
| chrX:68416997
|
G | A | 3 | a0001c0001t0004g0005a0001c0001t0004g0094a0001c0001t0004g0095 | 3 | HG00735.hp2 HG03209.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.154+15870C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68416997 | ||||||
| chrX:68417075
|
A | ATATT | 1 | a0001c0001t0006g0013 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.154+15788_154+1579 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68417075 | ||||||
| chrX:68417075
|
A | ATATTTAT others(1): Show |
1 | a0001c0001t0001g0132 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.154+15784_154+1579 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68417075 | ||||||
| chrX:68417075
|
ATATT | A | 14 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(11): Show | 14 | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.154+15788_154+1579 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68417075 | ||||||
| chrX:68417075
|
ATATTTAT others(1): Show |
A | 91 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(88): Show | 91 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(88): Show |
intron_variant | MODIFIER | c.154+15784_154+1579 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68417075 | ||||||
| chrX:68417367
|
TAGGCGTG others(2): Show |
T | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+15491_154+1549 others(13): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68417367 | ||||||
| chrX:68417372
|
G | A | 2 | a0001c0001t0001g0147a0001c0001t0015g0148 | 2 | HG01934.hp1 HG01943.hp1 |
intron_variant | MODIFIER | c.154+15495C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68417372 | ||||||
| chrX:68417480
|
C | T | 6 | a0001c0001t0002g0019a0001c0001t0002g0021a0001c0001t0003g0018others(3): Show | 6 | HG02109.hp2 HG02257.hp2 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.154+15387G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68417480 | ||||||
| chrX:68417825
|
A | T | 1 | a0001c0001t0022g0103 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.154+15042T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68417825 | ||||||
| chrX:68417848
|
G | A | 6 | a0001c0001t0003g0101a0001c0001t0004g0010a0001c0001t0004g0011others(3): Show | 6 | HG02280.hp2 HG02451.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.154+15019C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68417848 | ||||||
| chrX:68417914
|
C | T | 14 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(11): Show | 14 | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.154+14953G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68417914 | ||||||
| chrX:68418083
|
G | C | 1 | a0001c0001t0004g0026 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.154+14784C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68418083 | ||||||
| chrX:68418193
|
GAAGATCC others(2): Show |
G | 2 | a0001c0001t0001g0080a0001c0001t0001g0082 | 2 | HG03017.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.154+14665_154+1467 others(13): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68418193 | ||||||
| chrX:68418270
|
C | A | 14 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(11): Show | 14 | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.154+14597G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68418270 | ||||||
| chrX:68418312
|
T | C | 1 | a0001c0001t0002g0133 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.154+14555A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68418312 | ||||||
| chrX:68418371
|
T | A | 14 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(11): Show | 14 | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.154+14496A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68418371 | ||||||
| chrX:68418544
|
CA | C | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+14322delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68418544 | ||||||
| chrX:68418701
|
T | C | 2 | a0001c0001t0004g0004a0001c0001t0019g0003 | 2 | HG02109.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+14166A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68418701 | ||||||
| chrX:68418926
|
AT | A | 3 | a0001c0001t0001g0097a0001c0001t0001g0098a0001c0001t0028g0084 | 3 | NA18955.hp1 NA18970.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.154+13940delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68418926 | ||||||
| chrX:68418932
|
G | A | 3 | a0001c0001t0001g0097a0001c0001t0001g0098a0001c0001t0028g0084 | 3 | NA18955.hp1 NA18970.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.154+13935C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68418932 | ||||||
| chrX:68418982
|
CT | C | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+13884delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68418982 | ||||||
| chrX:68419157
|
G | C | 1 | a0001c0001t0002g0127 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.154+13710C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68419157 | ||||||
| chrX:68419206
|
G | T | 1 | a0001c0001t0003g0081 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.154+13661C>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68419206 | ||||||
| chrX:68419261
|
G | A | 3 | a0001c0001t0001g0154a0001c0001t0002g0057a0001c0001t0024g0007 | 3 | NA19000.hp1 NA19005.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.154+13606C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68419261 | ||||||
| chrX:68419351
|
