Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 1287 |
|---|---|
| ensemblid | ENSG00000188153.14 |
| hgncid | 2207 |
| symbol | COL4A5 |
| name | collagen type IV alpha 5 chain |
| refseq_nuc | NM_033380.3 |
| refseq_prot | NP_203699.1 |
| ensembl_nuc | ENST00000328300.11 |
| ensembl_prot | ENSP00000331902.7 |
| mane_status | MANE Select |
| chr | chrX |
| start | 108439838 |
| end | 108697545 |
| strand | + |
| ver | v1.2 |
| region | chrX:108439838-108697545 |
| region5000 | chrX:108434838-108702545 |
| regionname0 | COL4A5_chrX_108439838_108697545 |
| regionname5000 | COL4A5_chrX_108434838_108702545 |
| 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 | 1/1 | 1691 | 197 | 43 | 36 | 87 | 9 | 20 | 63 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0002 | 0/0 | 1691 | 53 | 26 | 2 | 23 | 0 | 2 | 18 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0003 | 0/0 | 1691 | 5 | 0 | 0 | 5 | 0 | 0 | 5 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0004 | 0/0 | 1691 | 3 | 0 | 0 | 3 | 0 | 0 | 3 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0005 | 0/0 | 1691 | 2 | 0 | 0 | 2 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0006 | 0/0 | 472 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0007 | 0/0 | 1691 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0008 | 0/0 | 1691 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0009 | 0/0 | 1691 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0010 | 0/0 | 1691 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0011 | 0/0 | 1691 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0012 | 0/0 | 1691 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0013 | 0/0 | 1083 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0014 | 0/0 | 156 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| 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 | 1/1 | 5076 | 184 | 32 | 35 | 86 | 9 | 20 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| c0002 | 0/0 | 5076 | 47 | 21 | 2 | 22 | 0 | 2 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| c0003 | 0/0 | 5076 | 12 | 11 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| c0004 | 0/0 | 5076 | 5 | 4 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| c0005 | 0/0 | 5076 | 5 | 0 | 0 | 5 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| c0006 | 0/0 | 5076 | 3 | 0 | 0 | 3 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| c0007 | 0/0 | 5076 | 2 | 0 | 0 | 2 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| c0008 | 0/0 | 5077 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| c0009 | 0/0 | 5076 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| c0010 | 0/0 | 5076 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| c0011 | 0/0 | 5076 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| c0012 | 0/0 | 5076 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| c0013 | 0/0 | 5076 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| c0014 | 0/0 | 5076 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| c0015 | 0/0 | 5076 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| c0016 | 0/0 | 5076 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| c0017 | 0/0 | 5075 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| c0018 | 0/0 | 5077 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| 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 | 1/1 | 1456 | 254 | 64 | 37 | 120 | 8 | 23 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| t0002 | 0/0 | 1456 | 2 | 2 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| t0003 | 0/0 | 1456 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| t0004 | 0/0 | 1456 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| t0005 | 0/0 | 1456 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| t0006 | 0/0 | 1456 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| t0007 | 0/0 | 1456 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| t0008 | 0/0 | 1456 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| t0009 | 0/0 | 1456 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| t0010 | 0/0 | 1456 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| t0011 | 0/0 | 1456 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| t0012 | 0/0 | 1456 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| t0013 | 0/0 | 1455 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| t0014 | 0/0 | 1456 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| t0015 | 0/0 | 1453 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| 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 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0076 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0122 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0132 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0148 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0158 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0171 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0174 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0181 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0182 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0184 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0191 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0194 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0197 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0198 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0199 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0200 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0209 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0210 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0229 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0232 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0235 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0241 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0254 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0255 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0256 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0257 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0258 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0259 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0261 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0262 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0265 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0266 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0268 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| 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 | 1/1 | 5076 | 184 | 32 | 35 | 86 | 9 | 20 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0001c0003 | 0/0 | 5076 | 12 | 11 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0001c0012 | 0/0 | 5076 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0002c0002 | 0/0 | 5076 | 47 | 21 | 2 | 22 | 0 | 2 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0002c0004 | 0/0 | 5076 | 5 | 4 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0002c0009 | 0/0 | 5076 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0003c0005 | 0/0 | 5076 | 5 | 0 | 0 | 5 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0004c0006 | 0/0 | 5076 | 3 | 0 | 0 | 3 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0005c0007 | 0/0 | 5076 | 2 | 0 | 0 | 2 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0006c0017 | 0/0 | 5075 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0007c0013 | 0/0 | 5076 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0008c0014 | 0/0 | 5076 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0009c0015 | 0/0 | 5076 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0010c0016 | 0/0 | 5076 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0011c0010 | 0/0 | 5076 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0012c0011 | 0/0 | 5076 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0013c0018 | 0/0 | 5077 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0014c0008 | 0/0 | 5077 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 6531 | 176 | 30 | 34 | 85 | 8 | 17 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0001c0001t0004 | 0/0 | 6531 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0001c0001t0005 | 0/0 | 6531 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0001c0001t0006 | 0/0 | 6531 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0001c0001t0008 | 0/0 | 6531 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0001c0001t0009 | 0/0 | 6531 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0001c0001t0010 | 0/0 | 6531 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0001c0001t0011 | 0/0 | 6531 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0001c0001t0015 | 0/0 | 6528 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0001c0003t0001 | 0/0 | 6531 | 11 | 10 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0001c0003t0007 | 0/0 | 6531 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0001c0012t0001 | 0/0 | 6531 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0002c0002t0001 | 0/0 | 6531 | 46 | 21 | 2 | 21 | 0 | 2 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0002c0002t0013 | 0/0 | 6530 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0002c0004t0001 | 0/0 | 6531 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0002c0004t0002 | 0/0 | 6531 | 2 | 2 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0002c0004t0003 | 0/0 | 6531 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0002c0004t0012 | 0/0 | 6531 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0002c0009t0001 | 0/0 | 6531 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0003c0005t0001 | 0/0 | 6531 | 4 | 0 | 0 | 4 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0003c0005t0014 | 0/0 | 6531 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0004c0006t0001 | 0/0 | 6531 | 3 | 0 | 0 | 3 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0005c0007t0001 | 0/0 | 6531 | 2 | 0 | 0 | 2 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0006c0017t0001 | 0/0 | 6530 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0007c0013t0001 | 0/0 | 6531 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0008c0014t0001 | 0/0 | 6531 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0009c0015t0001 | 0/0 | 6531 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0010c0016t0001 | 0/0 | 6531 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0011c0010t0001 | 0/0 | 6531 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0012c0011t0001 | 0/0 | 6531 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0013c0018t0001 | 0/0 | 6532 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| a0014c0008t0001 | 0/0 | 6532 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | copy fasta | chrX | 108434838 | 108702545 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0132 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0200 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0229 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0232 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0235 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0241 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0254 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0255 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0256 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0257 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0258 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0259 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0265 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0266 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0004g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0005g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0006g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0008g0181 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0009g0210 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0010g0198 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0011g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0015g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0007g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0012t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0268 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0013g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0004t0001g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0004t0002g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0004t0002g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0004t0003g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0004t0012g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0009t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0003c0005t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0003c0005t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0003c0005t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0003c0005t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0003c0005t0014g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0004c0006t0001g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0004c0006t0001g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0004c0006t0001g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0005c0007t0001g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0005c0007t0001g0262 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0006c0017t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0007c0013t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0008c0014t0001g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0009c0015t0001g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0010c0016t0001g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0011c0010t0001g0261 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0012c0011t0001g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0013c0018t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0014c0008t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0229 | EUR | GBR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00099 | hp2 | a0001 | c0001 | t0010 | g0198 | EUR | GBR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0184 | EUR | GBR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0191 | EUR | FIN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00408 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0253 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0189 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00423 | hp2 | a0001 | c0001 | t0001 | g0177 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00438 | hp1 | a0014 | c0008 | t0001 | g0162 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0092 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0178 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0079 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0081 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0117 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0096 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0095 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00733 | hp1 | a0001 | c0001 | t0001 | g0139 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0058 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0235 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0176 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0254 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0106 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0187 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0107 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0186 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0120 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01081 | hp2 | a0001 | c0001 | t0001 | g0108 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0232 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01106 | hp1 | a0001 | c0003 | t0001 | g0212 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0121 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01167 | hp1 | a0001 | c0001 | t0001 | g0192 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0160 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0190 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0155 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0206 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0255 | AMR | CLM | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0228 | AMR | CLM | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0258 | AMR | CLM | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0165 | AMR | CLM | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0266 | AMR | CLM | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01433 | hp1 | a0001 | c0001 | t0005 | g0185 | AMR | CLM | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0158 | EUR | IBS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0259 | EUR | IBS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0171 | EUR | IBS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0159 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01884 | hp2 | a0001 | c0003 | t0001 | g0211 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0161 | AMR | PEL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0144 | AMR | PEL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0138 | AMR | PEL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0115 | AMR | PEL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0133 | AMR | PEL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01975 | hp2 | a0002 | c0002 | t0001 | g0021 | AMR | PEL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0094 | AMR | PEL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01978 | hp2 | a0002 | c0002 | t0001 | g0020 | AMR | PEL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0134 | AMR | PEL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0257 | AMR | PEL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0157 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0104 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0170 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02055 | hp1 | a0002 | c0004 | t0001 | g0263 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0056 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0045 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0151 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02080 | hp2 | a0002 | c0004 | t0003 | g0042 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02083 | hp1 | a0002 | c0002 | t0001 | g0022 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0172 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0057 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02145 | hp1 | a0001 | c0003 | t0001 | g0218 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0233 | EAS | CDX | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02155 | hp2 | a0002 | c0002 | t0001 | g0016 | EAS | CDX | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0055 | EAS | CDX | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02165 | hp2 | a0002 | c0002 | t0001 | g0015 | EAS | CDX | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0051 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02257 | hp2 | a0002 | c0002 | t0001 | g0002 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02258 | hp1 | a0001 | c0003 | t0001 | g0219 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02451 | hp1 | a0002 | c0002 | t0001 | g0005 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0152 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02523 | hp1 | a0005 | c0007 | t0001 | g0262 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0269 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0207 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0137 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02622 | hp1 | a0002 | c0004 | t0002 | g0073 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02622 | hp2 | a0002 | c0002 | t0001 | g0069 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02630 | hp1 | a0008 | c0014 | t0001 | g0252 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0169 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02647 | hp1 | a0001 | c0003 | t0001 | g0217 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0153 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02683 | hp2 | a0001 | c0001 | t0008 | g0181 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02698 | hp1 | a0001 | c0001 | t0015 | g0075 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0204 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0166 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02723 | hp2 | a0002 | c0002 | t0001 | g0040 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0265 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0146 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0195 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0240 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0124 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02818 | hp2 | a0002 | c0002 | t0001 | g0038 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02886 | hp1 | a0002 | c0002 | t0001 | g0004 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0208 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02895 | hp1 | a0001 | c0003 | t0001 | g0062 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02897 | hp1 | a0001 | c0003 | t0001 | g0063 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02897 | hp2 | a0001 | c0001 | t0004 | g0059 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02922 | hp1 | a0002 | c0002 | t0001 | g0066 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02922 | hp2 | a0002 | c0002 | t0001 | g0036 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02965 | hp1 | a0001 | c0003 | t0001 | g0214 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0248 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02970 | hp2 | a0002 | c0002 | t0001 | g0007 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0188 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0061 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0149 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0163 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03041 | hp2 | a0002 | c0002 | t0001 | g0035 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03098 | hp1 | a0002 | c0009 | t0001 | g0009 | AFR | MSL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03130 | hp1 | a0002 | c0002 | t0001 | g0039 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0249 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0074 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03195 | hp2 | a0002 | c0002 | t0001 | g0037 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0242 | AFR | MSL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03225 | hp1 | a0001 | c0003 | t0001 | g0216 | AFR | MSL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03453 | hp1 | a0002 | c0002 | t0001 | g0006 | AFR | MSL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0131 | AFR | MSL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03486 | hp1 | a0002 | c0004 | t0002 | g0071 | AFR | MSL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03486 | hp2 | a0002 | c0002 | t0001 | g0068 | AFR | MSL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03490 | hp1 | a0012 | c0011 | t0001 | g0201 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03491 | hp1 | a0002 | c0002 | t0001 | g0025 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0122 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03492 | hp1 | a0002 | c0002 | t0001 | g0013 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0167 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03516 | hp2 | a0002 | c0002 | t0001 | g0008 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03540 | hp1 | a0002 | c0004 | t0012 | g0072 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0251 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0238 | AFR | MSL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0101 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0076 | SAS | STU | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0156 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0199 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0256 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03927 | hp1 | a0001 | c0001 | t0009 | g0210 | SAS | BEB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0125 | SAS | BEB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0182 | SAS | BEB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0209 | SAS | STU | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG04184 | hp1 | a0009 | c0015 | t0001 | g0103 | SAS | BEB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG04184 | hp2 | a0010 | c0016 | t0001 | g0175 | SAS | BEB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0174 | SAS | STU | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0241 | SAS | STU | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG04228 | hp1 | a0011 | c0010 | t0001 | g0261 | SAS | STU | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0064 | AFR | YRI | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18612 | hp1 | a0002 | c0002 | t0001 | g0267 | EAS | CHB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0127 | EAS | CHB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0168 | AFR | YRI | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0060 | AFR | YRI | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18939 | hp1 | a0001 | c0001 | t0001 | g0243 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18939 | hp2 | a0001 | c0001 | t0001 | g0091 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18940 | hp1 | a0001 | c0001 | t0001 | g0264 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18941 | hp1 | a0002 | c0002 | t0001 | g0027 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18941 | hp2 | a0001 | c0001 | t0001 | g0236 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18942 | hp1 | a0001 | c0001 | t0001 | g0086 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18942 | hp2 | a0007 | c0013 | t0001 | g0126 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0196 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18944 | hp1 | a0002 | c0002 | t0001 | g0067 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0048 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18947 | hp1 | a0001 | c0001 | t0001 | g0119 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18947 | hp2 | a0001 | c0012 | t0001 | g0077 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0078 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18949 | hp1 | a0002 | c0002 | t0001 | g0014 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18949 | hp2 | a0013 | c0018 | t0001 | g0111 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18951 | hp1 | a0002 | c0002 | t0001 | g0012 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18951 | hp2 | a0003 | c0005 | t0001 | g0114 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0136 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18953 | hp1 | a0001 | c0001 | t0001 | g0143 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18957 | hp1 | a0001 | c0001 | t0001 | g0222 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18957 | hp2 | a0002 | c0002 | t0001 | g0017 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18959 | hp1 | a0003 | c0005 | t0014 | g0110 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18960 | hp1 | a0002 | c0002 | t0001 | g0032 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0140 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0234 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0049 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18967 | hp1 | a0002 | c0002 | t0001 | g0023 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18969 | hp1 | a0002 | c0002 | t0013 | g0031 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18969 | hp2 | a0003 | c0005 | t0001 | g0112 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0054 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0047 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18973 | hp1 | a0001 | c0001 | t0001 | g0223 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18973 | hp2 | a0001 | c0001 | t0001 | g0097 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18974 | hp1 | a0003 | c0005 | t0001 | g0109 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0123 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18979 | hp1 | a0001 | c0001 | t0001 | g0128 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18979 | hp2 | a0001 | c0001 | t0001 | g0099 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18981 | hp1 | a0001 | c0001 | t0001 | g0085 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18981 | hp2 | a0002 | c0002 | t0001 | g0030 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18982 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0225 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18984 | hp1 | a0002 | c0002 | t0001 | g0033 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18985 | hp1 | a0001 | c0001 | t0001 | g0226 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18986 | hp1 | a0002 | c0002 | t0001 | g0019 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18988 | hp1 | a0004 | c0006 | t0001 | g0244 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18989 | hp1 | a0001 | c0001 | t0001 | g0129 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18990 | hp1 | a0004 | c0006 | t0001 | g0245 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18993 | hp1 | a0001 | c0001 | t0001 | g0179 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18993 | hp2 | a0001 | c0001 | t0001 | g0098 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0135 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0082 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18998 | hp1 | a0001 | c0001 | t0001 | g0053 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18998 | hp2 | a0002 | c0002 | t0001 | g0024 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18999 | hp1 | a0001 | c0001 | t0001 | g0090 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18999 | hp2 | a0002 | c0002 | t0001 | g0028 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19003 | hp1 | a0004 | c0006 | t0001 | g0246 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19003 | hp2 | a0001 | c0001 | t0001 | g0080 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19004 | hp1 | a0005 | c0007 | t0001 | g0260 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0224 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19006 | hp1 | a0001 | c0001 | t0001 | g0173 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0150 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0044 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0247 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19030 | hp1 | a0002 | c0002 | t0001 | g0268 | AFR | LWK | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19030 | hp2 | a0001 | c0003 | t0001 | g0215 | AFR | LWK | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19043 | hp1 | a0001 | c0003 | t0007 | g0220 | AFR | LWK | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19055 | hp1 | a0001 | c0001 | t0001 | g0046 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19056 | hp1 | a0002 | c0002 | t0001 | g0029 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19057 | hp1 | a0002 | c0002 | t0001 | g0018 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19057 | hp2 | a0003 | c0005 | t0001 | g0113 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0231 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0052 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0141 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0142 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19068 | hp1 | a0002 | c0002 | t0001 | g0034 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0050 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19074 | hp1 | a0001 | c0001 | t0001 | g0230 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19074 | hp2 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19075 | hp1 | a0006 | c0017 | t0001 | g0102 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19076 | hp1 | a0001 | c0001 | t0001 | g0227 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0180 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19081 | hp1 | a0001 | c0001 | t0001 | g0118 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19081 | hp2 | a0001 | c0001 | t0001 | g0083 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19082 | hp1 | a0001 | c0001 | t0001 | g0130 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19083 | hp1 | a0001 | c0001 | t0001 | g0239 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19084 | hp1 | a0001 | c0001 | t0001 | g0084 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19084 | hp2 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19085 | hp1 | a0002 | c0002 | t0001 | g0003 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19087 | hp1 | a0001 | c0001 | t0011 | g0237 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19087 | hp2 | a0002 | c0002 | t0001 | g0026 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0183 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0087 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19240 | hp1 | a0002 | c0002 | t0001 | g0011 | AFR | YRI | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0147 | AFR | YRI | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0197 | EUR | TSI | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0194 | EUR | TSI | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0148 | SAS | GIH | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01123 | hp1 | a0001 | c0001 | t0001 | g0164 | AMR | CLM | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01123 | hp2 | a0001 | c0001 | t0001 | g0193 | AMR | CLM | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02109 | hp1 | a0002 | c0002 | t0001 | g0065 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0203 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0202 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02559 | hp1 | a0002 | c0002 | t0001 | g0010 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0250 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03471 | hp1 | a0001 | c0003 | t0001 | g0213 | AFR | MSL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA20300 | hp1 | a0002 | c0002 | t0001 | g0070 | AFR | USA | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0221 | AFR | USA | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA21309 | hp1 | a0002 | c0002 | t0001 | g0041 | AFR | LWK | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA21309 | hp2 | a0001 | c0001 | t0006 | g0205 | AFR | LWK | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0200 | REF | REF | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0132 | REF | REF | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| 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:108571813
|
A | AC | 1 | a0014 | 1 | HG00438.hp1 | frameshift_variant | HIGH | c.446dupC | p.Gly150fs | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/53 | 735/6531 | 447/5076 | 149/1691 | INFO_REALIGN_3_PRIME | chrX | 108571813 | |
| chrX:108575943
|
A | G | 2 | a0003a0013 | 6 | NA18949.hp2 NA18951.hp2 NA18959.hp1 others(3): Show |
missense_variant | MODERATE | c.580A>G | p.Ile194Val | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/53 | 868/6531 | 580/5076 | 194/1691 | chrX | 108575943 | ||
| chrX:108591095
|
TC | T | 1 | a0006 | 1 | NA19075.hp1 | frameshift_variant | HIGH | c.1205delC | p.Pro402fs | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 20/53 | 1493/6531 | 1205/5076 | 402/1691 | INFO_REALIGN_3_PRIME | chrX | 108591095 | |
| chrX:108591181
|
C | A | 1 | a0012 | 1 | HG03490.hp1 | missense_variant | MODERATE | c.1289C>A | p.Ala430Asp | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 20/53 | 1577/6531 | 1289/5076 | 430/1691 | chrX | 108591181 | ||
| chrX:108591223
|
T | G | 3 | a0002a0005a0011 | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
missense_variant | MODERATE | c.1331T>G | p.Ile444Ser | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 20/53 | 1619/6531 | 1331/5076 | 444/1691 | chrX | 108591223 | ||
| chrX:108595538
|
A | G | 1 | a0010 | 1 | HG04184.hp2 | missense_variant | MODERATE | c.1453A>G | p.Ile485Val | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 22/53 | 1741/6531 | 1453/5076 | 485/1691 | chrX | 108595538 | ||
| chrX:108601423
|
C | T | 1 | a0011 | 1 | HG04228.hp1 | missense_variant | MODERATE | c.1979C>T | p.Thr660Ile | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 26/53 | 2267/6531 | 1979/5076 | 660/1691 | chrX | 108601423 | ||
| chrX:108603032
|
C | G | 1 | a0004 | 3 | NA18988.hp1 NA18990.hp1 NA19003.hp1 |
missense_variant | MODERATE | c.2215C>G | p.Pro739Ala | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/53 | 2503/6531 | 2215/5076 | 739/1691 | chrX | 108603032 | ||
| chrX:108622766
|
G | T | 2 | a0005a0011 | 3 | HG02523.hp1 HG04228.hp1 NA19004.hp1 |
missense_variant | MODERATE | c.2858G>T | p.Gly953Val | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/53 | 3146/6531 | 2858/5076 | 953/1691 | chrX | 108622766 | ||
| chrX:108625717
|
A | G | 1 | a0009 | 1 | HG04184.hp1 | missense_variant | MODERATE | c.3029A>G | p.Asn1010Ser | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 35/53 | 3317/6531 | 3029/5076 | 1010/1691 | chrX | 108625717 | ||
| chrX:108626311
|
A | G | 1 | a0008 | 1 | HG02630.hp1 | missense_variant | MODERATE | c.3208A>G | p.Ile1070Val | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/53 | 3496/6531 | 3208/5076 | 1070/1691 | chrX | 108626311 | ||
| chrX:108626317
|
A | AG | 1 | a0013 | 1 | NA18949.hp2 | frameshift_variant | HIGH | c.3215dupG | p.Ser1072fs | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/53 | 3504/6531 | 3216/5076 | 1072/1691 | INFO_REALIGN_3_PRIME | chrX | 108626317 | |
| chrX:108668352
|
C | T | 1 | a0007 | 1 | NA18942.hp2 | missense_variant | MODERATE | c.3638C>T | p.Pro1213Leu | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/53 | 3926/6531 | 3638/5076 | 1213/1691 | chrX | 108668352 |
| 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:108586677
|
G | C | 5 | a0002c0002a0002c0004a0002c0009others(2): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
synonymous_variant | LOW | c.1095G>C | p.Gly365Gly | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/53 | 1383/6531 | 1095/5076 | 365/1691 | chrX | 108586677 | ||
| chrX:108601898
|
T | C | 5 | a0002c0002a0002c0004a0002c0009others(2): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
synonymous_variant | LOW | c.2055T>C | p.Leu685Leu | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 27/53 | 2343/6531 | 2055/5076 | 685/1691 | chrX | 108601898 | ||
| chrX:108606846
|
G | A | 5 | a0002c0002a0002c0004a0002c0009others(2): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
synonymous_variant | LOW | c.2349G>A | p.Pro783Pro | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/53 | 2637/6531 | 2349/5076 | 783/1691 | chrX | 108606846 | ||
| chrX:108666554
|
A | G | 6 | a0001c0003a0002c0002a0002c0004others(3): Show | 68 | HG01106.hp1 HG01884.hp2 HG01975.hp2 others(65): Show |
synonymous_variant | LOW | c.3513A>G | p.Gln1171Gln | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 39/53 | 3801/6531 | 3513/5076 | 1171/1691 | chrX | 108666554 | ||
| chrX:108666560
|
T | G | 1 | a0001c0003 | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
synonymous_variant | LOW | c.3519T>G | p.Gly1173Gly | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 39/53 | 3807/6531 | 3519/5076 | 1173/1691 | chrX | 108666560 | ||
| chrX:108677501
|
T | A | 1 | a0008c0014 | 1 | HG02630.hp1 | splice_region_variant&synonymous_variant | LOW | c.3810T>A | p.Gly1270Gly | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/53 | 4098/6531 | 3810/5076 | 1270/1691 | chrX | 108677501 | ||
| chrX:108686107
|
C | T | 2 | a0002c0002a0002c0009 | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
synonymous_variant | LOW | c.4293C>T | p.Asp1431Asp | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 48/53 | 4581/6531 | 4293/5076 | 1431/1691 | chrX | 108686107 | ||
| chrX:108687666
|
A | G | 1 | a0002c0009 | 1 | HG03098.hp1 | synonymous_variant | LOW | c.4500A>G | p.Gly1500Gly | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/53 | 4788/6531 | 4500/5076 | 1500/1691 | chrX | 108687666 | ||
| chrX:108695311
|
C | T | 1 | a0001c0012 | 1 | NA18947.hp2 | synonymous_variant | LOW | c.4866C>T | p.Ser1622Ser | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 52/53 | 5154/6531 | 4866/5076 | 1622/1691 | chrX | 108695311 |
| 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:108439879
|
G | C | 1 | a0002c0004t0003 | 1 | HG02080.hp2 | 5_prime_UTR_variant | MODIFIER | c.-247G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/53 | 247 | chrX | 108439879 | |||||
| chrX:108439945
|
CCTT | C | 1 | a0001c0001t0015 | 1 | HG02698.hp1 | 5_prime_UTR_variant | MODIFIER | c.-168_-166delCTT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/53 | 166 | INFO_REALIGN_3_PRIME | chrX | 108439945 | ||||
| chrX:108439961
|
T | C | 1 | a0001c0001t0004 | 1 | HG02897.hp2 | 5_prime_UTR_variant | MODIFIER | c.-165T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/53 | 165 | chrX | 108439961 | |||||
| chrX:108439971
|
T | C | 1 | a0001c0001t0005 | 1 | HG01433.hp1 | 5_prime_UTR_variant | MODIFIER | c.-155T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/53 | 155 | chrX | 108439971 | |||||
| chrX:108696542
|
G | A | 1 | a0001c0001t0006 | 1 | NA21309.hp2 | 3_prime_UTR_variant | MODIFIER | c.*164G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 53/53 | 164 | chrX | 108696542 | |||||
| chrX:108696548
|
C | A | 1 | a0001c0003t0007 | 1 | NA19043.hp1 | 3_prime_UTR_variant | MODIFIER | c.*170C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 53/53 | 170 | chrX | 108696548 | |||||
| chrX:108696701
|
A | G | 1 | a0003c0005t0014 | 1 | NA18959.hp1 | 3_prime_UTR_variant | MODIFIER | c.*323A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 53/53 | 323 | chrX | 108696701 | |||||
| chrX:108697064
|
TA | T | 1 | a0002c0002t0013 | 1 | NA18969.hp1 | 3_prime_UTR_variant | MODIFIER | c.*692delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 53/53 | 692 | INFO_REALIGN_3_PRIME | chrX | 108697064 | ||||
| chrX:108697102
|
T | G | 1 | a0001c0001t0008 | 1 | HG02683.hp2 | 3_prime_UTR_variant | MODIFIER | c.*724T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 53/53 | 724 | chrX | 108697102 | |||||
| chrX:108697282
|
C | A | 1 | a0001c0001t0009 | 1 | HG03927.hp1 | 3_prime_UTR_variant | MODIFIER | c.*904C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 53/53 | 904 | chrX | 108697282 | |||||
| chrX:108697329
|
C | T | 2 | a0002c0004t0002a0002c0004t0012 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
3_prime_UTR_variant | MODIFIER | c.*951C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 53/53 | 951 | chrX | 108697329 | |||||
| chrX:108697382
|
T | A | 1 | a0002c0004t0012 | 1 | HG03540.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1004T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 53/53 | 1004 | chrX | 108697382 | |||||
| chrX:108697424
|
A | C | 1 | a0001c0001t0011 | 1 | NA19087.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1046A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 53/53 | 1046 | chrX | 108697424 | |||||
| chrX:108697504
|
C | A | 1 | a0001c0001t0010 | 1 | HG00099.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1126C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 53/53 | 1126 | chrX | 108697504 |
| 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:108440263
|
C | CT | 2 | a0002c0002t0001g0267a0002c0002t0001g0268 | 2 | NA18612.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.81+65dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108440263 | |||||
| chrX:108440271
|
T | TG | 54 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(51): Show | 54 | HG00733.hp2 HG01975.hp2 HG01978.hp2 others(51): Show |
intron_variant | MODIFIER | c.81+75dupG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108440271 | |||||
| chrX:108440271
|
T | TGG | 8 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0005others(5): Show | 8 | HG02451.hp1 HG02559.hp1 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.81+74_81+75dupGG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108440271 | |||||
| chrX:108440271
|
T | TGGG | 1 | a0002c0002t0001g0002 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.81+73_81+75dupGGG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108440271 | |||||
| chrX:108440271
|
TG | T | 8 | a0001c0001t0001g0001a0001c0001t0001g0264a0001c0001t0001g0265others(5): Show | 8 | HG01358.hp1 HG02055.hp1 HG02056.hp1 others(5): Show |
intron_variant | MODIFIER | c.81+75delG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108440271 | |||||
| chrX:108440272
|
G | T | 1 | a0001c0001t0001g0269 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.81+66G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108440272 | ||||||
| chrX:108440275
|
G | C | 1 | a0001c0001t0001g0001 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.81+69G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108440275 | ||||||
| chrX:108440334
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+128T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108440334 | ||||||
| chrX:108440530
|
C | G | 8 | a0001c0001t0001g0254a0001c0001t0001g0255a0001c0001t0001g0256others(5): Show | 8 | HG00738.hp1 HG01255.hp1 HG01258.hp1 others(5): Show |
intron_variant | MODIFIER | c.81+324C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108440530 | ||||||
| chrX:108440541
|
G | T | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.81+335G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108440541 | ||||||
| chrX:108440562
|
C | A | 1 | a0001c0001t0001g0074 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.81+356C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108440562 | ||||||
| chrX:108440894
|
CT | C | 1 | a0001c0001t0015g0075 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.81+696delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108440894 | |||||
| chrX:108441147
|
TA | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+948delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108441147 | |||||
| chrX:108441252
|
A | G | 1 | a0001c0001t0001g0253 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.81+1046A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108441252 | ||||||
| chrX:108441277
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+1071A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108441277 | ||||||