T | C | 125 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(122): Show | 125 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(122): Show |
intron_variant | MODIFIER | c.154+13516A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68419351 | ||||||
| chrX:68419354
|
A | G | 6 | a0001c0001t0003g0101a0001c0001t0004g0010a0001c0001t0004g0011others(3): Show | 6 | HG02280.hp2 HG02451.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.154+13513T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68419354 | ||||||
| chrX:68419538
|
A | AT | 79 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(76): Show | 79 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(76): Show |
intron_variant | MODIFIER | c.154+13328dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68419538 | ||||||
| chrX:68419538
|
A | ATT | 3 | a0001c0001t0001g0086a0001c0001t0002g0047a0001c0001t0003g0076 | 3 | HG00673.hp1 HG01192.hp1 NA19060.hp1 |
intron_variant | MODIFIER | c.154+13327_154+1332 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68419538 | ||||||
| chrX:68419538
|
AT | A | 8 | a0001c0001t0001g0132a0001c0001t0002g0019a0001c0001t0003g0122others(5): Show | 8 | HG00735.hp2 HG01069.hp1 HG02055.hp1 others(5): Show |
intron_variant | MODIFIER | c.154+13328delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68419538 | ||||||
| chrX:68419538
|
ATT | A | 3 | a0001c0001t0004g0030a0001c0001t0006g0105a0001c0001t0006g0106 | 3 | HG01081.hp2 HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.154+13327_154+1332 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68419538 | ||||||
| chrX:68419635
|
G | C | 2 | a0001c0001t0018g0104a0001c0001t0022g0103 | 2 | HG00280.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.154+13232C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68419635 | ||||||
| chrX:68419939
|
AT | A | 1 | a0001c0001t0001g0058 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.154+12927delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68419939 | ||||||
| chrX:68420159
|
C | T | 89 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(86): Show | 89 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(86): Show |
intron_variant | MODIFIER | c.154+12708G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68420159 | ||||||
| chrX:68420178
|
A | G | 104 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(101): Show | 104 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(101): Show |
intron_variant | MODIFIER | c.154+12689T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68420178 | ||||||
| chrX:68420515
|
A | G | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.154+12352T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68420515 | ||||||
| chrX:68420637
|
AT | A | 1 | a0001c0001t0001g0073 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.154+12229delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68420637 | ||||||
| chrX:68420707
|
C | A | 5 | a0001c0001t0001g0016a0001c0001t0001g0039a0001c0001t0001g0046others(2): Show | 5 | HG01256.hp1 HG01258.hp1 HG01261.hp1 others(2): Show |
intron_variant | MODIFIER | c.154+12160G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68420707 | ||||||
| chrX:68420847
|
G | GA | 23 | a0001c0001t0001g0060a0001c0001t0001g0090a0001c0001t0002g0014others(20): Show | 23 | HG00280.hp1 HG01081.hp1 HG01433.hp1 others(20): Show |
intron_variant | MODIFIER | c.154+12019dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68420847 | ||||||
| chrX:68420847
|
G | GAA | 2 | a0001c0001t0004g0004a0001c0001t0019g0003 | 2 | HG02109.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+12018_154+1201 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68420847 | ||||||
| chrX:68420847
|
GA | G | 29 | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0029others(26): Show | 29 | HG00609.hp1 HG00621.hp1 HG00673.hp1 others(26): Show |
intron_variant | MODIFIER | c.154+12019delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68420847 | ||||||
| chrX:68421094
|
G | A | 1 | a0001c0001t0002g0116 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.154+11773C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68421094 | ||||||
| chrX:68421229
|
G | C | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.154+11638C>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68421229 | ||||||
| chrX:68421465
|
GT | G | 1 | a0001c0001t0011g0061 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.154+11401delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68421465 | ||||||
| chrX:68421758
|
A | G | 89 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(86): Show | 89 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(86): Show |
intron_variant | MODIFIER | c.154+11109T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68421758 | ||||||
| chrX:68422087
|
T | C | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.154+10780A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422087 | ||||||
| chrX:68422359
|
C | T | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.154+10508G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422359 | ||||||
| chrX:68422618
|
G | GAGAA | 99 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(96): Show |
intron_variant | MODIFIER | c.154+10245_154+1024 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422618 | ||||||
| chrX:68422631
|
A | AGAAAAAG others(1): Show |
15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.154+10235_154+1023 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422631 | ||||||
| chrX:68422632
|
A | G | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.154+10235T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422632 | ||||||
| chrX:68422634
|
G | A | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.154+10233C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422634 | ||||||
| chrX:68422635
|
G | A | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.154+10232C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422635 | ||||||
| chrX:68422709
|
G | GAA | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.154+10157_154+1015 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422709 | ||||||
| chrX:68422709
|
G | GAGAA | 1 | a0001c0001t0001g0062 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.154+10154_154+1015 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422709 | ||||||
| chrX:68422711
|
GAA | G | 1 | a0001c0001t0017g0036 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.154+10154_154+1015 others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422711 | ||||||
| chrX:68422715
|
G | GA | 14 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(11): Show | 14 | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.154+10151dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422715 | ||||||
| chrX:68422716
|
A | AAAAGG | 1 | a0001c0001t0030g0155 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.154+10150_154+1015 others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422716 | ||||||
| chrX:68422716
|
AAAGAAAG others(1): Show |
A | 1 | a0001c0001t0003g0063 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.154+10143_154+1015 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422716 | ||||||
| chrX:68422720
|
A | AAAGG | 1 | a0001c0001t0002g0133 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.154+10143_154+1014 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422720 | ||||||
| chrX:68422720
|
A | G | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.154+10147T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422720 | ||||||
| chrX:68422720
|
AAAGG | A | 14 | a0001c0001t0003g0101a0001c0001t0003g0122a0001c0001t0003g0151others(11): Show | 14 | HG01081.hp2 HG02055.hp1 HG02257.hp1 others(11): Show |
intron_variant | MODIFIER | c.154+10143_154+1014 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422720 | ||||||
| chrX:68422720
|
AAAGGAAG others(1): Show |
A | 4 | a0001c0001t0004g0004a0001c0001t0018g0104a0001c0001t0019g0003others(1): Show | 4 | HG00280.hp1 HG01081.hp1 HG02109.hp1 others(1): Show |
intron_variant | MODIFIER | c.154+10139_154+1014 others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422720 | ||||||
| chrX:68422724
|
G | A | 81 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(78): Show | 81 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(78): Show |
intron_variant | MODIFIER | c.154+10143C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422724 | ||||||
| chrX:68422770
|
G | GAAGA | 90 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(87): Show | 90 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(87): Show |
intron_variant | MODIFIER | c.154+10093_154+1009 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422770 | ||||||
| chrX:68422783
|
G | A | 20 | a0001c0001t0002g0019a0001c0001t0002g0021a0001c0001t0003g0018others(17): Show | 20 | HG00280.hp1 HG01081.hp1 HG02109.hp1 others(17): Show |
intron_variant | MODIFIER | c.154+10084C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422783 | ||||||
| chrX:68422786
|
AGAGG | A | 6 | a0001c0001t0003g0101a0001c0001t0004g0010a0001c0001t0004g0011others(3): Show | 6 | HG02280.hp2 HG02451.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.154+10077_154+1008 others(8): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422786 | ||||||
| chrX:68422790
|
G | A | 14 | a0001c0001t0002g0019a0001c0001t0002g0021a0001c0001t0003g0018others(11): Show | 14 | HG00280.hp1 HG01081.hp1 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.154+10077C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422790 | ||||||
| chrX:68422794
|
G | A | 6 | a0001c0001t0003g0101a0001c0001t0004g0010a0001c0001t0004g0011others(3): Show | 6 | HG02280.hp2 HG02451.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.154+10073C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422794 | ||||||
| chrX:68422850
|
GAAAAGAA others(5): Show |
G | 2 | a0001c0001t0017g0036a0004c0005t0012g0024 | 2 | HG01169.hp2 HG01952.hp1 |
intron_variant | MODIFIER | c.154+10005_154+1001 others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68422850 | ||||||
| chrX:68423014
|
CTTTCTTT others(11): Show |
C | 86 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(83): Show | 86 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(83): Show |
intron_variant | MODIFIER | c.154+9835_154+9852d others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68423014 | ||||||
| chrX:68423018
|
C | CT | 23 | a0001c0001t0001g0140a0001c0001t0002g0019a0001c0001t0002g0021others(20): Show | 23 | HG00735.hp2 HG00738.hp1 HG01167.hp1 others(20): Show |
intron_variant | MODIFIER | c.154+9848dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68423018 | ||||||
| chrX:68423018
|
C | CTT | 2 | a0001c0001t0018g0104a0001c0001t0022g0103 | 2 | HG00280.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.154+9847_154+9848d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68423018 | ||||||