| chrX:108441745
|
C | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+1539C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108441745 | ||||||
| chrX:108441989
|
G | T | 1 | a0008c0014t0001g0252 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.81+1783G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108441989 | ||||||
| chrX:108442081
|
GGTTT | G | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+1880_81+1883del others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108442081 | |||||
| chrX:108442262
|
G | T | 1 | a0001c0001t0001g0251 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.81+2056G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108442262 | ||||||
| chrX:108442312
|
G | C | 44 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0076others(41): Show | 44 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(41): Show |
intron_variant | MODIFIER | c.81+2106G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108442312 | ||||||
| chrX:108442413
|
G | T | 3 | a0001c0001t0001g0248a0001c0001t0001g0249a0001c0001t0001g0250 | 3 | HG02559.hp2 HG02970.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.81+2207G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108442413 | ||||||
| chrX:108442809
|
C | T | 9 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(6): Show | 9 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.81+2603C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108442809 | ||||||
| chrX:108442817
|
A | G | 5 | a0001c0001t0001g0243a0001c0001t0001g0247a0004c0006t0001g0244others(2): Show | 5 | NA18939.hp1 NA18988.hp1 NA18990.hp1 others(2): Show |
intron_variant | MODIFIER | c.81+2611A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108442817 | ||||||
| chrX:108442880
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+2674T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108442880 | ||||||
| chrX:108443131
|
G | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+2925G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108443131 | ||||||
| chrX:108443227
|
C | G | 1 | a0001c0001t0001g0242 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.81+3021C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108443227 | ||||||
| chrX:108443415
|
A | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+3209A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108443415 | ||||||
| chrX:108443782
|
T | C | 6 | a0003c0005t0001g0109a0003c0005t0001g0112a0003c0005t0001g0113others(3): Show | 6 | NA18949.hp2 NA18951.hp2 NA18959.hp1 others(3): Show |
intron_variant | MODIFIER | c.81+3576T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108443782 | ||||||
| chrX:108444066
|
A | G | 1 | a0001c0001t0001g0241 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.81+3860A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108444066 | ||||||
| chrX:108444223
|
C | CT | 1 | a0001c0001t0001g0240 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.81+4028dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108444223 | |||||
| chrX:108444223
|
CT | C | 55 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(52): Show | 55 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(52): Show |
intron_variant | MODIFIER | c.81+4028delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108444223 | |||||
| chrX:108444313
|
G | A | 2 | a0002c0002t0001g0065a0002c0002t0001g0066 | 2 | HG02109.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.81+4107G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108444313 | ||||||
| chrX:108444374
|
C | T | 1 | a0001c0001t0001g0239 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.81+4168C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108444374 | ||||||
| chrX:108444379
|
C | T | 1 | a0002c0002t0001g0070 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.81+4173C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108444379 | ||||||
| chrX:108444402
|
G | A | 1 | a0001c0001t0001g0076 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.81+4196G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108444402 | ||||||
| chrX:108444409
|
C | T | 1 | a0002c0002t0001g0066 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.81+4203C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108444409 | ||||||
| chrX:108444940
|
A | T | 1 | a0001c0001t0001g0264 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.81+4734A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108444940 | ||||||
| chrX:108444983
|
C | T | 1 | a0001c0001t0001g0064 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.81+4777C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108444983 | ||||||
| chrX:108445047
|
G | A | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+4841G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108445047 | ||||||
| chrX:108445150
|
A | G | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.81+4944A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108445150 | ||||||
| chrX:108445335
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+5129T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108445335 | ||||||
| chrX:108445588
|
A | T | 1 | a0001c0001t0001g0238 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.81+5382A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108445588 | ||||||
| chrX:108445701
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+5495T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108445701 | ||||||
| chrX:108446392
|
G | T | 1 | a0001c0001t0011g0237 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.81+6186G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108446392 | ||||||
| chrX:108446714
|
C | T | 1 | a0001c0001t0001g0236 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.81+6508C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108446714 | ||||||
| chrX:108446890
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+6684A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108446890 | ||||||
| chrX:108446950
|
C | T | 1 | a0001c0001t0001g0235 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.81+6744C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108446950 | ||||||
| chrX:108447764
|
G | A | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+7558G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108447764 | ||||||
| chrX:108447766
|
A | C | 2 | a0001c0001t0001g0258a0001c0001t0001g0259 | 2 | HG01258.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.81+7560A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108447766 | ||||||
| chrX:108447950
|
G | A | 1 | a0001c0001t0001g0115 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.81+7744G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108447950 | ||||||
| chrX:108448023
|
C | T | 14 | a0001c0001t0001g0221a0001c0001t0001g0222a0001c0001t0001g0223others(11): Show | 14 | HG00099.hp1 HG01099.hp1 HG01256.hp1 others(11): Show |
intron_variant | MODIFIER | c.81+7817C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108448023 | ||||||
| chrX:108448590
|
G | A | 1 | a0002c0002t0001g0011 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.81+8384G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108448590 | ||||||
| chrX:108448742
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+8536A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108448742 | ||||||
| chrX:108448746
|
ATTT | A | 1 | a0001c0001t0001g0116 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.81+8543_81+8545del others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108448746 | |||||
| chrX:108448888
|
T | A | 2 | a0002c0002t0001g0004a0002c0002t0001g0005 | 2 | HG02451.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.81+8682T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108448888 | ||||||
| chrX:108449075
|
C | T | 154 | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0044others(151): Show | 154 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(151): Show |
intron_variant | MODIFIER | c.81+8869C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108449075 | ||||||
| chrX:108449336
|
G | A | 1 | a0001c0001t0001g0117 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.81+9130G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108449336 | ||||||
| chrX:108449393
|
T | C | 1 | a0001c0001t0008g0181 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.81+9187T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108449393 | ||||||
| chrX:108449519
|
G | A | 49 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(46): Show | 49 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(46): Show |
intron_variant | MODIFIER | c.81+9313G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108449519 | ||||||
| chrX:108449753
|
GT | G | 49 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(46): Show | 49 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(46): Show |
intron_variant | MODIFIER | c.81+9554delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108449753 | |||||
| chrX:108449948
|
C | T | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.81+9742C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108449948 | ||||||
| chrX:108450278
|
G | C | 3 | a0005c0007t0001g0260a0005c0007t0001g0262a0011c0010t0001g0261 | 3 | HG02523.hp1 HG04228.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.81+10072G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108450278 | ||||||
| chrX:108450720
|
T | C | 1 | a0001c0001t0001g0221 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.81+10514T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108450720 | ||||||
| chrX:108450917
|
A | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+10711A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108450917 | ||||||
| chrX:108450995
|
T | TC | 1 | a0001c0001t0009g0210 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.81+10795dupC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108450995 | |||||
| chrX:108451113
|
C | T | 1 | a0005c0007t0001g0262 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.81+10907C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108451113 | ||||||
| chrX:108451307
|
G | A | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+11101G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108451307 | ||||||
| chrX:108451376
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+11170A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108451376 | ||||||
| chrX:108451601
|
A | G | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.81+11395A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108451601 | ||||||
| chrX:108451811
|
T | C | 6 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0080others(3): Show | 6 | HG00558.hp2 HG00609.hp1 NA18947.hp2 others(3): Show |
intron_variant | MODIFIER | c.81+11605T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108451811 | ||||||
| chrX:108451827
|
C | T | 2 | a0001c0001t0001g0209a0002c0002t0001g0041 | 2 | HG04115.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.81+11621C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108451827 | ||||||
| chrX:108452381
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+12175T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108452381 | ||||||
| chrX:108452384
|
G | T | 1 | a0001c0001t0001g0208 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.81+12178G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108452384 | ||||||
| chrX:108452387
|
T | C | 83 | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0044others(80): Show | 83 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(80): Show |
intron_variant | MODIFIER | c.81+12181T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108452387 | ||||||
| chrX:108452407
|
G | A | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+12201G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108452407 | ||||||
| chrX:108452790
|
G | A | 1 | a0001c0001t0001g0242 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.81+12584G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108452790 | ||||||
| chrX:108452798
|
G | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+12592G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108452798 | ||||||
| chrX:108452977
|
C | T | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+12771C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108452977 | ||||||
| chrX:108453047
|
T | C | 1 | a0002c0002t0001g0067 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.81+12841T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108453047 | ||||||
| chrX:108453313
|
T | C | 1 | a0001c0001t0001g0182 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.81+13107T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108453313 | ||||||
| chrX:108453536
|
T | G | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+13330T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108453536 | ||||||
| chrX:108454139
|
T | C | 4 | a0001c0001t0001g0045a0001c0001t0001g0118a0001c0001t0001g0119others(1): Show | 4 | HG02074.hp1 NA18947.hp1 NA19081.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+13933T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108454139 | ||||||
| chrX:108454182
|
C | G | 3 | a0001c0001t0001g0076a0001c0001t0001g0106a0001c0001t0001g0107 | 3 | HG01069.hp1 HG01071.hp2 HG03688.hp1 |
intron_variant | MODIFIER | c.81+13976C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108454182 | ||||||
| chrX:108454378
|
A | C | 1 | a0001c0001t0001g0180 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.81+14172A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108454378 | ||||||
| chrX:108454513
|
G | A | 1 | a0002c0002t0001g0012 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.81+14307G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108454513 | ||||||
| chrX:108454851
|
G | A | 1 | a0001c0001t0001g0120 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.81+14645G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108454851 | ||||||
| chrX:108455018
|
A | T | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.81+14812A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108455018 | ||||||
| chrX:108455098
|
C | A | 2 | a0001c0003t0001g0211a0001c0003t0001g0212 | 2 | HG01106.hp1 HG01884.hp2 |
intron_variant | MODIFIER | c.81+14892C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108455098 | ||||||
| chrX:108455342
|
G | GT | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+15142dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108455342 | |||||
| chrX:108455477
|
T | C | 27 | a0001c0001t0001g0001a0001c0001t0001g0058a0001c0001t0001g0182others(24): Show | 27 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(24): Show |
intron_variant | MODIFIER | c.81+15271T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108455477 | ||||||
| chrX:108455791
|
G | A | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+15585G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108455791 | ||||||
| chrX:108455838
|
C | G | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+15632C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108455838 | ||||||
| chrX:108455916
|
T | G | 1 | a0002c0002t0001g0013 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.81+15710T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108455916 | ||||||
| chrX:108455976
|
C | T | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+15770C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108455976 | ||||||
| chrX:108456029
|
G | T | 1 | a0002c0009t0001g0009 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.81+15823G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108456029 | ||||||
| chrX:108456447
|
A | G | 18 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(15): Show | 18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.81+16241A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108456447 | ||||||
| chrX:108456753
|
G | C | 1 | a0001c0001t0001g0121 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.81+16547G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108456753 | ||||||
| chrX:108456958
|
C | T | 1 | a0001c0001t0001g0247 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.81+16752C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108456958 | ||||||
| chrX:108456985
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+16779C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108456985 | ||||||
| chrX:108457095
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+16889A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108457095 | ||||||
| chrX:108457337
|
G | C | 1 | a0001c0001t0001g0122 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.81+17131G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108457337 | ||||||
| chrX:108457778
|
G | T | 18 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(15): Show | 18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.81+17572G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108457778 | ||||||
| chrX:108457858
|
C | T | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.81+17652C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108457858 | ||||||
| chrX:108458149
|
C | T | 1 | a0002c0002t0001g0041 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.81+17943C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108458149 | ||||||
| chrX:108458158
|
ACCAAGAT others(4): Show |
A | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+17953_81+17963d others(13): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108458158 | ||||||
| chrX:108458172
|
TCATA | T | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+17967_81+17970d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108458172 | ||||||
| chrX:108458248
|
G | T | 30 | a0002c0002t0001g0003a0002c0002t0001g0012a0002c0002t0001g0013others(27): Show | 30 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(27): Show |
intron_variant | MODIFIER | c.81+18042G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108458248 | ||||||
| chrX:108458718
|
C | T | 7 | a0001c0001t0001g0058a0001c0001t0001g0197a0001c0001t0001g0199others(4): Show | 7 | HG00099.hp2 HG00733.hp2 HG03490.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+18512C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108458718 | ||||||
| chrX:108458902
|
C | T | 1 | a0002c0009t0001g0009 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.81+18696C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108458902 | ||||||
| chrX:108458977
|
C | CA | 3 | a0001c0001t0001g0123a0001c0001t0001g0264a0003c0005t0001g0109 | 3 | NA18940.hp1 NA18974.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.81+18786dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108458977 | |||||
| chrX:108458977
|
CA | C | 153 | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0044others(150): Show | 153 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(150): Show |
intron_variant | MODIFIER | c.81+18786delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108458977 | |||||
| chrX:108458997
|
C | G | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+18791C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108458997 | ||||||
| chrX:108459153
|
A | AT | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+18956dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108459153 | |||||
| chrX:108459153
|
AT | A | 7 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(4): Show | 7 | HG01106.hp1 HG01884.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+18956delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108459153 | |||||
| chrX:108459303
|
T | C | 1 | a0002c0002t0001g0035 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.81+19097T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108459303 | ||||||
| chrX:108459394
|
A | G | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+19188A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108459394 | ||||||
| chrX:108459672
|
T | A | 7 | a0001c0001t0001g0221a0001c0001t0001g0222a0001c0001t0001g0223others(4): Show | 7 | NA18957.hp1 NA18973.hp1 NA18983.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+19466T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108459672 | ||||||
| chrX:108459860
|
A | G | 2 | a0002c0002t0001g0065a0002c0002t0001g0066 | 2 | HG02109.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.81+19654A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108459860 | ||||||
| chrX:108459899
|
C | A | 1 | a0001c0001t0009g0210 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.81+19693C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108459899 | ||||||
| chrX:108459961
|
AT | A | 1 | a0002c0002t0001g0036 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.81+19763delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108459961 | |||||
| chrX:108459962
|
T | A | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.81+19756T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108459962 | ||||||
| chrX:108460128
|
G | C | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+19922G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108460128 | ||||||
| chrX:108460319
|
T | C | 1 | a0001c0001t0001g0124 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.81+20113T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108460319 | ||||||
| chrX:108460444
|
CT | C | 1 | a0002c0002t0001g0268 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.81+20244delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108460444 | |||||
| chrX:108460468
|
C | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+20262C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108460468 | ||||||
| chrX:108460646
|
C | T | 1 | a0001c0001t0001g0177 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.81+20440C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108460646 | ||||||
| chrX:108460656
|
A | AT | 91 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0055others(88): Show | 91 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(88): Show |
intron_variant | MODIFIER | c.81+20481dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108460656 | |||||
| chrX:108460656
|
A | ATT | 19 | a0001c0001t0001g0001a0001c0001t0001g0057a0001c0001t0001g0060others(16): Show | 19 | HG00735.hp2 HG01106.hp1 HG01123.hp2 others(16): Show |
intron_variant | MODIFIER | c.81+20480_81+20481d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108460656 | |||||
| chrX:108460656
|
A | ATTT | 5 | a0001c0001t0001g0105a0001c0001t0001g0196a0001c0001t0001g0257others(2): Show | 5 | HG01981.hp2 HG02258.hp1 NA18943.hp1 others(2): Show |
intron_variant | MODIFIER | c.81+20479_81+20481d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108460656 | |||||
| chrX:108460656
|
A | ATTTT | 4 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0007g0220others(1): Show | 4 | HG02055.hp1 HG02895.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+20478_81+20481d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108460656 | |||||
| chrX:108460656
|
AT | A | 10 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0064others(7): Show | 10 | HG01256.hp1 HG02622.hp1 NA18522.hp1 others(7): Show |
intron_variant | MODIFIER | c.81+20481delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108460656 | |||||
| chrX:108460656
|
ATT | A | 3 | a0002c0002t0001g0069a0002c0004t0002g0071a0002c0004t0012g0072 | 3 | HG02622.hp2 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.81+20480_81+20481d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108460656 | |||||
| chrX:108460656
|
ATTT | A | 2 | a0002c0002t0001g0034a0002c0002t0001g0068 | 2 | HG03486.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.81+20479_81+20481d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108460656 | |||||
| chrX:108460656
|
ATTTT | A | 44 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(41): Show | 44 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(41): Show |
intron_variant | MODIFIER | c.81+20478_81+20481d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108460656 | |||||
| chrX:108460656
|
ATTTTT | A | 2 | a0002c0002t0001g0015a0002c0009t0001g0009 | 2 | HG02165.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.81+20477_81+20481d others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108460656 | |||||
| chrX:108460656
|
ATTTTTT | A | 1 | a0001c0001t0001g0125 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.81+20476_81+20481d others(8): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108460656 | |||||
| chrX:108460666
|
T | TTC | 1 | a0001c0001t0001g0203 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.81+20461_81+20462i others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108460666 | |||||
| chrX:108460667
|
T | TC | 3 | a0001c0001t0001g0202a0001c0001t0001g0242a0008c0014t0001g0252 | 3 | HG02486.hp1 HG02630.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.81+20461_81+20462i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108460667 | ||||||
| chrX:108460800
|
G | A | 1 | a0001c0001t0001g0121 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.81+20594G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108460800 | ||||||
| chrX:108461078
|
T | C | 1 | a0001c0001t0001g0222 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.81+20872T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108461078 | ||||||
| chrX:108461312
|
A | AT | 2 | a0001c0001t0001g0173a0003c0005t0001g0109 | 2 | NA18974.hp1 NA19006.hp1 |
intron_variant | MODIFIER | c.81+21114dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108461312 | |||||
| chrX:108461312
|
AT | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+21114delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108461312 | |||||
| chrX:108461742
|
C | T | 2 | a0001c0001t0001g0057a0001c0001t0001g0172 | 2 | HG02132.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.81+21536C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108461742 | ||||||
| chrX:108461849
|
C | T | 1 | a0001c0001t0001g0076 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.81+21643C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108461849 | ||||||
| chrX:108461898
|
A | G | 30 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0052others(27): Show | 30 | HG00099.hp1 HG01099.hp1 HG01192.hp1 others(27): Show |
intron_variant | MODIFIER | c.81+21692A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108461898 | ||||||
| chrX:108461981
|
A | G | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+21775A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108461981 | ||||||
| chrX:108462370
|
T | C | 1 | a0002c0002t0001g0016 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.81+22164T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108462370 | ||||||
| chrX:108462545
|
T | C | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+22339T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108462545 | ||||||
| chrX:108462744
|
A | C | 55 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(52): Show | 55 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(52): Show |
intron_variant | MODIFIER | c.81+22538A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108462744 | ||||||
| chrX:108462825
|
A | T | 7 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0052others(4): Show | 7 | HG02071.hp1 HG02165.hp1 NA18970.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+22619A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108462825 | ||||||
| chrX:108462978
|
A | G | 1 | a0002c0002t0001g0040 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.81+22772A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108462978 | ||||||
| chrX:108463119
|
A | G | 1 | a0002c0002t0001g0033 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.81+22913A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108463119 | ||||||
| chrX:108463618
|
C | A | 154 | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0044others(151): Show | 154 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(151): Show |
intron_variant | MODIFIER | c.81+23412C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108463618 | ||||||
| chrX:108464143
|
A | T | 1 | a0001c0001t0001g0044 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.81+23937A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108464143 | ||||||
| chrX:108464227
|
G | GGA | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+24022_81+24023i others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108464227 | |||||
| chrX:108464250
|
T | C | 1 | a0005c0007t0001g0260 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.81+24044T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108464250 | ||||||
| chrX:108464309
|
A | AT | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+24104dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108464309 | |||||
| chrX:108464333
|
A | G | 1 | a0001c0001t0001g0153 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.81+24127A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108464333 | ||||||
| chrX:108464371
|
T | TG | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+24167dupG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108464371 | |||||
| chrX:108464391
|
A | G | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+24185A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108464391 | ||||||
| chrX:108464509
|
C | T | 1 | a0001c0001t0001g0195 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.81+24303C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108464509 | ||||||
| chrX:108464628
|
C | T | 1 | a0001c0001t0001g0058 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.81+24422C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108464628 | ||||||
| chrX:108464792
|
T | TG | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+24588dupG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108464792 | |||||
| chrX:108464948
|
G | GT | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+24746dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108464948 | |||||
| chrX:108464988
|
C | G | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+24782C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108464988 | ||||||
| chrX:108465020
|
A | AC | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+24818dupC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108465020 | |||||
| chrX:108465277
|
C | CT | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+25077dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108465277 | |||||
| chrX:108465283
|
T | A | 1 | a0005c0007t0001g0262 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.81+25077T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108465283 | ||||||
| chrX:108465418
|
C | A | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+25212C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108465418 | ||||||
| chrX:108465526
|
AT | A | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+25325delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108465526 | |||||
| chrX:108465596
|
T | G | 1 | a0001c0001t0001g0264 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.81+25390T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108465596 | ||||||
| chrX:108466189
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+25983T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466189 | ||||||
| chrX:108466355
|
T | TC | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26150dupC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466355 | |||||
| chrX:108466440
|
AT | A | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26240delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466440 | |||||
| chrX:108466448
|
A | T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26242A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466448 | ||||||
| chrX:108466478
|
GT | G | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26274delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466478 | |||||
| chrX:108466531
|
A | AT | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26330dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466531 | |||||
| chrX:108466561
|
A | AT | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26356dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466561 | |||||
| chrX:108466595
|
G | GAA | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26390_81+26391i others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466595 | |||||
| chrX:108466605
|
AT | A | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26410delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466605 | |||||
| chrX:108466624
|
AG | A | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26420delG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466624 | |||||
| chrX:108466625
|
G | T | 1 | a0001c0001t0001g0061 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.81+26419G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466625 | ||||||
| chrX:108466643
|
AG | A | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26439delG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466643 | |||||
| chrX:108466647
|
TG | T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26443delG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466647 | |||||
| chrX:108466657
|
TG | T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26453delG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466657 | |||||
| chrX:108466662
|
TA | T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26458delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466662 | |||||
| chrX:108466685
|
T | TA | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26481dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466685 | |||||
| chrX:108466691
|
C | T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26485C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466691 | ||||||
| chrX:108466692
|
T | C | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26486T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466692 | ||||||
| chrX:108466693
|
G | T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26487G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466693 | ||||||
| chrX:108466702
|
TG | T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26497delG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466702 | ||||||
| chrX:108466710
|
CCA | C | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26505_81+26506d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466710 | ||||||
| chrX:108466713
|
T | A | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26507T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466713 | ||||||
| chrX:108466721
|
TC | T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26517delC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466721 | |||||
| chrX:108466726
|
AG | A | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26521delG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466726 | ||||||
| chrX:108466732
|
TGG | T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26528_81+26529d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466732 | |||||
| chrX:108466745
|
A | C | 1 | a0009c0015t0001g0103 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.81+26539A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466745 | ||||||
| chrX:108466745
|
AG | A | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26541delG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466745 | |||||
| chrX:108466750
|
G | T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26544G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466750 | ||||||
| chrX:108466755
|
A | AC | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26550dupC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466755 | |||||
| chrX:108466758
|
T | TC | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26552_81+26553i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466758 | ||||||
| chrX:108466763
|
A | AC | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26557_81+26558i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466763 | ||||||
| chrX:108466770
|
CT | C | 50 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(47): Show | 50 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(47): Show |
intron_variant | MODIFIER | c.81+26575delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466770 | |||||
| chrX:108466770
|
CTT | C | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+26574_81+26575d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466770 | |||||
| chrX:108466773
|
T | G | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26567T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466773 | ||||||
| chrX:108466774
|
T | G | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26568T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466774 | ||||||
| chrX:108466775
|
T | C | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26569T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466775 | ||||||
| chrX:108466811
|
C | A | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26605C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466811 | ||||||
| chrX:108466812
|
C | A | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26606C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466812 | ||||||
| chrX:108466813
|
A | G | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26607A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466813 | ||||||
| chrX:108466821
|
C | CCAGT | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26615_81+26616i others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466821 | ||||||
| chrX:108466823
|
T | G | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26617T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466823 | ||||||
| chrX:108466878
|
C | T | 2 | a0002c0002t0001g0032a0002c0002t0013g0031 | 2 | NA18960.hp1 NA18969.hp1 |
intron_variant | MODIFIER | c.81+26672C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466878 | ||||||
| chrX:108466922
|
CTG | C | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26717_81+26718d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466922 | ||||||
| chrX:108466941
|
A | ATTGACAA others(6): Show |
1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26736_81+26737i others(15): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466941 | |||||
| chrX:108466954
|
A | T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26748A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466954 | ||||||
| chrX:108466959
|
C | T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26753C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466959 | ||||||
| chrX:108466960
|
T | C | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26754T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466960 | ||||||
| chrX:108466961
|
C | T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26755C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466961 | ||||||
| chrX:108466966
|
TC | T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26761delC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466966 | ||||||
| chrX:108466978
|
TTTTTTCA others(9): Show |
T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26774_81+26789d others(18): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466978 | |||||
| chrX:108467000
|
T | G | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26794T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467000 | ||||||
| chrX:108467032
|
G | GA | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26829dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108467032 | |||||
| chrX:108467044
|
G | A | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26838G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467044 | ||||||
| chrX:108467045
|
T | TTGAATTT others(1): Show |
1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26840_81+26841i others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108467045 | |||||
| chrX:108467135
|
T | TTA | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26932_81+26933d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108467135 | |||||
| chrX:108467310
|
A | G | 30 | a0002c0002t0001g0003a0002c0002t0001g0012a0002c0002t0001g0013others(27): Show | 30 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(27): Show |
intron_variant | MODIFIER | c.81+27104A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467310 | ||||||
| chrX:108467331
|
TA | T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+27126delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467331 | ||||||
| chrX:108467340
|
C | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+27134C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467340 | ||||||
| chrX:108467386
|
GT | G | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+27184delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108467386 | |||||
| chrX:108467444
|
CT | C | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+27241delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108467444 | |||||
| chrX:108467467
|
GT | G | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+27265delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108467467 | |||||
| chrX:108467530
|
T | TTTC | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+27326_81+27328d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108467530 | |||||
| chrX:108467558
|
AT | A | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+27355delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108467558 | |||||
| chrX:108467582
|
TTG | T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+27377_81+27378d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467582 | ||||||
| chrX:108467590
|
T | G | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+27384T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467590 | ||||||
| chrX:108467591
|
A | G | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+27385A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467591 | ||||||
| chrX:108467593
|
T | TA | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+27387_81+27388i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467593 | ||||||
| chrX:108467601
|
T | G | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+27395T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467601 | ||||||
| chrX:108467603
|
A | ATATATTC others(19): Show |
1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+27399_81+27400i others(28): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108467603 | |||||
| chrX:108467609
|
T | TA | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+27403_81+27404i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467609 | ||||||
| chrX:108467676
|
C | T | 1 | a0001c0001t0001g0080 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.81+27470C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467676 | ||||||
| chrX:108467677
|
AT | A | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+27473delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108467677 | |||||
| chrX:108467686
|
T | C | 2 | a0001c0003t0001g0216a0001c0003t0001g0217 | 2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.81+27480T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467686 | ||||||
| chrX:108467717
|
TG | T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+27513delG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108467717 | |||||
| chrX:108467830
|
AT | A | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+27628delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108467830 | |||||
| chrX:108467931
|
C | A | 1 | a0008c0014t0001g0252 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.81+27725C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467931 | ||||||
| chrX:108468002
|
T | C | 1 | a0001c0001t0001g0121 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.81+27796T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468002 | ||||||
| chrX:108468201
|
C | A | 1 | a0001c0001t0001g0174 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.81+27995C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468201 | ||||||
| chrX:108468376
|
C | A | 1 | a0001c0001t0001g0240 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.81+28170C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468376 | ||||||
| chrX:108468429
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+28223T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468429 | ||||||
| chrX:108468495
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+28289G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468495 | ||||||
| chrX:108468501
|
G | GT | 11 | a0001c0001t0001g0044a0001c0001t0001g0051a0001c0001t0001g0074others(8): Show | 11 | HG01255.hp1 HG02080.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.81+28310dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108468501 | |||||
| chrX:108468501
|
G | GTT | 1 | a0001c0001t0001g0152 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.81+28309_81+28310d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108468501 | |||||
| chrX:108468501
|
GT | G | 52 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(49): Show | 52 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(49): Show |
intron_variant | MODIFIER | c.81+28310delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108468501 | |||||
| chrX:108468591
|
A | AT | 1 | a0001c0001t0001g0150 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.81+28396dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108468591 | |||||
| chrX:108468591
|
AT | A | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.81+28396delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108468591 | |||||
| chrX:108468592
|
T | C | 1 | a0001c0001t0001g0086 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.81+28386T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468592 | ||||||
| chrX:108468676
|
G | A | 154 | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0044others(151): Show | 154 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(151): Show |
intron_variant | MODIFIER | c.81+28470G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468676 | ||||||
| chrX:108468716
|
G | T | 1 | a0002c0004t0001g0263 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.81+28510G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468716 | ||||||
| chrX:108468776
|
G | GT | 5 | a0001c0001t0001g0056a0001c0001t0001g0105a0001c0001t0001g0179others(2): Show | 5 | HG02071.hp1 HG02523.hp1 NA18993.hp1 others(2): Show |
intron_variant | MODIFIER | c.81+28580dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108468776 | |||||
| chrX:108468776
|
GT | G | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+28580delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108468776 | |||||
| chrX:108468830
|