| chrX:68423018
|
CT | C | 1 | a0001c0001t0021g0150 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.154+9848delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68423018 | ||||||
| chrX:68423189
|
C | G | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.154+9678G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68423189 | ||||||
| chrX:68423258
|
C | G | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.154+9609G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68423258 | ||||||
| chrX:68423271
|
C | T | 1 | a0001c0001t0001g0140 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.154+9596G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68423271 | ||||||
| chrX:68423322
|
G | A | 2 | a0001c0001t0018g0104a0001c0001t0022g0103 | 2 | HG00280.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.154+9545C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68423322 | ||||||
| chrX:68423439
|
G | GT | 5 | a0001c0001t0001g0062a0001c0001t0001g0086a0001c0001t0001g0098others(2): Show | 5 | HG02615.hp2 HG03516.hp2 NA18955.hp1 others(2): Show |
intron_variant | MODIFIER | c.154+9427dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68423439 | ||||||
| chrX:68423439
|
GT | G | 3 | a0001c0001t0004g0094a0001c0001t0004g0095a0002c0002t0003g0001 | 3 | HG03209.hp1 HG03516.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.154+9427delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68423439 | ||||||
| chrX:68423689
|
T | G | 15 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(12): Show | 15 | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.154+9178A>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68423689 | ||||||
| chrX:68423768
|
T | C | 2 | a0001c0001t0004g0004a0001c0001t0019g0003 | 2 | HG02109.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+9099A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68423768 | ||||||
| chrX:68424168
|
A | G | 89 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(86): Show | 89 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(86): Show |
intron_variant | MODIFIER | c.154+8699T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68424168 | ||||||
| chrX:68424195
|
TA | T | 97 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(94): Show | 97 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(94): Show |
intron_variant | MODIFIER | c.154+8671delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68424195 | ||||||
| chrX:68424287
|
T | C | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.154+8580A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68424287 | ||||||
| chrX:68424334
|
C | T | 1 | a0001c0001t0003g0151 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.154+8533G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68424334 | ||||||
| chrX:68424450
|
T | C | 1 | a0001c0001t0001g0149 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.154+8417A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68424450 | ||||||
| chrX:68424472
|
T | C | 3 | a0001c0001t0004g0005a0001c0001t0004g0094a0001c0001t0004g0095 | 3 | HG00735.hp2 HG03209.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.154+8395A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68424472 | ||||||
| chrX:68424683
|
T | C | 2 | a0001c0001t0006g0105a0001c0001t0006g0106 | 2 | HG02647.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.154+8184A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68424683 | ||||||
| chrX:68425165
|
G | A | 91 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(88): Show | 91 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(88): Show |
intron_variant | MODIFIER | c.154+7702C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68425165 | ||||||
| chrX:68425229
|
T | C | 14 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(11): Show | 14 | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.154+7638A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68425229 | ||||||
| chrX:68425667
|
CT | C | 99 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(96): Show | 99 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(96): Show |
intron_variant | MODIFIER | c.154+7199delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68425667 | ||||||
| chrX:68425674
|
T | A | 24 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0021others(21): Show | 24 | HG00280.hp1 HG01081.hp1 HG01891.hp2 others(21): Show |
intron_variant | MODIFIER | c.154+7193A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68425674 | ||||||
| chrX:68425764
|
A | AT | 42 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0021others(39): Show | 42 | HG00280.hp1 HG01081.hp1 HG01081.hp2 others(39): Show |
intron_variant | MODIFIER | c.154+7102dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68425764 | ||||||
| chrX:68425764
|
A | ATT | 1 | a0001c0001t0002g0134 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.154+7101_154+7102d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68425764 | ||||||
| chrX:68425764
|
AT | A | 1 | a0001c0001t0001g0132 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.154+7102delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68425764 | ||||||
| chrX:68425812
|
C | CT | 18 | a0001c0001t0002g0019a0001c0001t0002g0108a0001c0001t0002g0114others(15): Show | 18 | HG01255.hp1 HG01891.hp2 HG02109.hp2 others(15): Show |
intron_variant | MODIFIER | c.154+7054dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68425812 | ||||||
| chrX:68425812
|
C | CTT | 10 | a0001c0001t0001g0075a0001c0001t0001g0082a0001c0001t0002g0014others(7): Show | 10 | HG00280.hp1 HG01081.hp1 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.154+7053_154+7054d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68425812 | ||||||
| chrX:68425812
|
C | CTTT | 71 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(68): Show | 71 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(68): Show |
intron_variant | MODIFIER | c.154+7052_154+7054d others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68425812 | ||||||
| chrX:68425812
|
C | CTTTT | 22 | a0001c0001t0001g0025a0001c0001t0001g0038a0001c0001t0001g0039others(19): Show | 22 | HG00735.hp2 HG01081.hp2 HG01099.hp1 others(19): Show |
intron_variant | MODIFIER | c.154+7051_154+7054d others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68425812 | ||||||
| chrX:68425812
|
C | CTTTTT | 3 | a0001c0001t0001g0017a0001c0001t0020g0099a0001c0001t0023g0037 | 3 | HG00738.hp1 HG04115.hp1 NA18971.hp1 |
intron_variant | MODIFIER | c.154+7050_154+7054d others(7): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68425812 | ||||||
| chrX:68425812
|
CT | C | 2 | a0001c0001t0002g0131a0001c0001t0006g0121 | 2 | HG01167.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.154+7054delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68425812 | ||||||
| chrX:68425947
|
C | G | 1 | a0001c0001t0001g0043 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.154+6920G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68425947 | ||||||
| chrX:68426103
|
A | G | 8 | a0001c0001t0003g0101a0001c0001t0004g0004a0001c0001t0004g0010others(5): Show | 8 | HG02109.hp1 HG02280.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.154+6764T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426103 | ||||||
| chrX:68426310
|
G | A | 1 | a0001c0001t0004g0117 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.154+6557C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426310 | ||||||
| chrX:68426549
|
G | GATATATG others(3): Show |
1 | a0001c0001t0003g0035 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.154+6317_154+6318i others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426549 | ||||||
| chrX:68426551
|
T | A | 1 | a0001c0001t0013g0042 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.154+6316A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426551 | ||||||
| chrX:68426552
|
T | TCTGACAT others(5): Show |
1 | a0001c0001t0003g0035 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.154+6314_154+6315i others(14): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426552 | ||||||
| chrX:68426552
|
T | TTA | 8 | a0001c0001t0002g0125a0001c0001t0002g0126a0001c0001t0002g0127others(5): Show | 8 | HG01255.hp1 HG01891.hp1 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.154+6313_154+6314d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426552 | ||||||
| chrX:68426552
|
T | TTATA | 4 | a0001c0001t0002g0130a0001c0001t0002g0131a0001c0001t0009g0128others(1): Show | 4 | HG01243.hp1 HG02451.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.154+6311_154+6314d others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426552 | ||||||
| chrX:68426552
|
T | TTATATAT others(11): Show |
2 | a0001c0001t0006g0120a0001c0001t0006g0121 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.154+6297_154+6314d others(20): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426552 | ||||||
| chrX:68426552
|
T | TTTTATAT others(3): Show |
4 | a0001c0001t0006g0105a0001c0001t0006g0106a0001c0001t0018g0104others(1): Show | 4 | HG00280.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.154+6314_154+6315i others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426552 | ||||||
| chrX:68426552
|
TTA | T | 19 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0021others(16): Show | 19 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.154+6313_154+6314d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426552 | ||||||
| chrX:68426556
|
A | T | 19 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0021others(16): Show | 19 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.154+6311T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426556 | ||||||
| chrX:68426569
|
T | A | 24 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0021others(21): Show | 24 | HG00280.hp1 HG01081.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.154+6298A>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426569 | ||||||
| chrX:68426569
|
T | TATATATA others(1): Show |
2 | a0001c0001t0004g0004a0001c0001t0019g0003 | 2 | HG02109.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+6297_154+6298i others(10): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426569 | ||||||
| chrX:68426569
|
T | TATATATA others(7): Show |
2 | a0001c0001t0017g0036a0004c0005t0012g0024 | 2 | HG01169.hp2 HG01952.hp1 |
intron_variant | MODIFIER | c.154+6297_154+6298i others(16): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426569 | ||||||
| chrX:68426569
|
T | TATATATA others(13): Show |
1 | a0001c0001t0004g0026 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.154+6297_154+6298i others(22): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426569 | ||||||
| chrX:68426569
|
T | TATATATA others(15): Show |