T | C | 1 | a0001c0001t0001g0183 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.81+28624T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468830 | ||||||
| chrX:108468849
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+28643A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468849 | ||||||
| chrX:108468890
|
G | A | 1 | a0001c0001t0001g0251 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.81+28684G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468890 | ||||||
| chrX:108469166
|
TC | T | 4 | a0001c0001t0001g0202a0001c0001t0001g0203a0001c0001t0001g0242others(1): Show | 4 | HG02109.hp2 HG02486.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+28961delC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108469166 | ||||||
| chrX:108469169
|
C | CT | 23 | a0001c0001t0001g0078a0001c0001t0001g0083a0001c0001t0001g0087others(20): Show | 23 | HG00140.hp1 HG01081.hp2 HG01106.hp1 others(20): Show |
intron_variant | MODIFIER | c.81+28981dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108469169 | |||||
| chrX:108469169
|
C | CTT | 72 | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0044others(69): Show | 72 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(69): Show |
intron_variant | MODIFIER | c.81+28980_81+28981d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108469169 | |||||
| chrX:108469169
|
C | T | 4 | a0001c0001t0001g0202a0001c0001t0001g0203a0001c0001t0001g0242others(1): Show | 4 | HG02109.hp2 HG02486.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+28963C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108469169 | ||||||
| chrX:108469169
|
CT | C | 9 | a0001c0001t0001g0120a0001c0001t0001g0240a0002c0002t0001g0017others(6): Show | 9 | HG01081.hp1 HG02809.hp2 HG02922.hp2 others(6): Show |
intron_variant | MODIFIER | c.81+28981delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108469169 | |||||
| chrX:108469170
|
T | TC | 2 | a0001c0003t0001g0216a0001c0003t0001g0217 | 2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.81+28964_81+28965i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108469170 | ||||||
| chrX:108469188
|
G | T | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.81+28982G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108469188 | ||||||
| chrX:108469283
|
C | T | 1 | a0001c0001t0001g0207 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.81+29077C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108469283 | ||||||
| chrX:108469739
|
TA | T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+29536delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108469739 | |||||
| chrX:108469771
|
A | G | 1 | a0009c0015t0001g0103 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.81+29565A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108469771 | ||||||
| chrX:108469923
|
A | G | 1 | a0001c0001t0001g0148 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.81+29717A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108469923 | ||||||
| chrX:108470060
|
T | A | 1 | a0002c0002t0001g0034 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.81+29854T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108470060 | ||||||
| chrX:108470153
|
A | AC | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+29950dupC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108470153 | |||||
| chrX:108470194
|
T | A | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+29988T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108470194 | ||||||
| chrX:108470410
|
A | AT | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+30210dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108470410 | |||||
| chrX:108470716
|
C | A | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+30510C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108470716 | ||||||
| chrX:108470728
|
G | A | 1 | a0001c0001t0001g0104 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.81+30522G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108470728 | ||||||
| chrX:108470740
|
G | A | 6 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0080others(3): Show | 6 | HG00558.hp2 HG00609.hp1 NA18947.hp2 others(3): Show |
intron_variant | MODIFIER | c.81+30534G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108470740 | ||||||
| chrX:108470951
|
C | T | 1 | a0001c0001t0001g0227 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.81+30745C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108470951 | ||||||
| chrX:108471004
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+30798G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471004 | ||||||
| chrX:108471156
|
A | G | 6 | a0002c0002t0001g0003a0002c0002t0001g0026a0002c0002t0001g0027others(3): Show | 6 | NA18612.hp1 NA18941.hp1 NA18981.hp2 others(3): Show |
intron_variant | MODIFIER | c.81+30950A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471156 | ||||||
| chrX:108471254
|
G | A | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+31048G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471254 | ||||||
| chrX:108471287
|
G | GT | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+31086dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108471287 | |||||
| chrX:108471305
|
A | G | 1 | a0001c0001t0001g0056 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.81+31099A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471305 | ||||||
| chrX:108471469
|
A | G | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+31263A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471469 | ||||||
| chrX:108471476
|
T | C | 4 | a0001c0001t0001g0184a0001c0001t0001g0186a0001c0001t0001g0193others(1): Show | 4 | HG00140.hp1 HG01074.hp1 HG01123.hp2 others(1): Show |
intron_variant | MODIFIER | c.81+31270T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471476 | ||||||
| chrX:108471515
|
G | A | 1 | a0005c0007t0001g0260 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.81+31309G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471515 | ||||||
| chrX:108471568
|
G | T | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.81+31362G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471568 | ||||||
| chrX:108471640
|
GC | G | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+31436delC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108471640 | |||||
| chrX:108471660
|
A | T | 30 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0052others(27): Show | 30 | HG00099.hp1 HG01099.hp1 HG01192.hp1 others(27): Show |
intron_variant | MODIFIER | c.81+31454A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471660 | ||||||
| chrX:108471879
|
T | C | 3 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091 | 3 | NA18939.hp2 NA18955.hp1 NA18999.hp1 |
intron_variant | MODIFIER | c.81+31673T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471879 | ||||||
| chrX:108471916
|
G | T | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+31710G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471916 | ||||||
| chrX:108471970
|
G | A | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+31764G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471970 | ||||||
| chrX:108471990
|
G | A | 2 | a0001c0001t0001g0061a0001c0001t0001g0064 | 2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.81+31784G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471990 | ||||||
| chrX:108472077
|
T | A | 1 | a0001c0001t0008g0181 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.81+31871T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108472077 | ||||||
| chrX:108472078
|
G | A | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+31872G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108472078 | ||||||
| chrX:108472204
|
AT | A | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+32002delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108472204 | |||||
| chrX:108472244
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+32038T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108472244 | ||||||
| chrX:108472254
|
G | T | 154 | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0044others(151): Show | 154 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(151): Show |
intron_variant | MODIFIER | c.81+32048G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108472254 | ||||||
| chrX:108472581
|
C | T | 1 | a0001c0001t0001g0147 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.81+32375C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108472581 | ||||||
| chrX:108472740
|
A | T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+32534A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108472740 | ||||||
| chrX:108472911
|
C | G | 1 | a0001c0001t0001g0105 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.81+32705C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108472911 | ||||||
| chrX:108472922
|
C | T | 1 | a0001c0001t0001g0167 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.81+32716C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108472922 | ||||||
| chrX:108473078
|
A | G | 1 | a0001c0001t0001g0159 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.81+32872A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473078 | ||||||
| chrX:108473196
|
T | G | 1 | a0010c0016t0001g0175 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.81+32990T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473196 | ||||||
| chrX:108473404
|
G | GC | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+33203dupC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473404 | |||||
| chrX:108473588
|
T | TA | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+33385dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473588 | |||||
| chrX:108473592
|
G | A | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.81+33386G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473592 | ||||||
| chrX:108473595
|
T | TTA | 3 | a0001c0001t0001g0167a0001c0001t0001g0243a0002c0002t0001g0006 | 3 | HG03453.hp1 HG03516.hp1 NA18939.hp1 |
intron_variant | MODIFIER | c.81+33405_81+33406d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473595 | |||||
| chrX:108473595
|
TTA | T | 1 | a0001c0001t0001g0166 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.81+33405_81+33406d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473595 | |||||
| chrX:108473597
|
ATATATAT others(9): Show |
A | 1 | a0001c0001t0001g0207 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.81+33407_81+33422d others(18): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473597 | |||||
| chrX:108473611
|
A | G | 2 | a0001c0001t0001g0256a0002c0002t0001g0002 | 2 | HG02257.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.81+33405A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473611 | ||||||
| chrX:108473613
|
G | A | 3 | a0001c0001t0001g0204a0001c0001t0001g0256a0002c0002t0001g0002 | 3 | HG02257.hp2 HG02717.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.81+33407G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473613 | ||||||
| chrX:108473613
|
G | GTA | 3 | a0001c0001t0001g0045a0001c0001t0001g0118a0001c0001t0001g0119 | 3 | HG02074.hp1 NA18947.hp1 NA19081.hp1 |
intron_variant | MODIFIER | c.81+33427_81+33428d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473613 | |||||
| chrX:108473613
|
GTA | G | 1 | a0010c0016t0001g0175 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.81+33427_81+33428d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473613 | |||||
| chrX:108473614
|
TATATATA others(10): Show |
T | 1 | a0001c0001t0001g0204 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.81+33409_81+33425d others(19): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473614 | ||||||
| chrX:108473617
|
A | AT | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+33412dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473617 | |||||
| chrX:108473631
|
A | T | 1 | a0001c0001t0001g0207 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.81+33425A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473631 | ||||||
| chrX:108473633
|
A | AT | 1 | a0001c0001t0001g0153 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.81+33440dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(10): Show |
1 | a0001c0001t0001g0188 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(19): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(17): Show |
1 | a0001c0001t0001g0197 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(26): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(18): Show |
1 | a0001c0001t0001g0092 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.81+33428_81+33429i others(27): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(15): Show |
2 | a0001c0001t0001g0187a0001c0001t0015g0075 | 2 | HG01071.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(24): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(11): Show |
3 | a0001c0001t0001g0078a0001c0001t0001g0182a0001c0001t0004g0059 | 3 | HG02897.hp2 HG03942.hp1 NA18948.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(20): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(13): Show |
3 | a0001c0001t0001g0194a0001c0001t0001g0196a0001c0001t0001g0251 | 3 | HG03540.hp2 NA18943.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(15): Show |
2 | a0001c0001t0001g0184a0001c0001t0001g0193 | 2 | HG00140.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(24): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(9): Show |
1 | a0001c0001t0001g0189 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(18): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(10): Show |
10 | a0001c0001t0001g0058a0001c0001t0001g0080a0001c0001t0001g0081others(7): Show | 10 | HG00609.hp1 HG00733.hp2 HG00738.hp1 others(7): Show |
intron_variant | MODIFIER | c.81+33428_81+33429i others(19): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(11): Show |
9 | a0001c0001t0001g0060a0001c0001t0001g0106a0001c0001t0001g0199others(6): Show | 9 | HG00099.hp2 HG01069.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.81+33428_81+33429i others(20): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(12): Show |
3 | a0001c0001t0001g0107a0001c0001t0001g0255a0001c0001t0009g0210 | 3 | HG01071.hp2 HG01255.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(21): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(8): Show |
2 | a0001c0001t0001g0079a0001c0001t0001g0190 | 2 | HG00558.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(17): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(9): Show |
5 | a0001c0001t0001g0083a0001c0001t0001g0086a0001c0001t0001g0183others(2): Show | 5 | HG00280.hp1 HG01167.hp1 NA18942.hp1 others(2): Show |
intron_variant | MODIFIER | c.81+33428_81+33429i others(18): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(10): Show |
26 | a0001c0001t0001g0043a0001c0001t0001g0076a0001c0001t0001g0084others(23): Show | 26 | HG00408.hp1 HG00642.hp1 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.81+33428_81+33429i others(19): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(11): Show |
7 | a0001c0001t0001g0044a0001c0001t0001g0064a0001c0001t0001g0202others(4): Show | 7 | HG00735.hp1 HG02486.hp1 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+33428_81+33429i others(20): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(12): Show |
1 | a0001c0001t0001g0104 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(21): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(43): Show |
1 | a0001c0001t0001g0200 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(52): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(8): Show |
1 | a0001c0001t0001g0061 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.81+33428_81+33429i others(17): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(9): Show |
2 | a0001c0001t0001g0001a0001c0001t0001g0238 | 2 | HG02056.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(18): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(10): Show |
1 | a0001c0001t0001g0101 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(19): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(11): Show |
1 | a0001c0001t0008g0181 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.81+33428_81+33429i others(20): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(6): Show |
2 | a0002c0002t0001g0011a0002c0002t0001g0040 | 2 | HG02723.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(15): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(7): Show |
3 | a0002c0002t0001g0036a0002c0002t0001g0037a0002c0002t0001g0070 | 3 | HG02922.hp2 HG03195.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(16): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(8): Show |
1 | a0001c0001t0001g0256 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(17): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(1): Show |
8 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(5): Show | 8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.81+33428_81+33429i others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(5): Show |
1 | a0002c0002t0001g0038 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.81+33428_81+33429i others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATAT others(6): Show |
2 | a0002c0002t0001g0035a0002c0002t0001g0268 | 2 | HG03041.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(15): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATTT others(3): Show |
1 | a0005c0007t0001g0260 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(12): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATTT others(4): Show |
2 | a0002c0002t0001g0019a0002c0002t0001g0041 | 2 | NA18986.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(13): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATTT others(5): Show |
1 | a0002c0002t0013g0031 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATATTT others(6): Show |
2 | a0002c0002t0001g0003a0002c0002t0001g0026 | 2 | NA19085.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(15): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATT | 1 | a0001c0001t0001g0239 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATTT | 1 | a0001c0003t0001g0218 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATTTT | 2 | a0001c0003t0001g0216a0001c0003t0007g0220 | 2 | HG03225.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(8): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATTTTT | 1 | a0001c0003t0001g0217 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(9): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATTTTT others(1): Show |
3 | a0002c0004t0001g0263a0005c0007t0001g0262a0011c0010t0001g0261 | 3 | HG02055.hp1 HG02523.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATTTTT others(2): Show |
2 | a0002c0002t0001g0017a0002c0002t0001g0065 | 2 | HG02109.hp1 NA18957.hp2 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(11): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATTTTT others(3): Show |
3 | a0002c0002t0001g0018a0002c0002t0001g0027a0002c0002t0001g0068 | 3 | HG03486.hp2 NA18941.hp1 NA19057.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(12): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATTTTT others(4): Show |
18 | a0002c0002t0001g0012a0002c0002t0001g0013a0002c0002t0001g0014others(15): Show | 18 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(15): Show |
intron_variant | MODIFIER | c.81+33428_81+33429i others(13): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATATTTTT others(6): Show |
1 | a0002c0002t0001g0039 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(15): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATT | 2 | a0001c0001t0001g0117a0001c0001t0001g0180 | 2 | HG00621.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.81+33439_81+33440d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATTTTT | 1 | a0002c0002t0001g0004 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.81+33436_81+33440d others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATTTTTTT others(1): Show |
1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+33433_81+33440d others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATTTTTTT others(2): Show |
1 | a0002c0002t0001g0034 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.81+33432_81+33440d others(11): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATTTTTTT others(3): Show |
6 | a0002c0002t0001g0002a0002c0002t0001g0066a0002c0002t0001g0069others(3): Show | 6 | HG02257.hp2 HG02622.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.81+33431_81+33440d others(12): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | ATTTTTTT others(5): Show |
6 | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0007others(3): Show | 6 | HG02451.hp1 HG02559.hp1 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.81+33429_81+33440d others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | |||||
| chrX:108473633
|
A | T | 14 | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0054others(11): Show | 14 | HG01261.hp1 HG01515.hp1 HG01517.hp2 others(11): Show |
intron_variant | MODIFIER | c.81+33427A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473633 | ||||||
| chrX:108473635
|
T | A | 10 | a0001c0001t0001g0121a0001c0001t0001g0129a0001c0001t0001g0221others(7): Show | 10 | HG00099.hp1 HG01109.hp1 NA18957.hp1 others(7): Show |
intron_variant | MODIFIER | c.81+33429T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473635 | ||||||
| chrX:108473692
|
T | C | 154 | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0044others(151): Show | 154 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(151): Show |
intron_variant | MODIFIER | c.81+33486T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473692 | ||||||
| chrX:108473872
|
T | G | 1 | a0001c0001t0001g0236 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.81+33666T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473872 | ||||||
| chrX:108473883
|
C | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+33677C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473883 | ||||||
| chrX:108474170
|
A | AC | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+33967dupC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108474170 | |||||
| chrX:108474387
|
A | C | 8 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(5): Show | 8 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.81+34181A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108474387 | ||||||
| chrX:108474446
|
G | A | 3 | a0001c0001t0001g0076a0001c0001t0001g0106a0001c0001t0001g0107 | 3 | HG01069.hp1 HG01071.hp2 HG03688.hp1 |
intron_variant | MODIFIER | c.81+34240G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108474446 | ||||||
| chrX:108474620
|
T | A | 1 | a0001c0001t0001g0247 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.81+34414T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108474620 | ||||||
| chrX:108474779
|
G | T | 1 | a0002c0002t0001g0039 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.81+34573G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108474779 | ||||||
| chrX:108474834
|
C | T | 1 | a0001c0003t0007g0220 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.81+34628C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108474834 | ||||||
| chrX:108474872
|
G | GT | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+34671dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108474872 | |||||
| chrX:108475083
|
C | CT | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+34881dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108475083 | |||||
| chrX:108475183
|
TGA | T | 1 | a0002c0002t0001g0027 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.81+34979_81+34980d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108475183 | |||||
| chrX:108475289
|
T | C | 3 | a0001c0001t0001g0248a0001c0001t0001g0249a0001c0001t0001g0250 | 3 | HG02559.hp2 HG02970.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.81+35083T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108475289 | ||||||
| chrX:108475398
|
T | TG | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+35192_81+35193i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108475398 | ||||||
| chrX:108475403
|
C | G | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+35197C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108475403 | ||||||
| chrX:108475412
|
C | CG | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+35206_81+35207i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108475412 | ||||||
| chrX:108475466
|
T | G | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+35260T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108475466 | ||||||
| chrX:108475528
|
A | AC | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+35322_81+35323i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108475528 | ||||||
| chrX:108475530
|
T | TCG | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+35324_81+35325i others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108475530 | ||||||
| chrX:108475533
|
G | A | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+35327G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108475533 | ||||||
| chrX:108475586
|
T | TG | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+35381dupG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108475586 | |||||
| chrX:108475637
|
T | C | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+35431T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108475637 | ||||||
| chrX:108475790
|
C | T | 14 | a0001c0001t0001g0221a0001c0001t0001g0222a0001c0001t0001g0223others(11): Show | 14 | HG00099.hp1 HG01099.hp1 HG01256.hp1 others(11): Show |
intron_variant | MODIFIER | c.81+35584C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108475790 | ||||||
| chrX:108476247
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+36041A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108476247 | ||||||
| chrX:108476334
|
A | G | 1 | a0001c0001t0001g0186 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.81+36128A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108476334 | ||||||
| chrX:108476340
|
A | G | 3 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0143 | 3 | NA18953.hp1 NA19063.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.81+36134A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108476340 | ||||||
| chrX:108476373
|
T | C | 1 | a0001c0001t0011g0237 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.81+36167T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108476373 | ||||||
| chrX:108476519
|
C | CT | 7 | a0001c0001t0001g0119a0001c0001t0001g0128a0001c0001t0001g0157others(4): Show | 7 | HG02015.hp1 HG02559.hp2 HG02970.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+36337dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108476519 | |||||
| chrX:108476519
|
CT | C | 147 | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0044others(144): Show | 147 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(144): Show |
intron_variant | MODIFIER | c.81+36337delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108476519 | |||||
| chrX:108476519
|
CTT | C | 9 | a0001c0001t0001g0087a0001c0001t0001g0190a0001c0001t0001g0191others(6): Show | 9 | HG00280.hp1 HG01169.hp2 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.81+36336_81+36337d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108476519 | |||||
| chrX:108476542
|
T | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+36336T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108476542 | ||||||
| chrX:108476543
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+36337T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108476543 | ||||||
| chrX:108476788
|
TC | T | 1 | a0011c0010t0001g0261 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.81+36584delC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108476788 | |||||
| chrX:108476842
|
A | T | 1 | a0001c0001t0001g0251 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.81+36636A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108476842 | ||||||
| chrX:108476895
|
G | A | 1 | a0001c0001t0001g0154 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.81+36689G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108476895 | ||||||
| chrX:108476898
|
A | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+36692A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108476898 | ||||||
| chrX:108476924
|
C | T | 2 | a0002c0002t0001g0013a0002c0002t0001g0025 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.81+36718C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108476924 | ||||||
| chrX:108477045
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+36839T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108477045 | ||||||
| chrX:108477068
|
C | T | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+36862C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108477068 | ||||||
| chrX:108477815
|
C | CA | 9 | a0001c0001t0001g0094a0001c0001t0001g0160a0001c0001t0001g0247others(6): Show | 9 | HG01169.hp1 HG01975.hp2 HG01978.hp1 others(6): Show |
intron_variant | MODIFIER | c.81+37629dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108477815 | |||||
| chrX:108477815
|
CA | C | 11 | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0140others(8): Show | 11 | HG00733.hp1 HG01517.hp2 HG01943.hp1 others(8): Show |
intron_variant | MODIFIER | c.81+37629delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108477815 | |||||
| chrX:108477868
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+37662C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108477868 | ||||||
| chrX:108478273
|
C | T | 1 | a0001c0001t0001g0108 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.81+38067C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108478273 | ||||||
| chrX:108478346
|
T | C | 154 | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0044others(151): Show | 154 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(151): Show |
intron_variant | MODIFIER | c.81+38140T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108478346 | ||||||
| chrX:108478374
|
C | T | 1 | a0001c0001t0001g0236 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.81+38168C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108478374 | ||||||
| chrX:108478468
|
G | T | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+38262G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108478468 | ||||||
| chrX:108478533
|
C | G | 1 | a0001c0001t0001g0269 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.81+38327C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108478533 | ||||||
| chrX:108478788
|
T | A | 2 | a0001c0001t0001g0061a0001c0001t0001g0064 | 2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.81+38582T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108478788 | ||||||
| chrX:108478971
|
G | A | 1 | a0001c0001t0001g0130 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.81+38765G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108478971 | ||||||
| chrX:108479540
|
C | G | 1 | a0001c0001t0001g0206 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.81+39334C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108479540 | ||||||
| chrX:108479554
|
TC | T | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+39350delC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108479554 | |||||
| chrX:108479723
|
A | G | 1 | a0002c0002t0001g0039 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.81+39517A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108479723 | ||||||
| chrX:108479743
|
T | C | 1 | a0011c0010t0001g0261 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.81+39537T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108479743 | ||||||
| chrX:108479769
|
G | A | 8 | a0001c0012t0001g0077a0002c0004t0001g0263a0002c0004t0002g0071others(5): Show | 8 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.81+39563G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108479769 | ||||||
| chrX:108480093
|
C | G | 1 | a0001c0001t0001g0117 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.81+39887C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108480093 | ||||||
| chrX:108480146
|
A | G | 1 | a0001c0001t0001g0156 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.81+39940A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108480146 | ||||||
| chrX:108480211
|
A | G | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+40005A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108480211 | ||||||
| chrX:108480215
|
G | A | 1 | a0001c0001t0010g0198 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.81+40009G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108480215 | ||||||
| chrX:108480328
|
G | C | 1 | a0005c0007t0001g0260 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.81+40122G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108480328 | ||||||
| chrX:108480571
|
G | A | 25 | a0001c0001t0001g0001a0001c0001t0001g0058a0001c0001t0001g0182others(22): Show | 25 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(22): Show |
intron_variant | MODIFIER | c.81+40365G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108480571 | ||||||
| chrX:108480899
|
C | T | 1 | a0001c0001t0001g0153 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.81+40693C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108480899 | ||||||
| chrX:108480948
|
G | A | 30 | a0002c0002t0001g0003a0002c0002t0001g0012a0002c0002t0001g0013others(27): Show | 30 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(27): Show |
intron_variant | MODIFIER | c.81+40742G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108480948 | ||||||
| chrX:108481055
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+40849A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108481055 | ||||||
| chrX:108481134
|
T | C | 4 | a0001c0001t0001g0202a0001c0001t0001g0203a0001c0001t0001g0242others(1): Show | 4 | HG02109.hp2 HG02486.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+40928T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108481134 | ||||||
| chrX:108481139
|
A | T | 14 | a0001c0001t0001g0221a0001c0001t0001g0222a0001c0001t0001g0223others(11): Show | 14 | HG00099.hp1 HG01099.hp1 HG01256.hp1 others(11): Show |
intron_variant | MODIFIER | c.81+40933A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108481139 | ||||||
| chrX:108481238
|
C | T | 8 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(5): Show | 8 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.81+41032C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108481238 | ||||||
| chrX:108481247
|
T | TGGG | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.81+41042_81+41043i others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108481247 | |||||
| chrX:108481250
|
C | CTATG | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.81+41044_81+41045i others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108481250 | ||||||
| chrX:108481507
|
T | C | 2 | a0001c0001t0001g0061a0001c0001t0001g0064 | 2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.81+41301T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108481507 | ||||||
| chrX:108481615
|
T | C | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+41409T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108481615 | ||||||
| chrX:108481898
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+41692A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108481898 | ||||||
| chrX:108482097
|
A | C | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+41891A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108482097 | ||||||
| chrX:108482569
|
T | G | 1 | a0001c0001t0001g0122 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.81+42363T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108482569 | ||||||
| chrX:108482920
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+42714C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108482920 | ||||||
| chrX:108482943
|
C | A | 18 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(15): Show | 18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.81+42737C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108482943 | ||||||
| chrX:108483081
|
G | A | 1 | a0001c0001t0001g0061 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.81+42875G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108483081 | ||||||
| chrX:108483116
|
C | A | 1 | a0001c0001t0001g0125 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.81+42910C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108483116 | ||||||
| chrX:108483203
|
A | ATGTG | 21 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(18): Show | 21 | HG02083.hp1 HG02155.hp2 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.81+43013_81+43016d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108483203 | |||||
| chrX:108483203
|
A | ATGTGTG | 27 | a0002c0002t0001g0003a0002c0002t0001g0012a0002c0002t0001g0013others(24): Show | 27 | HG01975.hp2 HG01978.hp2 HG02109.hp1 others(24): Show |
intron_variant | MODIFIER | c.81+43011_81+43016d others(8): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108483203 | |||||
| chrX:108483223
|
A | ATG | 59 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0060others(56): Show | 59 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(56): Show |
intron_variant | MODIFIER | c.81+43041_81+43042d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108483223 | |||||
| chrX:108483223
|
A | ATGTG | 2 | a0001c0001t0001g0100a0001c0001t0001g0266 | 2 | HG00408.hp1 HG01358.hp1 |
intron_variant | MODIFIER | c.81+43039_81+43042d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108483223 | |||||
| chrX:108483270
|
G | A | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+43064G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108483270 | ||||||
| chrX:108483361
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+43155T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108483361 | ||||||
| chrX:108483468
|
C | T | 1 | a0001c0001t0001g0055 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.81+43262C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108483468 | ||||||
| chrX:108483494
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+43288A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108483494 | ||||||
| chrX:108483550
|
C | T | 8 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(5): Show | 8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.81+43344C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108483550 | ||||||
| chrX:108483614
|
T | G | 2 | a0002c0002t0001g0020a0002c0002t0001g0021 | 2 | HG01975.hp2 HG01978.hp2 |
intron_variant | MODIFIER | c.81+43408T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108483614 | ||||||
| chrX:108484118
|
A | G | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+43912A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108484118 | ||||||
| chrX:108484866
|
G | A | 1 | a0001c0001t0001g0092 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.81+44660G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108484866 | ||||||
| chrX:108484934
|
T | C | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.81+44728T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108484934 | ||||||
| chrX:108485033
|
T | C | 1 | a0001c0001t0001g0177 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.81+44827T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108485033 | ||||||
| chrX:108485105
|
G | A | 4 | a0001c0001t0001g0045a0001c0001t0001g0118a0001c0001t0001g0119others(1): Show | 4 | HG02074.hp1 NA18947.hp1 NA19081.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+44899G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108485105 | ||||||
| chrX:108485296
|
C | T | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.81+45090C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108485296 | ||||||
| chrX:108485389
|
C | A | 3 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0052 | 3 | NA18971.hp1 NA19055.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.81+45183C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108485389 | ||||||
| chrX:108485463
|
C | G | 1 | a0001c0001t0005g0185 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.81+45257C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108485463 | ||||||
| chrX:108485609
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+45403A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108485609 | ||||||
| chrX:108485738
|
G | T | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+45532G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108485738 | ||||||
| chrX:108486095
|
T | C | 1 | a0001c0001t0005g0185 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.81+45889T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108486095 | ||||||
| chrX:108486114
|
T | G | 2 | a0001c0001t0001g0144a0001c0001t0001g0148 | 2 | HG01934.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.81+45908T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108486114 | ||||||
| chrX:108486353
|
C | A | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+46147C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108486353 | ||||||
| chrX:108486447
|
G | A | 1 | a0010c0016t0001g0175 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.81+46241G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108486447 | ||||||
| chrX:108486574
|
A | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+46368A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108486574 | ||||||
| chrX:108486625
|
G | A | 1 | a0008c0014t0001g0252 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.81+46419G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108486625 | ||||||
| chrX:108486946
|
T | G | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+46740T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108486946 | ||||||
| chrX:108487034
|
G | T | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+46828G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108487034 | ||||||
| chrX:108487285
|
G | A | 1 | a0001c0001t0001g0058 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.81+47079G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108487285 | ||||||
| chrX:108487315
|
G | A | 1 | a0001c0001t0001g0151 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.81+47109G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108487315 | ||||||
| chrX:108487377
|
C | T | 1 | a0002c0002t0001g0008 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.81+47171C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108487377 | ||||||
| chrX:108487390
|
C | CA | 8 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(5): Show | 8 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.81+47201dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108487390 | |||||
| chrX:108487390
|
CA | C | 3 | a0001c0001t0001g0088a0001c0001t0001g0157a0001c0001t0001g0188 | 3 | HG02015.hp1 HG02976.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.81+47201delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108487390 | |||||
| chrX:108487405
|
A | AAG | 2 | a0002c0002t0001g0021a0002c0002t0001g0268 | 2 | HG01975.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.81+47200_81+47201i others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108487405 | |||||
| chrX:108487411
|
G | A | 2 | a0002c0002t0001g0021a0002c0002t0001g0268 | 2 | HG01975.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.81+47205G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108487411 | ||||||
| chrX:108487413
|
A | AAAG | 54 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(51): Show | 54 | HG01978.hp2 HG02055.hp1 HG02080.hp2 others(51): Show |
intron_variant | MODIFIER | c.81+47214_81+47216d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108487413 | |||||
| chrX:108487413
|
A | G | 2 | a0002c0002t0001g0021a0002c0002t0001g0268 | 2 | HG01975.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.81+47207A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108487413 | ||||||
| chrX:108487797
|
A | G | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+47591A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108487797 | ||||||
| chrX:108487843
|
A | G | 1 | a0001c0003t0001g0218 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.81+47637A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108487843 | ||||||
| chrX:108488345
|
AG | A | 1 | a0001c0001t0001g0145 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.81+48142delG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108488345 | |||||
| chrX:108488511
|
G | A | 19 | a0001c0001t0001g0043a0001c0001t0001g0084a0001c0001t0001g0085others(16): Show | 19 | HG00408.hp1 HG00438.hp2 HG00642.hp1 others(16): Show |
intron_variant | MODIFIER | c.81+48305G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108488511 | ||||||
| chrX:108488532
|
C | A | 1 | a0001c0001t0001g0167 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.81+48326C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108488532 | ||||||
| chrX:108488628
|
T | G | 8 | a0002c0002t0001g0011a0002c0002t0001g0035a0002c0002t0001g0036others(5): Show | 8 | HG02723.hp2 HG02818.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.81+48422T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108488628 | ||||||
| chrX:108488689
|
A | G | 1 | a0004c0006t0001g0246 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.81+48483A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108488689 | ||||||
| chrX:108488751
|
C | A | 1 | a0001c0003t0001g0211 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.81+48545C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108488751 | ||||||
| chrX:108488763
|
GCA | G | 1 | a0001c0001t0001g0174 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.81+48560_81+48561d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108488763 | |||||
| chrX:108488816
|
C | A | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+48610C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108488816 | ||||||
| chrX:108488912
|
C | A | 4 | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0050others(1): Show | 4 | HG00408.hp2 NA18945.hp1 NA18966.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+48706C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108488912 | ||||||
| chrX:108488913
|
A | C | 4 | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0050others(1): Show | 4 | HG00408.hp2 NA18945.hp1 NA18966.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+48707A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108488913 | ||||||
| chrX:108489437
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+49231G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108489437 | ||||||
| chrX:108489648
|
T | A | 2 | a0002c0002t0001g0032a0002c0002t0013g0031 | 2 | NA18960.hp1 NA18969.hp1 |
intron_variant | MODIFIER | c.81+49442T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108489648 | ||||||