1 | a0001c0001t0001g0153 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.154+6297_154+6298i others(24): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426569 | ||||||
| chrX:68426569
|
T | TATATATA others(21): Show |
11 | a0001c0001t0001g0016a0001c0001t0001g0038a0001c0001t0001g0039others(8): Show | 11 | HG01256.hp1 HG01346.hp2 HG02602.hp1 others(8): Show |
intron_variant | MODIFIER | c.154+6297_154+6298i others(30): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426569 | ||||||
| chrX:68426569
|
T | TATATATA others(23): Show |
34 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0017others(31): Show | 34 | HG00609.hp1 HG00621.hp1 HG00673.hp1 others(31): Show |
intron_variant | MODIFIER | c.154+6297_154+6298i others(32): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426569 | ||||||
| chrX:68426569
|
T | TATATATA others(25): Show |
19 | a0001c0001t0001g0025a0001c0001t0001g0028a0001c0001t0001g0062others(16): Show | 19 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(16): Show |
intron_variant | MODIFIER | c.154+6297_154+6298i others(34): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426569 | ||||||
| chrX:68426569
|
T | TATATATA others(27): Show |
10 | a0001c0001t0001g0008a0001c0001t0001g0029a0001c0001t0001g0077others(7): Show | 10 | HG00738.hp1 HG01192.hp1 HG01346.hp1 others(7): Show |
intron_variant | MODIFIER | c.154+6297_154+6298i others(36): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426569 | ||||||
| chrX:68426569
|
T | TATATATA others(29): Show |
5 | a0001c0001t0001g0080a0001c0001t0001g0098a0001c0001t0003g0122others(2): Show | 5 | HG01081.hp2 HG03017.hp1 NA18955.hp1 others(2): Show |
intron_variant | MODIFIER | c.154+6297_154+6298i others(38): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426569 | ||||||
| chrX:68426569
|
T | TATATATA others(31): Show |
5 | a0001c0001t0003g0081a0001c0001t0003g0101a0001c0001t0004g0034others(2): Show | 5 | HG02055.hp1 HG02257.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.154+6297_154+6298i others(40): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426569 | ||||||
| chrX:68426569
|
T | TATATATA others(33): Show |
4 | a0001c0001t0001g0082a0001c0001t0004g0011a0001c0001t0007g0032others(1): Show | 4 | HG02280.hp2 HG02886.hp1 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.154+6297_154+6298i others(42): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426569 | ||||||
| chrX:68426569
|
T | TATATATA others(35): Show |
3 | a0001c0001t0002g0083a0001c0001t0004g0012a0001c0001t0006g0013 | 3 | HG02630.hp1 HG02922.hp2 NA18948.hp1 |
intron_variant | MODIFIER | c.154+6297_154+6298i others(44): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426569 | ||||||
| chrX:68426569
|
T | TATATATA others(45): Show |
1 | a0002c0002t0003g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.154+6297_154+6298i others(54): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426569 | ||||||
| chrX:68426690
|
G | A | 1 | a0001c0001t0028g0084 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.154+6177C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426690 | ||||||
| chrX:68426699
|
C | CA | 17 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(14): Show | 17 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.154+6167dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426699 | ||||||
| chrX:68426699
|
C | CAA | 3 | a0001c0001t0002g0021a0001c0001t0007g0022a0001c0001t0007g0023 | 3 | HG02257.hp2 HG02559.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.154+6166_154+6167d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426699 | ||||||
| chrX:68426699
|
C | CAAAAAAA | 2 | a0001c0001t0004g0004a0001c0001t0019g0003 | 2 | HG02109.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+6161_154+6167d others(9): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426699 | ||||||
| chrX:68426699
|
C | CAAAAAAA others(2): Show |
9 | a0001c0001t0001g0025a0001c0001t0003g0035a0001c0001t0003g0101others(6): Show | 9 | HG01099.hp1 HG01169.hp2 HG01515.hp1 others(6): Show |
intron_variant | MODIFIER | c.154+6159_154+6167d others(11): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426699 | ||||||
| chrX:68426699
|
C | CAAAAAAA others(3): Show |
74 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0017others(71): Show | 74 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(71): Show |
intron_variant | MODIFIER | c.154+6158_154+6167d others(12): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426699 | ||||||
| chrX:68426699
|
C | CAAAAAAA others(4): Show |
14 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0086others(11): Show | 14 | HG00738.hp1 HG01433.hp1 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.154+6157_154+6167d others(13): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426699 | ||||||
| chrX:68426699
|
CA | C | 2 | a0001c0001t0002g0133a0001c0001t0022g0103 | 2 | HG01081.hp1 HG01891.hp1 |
intron_variant | MODIFIER | c.154+6167delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426699 | ||||||
| chrX:68426889
|
AAC | A | 96 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(93): Show | 96 | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(93): Show |
intron_variant | MODIFIER | c.154+5976_154+5977d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426889 | ||||||
| chrX:68426890
|
AC | A | 1 | a0001c0001t0003g0091 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.154+5976delG | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426890 | ||||||
| chrX:68426891
|
CA | C | 16 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(13): Show | 16 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(13): Show |
intron_variant | MODIFIER | c.154+5975delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426891 | ||||||
| chrX:68426891
|
CAA | C | 6 | a0001c0001t0003g0101a0001c0001t0004g0010a0001c0001t0004g0011others(3): Show | 6 | HG02280.hp2 HG02451.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.154+5974_154+5975d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68426891 | ||||||
| chrX:68427089
|
T | TA | 17 | a0001c0001t0002g0014a0001c0001t0002g0019a0001c0001t0002g0108others(14): Show | 17 | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.154+5777dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68427089 | ||||||
| chrX:68427089
|
T | TAA | 24 | a0001c0001t0001g0025a0001c0001t0001g0027a0001c0001t0001g0028others(21): Show | 24 | HG00280.hp1 HG00735.hp2 HG00738.hp1 others(21): Show |
intron_variant | MODIFIER | c.154+5776_154+5777d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68427089 | ||||||
| chrX:68427089
|
T | TAAA | 78 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(75): Show | 78 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(75): Show |
intron_variant | MODIFIER | c.154+5775_154+5777d others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68427089 | ||||||
| chrX:68427089
|
T | TAAAA | 4 | a0001c0001t0001g0092a0001c0001t0001g0093a0001c0001t0004g0004others(1): Show | 4 | HG00735.hp1 HG02109.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.154+5774_154+5777d others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68427089 | ||||||
| chrX:68427123
|
C | T | 1 | a0001c0001t0016g0119 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.154+5744G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68427123 | ||||||
| chrX:68427127
|
G | A | 1 | a0001c0001t0003g0118 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.154+5740C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68427127 | ||||||
| chrX:68427267
|
C | CA | 2 | a0001c0001t0004g0094a0001c0001t0004g0095 | 2 | HG03209.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.154+5599dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68427267 | ||||||
| chrX:68427277
|
A | C | 22 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(19): Show | 22 | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.154+5590T>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68427277 | ||||||
| chrX:68427277
|
AAAC | A | 1 | a0001c0001t0008g0096 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.154+5587_154+5589d others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68427277 | ||||||
| chrX:68427292
|
C | A | 2 | a0001c0001t0004g0004a0001c0001t0019g0003 | 2 | HG02109.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+5575G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68427292 | ||||||
| chrX:68427636
|
C | T | 97 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(94): Show | 97 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(94): Show |
intron_variant | MODIFIER | c.154+5231G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68427636 | ||||||
| chrX:68427702
|
T | C | 2 | a0001c0001t0004g0004a0001c0001t0019g0003 | 2 | HG02109.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+5165A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68427702 | ||||||
| chrX:68427827
|
T | TA | 2 | a0001c0001t0006g0120a0001c0001t0006g0121 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.154+5039dupT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68427827 | ||||||
| chrX:68427827
|
TA | T | 17 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0132others(14): Show | 17 | HG00738.hp1 HG01069.hp1 HG01256.hp1 others(14): Show |
intron_variant | MODIFIER | c.154+5039delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68427827 | ||||||
| chrX:68427827
|
TAA | T | 6 | a0001c0001t0003g0101a0001c0001t0004g0010a0001c0001t0004g0011others(3): Show | 6 | HG02280.hp2 HG02451.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.154+5038_154+5039d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68427827 | ||||||
| chrX:68427896
|
T | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.154+4971A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68427896 | ||||||
| chrX:68428311
|
C | G | 4 | a0001c0001t0006g0105a0001c0001t0006g0106a0001c0001t0018g0104others(1): Show | 4 | HG00280.hp1 HG01081.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.154+4556G>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68428311 | ||||||
| chrX:68428617
|
T | C | 1 | a0001c0001t0001g0154 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.154+4250A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68428617 | ||||||
| chrX:68428749
|
AAAC | A | 2 | a0001c0001t0006g0120a0001c0001t0006g0121 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.154+4115_154+4117d others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68428749 | ||||||
| chrX:68428777
|
T | C | 105 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(102): Show | 105 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(102): Show |
intron_variant | MODIFIER | c.154+4090A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68428777 | ||||||
| chrX:68428899
|