| chrX:108489930
|
T | C | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+49724T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108489930 | ||||||
| chrX:108489938
|
T | C | 1 | a0001c0001t0001g0255 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.81+49732T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108489938 | ||||||
| chrX:108489977
|
A | C | 4 | a0001c0001t0001g0163a0001c0001t0001g0248a0001c0001t0001g0249others(1): Show | 4 | HG02559.hp2 HG02970.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-49769A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108489977 | ||||||
| chrX:108490099
|
T | C | 1 | a0007c0013t0001g0126 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.82-49647T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108490099 | ||||||
| chrX:108490642
|
ATATT | A | 1 | a0001c0001t0001g0248 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.82-49101_82-49098d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108490642 | |||||
| chrX:108490676
|
G | A | 4 | a0001c0001t0001g0045a0001c0001t0001g0118a0001c0001t0001g0119others(1): Show | 4 | HG02074.hp1 NA18947.hp1 NA19081.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-49070G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108490676 | ||||||
| chrX:108491003
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-48743A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108491003 | ||||||
| chrX:108491124
|
A | C | 6 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0080others(3): Show | 6 | HG00558.hp2 HG00609.hp1 NA18947.hp2 others(3): Show |
intron_variant | MODIFIER | c.82-48622A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108491124 | ||||||
| chrX:108491281
|
C | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-48465C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108491281 | ||||||
| chrX:108491343
|
A | G | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.82-48403A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108491343 | ||||||
| chrX:108491369
|
G | A | 1 | a0001c0001t0001g0167 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.82-48377G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108491369 | ||||||
| chrX:108491486
|
T | C | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-48260T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108491486 | ||||||
| chrX:108492462
|
C | G | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-47284C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108492462 | ||||||
| chrX:108492517
|
G | T | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-47229G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108492517 | ||||||
| chrX:108493242
|
T | G | 1 | a0002c0002t0001g0069 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.82-46504T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108493242 | ||||||
| chrX:108493807
|
G | GA | 2 | a0001c0001t0001g0159a0001c0001t0001g0229 | 2 | HG00099.hp1 HG01884.hp1 |
intron_variant | MODIFIER | c.82-45924dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108493807 | |||||
| chrX:108493807
|
GA | G | 144 | a0001c0001t0001g0001a0001c0001t0001g0044a0001c0001t0001g0058others(141): Show | 144 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(141): Show |
intron_variant | MODIFIER | c.82-45924delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108493807 | |||||
| chrX:108493807
|
GAA | G | 11 | a0001c0001t0001g0043a0001c0001t0001g0087a0001c0001t0001g0088others(8): Show | 11 | HG00438.hp2 HG02080.hp2 HG02155.hp2 others(8): Show |
intron_variant | MODIFIER | c.82-45925_82-45924d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108493807 | |||||
| chrX:108494006
|
C | G | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.82-45740C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108494006 | ||||||
| chrX:108494189
|
A | G | 1 | a0002c0002t0001g0015 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.82-45557A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108494189 | ||||||
| chrX:108494333
|
A | G | 1 | a0001c0001t0001g0125 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.82-45413A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108494333 | ||||||
| chrX:108494371
|
G | A | 30 | a0002c0002t0001g0003a0002c0002t0001g0012a0002c0002t0001g0013others(27): Show | 30 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(27): Show |
intron_variant | MODIFIER | c.82-45375G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108494371 | ||||||
| chrX:108494500
|
C | T | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-45246C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108494500 | ||||||
| chrX:108494501
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-45245A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108494501 | ||||||
| chrX:108494591
|
AT | A | 2 | a0002c0002t0001g0068a0002c0002t0001g0069 | 2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.82-45143delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108494591 | |||||
| chrX:108494876
|
C | T | 1 | a0001c0001t0001g0250 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.82-44870C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108494876 | ||||||
| chrX:108495001
|
G | A | 154 | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0044others(151): Show | 154 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(151): Show |
intron_variant | MODIFIER | c.82-44745G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495001 | ||||||
| chrX:108495200
|
C | T | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.82-44546C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495200 | ||||||
| chrX:108495246
|
A | AT | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44500_82-44499i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495246 | ||||||
| chrX:108495249
|
G | T | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44497G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495249 | ||||||
| chrX:108495254
|
C | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44492C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495254 | ||||||
| chrX:108495257
|
T | TATAA | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44488_82-44487i others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108495257 | |||||
| chrX:108495262
|
C | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44484C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495262 | ||||||
| chrX:108495263
|
G | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44483G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495263 | ||||||
| chrX:108495265
|
T | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44481T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495265 | ||||||
| chrX:108495267
|
AG | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44478delG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495267 | ||||||
| chrX:108495274
|
A | T | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44472A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495274 | ||||||
| chrX:108495280
|
AT | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44465delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495280 | ||||||
| chrX:108495282
|
C | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44464C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495282 | ||||||
| chrX:108495285
|
C | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44461C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495285 | ||||||
| chrX:108495287
|
C | T | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44459C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495287 | ||||||
| chrX:108495288
|
C | T | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44458C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495288 | ||||||
| chrX:108495291
|
G | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44455G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495291 | ||||||
| chrX:108495293
|
G | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44453G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495293 | ||||||
| chrX:108495294
|
C | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44452C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495294 | ||||||
| chrX:108495297
|
G | T | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44449G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495297 | ||||||
| chrX:108495299
|
TG | T | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44446delG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495299 | ||||||
| chrX:108495303
|
G | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44443G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495303 | ||||||
| chrX:108495307
|
TC | T | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44438delC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495307 | ||||||
| chrX:108495309
|
T | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44437T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495309 | ||||||
| chrX:108495310
|
T | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44436T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495310 | ||||||
| chrX:108495312
|
G | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44434G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495312 | ||||||
| chrX:108495314
|
C | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44432C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495314 | ||||||
| chrX:108495315
|
G | T | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44431G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495315 | ||||||
| chrX:108495316
|
T | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44430T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495316 | ||||||
| chrX:108495321
|
C | T | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44425C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495321 | ||||||
| chrX:108495322
|
C | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44424C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495322 | ||||||
| chrX:108495327
|
G | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44419G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495327 | ||||||
| chrX:108495328
|
C | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44418C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495328 | ||||||
| chrX:108495329
|
C | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44417C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495329 | ||||||
| chrX:108495331
|
AGT | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44414_82-44413d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495331 | ||||||
| chrX:108495334
|
T | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44412T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495334 | ||||||
| chrX:108495335
|
C | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44411C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495335 | ||||||
| chrX:108495337
|
T | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44409T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495337 | ||||||
| chrX:108495342
|
T | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44404T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495342 | ||||||
| chrX:108495345
|
T | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44401T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495345 | ||||||
| chrX:108495346
|
C | T | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44400C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495346 | ||||||
| chrX:108495348
|
A | T | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44398A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495348 | ||||||
| chrX:108495350
|
AT | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44393delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108495350 | |||||
| chrX:108495353
|
T | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44393T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495353 | ||||||
| chrX:108495359
|
T | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44387T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495359 | ||||||
| chrX:108495360
|
G | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44386G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495360 | ||||||
| chrX:108495361
|
T | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44385T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495361 | ||||||
| chrX:108495363
|
T | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44383T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495363 | ||||||
| chrX:108495366
|
T | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44380T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495366 | ||||||
| chrX:108495367
|
C | T | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44379C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495367 | ||||||
| chrX:108495369
|
G | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44377G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495369 | ||||||
| chrX:108495371
|
G | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44375G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495371 | ||||||
| chrX:108495375
|
G | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44371G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495375 | ||||||
| chrX:108495376
|
TCC | T | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44369_82-44368d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495376 | ||||||
| chrX:108495380
|
T | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44366T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495380 | ||||||
| chrX:108495381
|
G | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44365G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495381 | ||||||
| chrX:108495382
|
T | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44364T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495382 | ||||||
| chrX:108495386
|
AC | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44359delC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495386 | ||||||
| chrX:108495389
|
G | T | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44357G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495389 | ||||||
| chrX:108495391
|
G | T | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44355G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495391 | ||||||
| chrX:108495394
|
T | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44352T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495394 | ||||||
| chrX:108495395
|
G | T | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44351G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495395 | ||||||
| chrX:108495400
|
C | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44346C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495400 | ||||||
| chrX:108495402
|
C | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44344C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495402 | ||||||
| chrX:108495403
|
T | TAAATA | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44342_82-44341i others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108495403 | |||||
| chrX:108495405
|
G | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44341G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495405 | ||||||
| chrX:108495406
|
C | T | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44340C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495406 | ||||||
| chrX:108495408
|
A | G | 1 | a0001c0001t0001g0121 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.82-44338A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495408 | ||||||
| chrX:108495632
|
A | G | 3 | a0001c0001t0001g0097a0001c0001t0001g0100a0001c0001t0001g0105 | 3 | HG00408.hp1 NA18973.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.82-44114A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495632 | ||||||
| chrX:108495773
|
G | A | 1 | a0001c0003t0001g0218 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.82-43973G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495773 | ||||||
| chrX:108495878
|
A | C | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-43868A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495878 | ||||||
| chrX:108495944
|
G | A | 1 | a0001c0001t0001g0247 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.82-43802G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495944 | ||||||
| chrX:108496185
|
G | A | 1 | a0001c0001t0001g0168 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.82-43561G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108496185 | ||||||
| chrX:108496289
|
G | GT | 2 | a0001c0001t0001g0264a0006c0017t0001g0102 | 2 | NA18940.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.82-43450dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108496289 | |||||
| chrX:108496317
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-43429A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108496317 | ||||||
| chrX:108496459
|
A | AT | 1 | a0001c0001t0001g0137 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.82-43280dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108496459 | |||||
| chrX:108496598
|
A | AT | 1 | a0001c0001t0001g0137 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.82-43142dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108496598 | |||||
| chrX:108496607
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-43139G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108496607 | ||||||
| chrX:108496692
|
C | T | 5 | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0050others(2): Show | 5 | HG00408.hp2 HG02683.hp1 NA18945.hp1 others(2): Show |
intron_variant | MODIFIER | c.82-43054C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108496692 | ||||||
| chrX:108496807
|
T | A | 1 | a0001c0001t0001g0104 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.82-42939T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108496807 | ||||||
| chrX:108496916
|
T | G | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-42830T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108496916 | ||||||
| chrX:108497039
|
A | G | 1 | a0002c0002t0001g0070 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.82-42707A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108497039 | ||||||
| chrX:108497117
|
A | C | 2 | a0001c0001t0001g0206a0001c0001t0001g0208 | 2 | HG01243.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.82-42629A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108497117 | ||||||
| chrX:108497436
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-42310C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108497436 | ||||||
| chrX:108497576
|
C | A | 1 | a0001c0001t0001g0189 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.82-42170C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108497576 | ||||||
| chrX:108497981
|
G | T | 1 | a0002c0009t0001g0009 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.82-41765G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108497981 | ||||||
| chrX:108498360
|
A | G | 8 | a0002c0002t0001g0011a0002c0002t0001g0035a0002c0002t0001g0036others(5): Show | 8 | HG02723.hp2 HG02818.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.82-41386A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108498360 | ||||||
| chrX:108498526
|
A | G | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-41220A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108498526 | ||||||
| chrX:108498860
|
G | C | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.82-40886G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108498860 | ||||||
| chrX:108498893
|
G | A | 2 | a0001c0001t0001g0149a0001c0001t0001g0160 | 2 | HG01169.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.82-40853G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108498893 | ||||||
| chrX:108498982
|
T | C | 7 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(4): Show | 7 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.82-40764T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108498982 | ||||||
| chrX:108499006
|
C | T | 1 | a0002c0002t0001g0040 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.82-40740C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108499006 | ||||||
| chrX:108499117
|
T | C | 1 | a0002c0002t0001g0011 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.82-40629T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108499117 | ||||||
| chrX:108499336
|
G | A | 1 | a0002c0009t0001g0009 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.82-40410G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108499336 | ||||||
| chrX:108499755
|
C | T | 18 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(15): Show | 18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.82-39991C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108499755 | ||||||
| chrX:108500317
|
A | G | 1 | a0001c0001t0001g0170 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.82-39429A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108500317 | ||||||
| chrX:108500450
|
G | A | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-39296G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108500450 | ||||||
| chrX:108501105
|
G | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-38641G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108501105 | ||||||
| chrX:108501583
|
C | T | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-38163C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108501583 | ||||||
| chrX:108501762
|
T | C | 1 | a0002c0002t0001g0041 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.82-37984T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108501762 | ||||||
| chrX:108501808
|
T | C | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.82-37938T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108501808 | ||||||
| chrX:108501969
|
TTC | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-37775_82-37774d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108501969 | |||||
| chrX:108501991
|
A | G | 1 | a0002c0002t0001g0004 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.82-37755A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108501991 | ||||||
| chrX:108502258
|
A | AGTTTT | 17 | a0001c0001t0001g0051a0001c0001t0001g0074a0001c0001t0001g0078others(14): Show | 17 | HG00558.hp2 HG00609.hp1 HG01256.hp1 others(14): Show |
intron_variant | MODIFIER | c.82-37452_82-37448d others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108502258 | |||||
| chrX:108502258
|
AGTTTT | A | 50 | a0001c0001t0001g0061a0001c0001t0001g0064a0001c0001t0001g0177others(47): Show | 50 | HG00423.hp2 HG01975.hp2 HG01978.hp2 others(47): Show |
intron_variant | MODIFIER | c.82-37452_82-37448d others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108502258 | |||||
| chrX:108502258
|
AGTTTTGT others(3): Show |
A | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-37457_82-37448d others(12): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108502258 | |||||
| chrX:108502258
|
AGTTTTGT others(8): Show |
A | 1 | a0002c0002t0001g0070 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.82-37462_82-37448d others(17): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108502258 | |||||
| chrX:108502367
|
C | T | 4 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0010g0198others(1): Show | 4 | HG00099.hp2 HG03490.hp1 HG03704.hp2 others(1): Show |
intron_variant | MODIFIER | c.82-37379C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108502367 | ||||||
| chrX:108502406
|
C | T | 1 | a0001c0001t0001g0144 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.82-37340C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108502406 | ||||||
| chrX:108503148
|
T | C | 3 | a0004c0006t0001g0244a0004c0006t0001g0245a0004c0006t0001g0246 | 3 | NA18988.hp1 NA18990.hp1 NA19003.hp1 |
intron_variant | MODIFIER | c.82-36598T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108503148 | ||||||
| chrX:108503201
|
G | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-36545G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108503201 | ||||||
| chrX:108503314
|
A | G | 1 | a0001c0001t0001g0131 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.82-36432A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108503314 | ||||||
| chrX:108503332
|
C | T | 1 | a0001c0001t0001g0097 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.82-36414C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108503332 | ||||||
| chrX:108503693
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-36053T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108503693 | ||||||
| chrX:108503785
|
G | A | 1 | a0001c0001t0001g0051 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.82-35961G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108503785 | ||||||
| chrX:108503891
|
A | C | 1 | a0002c0002t0001g0041 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.82-35855A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108503891 | ||||||
| chrX:108504206
|
C | T | 8 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(5): Show | 8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.82-35540C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108504206 | ||||||
| chrX:108504644
|
A | G | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.82-35102A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108504644 | ||||||
| chrX:108504668
|
G | T | 2 | a0001c0003t0001g0216a0001c0003t0001g0217 | 2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.82-35078G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108504668 | ||||||
| chrX:108504682
|
C | A | 1 | a0001c0001t0001g0265 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.82-35064C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108504682 | ||||||
| chrX:108504697
|
T | C | 1 | a0001c0001t0001g0170 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.82-35049T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108504697 | ||||||
| chrX:108505252
|
T | TA | 8 | a0001c0001t0001g0163a0001c0001t0001g0179a0001c0001t0001g0190others(5): Show | 8 | HG00280.hp1 HG01167.hp1 HG01169.hp2 others(5): Show |
intron_variant | MODIFIER | c.82-34482dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108505252 | |||||
| chrX:108505252
|
TA | T | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(45): Show |
intron_variant | MODIFIER | c.82-34482delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108505252 | |||||
| chrX:108505287
|
A | G | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.82-34459A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108505287 | ||||||
| chrX:108505354
|
A | G | 1 | a0001c0001t0001g0074 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.82-34392A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108505354 | ||||||
| chrX:108505572
|
T | C | 1 | a0001c0001t0001g0229 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.82-34174T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108505572 | ||||||
| chrX:108505807
|
G | A | 2 | a0001c0001t0001g0046a0001c0001t0001g0052 | 2 | NA19055.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.82-33939G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108505807 | ||||||
| chrX:108506283
|
G | A | 2 | a0001c0001t0001g0061a0001c0001t0001g0064 | 2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.82-33463G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108506283 | ||||||
| chrX:108506341
|
C | CATCT | 1 | a0003c0005t0001g0114 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.82-33359_82-33356d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108506341 | |||||
| chrX:108506341
|
CATCT | C | 118 | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0044others(115): Show | 118 | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(115): Show |
intron_variant | MODIFIER | c.82-33359_82-33356d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108506341 | |||||
| chrX:108506341
|
CATCTATC others(1): Show |
C | 68 | a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0076others(65): Show | 68 | HG00558.hp2 HG00609.hp1 HG00621.hp1 others(65): Show |
intron_variant | MODIFIER | c.82-33363_82-33356d others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108506341 | |||||
| chrX:108506341
|
CATCTATC others(5): Show |
C | 8 | a0001c0001t0001g0051a0001c0001t0001g0086a0001c0001t0001g0089others(5): Show | 8 | HG00099.hp1 HG00673.hp1 HG01255.hp1 others(5): Show |
intron_variant | MODIFIER | c.82-33367_82-33356d others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108506341 | |||||
| chrX:108506341
|
CATCTATC others(9): Show |
C | 4 | a0001c0001t0001g0144a0001c0001t0001g0184a0001c0001t0001g0193others(1): Show | 4 | HG00140.hp1 HG01123.hp2 HG01934.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-33371_82-33356d others(18): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108506341 | |||||
| chrX:108506341
|
CATCTATC others(13): Show |
C | 1 | a0002c0002t0001g0008 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.82-33375_82-33356d others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108506341 | |||||
| chrX:108506571
|
T | C | 1 | a0001c0001t0001g0151 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.82-33175T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108506571 | ||||||
| chrX:108506666
|
G | A | 8 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(5): Show | 8 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.82-33080G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108506666 | ||||||
| chrX:108506711
|
G | A | 2 | a0001c0001t0001g0154a0001c0001t0001g0157 | 2 | HG02015.hp1 NA19084.hp2 |
intron_variant | MODIFIER | c.82-33035G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108506711 | ||||||
| chrX:108507098
|
C | T | 2 | a0001c0001t0001g0190a0001c0001t0001g0192 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.82-32648C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507098 | ||||||
| chrX:108507165
|
G | A | 1 | a0002c0002t0001g0039 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.82-32581G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507165 | ||||||
| chrX:108507247
|
C | A | 1 | a0001c0001t0001g0064 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.82-32499C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507247 | ||||||
| chrX:108507247
|
CA | C | 1 | a0001c0001t0001g0269 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.82-32485delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108507247 | |||||
| chrX:108507250
|
A | C | 2 | a0001c0001t0001g0108a0001c0001t0001g0188 | 2 | HG01081.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.82-32496A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507250 | ||||||
| chrX:108507262
|
G | A | 47 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(44): Show | 47 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(44): Show |
intron_variant | MODIFIER | c.82-32484G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507262 | ||||||
| chrX:108507262
|
GA | G | 11 | a0001c0001t0001g0149a0001c0001t0001g0221a0001c0001t0001g0222others(8): Show | 11 | HG02080.hp2 HG02165.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.82-32471delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108507262 | |||||
| chrX:108507262
|
GAA | G | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-32472_82-32471d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108507262 | |||||
| chrX:108507263
|
A | AG | 2 | a0002c0002t0001g0013a0002c0002t0001g0025 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.82-32483_82-32482i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507263 | ||||||
| chrX:108507263
|
A | G | 45 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(42): Show | 45 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(42): Show |
intron_variant | MODIFIER | c.82-32483A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507263 | ||||||
| chrX:108507314
|
A | C | 2 | a0001c0001t0001g0106a0001c0001t0001g0107 | 2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.82-32432A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507314 | ||||||
| chrX:108507350
|
G | A | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-32396G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507350 | ||||||
| chrX:108507464
|
C | T | 1 | a0001c0001t0001g0187 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.82-32282C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507464 | ||||||
| chrX:108507547
|
G | A | 1 | a0005c0007t0001g0262 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.82-32199G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507547 | ||||||
| chrX:108507725
|
G | A | 2 | a0001c0001t0001g0046a0001c0001t0001g0052 | 2 | NA19055.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.82-32021G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507725 | ||||||
| chrX:108507758
|
A | G | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.82-31988A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507758 | ||||||
| chrX:108507764
|
C | T | 1 | a0002c0004t0002g0073 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.82-31982C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507764 | ||||||
| chrX:108508211
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-31535C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108508211 | ||||||
| chrX:108508260
|
C | G | 1 | a0008c0014t0001g0252 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.82-31486C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108508260 | ||||||
| chrX:108508557
|
C | CA | 6 | a0001c0001t0001g0186a0001c0001t0001g0189a0001c0001t0001g0209others(3): Show | 6 | HG00423.hp1 HG01074.hp1 HG03927.hp1 others(3): Show |
intron_variant | MODIFIER | c.82-31165dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108508557 | |||||
| chrX:108508557
|
C | CAA | 43 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(40): Show | 43 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(40): Show |
intron_variant | MODIFIER | c.82-31166_82-31165d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108508557 | |||||
| chrX:108508557
|
C | CAAA | 4 | a0002c0002t0001g0019a0002c0002t0001g0023a0002c0004t0003g0042others(1): Show | 4 | HG02080.hp2 HG03098.hp1 NA18967.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-31167_82-31165d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108508557 | |||||
| chrX:108508557
|
CA | C | 35 | a0001c0001t0001g0051a0001c0001t0001g0061a0001c0001t0001g0074others(32): Show | 35 | HG01106.hp1 HG01109.hp1 HG01123.hp1 others(32): Show |
intron_variant | MODIFIER | c.82-31165delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108508557 | |||||
| chrX:108508557
|
CAA | C | 86 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(83): Show | 86 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(83): Show |
intron_variant | MODIFIER | c.82-31166_82-31165d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108508557 | |||||
| chrX:108508557
|
CAAA | C | 4 | a0001c0001t0001g0050a0001c0001t0001g0118a0001c0001t0001g0228others(1): Show | 4 | HG01256.hp1 NA18939.hp1 NA19070.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-31167_82-31165d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108508557 | |||||
| chrX:108508557
|
CAAAA | C | 3 | a0002c0004t0001g0263a0005c0007t0001g0262a0011c0010t0001g0261 | 3 | HG02055.hp1 HG02523.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.82-31168_82-31165d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108508557 | |||||
| chrX:108508557
|
CAAAAA | C | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-31169_82-31165d others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108508557 | |||||
| chrX:108508557
|
CAAAAAAA others(1): Show |
C | 1 | a0005c0007t0001g0260 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.82-31172_82-31165d others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108508557 | |||||
| chrX:108508896
|
A | G | 1 | a0001c0001t0001g0236 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.82-30850A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108508896 | ||||||
| chrX:108509111
|
A | G | 1 | a0001c0001t0001g0079 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.82-30635A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108509111 | ||||||
| chrX:108509212
|
A | G | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-30534A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108509212 | ||||||
| chrX:108509305
|
G | A | 1 | a0001c0001t0001g0120 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.82-30441G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108509305 | ||||||
| chrX:108509326
|
G | T | 4 | a0001c0001t0001g0163a0001c0001t0001g0248a0001c0001t0001g0249others(1): Show | 4 | HG02559.hp2 HG02970.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-30420G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108509326 | ||||||
| chrX:108509346
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-30400C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108509346 | ||||||
| chrX:108509967
|
A | AG | 1 | a0001c0001t0001g0264 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.82-29779_82-29778i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108509967 | ||||||
| chrX:108509970
|
C | G | 1 | a0001c0001t0001g0180 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.82-29776C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108509970 | ||||||
| chrX:108510165
|
T | TG | 1 | a0001c0001t0001g0264 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.82-29578dupG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108510165 | |||||
| chrX:108510184
|
A | T | 1 | a0001c0001t0001g0061 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.82-29562A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108510184 | ||||||
| chrX:108510219
|
TG | T | 1 | a0001c0001t0001g0264 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.82-29524delG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108510219 | |||||
| chrX:108510274
|
A | C | 1 | a0001c0001t0001g0264 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.82-29472A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108510274 | ||||||
| chrX:108510275
|
C | A | 1 | a0001c0001t0001g0264 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.82-29471C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108510275 | ||||||
| chrX:108510407
|
C | CA | 1 | a0001c0001t0001g0264 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.82-29338dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108510407 | |||||
| chrX:108510469
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-29277C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108510469 | ||||||
| chrX:108510506
|
C | T | 1 | a0001c0001t0001g0180 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.82-29240C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108510506 | ||||||
| chrX:108510741
|
G | T | 1 | a0001c0003t0007g0220 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.82-29005G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108510741 | ||||||
| chrX:108510763
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-28983A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108510763 | ||||||
| chrX:108510771
|
G | GT | 1 | a0001c0001t0001g0264 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.82-28970dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108510771 | |||||
| chrX:108510843
|
T | A | 2 | a0001c0001t0001g0060a0001c0001t0004g0059 | 2 | HG02897.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.82-28903T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108510843 | ||||||
| chrX:108510864
|
C | CAAAT | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-28880_82-28879i others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108510864 | |||||
| chrX:108511099
|
AT | A | 1 | a0001c0003t0001g0211 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.82-28642delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108511099 | |||||
| chrX:108511421
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-28325T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108511421 | ||||||
| chrX:108511446
|
G | T | 2 | a0002c0002t0001g0068a0002c0002t0001g0069 | 2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.82-28300G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108511446 | ||||||
| chrX:108511464
|
C | T | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-28282C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108511464 | ||||||
| chrX:108511758
|
AAAG | A | 1 | a0001c0001t0001g0161 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.82-27985_82-27983d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108511758 | |||||
| chrX:108511953
|
T | C | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.82-27793T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108511953 | ||||||
| chrX:108512319
|
A | G | 1 | a0001c0003t0007g0220 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.82-27427A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108512319 | ||||||
| chrX:108512497
|
T | C | 1 | a0001c0001t0001g0087 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.82-27249T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108512497 | ||||||
| chrX:108512532
|
A | T | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-27214A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108512532 | ||||||
| chrX:108512533
|
A | AT | 1 | a0001c0001t0001g0060 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.82-27205dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108512533 | |||||
| chrX:108512552
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-27194G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108512552 | ||||||
| chrX:108512693
|
C | T | 1 | a0001c0001t0001g0168 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.82-27053C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108512693 | ||||||
| chrX:108513223
|
A | G | 182 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(179): Show | 182 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(179): Show |
intron_variant | MODIFIER | c.82-26523A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108513223 | ||||||
| chrX:108513229
|
C | T | 1 | a0002c0002t0001g0010 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.82-26517C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108513229 | ||||||
| chrX:108513297
|
CA | C | 1 | a0001c0001t0001g0234 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.82-26438delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108513297 | |||||
| chrX:108513334
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-26412A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108513334 | ||||||
| chrX:108513529
|
A | G | 2 | a0005c0007t0001g0260a0005c0007t0001g0262 | 2 | HG02523.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.82-26217A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108513529 | ||||||
| chrX:108513636
|
G | GT | 1 | a0001c0001t0001g0123 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.82-26104dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108513636 | |||||
| chrX:108513785
|
CAA | C | 47 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(44): Show | 47 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(44): Show |
intron_variant | MODIFIER | c.82-25960_82-25959d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108513785 | ||||||
| chrX:108513786
|
AAG | A | 1 | a0002c0002t0001g0032 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.82-25959_82-25958d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108513786 | ||||||
| chrX:108513941
|
G | A | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.82-25805G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108513941 | ||||||
| chrX:108513980
|
T | C | 1 | a0001c0001t0001g0144 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.82-25766T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108513980 | ||||||
| chrX:108514132
|
C | A | 1 | a0001c0001t0001g0243 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.82-25614C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108514132 | ||||||
| chrX:108514209
|
C | G | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.82-25537C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108514209 | ||||||
| chrX:108514596
|
T | C | 1 | a0001c0001t0001g0221 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.82-25150T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108514596 | ||||||
| chrX:108514620
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-25126G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108514620 | ||||||
| chrX:108514624
|
T | C | 1 | a0001c0001t0001g0105 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.82-25122T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108514624 | ||||||
| chrX:108514839
|
T | C | 1 | a0007c0013t0001g0126 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.82-24907T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108514839 | ||||||
| chrX:108515128
|
A | G | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.82-24618A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108515128 | ||||||
| chrX:108515572
|
G | GT | 3 | a0001c0001t0001g0084a0001c0001t0001g0196a0001c0003t0001g0215 | 3 | NA18943.hp1 NA19030.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.82-24164dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108515572 | |||||
| chrX:108516284
|
C | T | 2 | a0002c0002t0001g0068a0002c0002t0001g0069 | 2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.82-23462C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108516284 | ||||||
| chrX:108516639
|
C | CT | 1 | a0005c0007t0001g0260 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.82-23107_82-23106i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108516639 | ||||||
| chrX:108516640
|
A | G | 1 | a0005c0007t0001g0260 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.82-23106A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108516640 | ||||||
| chrX:108516642
|
T | G | 1 | a0005c0007t0001g0260 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.82-23104T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108516642 | ||||||
| chrX:108516649
|
A | G | 1 | a0001c0001t0001g0236 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.82-23097A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108516649 | ||||||
| chrX:108516699
|
C | A | 1 | a0001c0003t0007g0220 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.82-23047C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108516699 | ||||||
| chrX:108516893
|
T | C | 1 | a0001c0001t0001g0120 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.82-22853T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108516893 | ||||||
| chrX:108516901
|
G | A | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.82-22845G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108516901 | ||||||
| chrX:108517749
|
A | G | 6 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(3): Show | 6 | HG01106.hp1 HG01884.hp2 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.82-21997A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108517749 | ||||||
| chrX:108517876
|
T | C | 2 | a0001c0001t0001g0061a0001c0001t0001g0064 | 2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.82-21870T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108517876 | ||||||
| chrX:108518448
|
C | T | 1 | a0001c0001t0001g0196 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.82-21298C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108518448 | ||||||
| chrX:108518576
|
G | A | 8 | a0002c0002t0001g0011a0002c0002t0001g0035a0002c0002t0001g0036others(5): Show | 8 | HG02723.hp2 HG02818.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.82-21170G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108518576 | ||||||
| chrX:108518863
|
C | T | 2 | a0001c0001t0001g0055a0001c0001t0001g0056 | 2 | HG02071.hp1 HG02165.hp1 |
intron_variant | MODIFIER | c.82-20883C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108518863 | ||||||
| chrX:108518876
|
G | A | 126 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(123): Show | 126 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(123): Show |
intron_variant | MODIFIER | c.82-20870G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108518876 | ||||||
| chrX:108519054
|
T | C | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.82-20692T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108519054 | ||||||
| chrX:108519353
|
T | C | 4 | a0001c0001t0001g0202a0001c0001t0001g0203a0001c0001t0001g0242others(1): Show | 4 | HG02109.hp2 HG02486.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-20393T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108519353 | ||||||
| chrX:108519359
|
T | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-20387T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108519359 | ||||||
| chrX:108520047
|
G | C | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-19699G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108520047 | ||||||
| chrX:108520308
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-19438T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108520308 | ||||||
| chrX:108520344
|
G | A | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-19402G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108520344 | ||||||
| chrX:108520409
|
C | T | 3 | a0002c0002t0001g0014a0002c0002t0001g0023a0002c0002t0001g0024 | 3 | NA18949.hp1 NA18967.hp1 NA18998.hp2 |
intron_variant | MODIFIER | c.82-19337C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108520409 | ||||||
| chrX:108520439
|
A | G | 1 | a0001c0001t0001g0248 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.82-19307A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108520439 | ||||||
| chrX:108520574
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-19172C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108520574 | ||||||
| chrX:108520574
|
CCT | C | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.82-19171_82-19170d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108520574 | ||||||
| chrX:108520578
|
T | C | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-19168T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108520578 | ||||||
| chrX:108520698
|
A | T | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-19048A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108520698 | ||||||
| chrX:108521103
|
A | G | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-18643A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108521103 | ||||||
| chrX:108521264
|
A | G | 1 | a0001c0001t0001g0047 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.82-18482A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108521264 | ||||||
| chrX:108521530
|
TCTTCTAT others(23): Show |
T | 1 | a0001c0001t0001g0255 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.82-18215_82-18186d others(32): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108521530 | ||||||
| chrX:108521535
|
T | C | 1 | a0001c0001t0001g0230 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.82-18211T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108521535 | ||||||
| chrX:108521791
|
C | T | 1 | a0001c0001t0001g0105 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.82-17955C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108521791 | ||||||
| chrX:108522362
|
G | A | 8 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(5): Show | 8 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.82-17384G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108522362 | ||||||
| chrX:108522364
|
C | T | 1 | a0001c0001t0001g0120 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.82-17382C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108522364 | ||||||
| chrX:108522737
|
T | C | 1 | a0001c0001t0001g0076 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.82-17009T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108522737 | ||||||
| chrX:108522755
|
G | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-16991G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108522755 | ||||||
| chrX:108522866
|
TA | T | 183 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(180): Show | 183 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(180): Show |
intron_variant | MODIFIER | c.82-16870delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108522866 | |||||
| chrX:108522880
|
C | CT | 1 | a0002c0002t0001g0065 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.82-16851dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108522880 | |||||
| chrX:108522880
|
CT | C | 18 | a0001c0003t0001g0215a0002c0002t0001g0002a0002c0002t0001g0004others(15): Show | 18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.82-16851delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108522880 | |||||
| chrX:108522978
|
A | G | 1 | a0001c0001t0001g0238 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.82-16768A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108522978 | ||||||
| chrX:108523027
|
G | A | 8 | a0001c0001t0001g0122a0001c0001t0001g0131a0001c0001t0001g0147others(5): Show | 8 | HG02559.hp2 HG02723.hp1 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.82-16719G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108523027 | ||||||
| chrX:108523236
|
A | T | 1 | a0001c0001t0001g0159 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.82-16510A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108523236 | ||||||
| chrX:108523451
|
C | T | 1 | a0001c0001t0001g0153 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.82-16295C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108523451 | ||||||
| chrX:108523535
|
G | A | 1 | a0001c0001t0001g0203 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.82-16211G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108523535 | ||||||
| chrX:108523918
|
GTGAT | G | 1 | a0001c0001t0001g0266 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.82-15827_82-15824d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108523918 | ||||||
| chrX:108523952
|
T | G | 1 | a0002c0002t0001g0007 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.82-15794T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108523952 | ||||||
| chrX:108524108
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-15638A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108524108 | ||||||
| chrX:108524305
|
T | G | 1 | a0001c0001t0001g0256 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.82-15441T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108524305 | ||||||
| chrX:108524424
|
AT | A | 1 | a0001c0001t0001g0130 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.82-15315delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108524424 | |||||
| chrX:108524539
|
T | C | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-15207T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108524539 | ||||||
| chrX:108524784
|
T | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-14962T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108524784 | ||||||
| chrX:108524813
|
G | C | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-14933G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108524813 | ||||||
| chrX:108524879
|
A | C | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-14867A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108524879 | ||||||
| chrX:108525044
|
GT | G | 1 | a0001c0001t0001g0085 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.82-14700delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108525044 | |||||
| chrX:108525073
|
G | C | 184 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(181): Show | 184 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(181): Show |
intron_variant | MODIFIER | c.82-14673G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108525073 | ||||||
| chrX:108525091
|
AT | A | 1 | a0001c0001t0001g0085 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.82-14653delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108525091 | |||||
| chrX:108525133
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-14613T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108525133 | ||||||
| chrX:108525136
|
T | C | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.82-14610T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108525136 | ||||||
| chrX:108525247
|
CTCTCTA | C | 1 | a0001c0001t0001g0195 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.82-14492_82-14487d others(8): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108525247 | |||||
| chrX:108525364
|
C | CA | 1 | a0001c0001t0001g0085 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.82-14380dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108525364 | |||||
| chrX:108525418
|
A | AT | 1 | a0001c0001t0001g0085 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.82-14321dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108525418 | |||||
| chrX:108525433
|
CTG | C | 1 | a0001c0001t0001g0083 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.82-14312_82-14311d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108525433 | ||||||
| chrX:108525437
|
C | A | 18 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(15): Show | 18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.82-14309C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108525437 | ||||||
| chrX:108525446
|
A | AT | 1 | a0001c0001t0001g0085 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.82-14295dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108525446 | |||||
| chrX:108525587
|
C | CT | 1 | a0002c0002t0001g0008 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.82-14150dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108525587 | |||||
| chrX:108525587
|
CT | C | 2 | a0001c0001t0001g0085a0001c0001t0001g0202 | 2 | HG02486.hp1 NA18981.hp1 |
intron_variant | MODIFIER | c.82-14150delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108525587 | |||||
| chrX:108525603
|
T | G | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-14143T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108525603 | ||||||
| chrX:108525690
|
G | A | 1 | a0001c0001t0001g0108 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.82-14056G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108525690 | ||||||
| chrX:108525701
|
C | A | 2 | a0001c0001t0001g0124a0001c0001t0001g0169 | 2 | HG02630.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.82-14045C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108525701 | ||||||
| chrX:108525752
|
T | TC | 1 | a0001c0001t0001g0085 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.82-13993dupC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108525752 | |||||
| chrX:108525913
|
T | TA | 1 | a0001c0001t0001g0085 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.82-13832dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108525913 | |||||
| chrX:108526070
|
AC | A | 1 | a0001c0003t0001g0062 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.82-13675delC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526070 | ||||||
| chrX:108526271
|
T | C | 2 | a0001c0001t0001g0061a0001c0001t0001g0064 | 2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.82-13475T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526271 | ||||||
| chrX:108526364
|
C | A | 55 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(52): Show | 55 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(52): Show |
intron_variant | MODIFIER | c.82-13382C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526364 | ||||||
| chrX:108526497
|
TTCTC | T | 1 | a0002c0002t0001g0015 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.82-13247_82-13244d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526497 | |||||
| chrX:108526517
|
CTTCT | C | 3 | a0001c0001t0001g0187a0001c0001t0001g0235a0002c0004t0003g0042 | 3 | HG00735.hp1 HG01071.hp1 HG02080.hp2 |
intron_variant | MODIFIER | c.82-13216_82-13213d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526517 | |||||
| chrX:108526520
|
C | T | 1 | a0002c0002t0001g0066 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.82-13226C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526520 | ||||||
| chrX:108526562
|
TC | T | 1 | a0001c0001t0001g0255 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.82-13182delC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526562 | |||||
| chrX:108526571
|
T | TCCTC | 1 | a0001c0001t0001g0234 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.82-13153_82-13150d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526571 | |||||
| chrX:108526571
|
TCCTC | T | 7 | a0001c0001t0001g0203a0002c0002t0001g0005a0002c0002t0001g0007others(4): Show | 7 | HG02080.hp2 HG02109.hp2 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.82-13153_82-13150d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526571 | |||||
| chrX:108526579
|
C | CCT | 1 | a0001c0001t0001g0255 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.82-13166_82-13165i others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526579 | |||||
| chrX:108526588
|
C | CT | 1 | a0001c0001t0001g0255 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.82-13158_82-13157i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526588 | ||||||
| chrX:108526589
|
CTCCCTCC others(1): Show |
C | 12 | a0002c0002t0001g0004a0002c0002t0001g0010a0002c0002t0001g0020others(9): Show | 12 | HG01975.hp2 HG01978.hp2 HG02109.hp1 others(9): Show |
intron_variant | MODIFIER | c.82-13155_82-13148d others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526589 | |||||
| chrX:108526589
|
CTCCCTCC others(5): Show |
C | 6 | a0002c0002t0001g0012a0002c0002t0001g0019a0002c0002t0001g0028others(3): Show | 6 | HG02922.hp2 HG03041.hp2 NA18951.hp1 others(3): Show |
intron_variant | MODIFIER | c.82-13155_82-13144d others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526589 | |||||
| chrX:108526589
|
CTCCCTCC others(9): Show |
C | 7 | a0002c0002t0001g0014a0002c0002t0001g0015a0002c0002t0001g0017others(4): Show | 7 | HG02165.hp2 HG03130.hp1 NA18612.hp1 others(4): Show |
intron_variant | MODIFIER | c.82-13155_82-13140d others(18): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526589 | |||||
| chrX:108526589
|
CTCCCTCC others(13): Show |
C | 3 | a0002c0002t0001g0023a0002c0002t0001g0032a0002c0002t0001g0268 | 3 | NA18960.hp1 NA18967.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.82-13155_82-13136d others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526589 | |||||
| chrX:108526589
|
CTCCCTCC others(17): Show |
C | 7 | a0002c0002t0001g0002a0002c0002t0001g0006a0002c0002t0001g0008others(4): Show | 7 | HG02155.hp2 HG02257.hp2 HG03453.hp1 others(4): Show |
intron_variant | MODIFIER | c.82-13155_82-13132d others(26): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526589 | |||||
| chrX:108526589
|
CTCCCTCC others(21): Show |
C | 6 | a0002c0002t0001g0003a0002c0002t0001g0013a0002c0002t0001g0022others(3): Show | 6 | HG02083.hp1 HG03491.hp1 HG03492.hp1 others(3): Show |
intron_variant | MODIFIER | c.82-13155_82-13128d others(30): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526589 | |||||
| chrX:108526591
|
C | CT | 1 | a0001c0001t0001g0255 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.82-13155_82-13154i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526591 | ||||||
| chrX:108526591
|
C | T | 2 | a0002c0002t0001g0067a0002c0009t0001g0009 | 2 | HG03098.hp1 NA18944.hp1 |
intron_variant | MODIFIER | c.82-13155C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526591 | ||||||
| chrX:108526591
|
CCCTCCTT others(1): Show |
C | 1 | a0001c0001t0001g0233 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.82-13153_82-13146d others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526591 | |||||
| chrX:108526593
|
C | T | 2 | a0002c0002t0001g0067a0002c0009t0001g0009 | 2 | HG03098.hp1 NA18944.hp1 |
intron_variant | MODIFIER | c.82-13153C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526593 | ||||||
| chrX:108526593
|
CTCCT | C | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-13151_82-13148d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526593 | |||||
| chrX:108526593
|
CTCCTTTC others(1): Show |
C | 1 | a0011c0010t0001g0261 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.82-13151_82-13144d others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526593 | |||||
| chrX:108526593
|
CTCCTTTC others(5): Show |
C | 2 | a0002c0004t0001g0263a0005c0007t0001g0262 | 2 | HG02055.hp1 HG02523.hp1 |
intron_variant | MODIFIER | c.82-13151_82-13140d others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526593 | |||||
| chrX:108526594
|
TC | T | 1 | a0001c0001t0001g0266 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.82-13150delC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526594 | |||||
| chrX:108526595
|
C | CCTTT | 12 | a0001c0001t0001g0044a0001c0001t0001g0053a0001c0001t0001g0081others(9): Show | 12 | HG00408.hp2 HG00609.hp1 HG00735.hp2 others(9): Show |
intron_variant | MODIFIER | c.82-13087_82-13084d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526595 | |||||
| chrX:108526595
|
C | CCTTTCTT others(1): Show |
2 | a0001c0001t0001g0156a0003c0005t0014g0110 | 2 | HG03704.hp1 NA18959.hp1 |
intron_variant | MODIFIER | c.82-13091_82-13084d others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526595 | |||||
| chrX:108526595
|
C | CCTTTCTT others(19): Show |
1 | a0001c0001t0001g0255 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.82-13142_82-13141i others(28): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526595 | |||||
| chrX:108526595
|
C | CCTTTCTT others(5): Show |
1 | a0001c0001t0001g0165 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.82-13095_82-13084d others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526595 | |||||
| chrX:108526595
|
C | CTCTTT | 1 | a0001c0001t0001g0105 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.82-13151_82-13150i others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526595 | ||||||
| chrX:108526595
|
C | T | 8 | a0002c0002t0001g0005a0002c0002t0001g0007a0002c0002t0001g0011others(5): Show | 8 | HG02451.hp1 HG02970.hp2 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.82-13151C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526595 | ||||||
| chrX:108526595
|
CCTTT | C | 28 | a0001c0001t0001g0046a0001c0001t0001g0060a0001c0001t0001g0074others(25): Show | 28 | HG00423.hp2 HG00558.hp1 HG01071.hp1 others(25): Show |
intron_variant | MODIFIER | c.82-13087_82-13084d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526595 | |||||
| chrX:108526595
|
CCTTTCTT others(1): Show |
C | 21 | a0001c0001t0001g0047a0001c0001t0001g0061a0001c0001t0001g0100others(18): Show | 21 | HG00408.hp1 HG01258.hp1 HG01515.hp1 others(18): Show |
intron_variant | MODIFIER | c.82-13091_82-13084d others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526595 | |||||
| chrX:108526595
|
CCTTTCTT others(5): Show |
C | 9 | a0001c0001t0001g0145a0001c0001t0001g0152a0001c0001t0001g0159others(6): Show | 9 | HG00099.hp1 HG01884.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.82-13095_82-13084d others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526595 | |||||
| chrX:108526595
|
CCTTTCTT others(9): Show |
C | 4 | a0001c0001t0001g0223a0001c0001t0001g0227a0001c0001t0001g0238others(1): Show | 4 | HG02145.hp1 HG03579.hp1 NA18973.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-13099_82-13084d others(18): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526595 | |||||
| chrX:108526595
|
CCTTTCTT others(17): Show |
C | 1 | a0001c0001t0001g0250 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.82-13107_82-13084d others(26): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526595 | |||||
| chrX:108526597
|
T | C | 10 | a0001c0001t0001g0058a0001c0001t0001g0064a0001c0001t0001g0120others(7): Show | 10 | HG00099.hp2 HG00733.hp2 HG01081.hp1 others(7): Show |
intron_variant | MODIFIER | c.82-13149T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526597 | ||||||
| chrX:108526601
|
T | C | 2 | a0001c0001t0001g0122a0001c0001t0001g0166 | 2 | HG02723.hp1 HG03491.hp2 |
intron_variant | MODIFIER | c.82-13145T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526601 | ||||||
| chrX:108526605
|
T | C | 4 | a0001c0001t0001g0061a0001c0001t0001g0131a0001c0001t0001g0147others(1): Show | 4 | HG02976.hp2 HG03453.hp2 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-13141T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526605 | ||||||
| chrX:108526607
|
T | C | 2 | a0001c0003t0001g0216a0001c0003t0001g0217 | 2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.82-13139T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526607 | ||||||
| chrX:108526611
|
T | C | 2 | a0001c0003t0001g0216a0001c0003t0001g0217 | 2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.82-13135T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526611 | ||||||
| chrX:108526636
|
CT | C | 3 | a0001c0001t0001g0121a0001c0001t0001g0248a0001c0001t0001g0249 | 3 | HG01109.hp1 HG02970.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.82-13107delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526636 | |||||
| chrX:108526636
|
CTTTCTTT others(6): Show |
C | 1 | a0001c0001t0001g0051 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.82-13107_82-13095d others(15): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526636 | |||||
| chrX:108526640
|
CTTTCTTT others(2): Show |
C | 1 | a0001c0001t0006g0205 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.82-13103_82-13095d others(11): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526640 | |||||
| chrX:108526644
|
CT | C | 3 | a0001c0001t0001g0163a0001c0001t0001g0184a0001c0003t0001g0219 | 3 | HG00140.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.82-13099delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526644 | |||||
| chrX:108526644
|
CTT | C | 2 | a0002c0002t0001g0024a0002c0002t0001g0027 | 2 | NA18941.hp1 NA18998.hp2 |
intron_variant | MODIFIER | c.82-13100_82-13099d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526644 | |||||
| chrX:108526644
|
CTTTCT | C | 2 | a0001c0001t0001g0093a0004c0006t0001g0246 | 2 | HG02129.hp1 NA19003.hp1 |
intron_variant | MODIFIER | c.82-13099_82-13095d others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526644 | |||||
| chrX:108526648
|
CT | C | 5 | a0001c0001t0001g0096a0001c0001t0001g0139a0001c0001t0001g0193others(2): Show | 5 | HG00642.hp1 HG00733.hp1 HG01123.hp2 others(2): Show |
intron_variant | MODIFIER | c.82-13095delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526648 | |||||
| chrX:108526648
|
CTT | C | 1 | a0002c0002t0001g0069 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.82-13096_82-13095d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526648 | |||||
| chrX:108526648
|
CTTTCTTT others(2): Show |
C | 1 | a0004c0006t0001g0244 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.82-13095_82-13087d others(11): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526648 | |||||
| chrX:108526648
|
CTTTCTTT others(20): Show |
C | 2 | a0001c0001t0001g0248a0002c0002t0001g0068 | 2 | HG02970.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.82-13096_82-13070d others(29): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526648 | |||||
| chrX:108526648
|
CTTTCTTT others(24): Show |
C | 2 | a0001c0001t0001g0121a0001c0001t0001g0249 | 2 | HG01109.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.82-13096_82-13066d others(33): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526648 | |||||
| chrX:108526648
|
CTTTCTTT others(36): Show |
C | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-13096_82-13054d others(45): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526648 | |||||
| chrX:108526649
|
T | TTTC | 3 | a0001c0001t0001g0057a0001c0001t0001g0097a0001c0001t0001g0140 | 3 | HG02135.hp1 NA18962.hp1 NA18973.hp2 |
intron_variant | MODIFIER | c.82-13094_82-13092d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526649 | |||||
| chrX:108526650
|
T | TC | 1 | a0001c0001t0001g0076 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.82-13096_82-13095i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526650 | ||||||
| chrX:108526652
|
C | T | 1 | a0001c0001t0001g0076 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.82-13094C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526652 | ||||||
| chrX:108526652
|
CT | C | 2 | a0001c0001t0001g0056a0001c0001t0001g0123 | 2 | HG02071.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.82-13091delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526652 | |||||
| chrX:108526652
|
CTTTCTTT others(15): Show |
C | 5 | a0001c0001t0001g0242a0001c0003t0001g0063a0001c0003t0001g0211others(2): Show | 5 | HG01106.hp1 HG01884.hp2 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.82-13091_82-13070d others(24): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526652 | |||||
| chrX:108526652
|
CTTTCTTT others(19): Show |
C | 1 | a0001c0001t0008g0181 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.82-13091_82-13066d others(28): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526652 | |||||
| chrX:108526653
|
T | C | 1 | a0001c0001t0001g0076 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.82-13093T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526653 | ||||||
| chrX:108526653
|
TTTCTTTC others(11): Show |
T | 3 | a0001c0001t0001g0186a0001c0001t0005g0185a0001c0001t0010g0198 | 3 | HG00099.hp2 HG01074.hp1 HG01433.hp1 |
intron_variant | MODIFIER | c.82-13091_82-13074d others(20): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526653 | |||||
| chrX:108526656
|
CT | C | 1 | a0001c0001t0001g0168 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.82-13087delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526656 | |||||
| chrX:108526656
|
CTTTCTTC others(11): Show |
C | 1 | a0001c0003t0001g0062 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.82-13087_82-13070d others(20): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526656 | |||||
| chrX:108526656
|
CTTTCTTC others(15): Show |
C | 3 | a0001c0001t0009g0210a0001c0003t0001g0214a0001c0003t0001g0215 | 3 | HG02965.hp1 HG03927.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.82-13087_82-13066d others(24): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526656 | |||||
| chrX:108526656
|
CTTTCTTC others(16): Show |
C | 3 | a0001c0001t0001g0163a0002c0002t0001g0038a0002c0002t0001g0065 | 3 | HG02109.hp1 HG02818.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.82-13088_82-13066d others(25): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526656 | |||||
| chrX:108526656
|
CTTTCTTC others(20): Show |
C | 1 | a0001c0001t0001g0184 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.82-13088_82-13062d others(29): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526656 | |||||
| chrX:108526656
|
CTTTCTTC others(24): Show |
C | 2 | a0001c0003t0001g0219a0002c0002t0001g0066 | 2 | HG02258.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.82-13088_82-13058d others(33): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526656 | |||||
| chrX:108526657
|
T | TTTCTTTC others(3): Show |
1 | a0001c0001t0001g0141 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.82-13084_82-13083i others(12): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526657 | |||||
| chrX:108526657
|
TTTC | T | 29 | a0001c0001t0001g0052a0001c0001t0001g0056a0001c0001t0001g0058others(26): Show | 29 | HG00733.hp2 HG01978.hp2 HG02071.hp1 others(26): Show |
intron_variant | MODIFIER | c.82-13083_82-13081d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526657 | |||||
| chrX:108526657
|
TTTCTTCT others(7): Show |
T | 3 | a0001c0001t0001g0064a0001c0001t0001g0202a0001c0001t0001g0206 | 3 | HG01243.hp1 HG02486.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.82-13087_82-13074d others(16): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526657 | |||||
| chrX:108526658
|
T | C | 2 | a0002c0002t0001g0012a0002c0002t0001g0014 | 2 | NA18949.hp1 NA18951.hp1 |
intron_variant | MODIFIER | c.82-13088T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526658 | ||||||
| chrX:108526659
|
T | C | 11 | a0001c0001t0001g0080a0001c0001t0001g0106a0001c0001t0001g0107others(8): Show | 11 | HG00621.hp1 HG01069.hp1 HG01071.hp2 others(8): Show |
intron_variant | MODIFIER | c.82-13087T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526659 | ||||||
| chrX:108526659
|
TC | T | 1 | a0002c0002t0001g0012 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.82-13086delC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526659 | ||||||
| chrX:108526660
|
C | CT | 14 | a0001c0001t0001g0050a0001c0001t0001g0082a0001c0001t0001g0086others(11): Show | 14 | HG00280.hp1 HG00438.hp1 HG00738.hp1 others(11): Show |
intron_variant | MODIFIER | c.82-13084dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526660 | |||||
| chrX:108526660
|
C | CTTCT | 1 | a0001c0001t0001g0087 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.82-13077_82-13074d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526660 | |||||
| chrX:108526660
|
C | CTTTCT | 4 | a0001c0001t0001g0049a0001c0001t0001g0232a0001c0012t0001g0077others(1): Show | 4 | HG01099.hp1 HG04184.hp1 NA18947.hp2 others(1): Show |
intron_variant | MODIFIER | c.82-13084_82-13083i others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526660 | |||||
| chrX:108526660
|
C | T | 12 | a0001c0001t0001g0080a0001c0001t0001g0106a0001c0001t0001g0107others(9): Show | 12 | HG00621.hp1 HG01069.hp1 HG01071.hp2 others(9): Show |
intron_variant | MODIFIER | c.82-13086C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526660 | ||||||
| chrX:108526660
|
CT | C | 13 | a0001c0001t0001g0051a0001c0001t0001g0057a0001c0001t0001g0076others(10): Show | 13 | HG01975.hp2 HG02135.hp1 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.82-13084delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526660 | |||||
| chrX:108526660
|
CTTCTT | C | 11 | a0001c0001t0001g0093a0001c0001t0001g0096a0002c0002t0001g0015others(8): Show | 11 | HG00642.hp1 HG02129.hp1 HG02165.hp2 others(8): Show |
intron_variant | MODIFIER | c.82-13084_82-13080d others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526660 | |||||
| chrX:108526660
|
CTTCTTTC others(8): Show |
C | 2 | a0002c0002t0001g0036a0002c0002t0001g0040 | 2 | HG02723.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.82-13084_82-13070d others(17): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526660 | |||||
| chrX:108526660
|
CTTCTTTC others(16): Show |
C | 3 | a0001c0001t0001g0139a0001c0001t0001g0193a0001c0001t0001g0208 | 3 | HG00733.hp1 HG01123.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.82-13084_82-13062d others(25): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526660 | |||||
| chrX:108526661
|
T | C | 1 | a0002c0002t0001g0014 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.82-13085T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526661 | ||||||
| chrX:108526661
|
T | TTTCTTTC others(4): Show |
1 | a0001c0001t0001g0083 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.82-13084_82-13083i others(13): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526661 | |||||
| chrX:108526662
|
TCTTTCTT others(2): Show |
T | 3 | a0002c0002t0001g0024a0002c0002t0001g0027a0002c0002t0001g0069 | 3 | HG02622.hp2 NA18941.hp1 NA18998.hp2 |
intron_variant | MODIFIER | c.82-13083_82-13075d others(11): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526662 | ||||||
| chrX:108526662
|
TCTTTCTT others(4): Show |
T | 1 | a0002c0002t0001g0037 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.82-13083_82-13073d others(13): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526662 | ||||||
| chrX:108526663
|
C | T | 9 | a0001c0001t0001g0045a0001c0001t0001g0083a0001c0001t0001g0101others(6): Show | 9 | HG01081.hp2 HG01981.hp2 HG02074.hp1 others(6): Show |
intron_variant | MODIFIER | c.82-13083C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526663 | ||||||
| chrX:108526664
|
T | C | 8 | a0001c0001t0001g0045a0001c0001t0001g0101a0001c0001t0001g0108others(5): Show | 8 | HG01081.hp2 HG01981.hp2 HG02074.hp1 others(5): Show |
intron_variant | MODIFIER | c.82-13082T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526664 | ||||||
| chrX:108526664
|
T | TC | 1 | a0001c0001t0001g0055 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.82-13082_82-13081i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526664 | ||||||
| chrX:108526664
|
T | TTTC | 6 | a0001c0001t0001g0082a0001c0001t0001g0086a0001c0001t0001g0154others(3): Show | 6 | HG00280.hp1 HG00738.hp1 HG03942.hp1 others(3): Show |
intron_variant | MODIFIER | c.82-13079_82-13077d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526664 | |||||
| chrX:108526664
|
TTTCTTTC | T | 1 | a0001c0001t0001g0199 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.82-13080_82-13074d others(9): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526664 | |||||
| chrX:108526665
|
T | TTC | 3 | a0001c0001t0001g0107a0001c0001t0001g0135a0001c0001t0001g0179 | 3 | HG01071.hp2 NA18993.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.82-13079_82-13078d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526665 | |||||
| chrX:108526667
|
CTTTCTCT others(5): Show |
C | 1 | a0004c0006t0001g0244 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.82-13077_82-13066d others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526667 | |||||
| chrX:108526668
|
TTTC | T | 6 | a0001c0001t0001g0058a0001c0001t0001g0183a0001c0001t0001g0194others(3): Show | 6 | HG00733.hp2 NA18943.hp1 NA18944.hp1 others(3): Show |
intron_variant | MODIFIER | c.82-13076_82-13074d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526668 | |||||
| chrX:108526669
|
T | C | 16 | a0001c0001t0001g0056a0001c0001t0001g0080a0001c0001t0001g0106others(13): Show | 16 | HG00621.hp1 HG01069.hp1 HG01123.hp1 others(13): Show |
intron_variant | MODIFIER | c.82-13077T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526669 | ||||||
| chrX:108526669
|
T | TC | 3 | a0001c0001t0001g0180a0001c0001t0001g0209a0006c0017t0001g0102 | 3 | HG04115.hp1 NA19075.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.82-13077_82-13076i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526669 | ||||||
| chrX:108526669
|
TTC | T | 31 | a0001c0001t0001g0045a0001c0001t0001g0051a0001c0001t0001g0057others(28): Show | 31 | HG00642.hp1 HG01975.hp2 HG01981.hp2 others(28): Show |
intron_variant | MODIFIER | c.82-13073_82-13072d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526669 | |||||
| chrX:108526671
|
C | CT | 2 | a0001c0001t0001g0050a0001c0001t0001g0234 | 2 | NA18965.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.82-13074dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526671 | |||||
| chrX:108526671
|
C | CTCTT | 16 | a0001c0001t0001g0055a0001c0001t0001g0089a0001c0001t0001g0091others(13): Show | 16 | HG00408.hp2 HG00438.hp2 HG01169.hp1 others(13): Show |
intron_variant | MODIFIER | c.82-13022_82-13019d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526671 | |||||
| chrX:108526671
|
C | CTCTTTCT others(1): Show |
3 | a0001c0001t0001g0142a0001c0001t0001g0264a0010c0016t0001g0175 | 3 | HG04184.hp2 NA18940.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.82-13026_82-13019d others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526671 | |||||
| chrX:108526671
|
C | CTT | 3 | a0001c0001t0001g0107a0001c0001t0001g0135a0001c0001t0001g0179 | 3 | HG01071.hp2 NA18993.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.82-13074_82-13073i others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526671 | |||||
| chrX:108526671
|
C | CTTCTT | 2 | a0001c0001t0001g0049a0009c0015t0001g0103 | 2 | HG04184.hp1 NA18966.hp1 |
intron_variant | MODIFIER | c.82-13074_82-13073i others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526671 | |||||
| chrX:108526671
|
C | T | 19 | a0001c0001t0001g0056a0001c0001t0001g0080a0001c0001t0001g0106others(16): Show | 19 | HG00621.hp1 HG01069.hp1 HG01123.hp1 others(16): Show |
intron_variant | MODIFIER | c.82-13075C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526671 | ||||||
| chrX:108526671
|
CTCTT | C | 44 | a0001c0001t0001g0048a0001c0001t0001g0052a0001c0001t0001g0060others(41): Show | 44 | HG00099.hp1 HG00423.hp2 HG00558.hp1 others(41): Show |
intron_variant | MODIFIER | c.82-13022_82-13019d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526671 | |||||
| chrX:108526671
|
CTCTTTCT others(1): Show |
C | 20 | a0001c0001t0001g0047a0001c0001t0001g0061a0001c0001t0001g0074others(17): Show | 20 | HG01071.hp1 HG01358.hp1 HG01515.hp1 others(17): Show |
intron_variant | MODIFIER | c.82-13026_82-13019d others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526671 | |||||
| chrX:108526671
|
CTCTTTCT others(5): Show |
C | 5 | a0001c0001t0001g0200a0001c0001t0001g0203a0001c0001t0001g0235others(2): Show | 5 | HG00735.hp1 HG02109.hp2 HG02698.hp1 others(2): Show |
intron_variant | MODIFIER | c.82-13030_82-13019d others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526671 | |||||
| chrX:108526671
|
CTCTTTCT others(9): Show |
C | 2 | a0001c0001t0001g0001a0001c0001t0001g0189 | 2 | HG00423.hp1 HG02056.hp1 |
intron_variant | MODIFIER | c.82-13034_82-13019d others(18): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526671 | |||||
| chrX:108526671
|
CTCTTTCT others(13): Show |
C | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-13038_82-13019d others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526671 | |||||
| chrX:108526673
|
C | T | 11 | a0001c0001t0001g0082a0001c0001t0001g0086a0001c0001t0001g0101others(8): Show | 11 | HG00280.hp1 HG00738.hp1 HG01081.hp2 others(8): Show |
intron_variant | MODIFIER | c.82-13073C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526673 | ||||||
| chrX:108526675
|
T | C | 12 | a0001c0001t0001g0082a0001c0001t0001g0086a0001c0001t0001g0101others(9): Show | 12 | HG00280.hp1 HG00738.hp1 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.82-13071T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526675 | ||||||
| chrX:108526675
|
T | TTC | 2 | a0001c0001t0001g0049a0009c0015t0001g0103 | 2 | HG04184.hp1 NA18966.hp1 |
intron_variant | MODIFIER | c.82-13069_82-13068d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526675 | |||||
| chrX:108526677
|
CTT | C | 5 | a0001c0001t0001g0045a0001c0001t0001g0167a0001c0001t0001g0180others(2): Show | 5 | HG01981.hp2 HG02074.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.82-13067_82-13066d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526677 | |||||
| chrX:108526678
|
T | TCTTC | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-13068_82-13067i others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526678 | ||||||
| chrX:108526679
|
T | TTC | 1 | a0001c0001t0001g0050 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.82-13065_82-13064d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526679 | |||||
| chrX:108526681
|
CTT | C | 13 | a0001c0001t0001g0058a0001c0001t0001g0064a0001c0001t0001g0183others(10): Show | 13 | HG00099.hp2 HG00733.hp2 HG01074.hp1 others(10): Show |
intron_variant | MODIFIER | c.82-13063_82-13062d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526681 | |||||
| chrX:108526685
|
CTT | C | 6 | a0001c0001t0001g0242a0001c0003t0001g0062a0001c0003t0001g0063others(3): Show | 6 | HG01106.hp1 HG01884.hp2 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.82-13059_82-13058d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526685 | |||||
| chrX:108526689
|
CTT | C | 4 | a0001c0001t0008g0181a0001c0001t0009g0210a0001c0003t0001g0214others(1): Show | 4 | HG02683.hp2 HG02965.hp1 HG03927.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-13055_82-13054d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526689 | |||||
| chrX:108526721
|
CT | C | 1 | a0001c0001t0001g0225 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.82-13022delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526721 | |||||
| chrX:108526723
|
TTC | T | 1 | a0001c0001t0001g0155 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.82-13021_82-13020d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526723 | |||||
| chrX:108526725
|
CT | C | 1 | a0001c0001t0001g0182 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.82-13019delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526725 | |||||
| chrX:108526726
|
T | C | 1 | a0001c0001t0001g0155 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.82-13020T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526726 | ||||||
| chrX:108526728
|
C | CT | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-13018_82-13017i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526728 | ||||||
| chrX:108526729
|
C | T | 4 | a0001c0001t0001g0134a0001c0001t0001g0164a0001c0001t0001g0176others(1): Show | 4 | HG00735.hp2 HG01123.hp1 HG01981.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-13017C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526729 | ||||||
| chrX:108526817
|
GAGTGCAG others(6): Show |
G | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-12927_82-12915d others(15): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526817 | |||||
| chrX:108526821
|
G | T | 14 | a0001c0001t0001g0123a0001c0001t0001g0129a0001c0001t0001g0134others(11): Show | 14 | HG00558.hp1 HG00735.hp2 HG01123.hp1 others(11): Show |
intron_variant | MODIFIER | c.82-12925G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526821 | ||||||
| chrX:108527018
|
C | T | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.82-12728C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108527018 | ||||||
| chrX:108527093
|
G | A | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.82-12653G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108527093 | ||||||
| chrX:108527203
|
G | T | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-12543G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108527203 | ||||||
| chrX:108527206
|
T | C | 3 | a0001c0001t0001g0248a0001c0001t0001g0249a0001c0001t0001g0250 | 3 | HG02559.hp2 HG02970.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.82-12540T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108527206 | ||||||
| chrX:108527221
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-12525T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108527221 | ||||||
| chrX:108527453
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-12293A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108527453 | ||||||
| chrX:108527698
|
C | T | 224 | a0001c0001t0001g0001a0001c0001t0001g0045a0001c0001t0001g0046others(221): Show | 224 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(221): Show |
intron_variant | MODIFIER | c.82-12048C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108527698 | ||||||
| chrX:108527733
|
T | C | 1 | a0001c0001t0001g0177 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.82-12013T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108527733 | ||||||
| chrX:108527808
|
G | A | 1 | a0001c0001t0001g0133 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.82-11938G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108527808 | ||||||
| chrX:108527928
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-11818A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108527928 | ||||||
| chrX:108528793
|
A | AG | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-10952dupG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108528793 | |||||
| chrX:108528870
|
A | AGAC | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-10876_82-10875i others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108528870 | ||||||
| chrX:108528871
|
C | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-10875C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108528871 | ||||||
| chrX:108528896
|
T | TA | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-10847dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108528896 | |||||
| chrX:108529176
|
G | GA | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-10563dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108529176 | |||||
| chrX:108529237
|
A | AAG | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-10508_82-10507i others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108529237 | |||||
| chrX:108529271
|
A | AG | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-10472dupG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108529271 | |||||
| chrX:108529295
|
A | AC | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-10448dupC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108529295 | |||||
| chrX:108529335
|
C | CA | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-10407dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108529335 | |||||
| chrX:108529336
|
A | G | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.82-10410A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108529336 | ||||||
| chrX:108529428
|
C | CG | 2 | a0001c0001t0001g0167a0006c0017t0001g0102 | 2 | HG03516.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.82-10316dupG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108529428 | |||||
| chrX:108529435
|
A | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-10311A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108529435 | ||||||
| chrX:108529622
|
T | A | 2 | a0001c0001t0001g0124a0001c0001t0001g0169 | 2 | HG02630.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.82-10124T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108529622 | ||||||