C | T | 1 | a0001c0001t0001g0015 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.154+3968G>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68428899 | ||||||
| chrX:68429334
|
G | A | 6 | a0001c0001t0003g0101a0001c0001t0004g0010a0001c0001t0004g0011others(3): Show | 6 | HG02280.hp2 HG02451.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.154+3533C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68429334 | ||||||
| chrX:68429490
|
G | A | 13 | a0001c0001t0002g0014a0001c0001t0002g0108a0001c0001t0002g0114others(10): Show | 13 | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(10): Show |
intron_variant | MODIFIER | c.154+3377C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68429490 | ||||||
| chrX:68429499
|
GGCTT | G | 1 | a0001c0001t0001g0097 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.154+3364_154+3367d others(6): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68429499 | ||||||
| chrX:68429765
|
G | A | 97 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(94): Show | 97 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(94): Show |
intron_variant | MODIFIER | c.154+3102C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68429765 | ||||||
| chrX:68430044
|
CA | C | 96 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(93): Show | 96 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(93): Show |
intron_variant | MODIFIER | c.154+2822delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68430044 | ||||||
| chrX:68430127
|
TG | T | 7 | a0001c0001t0002g0125a0001c0001t0002g0126a0001c0001t0002g0127others(4): Show | 7 | HG01243.hp1 HG01255.hp1 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.154+2739delC | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68430127 | ||||||
| chrX:68430281
|
T | C | 1 | a0001c0001t0020g0099 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.154+2586A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68430281 | ||||||
| chrX:68430463
|
C | A | 97 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(94): Show | 97 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(94): Show |
intron_variant | MODIFIER | c.154+2404G>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68430463 | ||||||
| chrX:68430511
|
T | C | 123 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(120): Show | 123 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show |
intron_variant | MODIFIER | c.154+2356A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68430511 | ||||||
| chrX:68430527
|
A | T | 6 | a0001c0001t0003g0101a0001c0001t0004g0010a0001c0001t0004g0011others(3): Show | 6 | HG02280.hp2 HG02451.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.154+2340T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68430527 | ||||||
| chrX:68430549
|
G | A | 1 | a0001c0001t0003g0100 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.154+2318C>T | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68430549 | ||||||
| chrX:68430837
|
GA | G | 6 | a0001c0001t0003g0101a0001c0001t0004g0010a0001c0001t0004g0011others(3): Show | 6 | HG02280.hp2 HG02451.hp2 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.154+2029delT | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68430837 | ||||||
| chrX:68431583
|
A | AT | 21 | a0001c0001t0002g0108a0001c0001t0002g0114a0001c0001t0002g0115others(18): Show | 21 | HG00280.hp1 HG01081.hp1 HG01891.hp2 others(18): Show |
intron_variant | MODIFIER | c.154+1283dupA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68431583 | ||||||
| chrX:68431583
|
A | ATT | 95 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(92): Show | 95 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(92): Show |
intron_variant | MODIFIER | c.154+1282_154+1283d others(4): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68431583 | ||||||
| chrX:68431583
|
A | ATTT | 5 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0002g0006others(2): Show | 5 | HG00735.hp2 HG01346.hp1 HG02074.hp1 others(2): Show |
intron_variant | MODIFIER | c.154+1281_154+1283d others(5): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68431583 | ||||||
| chrX:68431583
|
AT | A | 2 | a0001c0001t0004g0004a0001c0001t0019g0003 | 2 | HG02109.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+1283delA | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68431583 | ||||||
| chrX:68431633
|
A | G | 1 | a0001c0001t0002g0123 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.154+1234T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68431633 | ||||||
| chrX:68431650
|
A | T | 2 | a0001c0001t0004g0004a0001c0001t0019g0003 | 2 | HG02109.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.154+1217T>A | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68431650 | ||||||
| chrX:68432081
|
T | C | 1 | a0001c0001t0003g0122 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.154+786A>G | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68432081 | ||||||
| chrX:68432671
|
A | G | 124 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0015others(121): Show | 124 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(121): Show |
intron_variant | MODIFIER | c.154+196T>C | OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68432671 | ||||||
| chrX:68432716
|
T | TATC | 1 | a0001c0001t0001g0154 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.154+148_154+150dup others(3): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | 68432716 |