| chrX:108529622
|
TA | T | 2 | a0001c0001t0001g0083a0001c0001t0001g0130 | 2 | NA19081.hp2 NA19082.hp1 |
intron_variant | MODIFIER | c.82-10117delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108529622 | |||||
| chrX:108529797
|
TA | T | 1 | a0001c0001t0001g0130 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.82-9939delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108529797 | |||||
| chrX:108529846
|
C | G | 1 | a0001c0001t0001g0187 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.82-9900C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108529846 | ||||||
| chrX:108529847
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-9899C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108529847 | ||||||
| chrX:108530081
|
A | T | 1 | a0001c0001t0001g0124 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.82-9665A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108530081 | ||||||
| chrX:108530252
|
T | C | 2 | a0001c0001t0001g0187a0001c0001t0001g0235 | 2 | HG00735.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.82-9494T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108530252 | ||||||
| chrX:108530509
|
G | GA | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-9230dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108530509 | |||||
| chrX:108530540
|
G | A | 1 | a0002c0002t0001g0033 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.82-9206G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108530540 | ||||||
| chrX:108530541
|
C | T | 1 | a0001c0001t0001g0178 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.82-9205C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108530541 | ||||||
| chrX:108530761
|
C | T | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.82-8985C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108530761 | ||||||
| chrX:108530843
|
A | G | 1 | a0001c0001t0001g0231 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.82-8903A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108530843 | ||||||
| chrX:108530875
|
C | T | 2 | a0004c0006t0001g0244a0004c0006t0001g0245 | 2 | NA18988.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.82-8871C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108530875 | ||||||
| chrX:108530922
|
T | C | 3 | a0001c0001t0001g0125a0001c0001t0008g0181a0001c0001t0009g0210 | 3 | HG02683.hp2 HG03927.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.82-8824T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108530922 | ||||||
| chrX:108530923
|
G | A | 2 | a0001c0001t0008g0181a0001c0001t0009g0210 | 2 | HG02683.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.82-8823G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108530923 | ||||||
| chrX:108530979
|
A | G | 3 | a0001c0001t0001g0044a0001c0001t0001g0083a0001c0001t0001g0094 | 3 | HG01978.hp1 NA19009.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.82-8767A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108530979 | ||||||
| chrX:108531009
|
C | T | 1 | a0001c0001t0001g0120 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.82-8737C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108531009 | ||||||
| chrX:108531214
|
T | TG | 3 | a0001c0001t0001g0045a0001c0001t0001g0197a0002c0002t0001g0022 | 3 | HG02074.hp1 HG02083.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.82-8526dupG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108531214 | |||||
| chrX:108531220
|
G | GGA | 2 | a0001c0001t0001g0105a0001c0001t0001g0231 | 2 | NA19000.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.82-8526_82-8525ins others(2): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108531220 | ||||||
| chrX:108531221
|
A | AG | 4 | a0001c0001t0001g0146a0001c0001t0009g0210a0001c0012t0001g0077others(1): Show | 4 | HG02738.hp1 HG03927.hp1 NA18947.hp2 others(1): Show |
intron_variant | MODIFIER | c.82-8519dupG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108531221 | |||||
| chrX:108531221
|
A | G | 2 | a0001c0001t0001g0105a0001c0001t0001g0231 | 2 | NA19000.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.82-8525A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108531221 | ||||||
| chrX:108531250
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-8496C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108531250 | ||||||
| chrX:108531340
|
C | T | 1 | a0001c0001t0001g0157 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.82-8406C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108531340 | ||||||
| chrX:108531370
|
T | TAAATAAA others(4): Show |
258 | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0044others(255): Show | 258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.82-8368_82-8358dup others(11): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108531370 | |||||
| chrX:108531385
|
T | TAAATAA | 1 | a0001c0001t0001g0209 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.82-8358_82-8357ins others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108531385 | |||||
| chrX:108531385
|
TA | T | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-8357delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108531385 | |||||
| chrX:108531386
|
A | AAATAAAA others(3): Show |
4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-8358_82-8357ins others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108531386 | |||||
| chrX:108531390
|
T | TA | 1 | a0001c0001t0001g0209 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.82-8353dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108531390 | |||||
| chrX:108531520
|
A | G | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-8226A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108531520 | ||||||
| chrX:108531584
|
A | G | 4 | a0001c0001t0001g0202a0001c0001t0001g0203a0001c0001t0001g0242others(1): Show | 4 | HG02109.hp2 HG02486.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-8162A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108531584 | ||||||
| chrX:108531727
|
C | CA | 1 | a0001c0001t0001g0226 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.82-8016dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108531727 | |||||
| chrX:108532039
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-7707A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108532039 | ||||||
| chrX:108532092
|
A | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-7654A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108532092 | ||||||
| chrX:108532427
|
C | T | 1 | a0001c0001t0001g0251 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.82-7319C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108532427 | ||||||
| chrX:108532528
|
A | T | 1 | a0001c0001t0001g0101 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.82-7218A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108532528 | ||||||
| chrX:108532767
|
A | C | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.82-6979A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108532767 | ||||||
| chrX:108532770
|
G | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-6976G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108532770 | ||||||
| chrX:108532897
|
C | T | 1 | a0001c0001t0001g0086 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.82-6849C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108532897 | ||||||
| chrX:108532955
|
G | A | 1 | a0001c0001t0001g0087 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.82-6791G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108532955 | ||||||
| chrX:108532991
|
G | A | 2 | a0001c0001t0001g0225a0001c0001t0001g0226 | 2 | NA18983.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.82-6755G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108532991 | ||||||
| chrX:108533079
|
A | T | 7 | a0001c0001t0001g0058a0001c0001t0001g0197a0001c0001t0001g0199others(4): Show | 7 | HG00099.hp2 HG00733.hp2 HG03490.hp1 others(4): Show |
intron_variant | MODIFIER | c.82-6667A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108533079 | ||||||
| chrX:108533147
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-6599T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108533147 | ||||||
| chrX:108533177
|
T | C | 2 | a0002c0002t0001g0068a0002c0002t0001g0069 | 2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.82-6569T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108533177 | ||||||
| chrX:108533194
|
G | A | 1 | a0001c0003t0007g0220 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.82-6552G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108533194 | ||||||
| chrX:108533422
|
G | T | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-6324G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108533422 | ||||||
| chrX:108533438
|
T | A | 1 | a0001c0001t0001g0074 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.82-6308T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108533438 | ||||||
| chrX:108533761
|
G | A | 1 | a0001c0001t0001g0124 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.82-5985G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108533761 | ||||||
| chrX:108533795
|
C | G | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-5951C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108533795 | ||||||
| chrX:108533818
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-5928A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108533818 | ||||||
| chrX:108534058
|
A | T | 18 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(15): Show | 18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.82-5688A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108534058 | ||||||
| chrX:108534233
|
A | G | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.82-5513A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108534233 | ||||||
| chrX:108534250
|
TAAAG | T | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-5492_82-5489del others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108534250 | |||||
| chrX:108534707
|
C | T | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-5039C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108534707 | ||||||
| chrX:108534826
|
A | G | 1 | a0001c0003t0007g0220 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.82-4920A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108534826 | ||||||
| chrX:108534839
|
C | A | 2 | a0001c0001t0001g0154a0001c0001t0001g0157 | 2 | HG02015.hp1 NA19084.hp2 |
intron_variant | MODIFIER | c.82-4907C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108534839 | ||||||
| chrX:108534870
|
G | C | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-4876G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108534870 | ||||||
| chrX:108534907
|
A | G | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.82-4839A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108534907 | ||||||
| chrX:108534918
|
C | T | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-4828C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108534918 | ||||||
| chrX:108534949
|
T | C | 1 | a0001c0001t0001g0167 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.82-4797T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108534949 | ||||||
| chrX:108535443
|
G | A | 2 | a0001c0001t0001g0144a0001c0001t0001g0148 | 2 | HG01934.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.82-4303G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108535443 | ||||||
| chrX:108535490
|
TAGA | T | 1 | a0001c0001t0001g0196 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.82-4253_82-4251del others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108535490 | |||||
| chrX:108535500
|
A | G | 1 | a0001c0001t0001g0051 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.82-4246A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108535500 | ||||||
| chrX:108535733
|
G | A | 1 | a0001c0001t0001g0156 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.82-4013G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108535733 | ||||||
| chrX:108535852
|
A | AT | 1 | a0003c0005t0014g0110 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.82-3884dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108535852 | |||||
| chrX:108536041
|
C | T | 1 | a0001c0001t0001g0194 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.82-3705C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108536041 | ||||||
| chrX:108536234
|
G | A | 1 | a0001c0001t0001g0155 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.82-3512G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108536234 | ||||||
| chrX:108536259
|
TTGTG | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-3468_82-3465del others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108536259 | |||||
| chrX:108536281
|
G | A | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-3465G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108536281 | ||||||
| chrX:108536577
|
G | A | 182 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(179): Show | 182 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(179): Show |
intron_variant | MODIFIER | c.82-3169G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108536577 | ||||||
| chrX:108536705
|
G | GT | 1 | a0001c0001t0001g0044 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.82-3036dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108536705 | |||||
| chrX:108537382
|
C | G | 2 | a0001c0001t0001g0060a0001c0001t0004g0059 | 2 | HG02897.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.82-2364C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108537382 | ||||||
| chrX:108537702
|
C | G | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-2044C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108537702 | ||||||
| chrX:108537833
|
A | G | 2 | a0001c0003t0001g0211a0001c0003t0001g0212 | 2 | HG01106.hp1 HG01884.hp2 |
intron_variant | MODIFIER | c.82-1913A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108537833 | ||||||
| chrX:108537916
|
A | G | 1 | a0001c0001t0001g0167 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.82-1830A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108537916 | ||||||
| chrX:108538219
|
G | A | 1 | a0001c0003t0001g0219 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.82-1527G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108538219 | ||||||
| chrX:108538289
|
G | A | 7 | a0001c0001t0001g0051a0001c0001t0001g0074a0001c0001t0001g0124others(4): Show | 7 | HG02257.hp1 HG02451.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.82-1457G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108538289 | ||||||
| chrX:108538467
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-1279A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108538467 | ||||||
| chrX:108539183
|
G | GA | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-556dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108539183 | |||||
| chrX:108539417
|
T | C | 1 | a0001c0001t0001g0104 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.82-329T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108539417 | ||||||
| chrX:108539534
|
C | T | 18 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(15): Show | 18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.82-212C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108539534 | ||||||
| chrX:108539536
|
C | G | 1 | a0001c0001t0001g0128 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.82-210C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108539536 | ||||||
| chrX:108540062
|
A | G | 7 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(4): Show | 7 | HG01106.hp1 HG01884.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.141+257A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108540062 | ||||||
| chrX:108540094
|
T | C | 1 | a0001c0001t0001g0203 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.141+289T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108540094 | ||||||
| chrX:108540205
|
C | G | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.141+400C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108540205 | ||||||
| chrX:108540442
|
A | C | 4 | a0001c0003t0001g0216a0001c0003t0001g0217a0001c0003t0001g0218others(1): Show | 4 | HG02145.hp1 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.141+637A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108540442 | ||||||
| chrX:108540591
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+786T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108540591 | ||||||
| chrX:108540888
|
T | C | 1 | a0001c0001t0001g0101 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.141+1083T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108540888 | ||||||
| chrX:108541058
|
G | A | 1 | a0007c0013t0001g0126 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.141+1253G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108541058 | ||||||
| chrX:108541248
|
C | A | 1 | a0001c0001t0001g0238 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.141+1443C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108541248 | ||||||
| chrX:108541534
|
C | T | 1 | a0001c0001t0001g0173 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.141+1729C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108541534 | ||||||
| chrX:108541668
|
T | C | 1 | a0001c0001t0001g0082 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.141+1863T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108541668 | ||||||
| chrX:108541706
|
T | A | 1 | a0001c0001t0001g0117 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+1901T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108541706 | ||||||
| chrX:108542109
|
A | AT | 2 | a0002c0002t0001g0013a0002c0002t0001g0025 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.141+2313dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chrX | 108542109 | |||||
| chrX:108542133
|
A | C | 2 | a0002c0002t0001g0003a0002c0002t0001g0026 | 2 | NA19085.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.141+2328A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542133 | ||||||
| chrX:108542253
|
C | A | 1 | a0001c0001t0001g0098 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.141+2448C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542253 | ||||||
| chrX:108542456
|
C | CAT | 1 | a0001c0001t0001g0129 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.141+2653_141+2654d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chrX | 108542456 | |||||
| chrX:108542474
|
G | A | 1 | a0001c0001t0001g0233 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.141+2669G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542474 | ||||||
| chrX:108542533
|
G | C | 1 | a0003c0005t0001g0114 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.141+2728G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542533 | ||||||
| chrX:108542663
|
T | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+2858T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542663 | ||||||
| chrX:108542668
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+2863T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542668 | ||||||
| chrX:108542685
|
A | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+2880A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542685 | ||||||
| chrX:108542693
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+2888G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542693 | ||||||
| chrX:108542721
|
A | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+2916A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542721 | ||||||
| chrX:108542769
|
G | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+2964G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542769 | ||||||
| chrX:108542793
|
C | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+2988C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542793 | ||||||
| chrX:108542793
|
C | T | 1 | a0001c0001t0001g0094 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.141+2988C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542793 | ||||||
| chrX:108542806
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+3001G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542806 | ||||||
| chrX:108542823
|
C | T | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.141+3018C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542823 | ||||||
| chrX:108542825
|
T | C | 3 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0192 | 3 | HG00280.hp1 HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.141+3020T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542825 | ||||||
| chrX:108542859
|
T | A | 3 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0192 | 3 | HG00280.hp1 HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.141+3054T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542859 | ||||||
| chrX:108542886
|
T | G | 1 | a0001c0003t0001g0218 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.141+3081T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542886 | ||||||
| chrX:108542928
|
A | G | 1 | a0001c0001t0001g0251 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.141+3123A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542928 | ||||||
| chrX:108542976
|
A | T | 106 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(103): Show | 106 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(103): Show |
intron_variant | MODIFIER | c.141+3171A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542976 | ||||||
| chrX:108543070
|
T | C | 1 | a0002c0002t0001g0041 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.141+3265T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543070 | ||||||
| chrX:108543104
|
T | G | 1 | a0002c0002t0001g0011 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.141+3299T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543104 | ||||||
| chrX:108543135
|
G | T | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.141+3330G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543135 | ||||||
| chrX:108543145
|
C | T | 1 | a0002c0002t0001g0041 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.141+3340C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543145 | ||||||
| chrX:108543284
|
A | G | 1 | a0001c0001t0001g0188 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.141+3479A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543284 | ||||||
| chrX:108543311
|
C | T | 1 | a0005c0007t0001g0260 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.141+3506C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543311 | ||||||
| chrX:108543429
|
A | G | 1 | a0001c0001t0001g0231 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.141+3624A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543429 | ||||||
| chrX:108543495
|
G | C | 6 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0158others(3): Show | 6 | HG01192.hp1 HG01515.hp1 HG01517.hp2 others(3): Show |
intron_variant | MODIFIER | c.141+3690G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543495 | ||||||
| chrX:108543539
|
T | C | 266 | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0044others(263): Show | 266 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show |
intron_variant | MODIFIER | c.141+3734T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543539 | ||||||
| chrX:108543540
|
A | G | 2 | a0001c0001t0001g0046a0001c0001t0001g0052 | 2 | NA19055.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.141+3735A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543540 | ||||||
| chrX:108543740
|
G | A | 2 | a0001c0001t0001g0225a0001c0001t0001g0226 | 2 | NA18983.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.141+3935G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543740 | ||||||
| chrX:108543765
|
G | A | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.141+3960G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543765 | ||||||
| chrX:108544029
|
A | C | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.141+4224A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544029 | ||||||
| chrX:108544147
|
T | C | 1 | a0001c0001t0001g0148 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.141+4342T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544147 | ||||||
| chrX:108544322
|
C | T | 1 | a0001c0001t0001g0247 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.141+4517C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544322 | ||||||
| chrX:108544445
|
C | T | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.141+4640C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544445 | ||||||
| chrX:108544456
|
AGCC | A | 1 | a0002c0002t0001g0023 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.141+4652_141+4654d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544456 | ||||||
| chrX:108544464
|
T | A | 1 | a0002c0002t0001g0023 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.141+4659T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544464 | ||||||
| chrX:108544470
|
T | C | 1 | a0002c0002t0001g0023 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.141+4665T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544470 | ||||||
| chrX:108544471
|
G | GTGT | 1 | a0002c0002t0001g0023 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.141+4666_141+4667i others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544471 | ||||||
| chrX:108544472
|
G | T | 1 | a0002c0002t0001g0023 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.141+4667G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544472 | ||||||
| chrX:108544497
|
T | C | 1 | a0001c0001t0001g0182 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.141+4692T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544497 | ||||||
| chrX:108544504
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+4699A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544504 | ||||||
| chrX:108544577
|
GT | G | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.141+4774delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chrX | 108544577 | |||||
| chrX:108544645
|
C | CT | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.141+4850dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chrX | 108544645 | |||||
| chrX:108544686
|
A | G | 1 | a0001c0001t0001g0134 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.141+4881A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544686 | ||||||
| chrX:108544861
|
T | C | 1 | a0002c0002t0001g0036 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.141+5056T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544861 | ||||||
| chrX:108544894
|
C | T | 1 | a0001c0001t0001g0255 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.141+5089C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544894 | ||||||
| chrX:108544967
|
A | T | 30 | a0002c0002t0001g0003a0002c0002t0001g0012a0002c0002t0001g0013others(27): Show | 30 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(27): Show |
intron_variant | MODIFIER | c.141+5162A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544967 | ||||||
| chrX:108545252
|
G | A | 1 | a0001c0001t0001g0043 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.141+5447G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545252 | ||||||
| chrX:108545284
|
G | A | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.141+5479G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545284 | ||||||
| chrX:108545327
|
T | C | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.141+5522T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545327 | ||||||
| chrX:108545463
|
G | T | 1 | a0001c0001t0001g0155 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.141+5658G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545463 | ||||||
| chrX:108545484
|
A | G | 8 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(5): Show | 8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.141+5679A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545484 | ||||||
| chrX:108545573
|
A | G | 3 | a0001c0001t0001g0076a0001c0001t0001g0106a0001c0001t0001g0107 | 3 | HG01069.hp1 HG01071.hp2 HG03688.hp1 |
intron_variant | MODIFIER | c.141+5768A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545573 | ||||||
| chrX:108545699
|
A | G | 1 | a0001c0001t0001g0253 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.141+5894A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545699 | ||||||
| chrX:108545746
|
T | A | 1 | a0002c0002t0001g0023 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.141+5941T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545746 | ||||||
| chrX:108545747
|
CTCTT | C | 1 | a0002c0002t0001g0023 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.141+5946_141+5949d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chrX | 108545747 | |||||
| chrX:108545752
|
T | A | 1 | a0002c0002t0001g0023 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.141+5947T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545752 | ||||||
| chrX:108545757
|
G | A | 1 | a0002c0002t0001g0023 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.141+5952G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545757 | ||||||
| chrX:108545759
|
C | CGCG | 1 | a0002c0002t0001g0023 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.141+5954_141+5955i others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545759 | ||||||
| chrX:108545761
|
C | G | 1 | a0002c0002t0001g0023 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.141+5956C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545761 | ||||||
| chrX:108545763
|
A | T | 1 | a0002c0002t0001g0023 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.141+5958A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545763 | ||||||
| chrX:108545804
|
C | CAT | 1 | a0002c0002t0001g0023 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.141+6006_141+6007d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chrX | 108545804 | |||||
| chrX:108545903
|
G | C | 1 | a0001c0001t0001g0116 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.141+6098G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545903 | ||||||
| chrX:108545904
|
T | C | 1 | a0001c0001t0001g0116 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.141+6099T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545904 | ||||||
| chrX:108545909
|
T | C | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.141+6104T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545909 | ||||||
| chrX:108546096
|
C | T | 182 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(179): Show | 182 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(179): Show |
intron_variant | MODIFIER | c.141+6291C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546096 | ||||||
| chrX:108546166
|
T | C | 2 | a0001c0001t0001g0131a0001c0001t0001g0147 | 2 | HG03453.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.141+6361T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546166 | ||||||
| chrX:108546202
|
A | C | 1 | a0001c0001t0001g0196 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.141+6397A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546202 | ||||||
| chrX:108546233
|
G | T | 1 | a0002c0002t0001g0041 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.141+6428G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546233 | ||||||
| chrX:108546260
|
C | T | 2 | a0001c0001t0001g0115a0001c0001t0001g0139 | 2 | HG00733.hp1 HG01952.hp1 |
intron_variant | MODIFIER | c.141+6455C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546260 | ||||||
| chrX:108546551
|
T | G | 1 | a0001c0001t0001g0056 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.141+6746T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546551 | ||||||
| chrX:108546737
|
C | G | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.141+6932C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546737 | ||||||
| chrX:108546766
|
C | G | 18 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(15): Show | 18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.141+6961C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546766 | ||||||
| chrX:108546803
|
C | T | 1 | a0001c0001t0001g0182 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.141+6998C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546803 | ||||||
| chrX:108546804
|
G | A | 1 | a0001c0001t0001g0248 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.141+6999G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546804 | ||||||
| chrX:108546896
|
C | T | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.141+7091C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546896 | ||||||
| chrX:108546901
|
T | C | 182 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(179): Show | 182 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(179): Show |
intron_variant | MODIFIER | c.141+7096T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546901 | ||||||
| chrX:108546926
|
C | T | 30 | a0002c0002t0001g0003a0002c0002t0001g0012a0002c0002t0001g0013others(27): Show | 30 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(27): Show |
intron_variant | MODIFIER | c.141+7121C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546926 | ||||||
| chrX:108546938
|
G | A | 2 | a0002c0002t0001g0013a0002c0002t0001g0025 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.141+7133G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546938 | ||||||
| chrX:108547007
|
C | T | 1 | a0001c0003t0001g0219 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.141+7202C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547007 | ||||||
| chrX:108547033
|
A | G | 1 | a0001c0001t0001g0117 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7228A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547033 | ||||||
| chrX:108547037
|
G | C | 1 | a0001c0001t0001g0117 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7232G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547037 | ||||||
| chrX:108547043
|
A | T | 2 | a0001c0001t0001g0057a0001c0001t0001g0172 | 2 | HG02132.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.141+7238A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547043 | ||||||
| chrX:108547044
|
T | A | 1 | a0001c0001t0001g0117 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7239T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547044 | ||||||
| chrX:108547072
|
A | G | 1 | a0001c0001t0001g0117 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7267A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547072 | ||||||
| chrX:108547074
|
G | A | 1 | a0001c0001t0001g0117 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7269G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547074 | ||||||
| chrX:108547085
|
A | G | 1 | a0001c0001t0001g0117 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7280A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547085 | ||||||
| chrX:108547090
|
T | A | 1 | a0001c0001t0001g0117 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7285T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547090 | ||||||
| chrX:108547104
|
C | G | 1 | a0001c0001t0001g0117 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7299C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547104 | ||||||
| chrX:108547110
|
T | G | 1 | a0001c0001t0001g0117 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7305T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547110 | ||||||
| chrX:108547122
|
C | G | 1 | a0001c0001t0001g0117 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7317C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547122 | ||||||
| chrX:108547126
|
T | A | 1 | a0001c0001t0001g0117 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7321T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547126 | ||||||
| chrX:108547149
|
T | A | 1 | a0001c0001t0001g0117 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7344T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547149 | ||||||
| chrX:108547286
|
C | T | 1 | a0003c0005t0014g0110 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.141+7481C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547286 | ||||||
| chrX:108547428
|
T | C | 49 | a0001c0001t0001g0254a0002c0002t0001g0002a0002c0002t0001g0003others(46): Show | 49 | HG00738.hp1 HG01975.hp2 HG01978.hp2 others(46): Show |
intron_variant | MODIFIER | c.141+7623T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547428 | ||||||
| chrX:108547496
|
G | A | 2 | a0001c0001t0001g0115a0001c0001t0001g0139 | 2 | HG00733.hp1 HG01952.hp1 |
intron_variant | MODIFIER | c.141+7691G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547496 | ||||||
| chrX:108547559
|
G | A | 1 | a0001c0001t0001g0179 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.141+7754G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547559 | ||||||
| chrX:108547824
|
C | T | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.141+8019C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547824 | ||||||
| chrX:108547825
|
A | T | 2 | a0002c0002t0001g0016a0002c0002t0001g0022 | 2 | HG02083.hp1 HG02155.hp2 |
intron_variant | MODIFIER | c.141+8020A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547825 | ||||||
| chrX:108547896
|
G | T | 25 | a0001c0001t0001g0001a0001c0001t0001g0058a0001c0001t0001g0182others(22): Show | 25 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(22): Show |
intron_variant | MODIFIER | c.141+8091G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547896 | ||||||
| chrX:108548058
|
G | A | 6 | a0001c0001t0001g0202a0001c0001t0001g0203a0001c0001t0001g0242others(3): Show | 6 | HG02109.hp2 HG02486.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.141+8253G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548058 | ||||||
| chrX:108548066
|
C | T | 7 | a0001c0001t0001g0051a0001c0001t0001g0074a0001c0001t0001g0124others(4): Show | 7 | HG02257.hp1 HG02451.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.141+8261C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548066 | ||||||
| chrX:108548067
|
G | A | 1 | a0002c0002t0001g0267 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.141+8262G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548067 | ||||||
| chrX:108548090
|
A | T | 1 | a0001c0001t0001g0101 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.141+8285A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548090 | ||||||
| chrX:108548142
|
G | C | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.141+8337G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548142 | ||||||
| chrX:108548203
|
C | T | 1 | a0001c0001t0001g0203 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.141+8398C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548203 | ||||||
| chrX:108548580
|
G | A | 1 | a0001c0003t0001g0218 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.141+8775G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548580 | ||||||
| chrX:108548654
|
C | T | 30 | a0002c0002t0001g0003a0002c0002t0001g0012a0002c0002t0001g0013others(27): Show | 30 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(27): Show |
intron_variant | MODIFIER | c.141+8849C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548654 | ||||||
| chrX:108548771
|
G | A | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.141+8966G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548771 | ||||||
| chrX:108548840
|
TA | T | 1 | a0002c0002t0001g0005 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.141+9044delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chrX | 108548840 | |||||
| chrX:108548886
|
C | G | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.141+9081C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548886 | ||||||
| chrX:108548908
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+9103A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548908 | ||||||
| chrX:108549168
|
G | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+9363G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108549168 | ||||||
| chrX:108550237
|
G | A | 14 | a0001c0001t0001g0123a0001c0001t0001g0129a0001c0001t0001g0134others(11): Show | 14 | HG00558.hp1 HG00735.hp2 HG01123.hp1 others(11): Show |
intron_variant | MODIFIER | c.142-8827G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108550237 | ||||||
| chrX:108550268
|
C | G | 1 | a0001c0001t0001g0203 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.142-8796C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108550268 | ||||||
| chrX:108550303
|
C | T | 3 | a0001c0001t0001g0060a0001c0001t0001g0251a0001c0001t0004g0059 | 3 | HG02897.hp2 HG03540.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.142-8761C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108550303 | ||||||
| chrX:108550394
|
C | T | 184 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(181): Show | 184 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(181): Show |
intron_variant | MODIFIER | c.142-8670C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108550394 | ||||||
| chrX:108550662
|
C | T | 1 | a0002c0002t0001g0022 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.142-8402C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108550662 | ||||||
| chrX:108550706
|
C | T | 2 | a0005c0007t0001g0260a0005c0007t0001g0262 | 2 | HG02523.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.142-8358C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108550706 | ||||||
| chrX:108550707
|
G | A | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.142-8357G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108550707 | ||||||
| chrX:108550727
|
A | T | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.142-8337A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108550727 | ||||||
| chrX:108550874
|
G | A | 1 | a0001c0001t0001g0101 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.142-8190G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108550874 | ||||||
| chrX:108551014
|
C | T | 1 | a0001c0001t0001g0180 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.142-8050C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108551014 | ||||||
| chrX:108551022
|
A | G | 1 | a0001c0001t0001g0255 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.142-8042A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108551022 | ||||||
| chrX:108551145
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-7919T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108551145 | ||||||
| chrX:108551160
|
A | G | 1 | a0001c0001t0001g0121 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.142-7904A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108551160 | ||||||
| chrX:108551274
|
T | C | 1 | a0001c0001t0001g0134 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.142-7790T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108551274 | ||||||
| chrX:108551609
|
T | G | 1 | a0002c0002t0001g0267 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.142-7455T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108551609 | ||||||
| chrX:108551765
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-7299A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108551765 | ||||||
| chrX:108551819
|
A | G | 1 | a0001c0001t0001g0046 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.142-7245A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108551819 | ||||||
| chrX:108552057
|
TG | T | 1 | a0001c0001t0001g0143 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.142-7002delG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chrX | 108552057 | |||||
| chrX:108552186
|
G | A | 4 | a0001c0001t0001g0202a0001c0001t0001g0203a0001c0001t0001g0242others(1): Show | 4 | HG02109.hp2 HG02486.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.142-6878G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108552186 | ||||||
| chrX:108552209
|
T | TA | 1 | a0001c0001t0001g0076 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.142-6845dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chrX | 108552209 | |||||
| chrX:108552216
|
A | G | 184 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(181): Show | 184 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(181): Show |
intron_variant | MODIFIER | c.142-6848A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108552216 | ||||||
| chrX:108552684
|
A | T | 1 | a0004c0006t0001g0246 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.142-6380A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108552684 | ||||||
| chrX:108552685
|
C | A | 1 | a0004c0006t0001g0246 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.142-6379C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108552685 | ||||||
| chrX:108552741
|
C | G | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.142-6323C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108552741 | ||||||
| chrX:108552962
|
T | C | 2 | a0001c0001t0010g0198a0012c0011t0001g0201 | 2 | HG00099.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.142-6102T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108552962 | ||||||
| chrX:108553065
|
A | C | 1 | a0001c0001t0006g0205 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.142-5999A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108553065 | ||||||
| chrX:108553207
|
C | T | 1 | a0002c0002t0001g0066 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.142-5857C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108553207 | ||||||
| chrX:108553253
|
A | G | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.142-5811A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108553253 | ||||||
| chrX:108553583
|
T | G | 1 | a0001c0001t0005g0185 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.142-5481T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108553583 | ||||||
| chrX:108553826
|
TC | T | 1 | a0003c0005t0001g0112 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.142-5235delC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chrX | 108553826 | |||||
| chrX:108554128
|
A | G | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.142-4936A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108554128 | ||||||
| chrX:108554939
|
A | G | 2 | a0002c0002t0001g0017a0002c0002t0001g0018 | 2 | NA18957.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.142-4125A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108554939 | ||||||
| chrX:108554971
|
A | T | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.142-4093A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108554971 | ||||||
| chrX:108555047
|
CAA | C | 1 | a0002c0002t0001g0038 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.142-4015_142-4014d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chrX | 108555047 | |||||
| chrX:108555088
|
A | G | 1 | a0002c0002t0001g0070 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.142-3976A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108555088 | ||||||
| chrX:108555384
|
T | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-3680T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108555384 | ||||||
| chrX:108555723
|
T | C | 1 | a0014c0008t0001g0162 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.142-3341T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108555723 | ||||||
| chrX:108556386
|
C | T | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.142-2678C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108556386 | ||||||
| chrX:108556496
|
CAG | C | 49 | a0001c0001t0001g0064a0002c0002t0001g0002a0002c0002t0001g0003others(46): Show | 49 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(46): Show |
intron_variant | MODIFIER | c.142-2558_142-2557d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chrX | 108556496 | |||||
| chrX:108556835
|
A | G | 1 | a0001c0001t0001g0183 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.142-2229A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108556835 | ||||||
| chrX:108557057
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-2007C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108557057 | ||||||
| chrX:108557383
|
A | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-1681A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108557383 | ||||||
| chrX:108557428
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-1636G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108557428 | ||||||
| chrX:108557439
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-1625T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108557439 | ||||||
| chrX:108557486
|
A | T | 1 | a0001c0001t0001g0257 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.142-1578A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108557486 | ||||||
| chrX:108557640
|
AAC | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-1407_142-1406d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chrX | 108557640 | |||||
| chrX:108557689
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-1375C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108557689 | ||||||
| chrX:108557792
|
T | C | 1 | a0001c0001t0001g0151 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.142-1272T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108557792 | ||||||
| chrX:108557862
|
G | A | 8 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(5): Show | 8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.142-1202G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108557862 | ||||||
| chrX:108557916
|
G | A | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.142-1148G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108557916 | ||||||
| chrX:108557929
|
A | G | 2 | a0001c0001t0001g0061a0001c0001t0001g0064 | 2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.142-1135A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108557929 | ||||||
| chrX:108558068
|
T | TC | 1 | a0001c0003t0001g0219 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.142-990dupC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chrX | 108558068 | |||||
| chrX:108558159
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-905G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108558159 | ||||||
| chrX:108558260
|
A | T | 1 | a0001c0001t0001g0044 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.142-804A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108558260 | ||||||
| chrX:108558380
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-684A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108558380 | ||||||
| chrX:108558490
|
C | T | 1 | a0001c0001t0001g0093 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.142-574C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108558490 | ||||||
| chrX:108558491
|
G | A | 2 | a0001c0001t0001g0206a0001c0001t0001g0208 | 2 | HG01243.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.142-573G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108558491 | ||||||
| chrX:108558736
|
AC | A | 1 | a0001c0003t0001g0215 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.142-325delC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chrX | 108558736 | |||||
| chrX:108560003
|
C | T | 1 | a0010c0016t0001g0175 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.231+850C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108560003 | ||||||
| chrX:108560030
|
T | C | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.231+877T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108560030 | ||||||
| chrX:108560120
|
A | G | 1 | a0001c0003t0001g0219 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.231+967A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108560120 | ||||||
| chrX:108560594
|
A | G | 1 | a0001c0001t0001g0098 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.231+1441A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108560594 | ||||||
| chrX:108560772
|
G | A | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.231+1619G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108560772 | ||||||
| chrX:108561195
|
A | G | 1 | a0002c0002t0001g0070 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.231+2042A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108561195 | ||||||
| chrX:108561364
|
A | T | 8 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(5): Show | 8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.231+2211A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108561364 | ||||||
| chrX:108561464
|
G | T | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.231+2311G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108561464 | ||||||
| chrX:108561517
|
G | GT | 6 | a0001c0001t0001g0043a0001c0001t0001g0087a0001c0001t0001g0088others(3): Show | 6 | HG00438.hp2 NA18979.hp2 NA18982.hp1 others(3): Show |
intron_variant | MODIFIER | c.232-2354dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chrX | 108561517 | |||||
| chrX:108561517
|
GT | G | 2 | a0001c0001t0001g0160a0003c0005t0001g0112 | 2 | HG01169.hp1 NA18969.hp2 |
intron_variant | MODIFIER | c.232-2354delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chrX | 108561517 | |||||
| chrX:108561578
|
A | G | 184 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(181): Show | 184 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(181): Show |
intron_variant | MODIFIER | c.232-2304A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108561578 | ||||||
| chrX:108562128
|
G | T | 1 | a0001c0001t0001g0188 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.232-1754G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108562128 | ||||||
| chrX:108562153
|
G | C | 1 | a0001c0001t0001g0053 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.232-1729G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108562153 | ||||||
| chrX:108562257
|
G | A | 2 | a0001c0001t0001g0061a0001c0001t0001g0064 | 2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.232-1625G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108562257 | ||||||
| chrX:108562511
|
AG | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.232-1369delG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chrX | 108562511 | |||||
| chrX:108562575
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.232-1307G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108562575 | ||||||
| chrX:108562607
|
C | G | 1 | a0001c0001t0001g0054 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.232-1275C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108562607 | ||||||
| chrX:108562619
|
G | T | 9 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(6): Show | 9 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.232-1263G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108562619 | ||||||
| chrX:108562795
|
CA | C | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.232-1084delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chrX | 108562795 | |||||
| chrX:108562888
|
C | A | 1 | a0001c0001t0001g0117 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.232-994C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108562888 | ||||||
| chrX:108563096
|
G | A | 260 | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0044others(257): Show | 260 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(257): Show |
intron_variant | MODIFIER | c.232-786G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108563096 | ||||||
| chrX:108563126
|
GC | G | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.232-754delC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chrX | 108563126 | |||||
| chrX:108563152
|
G | C | 1 | a0001c0001t0001g0240 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.232-730G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108563152 | ||||||
| chrX:108563189
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.232-693T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108563189 | ||||||
| chrX:108563209
|
T | A | 1 | a0001c0001t0001g0129 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.232-673T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108563209 | ||||||
| chrX:108563236
|
AGTT | A | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.232-645_232-643del others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108563236 | ||||||
| chrX:108563392
|
C | T | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.232-490C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108563392 | ||||||
| chrX:108563849
|
C | T | 1 | a0001c0001t0001g0078 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.232-33C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108563849 | ||||||
| chrX:108563865
|
A | C | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-17A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108563865 | ||||||
| chrX:108563995
|
T | C | 1 | a0001c0001t0015g0075 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.276+69T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108563995 | ||||||
| chrX:108564020
|
TA | T | 1 | a0001c0001t0001g0122 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.276+98delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chrX | 108564020 | |||||
| chrX:108564285
|
G | A | 1 | a0001c0001t0001g0050 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.276+359G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108564285 | ||||||
| chrX:108564325
|
T | G | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.276+399T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108564325 | ||||||
| chrX:108564724
|
T | G | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.276+798T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108564724 | ||||||
| chrX:108564797
|
A | G | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.276+871A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108564797 | ||||||
| chrX:108564873
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.276+947C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108564873 | ||||||
| chrX:108564891
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.276+965A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108564891 | ||||||
| chrX:108564992
|
T | TA | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.276+1071dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chrX | 108564992 | |||||
| chrX:108565174
|
A | T | 6 | a0001c0001t0001g0084a0001c0001t0001g0086a0001c0001t0001g0089others(3): Show | 6 | HG00673.hp1 NA18939.hp2 NA18942.hp1 others(3): Show |
intron_variant | MODIFIER | c.276+1248A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108565174 | ||||||
| chrX:108565256
|
A | G | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.276+1330A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108565256 | ||||||
| chrX:108565604
|
T | C | 1 | a0001c0001t0001g0094 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.276+1678T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108565604 | ||||||
| chrX:108565984
|
C | CT | 12 | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0050others(9): Show | 12 | HG00408.hp2 HG00558.hp2 HG00609.hp1 others(9): Show |
intron_variant | MODIFIER | c.276+2076dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chrX | 108565984 | |||||
| chrX:108565984
|
CT | C | 62 | a0001c0001t0001g0045a0001c0001t0001g0118a0001c0001t0001g0119others(59): Show | 62 | HG01167.hp1 HG01975.hp2 HG01978.hp2 others(59): Show |
intron_variant | MODIFIER | c.276+2076delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chrX | 108565984 | |||||
| chrX:108565984
|
CTT | C | 2 | a0002c0002t0001g0019a0002c0002t0001g0026 | 2 | NA18986.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.276+2075_276+2076d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chrX | 108565984 | |||||
| chrX:108565987
|
T | C | 1 | a0001c0001t0001g0051 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.276+2061T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108565987 | ||||||
| chrX:108566080
|
A | G | 1 | a0001c0001t0001g0044 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.276+2154A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108566080 | ||||||
| chrX:108566118
|
G | A | 1 | a0001c0001t0011g0237 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.276+2192G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108566118 | ||||||
| chrX:108566202
|
A | G | 1 | a0001c0003t0001g0218 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.276+2276A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108566202 | ||||||
| chrX:108566238
|
C | CT | 5 | a0001c0001t0001g0195a0002c0004t0001g0263a0005c0007t0001g0260others(2): Show | 5 | HG02055.hp1 HG02523.hp1 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.276+2325dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chrX | 108566238 | |||||
| chrX:108566238
|
CT | C | 2 | a0001c0001t0001g0133a0002c0002t0001g0035 | 2 | HG01975.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.276+2325delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chrX | 108566238 | |||||
| chrX:108566394
|
C | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.277-2235C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108566394 | ||||||
| chrX:108566407
|
T | G | 1 | a0001c0001t0001g0146 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.277-2222T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108566407 | ||||||
| chrX:108566442
|
G | A | 1 | a0001c0001t0001g0139 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.277-2187G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108566442 | ||||||
| chrX:108566538
|
G | GT | 3 | a0001c0001t0001g0045a0001c0001t0001g0231a0006c0017t0001g0102 | 3 | HG02074.hp1 NA19058.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.277-2079dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chrX | 108566538 | |||||
| chrX:108566547
|
T | C | 2 | a0002c0002t0001g0068a0002c0002t0001g0069 | 2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.277-2082T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108566547 | ||||||
| chrX:108566634
|
C | G | 1 | a0001c0001t0001g0134 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.277-1995C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108566634 | ||||||
| chrX:108566661
|
G | C | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.277-1968G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108566661 | ||||||
| chrX:108566673
|
C | T | 1 | a0001c0001t0001g0100 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.277-1956C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108566673 | ||||||
| chrX:108567034
|
C | CT | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.277-1590dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chrX | 108567034 | |||||
| chrX:108567654
|
C | T | 1 | a0001c0001t0001g0148 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.277-975C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108567654 | ||||||
| chrX:108567729
|
T | C | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.277-900T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108567729 | ||||||
| chrX:108567911
|
A | C | 6 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0158others(3): Show | 6 | HG01192.hp1 HG01515.hp1 HG01517.hp2 others(3): Show |
intron_variant | MODIFIER | c.277-718A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108567911 | ||||||
| chrX:108568125
|
A | G | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.277-504A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108568125 | ||||||
| chrX:108568162
|
C | A | 1 | a0002c0002t0001g0040 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.277-467C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108568162 | ||||||
| chrX:108568274
|
A | C | 182 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(179): Show | 182 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(179): Show |
intron_variant | MODIFIER | c.277-355A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108568274 | ||||||
| chrX:108568444
|
A | G | 1 | a0002c0002t0001g0041 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.277-185A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108568444 | ||||||
| chrX:108569357
|
A | G | 2 | a0001c0001t0001g0184a0001c0001t0001g0193 | 2 | HG00140.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.384+536A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 6/52 | chrX | 108569357 | ||||||
| chrX:108569673
|
GTTTGTTT | G | 1 | a0001c0001t0001g0168 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.384+871_384+877del others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 6/52 | INFO_REALIGN_3_PRIME | chrX | 108569673 | |||||
| chrX:108569802
|
C | G | 1 | a0001c0001t0001g0148 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.384+981C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 6/52 | chrX | 108569802 | ||||||
| chrX:108569849
|
G | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.384+1028G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 6/52 | chrX | 108569849 | ||||||
| chrX:108569947
|
TG | T | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.384+1129delG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 6/52 | INFO_REALIGN_3_PRIME | chrX | 108569947 | |||||
| chrX:108570424
|
CAGTGTGC others(3): Show |
C | 7 | a0002c0002t0001g0011a0002c0002t0001g0035a0002c0002t0001g0037others(4): Show | 7 | HG02723.hp2 HG02818.hp2 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.385-987_385-978del others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 6/52 | INFO_REALIGN_3_PRIME | chrX | 108570424 | |||||
| chrX:108570425
|
AGTG | A | 1 | a0002c0002t0001g0036 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.385-987_385-985del others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 6/52 | chrX | 108570425 | ||||||
| chrX:108570431
|
C | A | 1 | a0002c0002t0001g0036 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.385-982C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 6/52 | chrX | 108570431 | ||||||
| chrX:108570432
|
TATA | T | 1 | a0002c0002t0001g0036 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.385-980_385-978del others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 6/52 | chrX | 108570432 | ||||||
| chrX:108570440
|
TA | T | 1 | a0002c0002t0001g0036 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.385-970delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 6/52 | INFO_REALIGN_3_PRIME | chrX | 108570440 | |||||
| chrX:108570561
|
T | C | 1 | a0001c0001t0001g0254 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.385-852T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 6/52 | chrX | 108570561 | ||||||
| chrX:108570996
|
TC | T | 1 | a0001c0001t0001g0141 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.385-413delC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 6/52 | INFO_REALIGN_3_PRIME | chrX | 108570996 | |||||
| chrX:108571316
|
G | A | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.385-97G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 6/52 | chrX | 108571316 | ||||||
| chrX:108571502
|
G | T | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.438+36G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 7/52 | chrX | 108571502 | ||||||
| chrX:108571774
|
A | C | 1 | a0002c0002t0001g0070 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.439-37A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 7/52 | chrX | 108571774 | ||||||
| chrX:108572037
|
A | AAATG | 4 | a0001c0001t0001g0045a0001c0001t0001g0118a0001c0001t0001g0119others(1): Show | 4 | HG02074.hp1 NA18947.hp1 NA19081.hp1 others(1): Show |
intron_variant | MODIFIER | c.465+201_465+204dup others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | INFO_REALIGN_3_PRIME | chrX | 108572037 | |||||
| chrX:108572256
|
A | G | 1 | a0001c0001t0001g0224 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.465+419A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | chrX | 108572256 | ||||||
| chrX:108572504
|
T | G | 5 | a0001c0001t0001g0243a0001c0001t0001g0247a0004c0006t0001g0244others(2): Show | 5 | NA18939.hp1 NA18988.hp1 NA18990.hp1 others(2): Show |
intron_variant | MODIFIER | c.465+667T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | chrX | 108572504 | ||||||
| chrX:108572704
|
G | A | 1 | a0002c0002t0001g0010 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.465+867G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | chrX | 108572704 | ||||||
| chrX:108572835
|
AGTTT | A | 1 | a0001c0001t0001g0115 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.466-732_466-729del others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | INFO_REALIGN_3_PRIME | chrX | 108572835 | |||||
| chrX:108572875
|
A | G | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.466-699A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | chrX | 108572875 | ||||||
| chrX:108573105
|
C | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.466-469C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | chrX | 108573105 | ||||||
| chrX:108573121
|
G | GT | 13 | a0001c0001t0004g0059a0001c0003t0001g0062a0001c0003t0001g0063others(10): Show | 13 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.466-442dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | INFO_REALIGN_3_PRIME | chrX | 108573121 | |||||
| chrX:108573208
|
A | G | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.466-366A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | chrX | 108573208 | ||||||
| chrX:108573210
|
A | G | 2 | a0001c0001t0001g0158a0001c0001t0001g0171 | 2 | HG01515.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.466-364A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | chrX | 108573210 | ||||||
| chrX:108573315
|
A | G | 6 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0080others(3): Show | 6 | HG00558.hp2 HG00609.hp1 NA18947.hp2 others(3): Show |
intron_variant | MODIFIER | c.466-259A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | chrX | 108573315 | ||||||
| chrX:108573448
|
ACTGAGAT others(8): Show |
A | 1 | a0013c0018t0001g0111 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.466-123_466-109del others(15): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | INFO_REALIGN_3_PRIME | chrX | 108573448 | |||||
| chrX:108574402
|
A | G | 1 | a0001c0001t0001g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.546+748A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108574402 | ||||||
| chrX:108574669
|
A | G | 2 | a0001c0001t0001g0124a0001c0001t0001g0169 | 2 | HG02630.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.546+1015A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108574669 | ||||||
| chrX:108574792
|
G | A | 1 | a0014c0008t0001g0162 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.547-1118G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108574792 | ||||||
| chrX:108574861
|
C | T | 1 | a0011c0010t0001g0261 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.547-1049C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108574861 | ||||||
| chrX:108575058
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.547-852G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108575058 | ||||||
| chrX:108575102
|
T | C | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.547-808T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108575102 | ||||||
| chrX:108575254
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.547-656C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108575254 | ||||||
| chrX:108575290
|
G | C | 1 | a0001c0003t0001g0219 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.547-620G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108575290 | ||||||
| chrX:108575429
|
T | G | 1 | a0001c0001t0001g0174 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.547-481T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108575429 | ||||||
| chrX:108575432
|
A | T | 49 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(46): Show | 49 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(46): Show |
intron_variant | MODIFIER | c.547-478A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108575432 | ||||||
| chrX:108575578
|
G | A | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.547-332G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108575578 | ||||||
| chrX:108575666
|
G | A | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.547-244G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108575666 | ||||||
| chrX:108575878
|
T | C | 1 | a0001c0001t0001g0225 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.547-32T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108575878 | ||||||
| chrX:108575993
|
T | C | 98 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(95): Show | 98 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(95): Show |
intron_variant | MODIFIER | c.609+21T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108575993 | ||||||
| chrX:108576141
|
CTAAG | C | 3 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0192 | 3 | HG00280.hp1 HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.609+173_609+176del others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | INFO_REALIGN_3_PRIME | chrX | 108576141 | |||||
| chrX:108576432
|
T | C | 1 | a0001c0001t0001g0125 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.609+460T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108576432 | ||||||
| chrX:108576485
|
C | T | 1 | a0001c0001t0001g0053 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.609+513C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108576485 | ||||||
| chrX:108577100
|
G | C | 6 | a0003c0005t0001g0109a0003c0005t0001g0112a0003c0005t0001g0113others(3): Show | 6 | NA18949.hp2 NA18951.hp2 NA18959.hp1 others(3): Show |
intron_variant | MODIFIER | c.610-852G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108577100 | ||||||
| chrX:108577304
|
G | A | 1 | a0001c0001t0001g0228 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.610-648G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108577304 | ||||||
| chrX:108577372
|
C | CA | 8 | a0001c0001t0001g0064a0001c0001t0001g0130a0001c0001t0001g0173others(5): Show | 8 | HG01106.hp1 HG02258.hp1 HG03579.hp1 others(5): Show |
intron_variant | MODIFIER | c.610-560dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | INFO_REALIGN_3_PRIME | chrX | 108577372 | |||||
| chrX:108577372
|
CA | C | 21 | a0001c0001t0001g0043a0001c0001t0001g0046a0001c0001t0001g0088others(18): Show | 21 | HG01081.hp1 HG01123.hp1 HG01169.hp1 others(18): Show |
intron_variant | MODIFIER | c.610-560delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | INFO_REALIGN_3_PRIME | chrX | 108577372 | |||||
| chrX:108577372
|
CAA | C | 50 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(47): Show | 50 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(47): Show |
intron_variant | MODIFIER | c.610-561_610-560del others(2): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | INFO_REALIGN_3_PRIME | chrX | 108577372 | |||||
| chrX:108577389
|
A | AAAAG | 1 | a0001c0001t0001g0170 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.610-543_610-540dup others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | INFO_REALIGN_3_PRIME | chrX | 108577389 | |||||
| chrX:108577551
|
A | C | 1 | a0004c0006t0001g0246 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.610-401A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108577551 | ||||||
| chrX:108577647
|
T | A | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.610-305T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108577647 | ||||||
| chrX:108577689
|
T | C | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.610-263T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108577689 | ||||||
| chrX:108577707
|
C | T | 1 | a0001c0001t0001g0235 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.610-245C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108577707 | ||||||
| chrX:108577723
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.610-229C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108577723 | ||||||
| chrX:108577831
|
C | G | 1 | a0001c0001t0001g0243 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.610-121C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108577831 | ||||||
| chrX:108578244
|
T | C | 1 | a0001c0001t0001g0188 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.688-47T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 12/52 | chrX | 108578244 | ||||||
| chrX:108578525
|
C | T | 3 | a0001c0001t0001g0076a0001c0001t0001g0106a0001c0001t0001g0107 | 3 | HG01069.hp1 HG01071.hp2 HG03688.hp1 |
intron_variant | MODIFIER | c.780+142C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | chrX | 108578525 | ||||||
| chrX:108578546
|
GA | G | 1 | a0002c0002t0001g0040 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.780+170delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | INFO_REALIGN_3_PRIME | chrX | 108578546 | |||||
| chrX:108578636
|
T | C | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.780+253T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | chrX | 108578636 | ||||||
| chrX:108578644
|
TA | T | 1 | a0001c0003t0007g0220 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.780+262delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | chrX | 108578644 | ||||||
| chrX:108578680
|
A | AT | 52 | a0001c0001t0001g0193a0001c0001t0001g0236a0002c0002t0001g0002others(49): Show | 52 | HG01123.hp2 HG01975.hp2 HG01978.hp2 others(49): Show |
intron_variant | MODIFIER | c.780+313dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | INFO_REALIGN_3_PRIME | chrX | 108578680 | |||||
| chrX:108578680
|
A | ATT | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.780+312_780+313dup others(2): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | INFO_REALIGN_3_PRIME | chrX | 108578680 | |||||
| chrX:108578969
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.780+586T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | chrX | 108578969 | ||||||
| chrX:108579059
|
A | AT | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.780+686dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | INFO_REALIGN_3_PRIME | chrX | 108579059 | |||||
| chrX:108579225
|
G | A | 1 | a0002c0002t0001g0041 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.780+842G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | chrX | 108579225 | ||||||
| chrX:108579574
|
G | A | 1 | a0002c0002t0001g0070 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.781-959G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | chrX | 108579574 | ||||||
| chrX:108579710
|
A | G | 2 | a0001c0001t0001g0061a0001c0001t0001g0064 | 2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.781-823A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | chrX | 108579710 | ||||||
| chrX:108579721
|
G | A | 1 | a0001c0001t0001g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.781-812G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | chrX | 108579721 | ||||||
| chrX:108580453
|
T | C | 1 | a0001c0001t0001g0195 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.781-80T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | chrX | 108580453 | ||||||
| chrX:108580775
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.891+37A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 15/52 | chrX | 108580775 | ||||||
| chrX:108580818
|
T | TCTTA | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.891+83_891+84insAC others(2): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 15/52 | INFO_REALIGN_3_PRIME | chrX | 108580818 | |||||
| chrX:108581130
|
G | A | 1 | a0001c0001t0001g0159 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.936+103G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | chrX | 108581130 | ||||||
| chrX:108581192
|
TA | T | 1 | a0001c0001t0001g0156 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.936+171delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chrX | 108581192 | |||||
| chrX:108581301
|
A | G | 1 | a0001c0001t0001g0221 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.936+274A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | chrX | 108581301 | ||||||
| chrX:108581652
|
C | G | 1 | a0002c0002t0001g0010 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.936+625C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | chrX | 108581652 | ||||||
| chrX:108581658
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.936+631G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | chrX | 108581658 | ||||||
| chrX:108582016
|
G | A | 2 | a0001c0001t0001g0061a0001c0001t0001g0064 | 2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.937-868G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | chrX | 108582016 | ||||||
| chrX:108582016
|
G | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.937-868G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | chrX | 108582016 | ||||||
| chrX:108582107
|
G | A | 1 | a0001c0001t0001g0174 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.937-777G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | chrX | 108582107 | ||||||
| chrX:108582287
|
G | A | 1 | a0001c0001t0001g0160 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.937-597G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | chrX | 108582287 | ||||||
| chrX:108582627
|
C | A | 6 | a0002c0002t0001g0003a0002c0002t0001g0026a0002c0002t0001g0027others(3): Show | 6 | NA18612.hp1 NA18941.hp1 NA18981.hp2 others(3): Show |
intron_variant | MODIFIER | c.937-257C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | chrX | 108582627 | ||||||
| chrX:108582695
|
C | CT | 1 | a0001c0001t0001g0064 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.937-170dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chrX | 108582695 | |||||
| chrX:108582695
|
C | CTT | 1 | a0001c0001t0001g0061 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.937-171_937-170dup others(2): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chrX | 108582695 | |||||
| chrX:108582695
|
CT | C | 189 | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0044others(186): Show | 189 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(186): Show |
intron_variant | MODIFIER | c.937-170delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chrX | 108582695 | |||||
| chrX:108582695
|
CTT | C | 62 | a0001c0001t0001g0051a0001c0001t0001g0074a0001c0001t0001g0124others(59): Show | 62 | HG01167.hp1 HG01975.hp2 HG01978.hp2 others(59): Show |
intron_variant | MODIFIER | c.937-171_937-170del others(2): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chrX | 108582695 | |||||
| chrX:108582695
|
CTTT | C | 1 | a0002c0002t0001g0011 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.937-172_937-170del others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chrX | 108582695 | |||||
| chrX:108582695
|
CTTTT | C | 2 | a0002c0002t0001g0017a0002c0002t0001g0018 | 2 | NA18957.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.937-173_937-170del others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chrX | 108582695 | |||||
| chrX:108583054
|
A | T | 1 | a0009c0015t0001g0103 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.990+117A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | chrX | 108583054 | ||||||
| chrX:108583309
|
A | G | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.990+372A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | chrX | 108583309 | ||||||
| chrX:108583337
|
A | G | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.990+400A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | chrX | 108583337 | ||||||
| chrX:108583384
|
C | A | 2 | a0001c0001t0001g0158a0001c0001t0001g0171 | 2 | HG01515.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.990+447C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | chrX | 108583384 | ||||||
| chrX:108583745
|
A | G | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.991-739A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | chrX | 108583745 | ||||||
| chrX:108583969
|
T | C | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.991-515T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | chrX | 108583969 | ||||||
| chrX:108584001
|
G | A | 224 | a0001c0001t0001g0001a0001c0001t0001g0045a0001c0001t0001g0046others(221): Show | 224 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(221): Show |
intron_variant | MODIFIER | c.991-483G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | chrX | 108584001 | ||||||
| chrX:108584073
|
T | TA | 66 | a0001c0001t0001g0121a0001c0001t0001g0131a0001c0001t0001g0134others(63): Show | 66 | HG01106.hp1 HG01109.hp1 HG01123.hp1 others(63): Show |
intron_variant | MODIFIER | c.991-389dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | INFO_REALIGN_3_PRIME | chrX | 108584073 | |||||
| chrX:108584073
|
T | TAA | 4 | a0001c0003t0001g0217a0002c0002t0001g0023a0005c0007t0001g0260others(1): Show | 4 | HG02647.hp1 HG04228.hp1 NA18967.hp1 others(1): Show |
intron_variant | MODIFIER | c.991-390_991-389dup others(2): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | INFO_REALIGN_3_PRIME | chrX | 108584073 | |||||
| chrX:108584073
|
T | TAAA | 4 | a0001c0003t0001g0218a0002c0004t0001g0263a0002c0004t0012g0072others(1): Show | 4 | HG02055.hp1 HG02145.hp1 HG02523.hp1 others(1): Show |
intron_variant | MODIFIER | c.991-391_991-389dup others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | INFO_REALIGN_3_PRIME | chrX | 108584073 | |||||
| chrX:108584073
|
T | TAAAA | 2 | a0002c0004t0002g0071a0002c0004t0002g0073 | 2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.991-392_991-389dup others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | INFO_REALIGN_3_PRIME | chrX | 108584073 | |||||
| chrX:108584073
|
TA | T | 8 | a0001c0001t0001g0086a0001c0001t0001g0099a0001c0001t0001g0101others(5): Show | 8 | HG01069.hp1 HG02015.hp1 HG03041.hp2 others(5): Show |
intron_variant | MODIFIER | c.991-389delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | INFO_REALIGN_3_PRIME | chrX | 108584073 | |||||
| chrX:108584110
|
G | T | 49 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(46): Show | 49 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(46): Show |
intron_variant | MODIFIER | c.991-374G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | chrX | 108584110 | ||||||
| chrX:108584288
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.991-196C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | chrX | 108584288 | ||||||
| chrX:108584310
|
C | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.991-174C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | chrX | 108584310 | ||||||
| chrX:108584550
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1032+25G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108584550 | ||||||
| chrX:108584607
|
T | C | 1 | a0001c0001t0008g0181 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1032+82T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108584607 | ||||||
| chrX:108584846
|
AAAC | A | 1 | a0002c0002t0001g0029 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.1032+333_1032+335d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | INFO_REALIGN_3_PRIME | chrX | 108584846 | |||||
| chrX:108584884
|
T | C | 1 | a0001c0001t0001g0243 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.1032+359T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108584884 | ||||||
| chrX:108585102
|
A | G | 1 | a0001c0001t0001g0243 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.1032+577A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108585102 | ||||||
| chrX:108585227
|
C | T | 1 | a0001c0001t0001g0189 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.1032+702C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108585227 | ||||||
| chrX:108585603
|
A | T | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.1033-1012A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108585603 | ||||||
| chrX:108585777
|
G | T | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1033-838G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108585777 | ||||||
| chrX:108586168
|
AAC | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1033-435_1033-434d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | INFO_REALIGN_3_PRIME | chrX | 108586168 | |||||
| chrX:108586275
|
A | G | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.1033-340A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108586275 | ||||||
| chrX:108586317
|
G | A | 7 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(4): Show | 7 | HG01106.hp1 HG01884.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.1033-298G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108586317 | ||||||
| chrX:108586344
|
G | A | 2 | a0002c0002t0001g0020a0002c0002t0001g0021 | 2 | HG01975.hp2 HG01978.hp2 |
intron_variant | MODIFIER | c.1033-271G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108586344 | ||||||
| chrX:108586361
|
G | A | 2 | a0001c0001t0001g0120a0001c0001t0001g0130 | 2 | HG01081.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.1033-254G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108586361 | ||||||
| chrX:108586421
|
C | G | 1 | a0001c0001t0001g0194 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1033-194C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108586421 | ||||||
| chrX:108586543
|
C | T | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.1033-72C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108586543 | ||||||
| chrX:108586945
|
G | A | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.1165+198G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108586945 | ||||||
| chrX:108586982
|
AT | A | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.1165+241delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | INFO_REALIGN_3_PRIME | chrX | 108586982 | |||||
| chrX:108587045
|
C | A | 182 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(179): Show | 182 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(179): Show |
intron_variant | MODIFIER | c.1165+298C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108587045 | ||||||
| chrX:108587053
|
T | G | 4 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0081others(1): Show | 4 | HG00558.hp2 HG00609.hp1 NA18948.hp1 others(1): Show |
intron_variant | MODIFIER | c.1165+306T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108587053 | ||||||
| chrX:108587292
|
A | ACCATCAT others(14): Show |
56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1165+550_1165+570d others(23): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | INFO_REALIGN_3_PRIME | chrX | 108587292 | |||||
| chrX:108587323
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1165+576C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108587323 | ||||||
| chrX:108587326
|
C | CT | 47 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(44): Show | 47 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(44): Show |
intron_variant | MODIFIER | c.1165+590dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | INFO_REALIGN_3_PRIME | chrX | 108587326 | |||||
| chrX:108587326
|
C | CTT | 1 | a0002c0002t0001g0041 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1165+589_1165+590d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | INFO_REALIGN_3_PRIME | chrX | 108587326 | |||||
| chrX:108587326
|
CT | C | 1 | a0001c0001t0001g0046 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1165+590delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | INFO_REALIGN_3_PRIME | chrX | 108587326 | |||||
| chrX:108587565
|
T | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1165+818T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108587565 | ||||||
| chrX:108588041
|
C | T | 1 | a0001c0001t0001g0074 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1165+1294C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108588041 | ||||||
| chrX:108588131
|
C | T | 1 | a0002c0002t0001g0066 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1165+1384C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108588131 | ||||||
| chrX:108588289
|
A | G | 1 | a0001c0001t0001g0195 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1165+1542A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108588289 | ||||||
| chrX:108588319
|
C | G | 2 | a0001c0001t0001g0156a0001c0001t0001g0241 | 2 | HG03704.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.1165+1572C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108588319 | ||||||
| chrX:108588584
|
G | C | 3 | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0099 | 3 | NA18979.hp2 NA18982.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.1165+1837G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108588584 | ||||||
| chrX:108588634
|
A | C | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1165+1887A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108588634 | ||||||
| chrX:108588662
|
T | C | 1 | a0001c0001t0001g0253 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.1165+1915T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108588662 | ||||||
| chrX:108588785
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1165+2038A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108588785 | ||||||
| chrX:108588923
|
T | C | 2 | a0001c0001t0001g0061a0001c0001t0001g0064 | 2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1166-2135T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108588923 | ||||||
| chrX:108589063
|
T | G | 1 | a0001c0001t0001g0187 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.1166-1995T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108589063 | ||||||
| chrX:108589085
|
TA | T | 1 | a0003c0005t0001g0112 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.1166-1968delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | INFO_REALIGN_3_PRIME | chrX | 108589085 | |||||
| chrX:108589465
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1166-1593G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108589465 | ||||||
| chrX:108589475
|
T | G | 1 | a0001c0001t0001g0146 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1166-1583T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108589475 | ||||||
| chrX:108589713
|
C | A | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1166-1345C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108589713 | ||||||
| chrX:108589780
|
A | G | 1 | a0001c0001t0001g0251 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1166-1278A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108589780 | ||||||
| chrX:108589810
|
G | A | 1 | a0001c0001t0006g0205 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1166-1248G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108589810 | ||||||
| chrX:108589875
|
G | C | 1 | a0002c0002t0001g0034 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.1166-1183G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108589875 | ||||||
| chrX:108590019
|
C | A | 1 | a0001c0001t0001g0122 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.1166-1039C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108590019 | ||||||
| chrX:108590294
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1166-764G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108590294 | ||||||
| chrX:108590480
|
T | C | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1166-578T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108590480 | ||||||
| chrX:108590507
|
C | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1166-551C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108590507 | ||||||
| chrX:108591263
|
T | G | 2 | a0002c0002t0001g0013a0002c0002t0001g0025 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.1339+32T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 20/52 | chrX | 108591263 | ||||||
| chrX:108591406
|
T | C | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1340-155T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 20/52 | chrX | 108591406 | ||||||
| chrX:108591412
|
A | G | 3 | a0001c0001t0001g0001a0001c0001t0001g0183a0001c0001t0001g0189 | 3 | HG00423.hp1 HG02056.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.1340-149A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 20/52 | chrX | 108591412 | ||||||
| chrX:108591773
|
C | T | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.1423+129C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108591773 | ||||||
| chrX:108591843
|
C | T | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.1423+199C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108591843 | ||||||
| chrX:108592167
|
A | T | 2 | a0001c0001t0001g0057a0001c0001t0001g0172 | 2 | HG02132.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.1423+523A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108592167 | ||||||
| chrX:108592386
|
C | T | 1 | a0001c0001t0001g0196 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.1423+742C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108592386 | ||||||
| chrX:108592558
|
C | T | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1423+914C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108592558 | ||||||
| chrX:108592728
|
G | GT | 1 | a0001c0001t0001g0146 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1423+1096dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chrX | 108592728 | |||||
| chrX:108592728
|
GT | G | 58 | a0001c0001t0001g0183a0001c0001t0001g0254a0002c0002t0001g0002others(55): Show | 58 | HG00738.hp1 HG01975.hp2 HG01978.hp2 others(55): Show |
intron_variant | MODIFIER | c.1423+1096delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chrX | 108592728 | |||||
| chrX:108592763
|
A | ATG | 1 | a0001c0001t0001g0084 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.1423+1135_1423+113 others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chrX | 108592763 | |||||
| chrX:108592968
|
G | T | 3 | a0004c0006t0001g0244a0004c0006t0001g0245a0004c0006t0001g0246 | 3 | NA18988.hp1 NA18990.hp1 NA19003.hp1 |
intron_variant | MODIFIER | c.1423+1324G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108592968 | ||||||
| chrX:108593269
|
G | A | 1 | a0001c0001t0001g0043 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.1423+1625G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108593269 | ||||||
| chrX:108593501
|
A | G | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.1423+1857A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108593501 | ||||||
| chrX:108593533
|
C | T | 2 | a0002c0002t0001g0068a0002c0002t0001g0069 | 2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.1423+1889C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108593533 | ||||||
| chrX:108593666
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1424-1843A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108593666 | ||||||
| chrX:108594264
|
G | A | 1 | a0001c0001t0001g0095 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1424-1245G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108594264 | ||||||
| chrX:108594324
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1424-1185T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108594324 | ||||||
| chrX:108594593
|
C | T | 2 | a0002c0002t0001g0017a0002c0002t0001g0018 | 2 | NA18957.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.1424-916C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108594593 | ||||||
| chrX:108594662
|
G | A | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.1424-847G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108594662 | ||||||
| chrX:108594772
|
C | G | 1 | a0001c0001t0001g0241 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1424-737C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108594772 | ||||||
| chrX:108594835
|
A | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1424-674A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108594835 | ||||||
| chrX:108595006
|
A | G | 1 | a0001c0001t0001g0174 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1424-503A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108595006 | ||||||
| chrX:108595038
|
T | G | 1 | a0001c0001t0001g0202 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1424-471T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108595038 | ||||||
| chrX:108595162
|
C | T | 1 | a0001c0001t0001g0231 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.1424-347C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108595162 | ||||||
| chrX:108595642
|
C | T | 1 | a0001c0001t0001g0179 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.1516+41C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 22/52 | chrX | 108595642 | ||||||
| chrX:108596047
|
C | A | 3 | a0001c0001t0001g0190a0001c0001t0001g0192a0001c0001t0001g0238 | 3 | HG01167.hp1 HG01169.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1516+446C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 22/52 | chrX | 108596047 | ||||||
| chrX:108596049
|
A | C | 52 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(49): Show | 52 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(49): Show |
intron_variant | MODIFIER | c.1516+448A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 22/52 | chrX | 108596049 | ||||||
| chrX:108596433
|
A | G | 1 | a0001c0001t0001g0197 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1517-565A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 22/52 | chrX | 108596433 | ||||||
| chrX:108596483
|
G | T | 1 | a0001c0001t0001g0116 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.1517-515G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 22/52 | chrX | 108596483 | ||||||
| chrX:108596519
|
C | T | 1 | a0001c0001t0001g0116 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.1517-479C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 22/52 | chrX | 108596519 | ||||||
| chrX:108596592
|
A | G | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.1517-406A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 22/52 | chrX | 108596592 | ||||||
| chrX:108596954
|
C | T | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.1517-44C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 22/52 | chrX | 108596954 | ||||||
| chrX:108597204
|
A | G | 98 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(95): Show | 98 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(95): Show |
intron_variant | MODIFIER | c.1587+136A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 23/52 | chrX | 108597204 | ||||||
| chrX:108597698
|
A | G | 2 | a0001c0001t0001g0187a0001c0001t0001g0235 | 2 | HG00735.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.1779+130A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 24/52 | chrX | 108597698 | ||||||
| chrX:108597755
|
A | G | 1 | a0001c0001t0001g0056 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1779+187A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 24/52 | chrX | 108597755 | ||||||
| chrX:108597956
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1779+388T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 24/52 | chrX | 108597956 | ||||||
| chrX:108597959
|
G | C | 1 | a0001c0001t0001g0137 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1779+391G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 24/52 | chrX | 108597959 | ||||||
| chrX:108598047
|
C | T | 1 | a0002c0002t0001g0039 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1779+479C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 24/52 | chrX | 108598047 | ||||||
| chrX:108598063
|
C | T | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.1779+495C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 24/52 | chrX | 108598063 | ||||||
| chrX:108598115
|
C | G | 1 | a0002c0002t0001g0006 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1779+547C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 24/52 | chrX | 108598115 | ||||||
| chrX:108598280
|
C | T | 1 | a0002c0009t0001g0009 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1780-422C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 24/52 | chrX | 108598280 | ||||||
| chrX:108598384
|
G | T | 3 | a0001c0001t0001g0076a0001c0001t0001g0106a0001c0001t0001g0107 | 3 | HG01069.hp1 HG01071.hp2 HG03688.hp1 |
intron_variant | MODIFIER | c.1780-318G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 24/52 | chrX | 108598384 | ||||||
| chrX:108598455
|
G | A | 49 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(46): Show | 49 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(46): Show |
intron_variant | MODIFIER | c.1780-247G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 24/52 | chrX | 108598455 | ||||||
| chrX:108599035
|
GT | G | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.1948+168delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | INFO_REALIGN_3_PRIME | chrX | 108599035 | |||||
| chrX:108599086
|
C | A | 1 | a0001c0001t0001g0051 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1948+216C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599086 | ||||||
| chrX:108599188
|
C | A | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.1948+318C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599188 | ||||||
| chrX:108599246
|
G | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1948+376G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599246 | ||||||
| chrX:108599291
|
G | A | 1 | a0001c0001t0001g0138 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.1948+421G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599291 | ||||||
| chrX:108599457
|
A | ATG | 110 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(107): Show | 110 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(107): Show |
intron_variant | MODIFIER | c.1948+607_1948+608d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | INFO_REALIGN_3_PRIME | chrX | 108599457 | |||||
| chrX:108599457
|
A | ATGTG | 41 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(38): Show | 41 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(38): Show |
intron_variant | MODIFIER | c.1948+605_1948+608d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | INFO_REALIGN_3_PRIME | chrX | 108599457 | |||||
| chrX:108599457
|
A | ATGTGTG | 8 | a0002c0002t0001g0011a0002c0002t0001g0035a0002c0002t0001g0036others(5): Show | 8 | HG02723.hp2 HG02818.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.1948+603_1948+608d others(8): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | INFO_REALIGN_3_PRIME | chrX | 108599457 | |||||
| chrX:108599503
|
G | T | 2 | a0004c0006t0001g0244a0004c0006t0001g0245 | 2 | NA18988.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.1948+633G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599503 | ||||||
| chrX:108599553
|
T | G | 1 | a0001c0001t0001g0093 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1948+683T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599553 | ||||||
| chrX:108599761
|
G | T | 6 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0080others(3): Show | 6 | HG00558.hp2 HG00609.hp1 NA18947.hp2 others(3): Show |
intron_variant | MODIFIER | c.1948+891G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599761 | ||||||
| chrX:108599796
|
G | A | 1 | a0001c0001t0001g0194 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1948+926G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599796 | ||||||
| chrX:108599840
|
A | G | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.1948+970A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599840 | ||||||
| chrX:108599868
|
A | G | 1 | a0014c0008t0001g0162 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1948+998A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599868 | ||||||
| chrX:108599933
|
A | G | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.1948+1063A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599933 | ||||||
| chrX:108600129
|
A | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1948+1259A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108600129 | ||||||
| chrX:108600395
|
G | A | 1 | a0012c0011t0001g0201 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1949-998G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108600395 | ||||||
| chrX:108600400
|
C | CT | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1949-985dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | INFO_REALIGN_3_PRIME | chrX | 108600400 | |||||
| chrX:108600642
|
TTAGA | T | 191 | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0044others(188): Show | 191 | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(188): Show |
intron_variant | MODIFIER | c.1949-705_1949-702d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | INFO_REALIGN_3_PRIME | chrX | 108600642 | |||||
| chrX:108600642
|
TTAGATAG others(1): Show |
T | 38 | a0001c0001t0001g0056a0001c0001t0001g0058a0001c0001t0001g0088others(35): Show | 38 | HG00408.hp1 HG00733.hp2 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.1949-709_1949-702d others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | INFO_REALIGN_3_PRIME | chrX | 108600642 | |||||
| chrX:108600642
|
TTAGATAG others(5): Show |
T | 2 | a0001c0001t0001g0136a0001c0001t0001g0253 | 2 | HG00408.hp2 NA18952.hp1 |
intron_variant | MODIFIER | c.1949-713_1949-702d others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | INFO_REALIGN_3_PRIME | chrX | 108600642 | |||||
| chrX:108600824
|
C | G | 1 | a0001c0001t0001g0098 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.1949-569C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108600824 | ||||||
| chrX:108600993
|
T | A | 1 | a0001c0001t0001g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1949-400T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108600993 | ||||||
| chrX:108601000
|
A | T | 2 | a0001c0001t0001g0061a0001c0001t0001g0064 | 2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1949-393A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108601000 | ||||||
| chrX:108601205
|
T | C | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.1949-188T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108601205 | ||||||
| chrX:108601528
|
C | CT | 40 | a0001c0001t0001g0082a0001c0001t0001g0134a0001c0001t0001g0187others(37): Show | 40 | HG01071.hp1 HG01975.hp2 HG01978.hp2 others(37): Show |
intron_variant | MODIFIER | c.2041+61dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 26/52 | INFO_REALIGN_3_PRIME | chrX | 108601528 | |||||
| chrX:108601528
|
CT | C | 9 | a0001c0001t0001g0074a0001c0001t0001g0152a0001c0001t0001g0160others(6): Show | 9 | HG01169.hp1 HG02451.hp2 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.2041+61delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 26/52 | INFO_REALIGN_3_PRIME | chrX | 108601528 | |||||
| chrX:108601550
|
A | G | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.2041+65A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 26/52 | chrX | 108601550 | ||||||
| chrX:108601650
|
C | A | 1 | a0001c0001t0006g0205 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2041+165C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 26/52 | chrX | 108601650 | ||||||
| chrX:108602621
|
A | AG | 1 | a0001c0001t0001g0160 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.2147-341dupG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 27/52 | INFO_REALIGN_3_PRIME | chrX | 108602621 | |||||
| chrX:108602747
|
G | A | 1 | a0001c0001t0001g0149 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2147-217G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 27/52 | chrX | 108602747 | ||||||
| chrX:108602919
|
A | C | 1 | a0001c0001t0010g0198 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.2147-45A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 27/52 | chrX | 108602919 | ||||||
| chrX:108602952
|
A | G | 2 | a0001c0001t0008g0181a0001c0001t0009g0210 | 2 | HG02683.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.2147-12A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 27/52 | chrX | 108602952 | ||||||
| chrX:108603070
|
C | T | 1 | a0001c0001t0001g0166 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2244+9C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108603070 | ||||||
| chrX:108603218
|
C | T | 2 | a0001c0001t0001g0177a0001c0001t0001g0236 | 2 | HG00423.hp2 NA18941.hp2 |
intron_variant | MODIFIER | c.2244+157C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108603218 | ||||||
| chrX:108603257
|
C | CA | 11 | a0001c0001t0001g0074a0001c0001t0001g0087a0001c0001t0001g0145others(8): Show | 11 | HG01123.hp2 HG02647.hp1 HG02683.hp1 others(8): Show |
intron_variant | MODIFIER | c.2244+216dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | INFO_REALIGN_3_PRIME | chrX | 108603257 | |||||
| chrX:108603257
|
C | CAA | 1 | a0001c0003t0001g0218 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2244+215_2244+216d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | INFO_REALIGN_3_PRIME | chrX | 108603257 | |||||
| chrX:108603257
|
CA | C | 8 | a0001c0001t0001g0120a0001c0001t0001g0164a0001c0001t0001g0188others(5): Show | 8 | HG01081.hp1 HG01123.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.2244+216delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | INFO_REALIGN_3_PRIME | chrX | 108603257 | |||||
| chrX:108603257
|
CAA | C | 6 | a0002c0002t0001g0030a0002c0004t0001g0263a0002c0009t0001g0009others(3): Show | 6 | HG02055.hp1 HG02523.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.2244+215_2244+216d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | INFO_REALIGN_3_PRIME | chrX | 108603257 | |||||
| chrX:108603257
|
CAAA | C | 47 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(44): Show | 47 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(44): Show |
intron_variant | MODIFIER | c.2244+214_2244+216d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | INFO_REALIGN_3_PRIME | chrX | 108603257 | |||||
| chrX:108603272
|
A | C | 2 | a0002c0002t0001g0020a0002c0002t0001g0021 | 2 | HG01975.hp2 HG01978.hp2 |
intron_variant | MODIFIER | c.2244+211A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108603272 | ||||||
| chrX:108604150
|
C | A | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.2244+1089C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108604150 | ||||||
| chrX:108604150
|
C | G | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2244+1089C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108604150 | ||||||
| chrX:108604324
|
G | C | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2244+1263G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108604324 | ||||||
| chrX:108604790
|
A | G | 3 | a0004c0006t0001g0244a0004c0006t0001g0245a0004c0006t0001g0246 | 3 | NA18988.hp1 NA18990.hp1 NA19003.hp1 |
intron_variant | MODIFIER | c.2244+1729A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108604790 | ||||||
| chrX:108605083
|
G | A | 3 | a0002c0002t0001g0003a0002c0002t0001g0026a0002c0002t0001g0030 | 3 | NA18981.hp2 NA19085.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.2245-1659G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108605083 | ||||||
| chrX:108605171
|
T | C | 1 | a0001c0001t0001g0251 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2245-1571T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108605171 | ||||||
| chrX:108605325
|
T | C | 1 | a0001c0001t0001g0064 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2245-1417T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108605325 | ||||||
| chrX:108605458
|
A | AC | 2 | a0001c0001t0001g0056a0001c0001t0001g0144 | 2 | HG01934.hp1 HG02071.hp1 |
intron_variant | MODIFIER | c.2245-1280dupC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | INFO_REALIGN_3_PRIME | chrX | 108605458 | |||||
| chrX:108605602
|
G | A | 2 | a0001c0001t0001g0061a0001c0001t0001g0064 | 2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.2245-1140G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108605602 | ||||||
| chrX:108605847
|
T | C | 1 | a0001c0001t0009g0210 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.2245-895T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108605847 | ||||||
| chrX:108605874
|
C | T | 1 | a0001c0003t0007g0220 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2245-868C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108605874 | ||||||
| chrX:108606010
|
C | T | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.2245-732C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108606010 | ||||||
| chrX:108606015
|
C | T | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2245-727C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108606015 | ||||||
| chrX:108606106
|
C | T | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.2245-636C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108606106 | ||||||
| chrX:108606196
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2245-546A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108606196 | ||||||
| chrX:108606197
|
T | C | 1 | a0002c0004t0001g0263 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2245-545T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108606197 | ||||||
| chrX:108606499
|
G | GT | 39 | a0001c0001t0001g0137a0002c0002t0001g0003a0002c0002t0001g0012others(36): Show | 39 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(36): Show |
intron_variant | MODIFIER | c.2245-231dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | INFO_REALIGN_3_PRIME | chrX | 108606499 | |||||
| chrX:108606598
|
C | T | 18 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(15): Show | 18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.2245-144C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108606598 | ||||||
| chrX:108607090
|
G | A | 1 | a0001c0001t0001g0137 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.2395+198G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108607090 | ||||||
| chrX:108607105
|
T | G | 224 | a0001c0001t0001g0001a0001c0001t0001g0045a0001c0001t0001g0046others(221): Show | 224 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(221): Show |
intron_variant | MODIFIER | c.2395+213T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108607105 | ||||||
| chrX:108607224
|
G | A | 1 | a0001c0001t0001g0160 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.2395+332G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108607224 | ||||||
| chrX:108607350
|
C | CA | 105 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0048others(102): Show | 105 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(102): Show |
intron_variant | MODIFIER | c.2395+475dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | INFO_REALIGN_3_PRIME | chrX | 108607350 | |||||
| chrX:108607350
|
C | CAA | 4 | a0001c0001t0001g0045a0001c0001t0001g0145a0001c0001t0001g0151others(1): Show | 4 | HG02074.hp1 HG02080.hp1 HG02080.hp2 others(1): Show |
intron_variant | MODIFIER | c.2395+474_2395+475d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | INFO_REALIGN_3_PRIME | chrX | 108607350 | |||||
| chrX:108607350
|
CA | C | 7 | a0001c0001t0001g0074a0001c0001t0001g0124a0001c0001t0001g0152others(4): Show | 7 | HG02451.hp2 HG02630.hp2 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.2395+475delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | INFO_REALIGN_3_PRIME | chrX | 108607350 | |||||
| chrX:108607368
|
C | A | 1 | a0001c0001t0001g0051 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.2395+476C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108607368 | ||||||
| chrX:108607740
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2395+848T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108607740 | ||||||
| chrX:108607907
|
T | G | 4 | a0001c0001t0001g0074a0001c0001t0001g0152a0001c0001t0001g0168others(1): Show | 4 | HG02451.hp2 HG02809.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.2395+1015T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108607907 | ||||||
| chrX:108607946
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2395+1054G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108607946 | ||||||
| chrX:108607993
|
T | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2395+1101T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108607993 | ||||||
| chrX:108608388
|
C | T | 7 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(4): Show | 7 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.2395+1496C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108608388 | ||||||
| chrX:108608452
|
C | G | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.2395+1560C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108608452 | ||||||
| chrX:108608687
|
A | G | 184 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(181): Show | 184 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(181): Show |
intron_variant | MODIFIER | c.2395+1795A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108608687 | ||||||
| chrX:108608720
|
G | C | 1 | a0001c0001t0001g0117 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.2395+1828G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108608720 | ||||||
| chrX:108608872
|
C | T | 4 | a0001c0001t0001g0184a0001c0001t0001g0186a0001c0001t0001g0193others(1): Show | 4 | HG00140.hp1 HG01074.hp1 HG01123.hp2 others(1): Show |
intron_variant | MODIFIER | c.2395+1980C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108608872 | ||||||
| chrX:108608873
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2395+1981T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108608873 | ||||||
| chrX:108608928
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2395+2036G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108608928 | ||||||
| chrX:108609103
|
A | G | 49 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(46): Show | 49 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(46): Show |
intron_variant | MODIFIER | c.2395+2211A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108609103 | ||||||
| chrX:108609778
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2395+2886C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108609778 | ||||||
| chrX:108609934
|
C | T | 1 | a0001c0001t0001g0224 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.2395+3042C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108609934 | ||||||
| chrX:108609963
|
T | A | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.2395+3071T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108609963 | ||||||
| chrX:108609964
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2395+3072A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108609964 | ||||||
| chrX:108609969
|
T | TA | 11 | a0001c0001t0001g0045a0001c0001t0001g0101a0001c0001t0001g0105others(8): Show | 11 | HG02055.hp1 HG02074.hp1 HG02080.hp2 others(8): Show |
intron_variant | MODIFIER | c.2395+3091dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | INFO_REALIGN_3_PRIME | chrX | 108609969 | |||||
| chrX:108609969
|
T | TAA | 1 | a0001c0001t0001g0167 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2395+3090_2395+309 others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | INFO_REALIGN_3_PRIME | chrX | 108609969 | |||||
| chrX:108609981
|
A | C | 1 | a0001c0001t0001g0194 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2395+3089A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108609981 | ||||||
| chrX:108610385
|
G | A | 1 | a0001c0001t0001g0161 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.2395+3493G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108610385 | ||||||
| chrX:108610427
|
TA | T | 1 | a0002c0002t0001g0019 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.2395+3542delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | INFO_REALIGN_3_PRIME | chrX | 108610427 | |||||
| chrX:108610543
|
A | C | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.2395+3651A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108610543 | ||||||
| chrX:108610858
|
G | T | 2 | a0001c0001t0001g0258a0001c0001t0001g0259 | 2 | HG01258.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.2395+3966G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108610858 | ||||||
| chrX:108611223
|
A | G | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.2396-3688A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108611223 | ||||||
| chrX:108611294
|
T | C | 1 | a0001c0001t0001g0159 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2396-3617T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108611294 | ||||||
| chrX:108611485
|
A | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2396-3426A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108611485 | ||||||
| chrX:108611525
|
A | G | 1 | a0001c0001t0001g0166 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2396-3386A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108611525 | ||||||
| chrX:108611575
|
C | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2396-3336C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108611575 | ||||||
| chrX:108611617
|
G | A | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.2396-3294G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108611617 | ||||||
| chrX:108611619
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2396-3292C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108611619 | ||||||
| chrX:108611751
|
C | G | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2396-3160C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108611751 | ||||||
| chrX:108611911
|
G | C | 1 | a0001c0001t0001g0094 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.2396-3000G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108611911 | ||||||
| chrX:108612346
|
G | A | 1 | a0001c0001t0001g0105 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.2396-2565G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108612346 | ||||||
| chrX:108612368
|
T | C | 8 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(5): Show | 8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.2396-2543T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108612368 | ||||||
| chrX:108612901
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2396-2010G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108612901 | ||||||
| chrX:108613397
|
A | T | 26 | a0002c0002t0001g0003a0002c0002t0001g0012a0002c0002t0001g0013others(23): Show | 26 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(23): Show |
intron_variant | MODIFIER | c.2396-1514A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108613397 | ||||||
| chrX:108613569
|
C | A | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.2396-1342C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108613569 | ||||||
| chrX:108613716
|
G | A | 1 | a0001c0001t0001g0195 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2396-1195G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108613716 | ||||||
| chrX:108614186
|
G | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2396-725G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108614186 | ||||||
| chrX:108614191
|
C | T | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2396-720C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108614191 | ||||||
| chrX:108614286
|
C | T | 3 | a0001c0001t0001g0060a0001c0001t0004g0059a0002c0002t0001g0070 | 3 | HG02897.hp2 NA18906.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.2396-625C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108614286 | ||||||
| chrX:108614542
|
C | T | 1 | a0001c0001t0001g0159 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2396-369C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108614542 | ||||||
| chrX:108614806
|
A | G | 1 | a0001c0001t0001g0129 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.2396-105A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108614806 | ||||||
| chrX:108615074
|
T | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2509+50T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108615074 | ||||||
| chrX:108615122
|
A | G | 1 | a0001c0001t0001g0167 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2509+98A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108615122 | ||||||
| chrX:108615169
|
T | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2509+145T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108615169 | ||||||
| chrX:108615330
|
T | C | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2509+306T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108615330 | ||||||
| chrX:108615697
|
A | G | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2509+673A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108615697 | ||||||
| chrX:108615709
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2509+685G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108615709 | ||||||
| chrX:108615822
|
C | T | 8 | a0002c0002t0001g0011a0002c0002t0001g0035a0002c0002t0001g0036others(5): Show | 8 | HG02723.hp2 HG02818.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.2509+798C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108615822 | ||||||
| chrX:108615871
|
T | G | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.2509+847T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108615871 | ||||||
| chrX:108615874
|
A | G | 8 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(5): Show | 8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.2509+850A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108615874 | ||||||
| chrX:108616095
|
TG | T | 2 | a0001c0001t0001g0206a0001c0001t0001g0208 | 2 | HG01243.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.2509+1072delG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108616095 | ||||||
| chrX:108616160
|
T | C | 1 | a0001c0001t0001g0182 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.2509+1136T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108616160 | ||||||
| chrX:108616215
|
G | GT | 6 | a0002c0002t0001g0036a0002c0002t0001g0037a0002c0004t0001g0263others(3): Show | 6 | HG02055.hp1 HG02523.hp1 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.2509+1201dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | INFO_REALIGN_3_PRIME | chrX | 108616215 | |||||
| chrX:108616216
|
T | G | 2 | a0001c0001t0001g0057a0001c0001t0001g0172 | 2 | HG02132.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.2509+1192T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108616216 | ||||||
| chrX:108616223
|
T | G | 4 | a0002c0002t0001g0041a0002c0004t0002g0071a0002c0004t0002g0073others(1): Show | 4 | HG02622.hp1 HG03486.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.2509+1199T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108616223 | ||||||
| chrX:108616225
|
TG | T | 3 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0143 | 3 | NA18953.hp1 NA19063.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.2509+1202delG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108616225 | ||||||
| chrX:108616226
|
G | T | 108 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(105): Show | 108 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(105): Show |
intron_variant | MODIFIER | c.2509+1202G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108616226 | ||||||
| chrX:108616241
|
T | G | 4 | a0001c0003t0001g0216a0001c0003t0001g0217a0001c0003t0001g0218others(1): Show | 4 | HG02145.hp1 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.2509+1217T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108616241 | ||||||
| chrX:108616257
|
T | G | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.2509+1233T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108616257 | ||||||
| chrX:108616616
|
A | G | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.2509+1592A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108616616 | ||||||
| chrX:108616958
|
A | G | 7 | a0001c0001t0001g0051a0001c0001t0001g0074a0001c0001t0001g0124others(4): Show | 7 | HG02257.hp1 HG02451.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.2509+1934A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108616958 | ||||||
| chrX:108617257
|
G | A | 30 | a0002c0002t0001g0003a0002c0002t0001g0012a0002c0002t0001g0013others(27): Show | 30 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(27): Show |
intron_variant | MODIFIER | c.2509+2233G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108617257 | ||||||
| chrX:108617529
|
A | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2509+2505A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108617529 | ||||||
| chrX:108617555
|
C | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2509+2531C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108617555 | ||||||
| chrX:108617645
|
T | C | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.2510-2614T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108617645 | ||||||
| chrX:108617703
|
C | T | 1 | a0001c0001t0001g0193 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.2510-2556C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108617703 | ||||||
| chrX:108617939
|
G | A | 1 | a0001c0001t0001g0178 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.2510-2320G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108617939 | ||||||
| chrX:108617989
|
G | A | 1 | a0002c0004t0001g0263 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2510-2270G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108617989 | ||||||
| chrX:108618004
|
T | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2510-2255T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108618004 | ||||||
| chrX:108618192
|
T | G | 1 | a0002c0002t0001g0014 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.2510-2067T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108618192 | ||||||
| chrX:108618426
|
T | A | 3 | a0001c0001t0001g0001a0001c0001t0001g0183a0001c0001t0001g0189 | 3 | HG00423.hp1 HG02056.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.2510-1833T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108618426 | ||||||
| chrX:108618459
|
A | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2510-1800A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108618459 | ||||||
| chrX:108619021
|
G | A | 1 | a0001c0001t0001g0169 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2510-1238G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108619021 | ||||||
| chrX:108619050
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2510-1209G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108619050 | ||||||
| chrX:108619150
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2510-1109C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108619150 | ||||||
| chrX:108619214
|
T | C | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.2510-1045T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108619214 | ||||||
| chrX:108619324
|
A | T | 1 | a0001c0001t0001g0170 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.2510-935A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108619324 | ||||||
| chrX:108619362
|
T | C | 1 | a0001c0001t0001g0087 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.2510-897T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108619362 | ||||||
| chrX:108619403
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2510-856A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108619403 | ||||||
| chrX:108619567
|
T | C | 2 | a0001c0001t0001g0061a0001c0001t0001g0064 | 2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.2510-692T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108619567 | ||||||
| chrX:108619862
|
A | G | 1 | a0005c0007t0001g0260 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.2510-397A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108619862 | ||||||
| chrX:108620063
|
T | A | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.2510-196T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108620063 | ||||||
| chrX:108620073
|
C | A | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.2510-186C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108620073 | ||||||
| chrX:108620522
|
C | T | 1 | a0001c0001t0001g0221 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2677+96C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 31/52 | chrX | 108620522 | ||||||
| chrX:108620655
|
A | G | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.2677+229A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 31/52 | chrX | 108620655 | ||||||
| chrX:108620913
|
C | A | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.2677+487C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 31/52 | chrX | 108620913 | ||||||
| chrX:108621018
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2677+592T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 31/52 | chrX | 108621018 | ||||||
| chrX:108621093
|
T | C | 9 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(6): Show | 9 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.2677+667T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 31/52 | chrX | 108621093 | ||||||
| chrX:108621143
|
CTCCT | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2678-649_2678-646d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 31/52 | INFO_REALIGN_3_PRIME | chrX | 108621143 | |||||
| chrX:108621157
|
CT | C | 2 | a0001c0001t0001g0158a0003c0005t0001g0109 | 2 | HG01515.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.2678-633delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 31/52 | INFO_REALIGN_3_PRIME | chrX | 108621157 | |||||
| chrX:108621459
|
C | G | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.2678-344C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 31/52 | chrX | 108621459 | ||||||
| chrX:108622170
|
C | A | 1 | a0001c0001t0001g0118 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.2767+278C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 32/52 | chrX | 108622170 | ||||||
| chrX:108622203
|
A | G | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2767+311A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 32/52 | chrX | 108622203 | ||||||
| chrX:108622468
|
G | A | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2768-208G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 32/52 | chrX | 108622468 | ||||||
| chrX:108622665
|
A | G | 58 | a0001c0001t0001g0045a0001c0001t0001g0048a0001c0001t0001g0049others(55): Show | 58 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(55): Show |
intron_variant | MODIFIER | c.2768-11A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 32/52 | chrX | 108622665 | ||||||
| chrX:108623212
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2917+387C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | chrX | 108623212 | ||||||
| chrX:108623225
|
GCTGTA | G | 1 | a0001c0003t0001g0218 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2917+404_2917+408d others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | INFO_REALIGN_3_PRIME | chrX | 108623225 | |||||
| chrX:108623226
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2917+401C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | chrX | 108623226 | ||||||
| chrX:108623269
|
A | T | 1 | a0001c0001t0001g0056 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.2917+444A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | chrX | 108623269 | ||||||
| chrX:108623421
|
A | G | 3 | a0001c0001t0001g0001a0001c0001t0001g0183a0001c0001t0001g0189 | 3 | HG00423.hp1 HG02056.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.2917+596A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | chrX | 108623421 | ||||||
| chrX:108623439
|
T | TA | 24 | a0001c0001t0001g0001a0001c0001t0001g0058a0001c0001t0001g0182others(21): Show | 24 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(21): Show |
intron_variant | MODIFIER | c.2917+624dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | INFO_REALIGN_3_PRIME | chrX | 108623439 | |||||
| chrX:108623439
|
T | TAA | 1 | a0001c0001t0001g0187 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.2917+623_2917+624d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | INFO_REALIGN_3_PRIME | chrX | 108623439 | |||||
| chrX:108623441
|
A | AC | 1 | a0012c0011t0001g0201 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.2917+616_2917+617i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | chrX | 108623441 | ||||||
| chrX:108623452
|
T | TTTTCC | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2917+630_2917+631i others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | INFO_REALIGN_3_PRIME | chrX | 108623452 | |||||
| chrX:108623486
|
C | T | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.2917+661C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | chrX | 108623486 | ||||||
| chrX:108623640
|
C | T | 1 | a0001c0001t0001g0155 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.2918-596C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | chrX | 108623640 | ||||||
| chrX:108623749
|
TA | T | 1 | a0001c0001t0001g0226 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.2918-482delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | INFO_REALIGN_3_PRIME | chrX | 108623749 | |||||
| chrX:108623916
|
A | T | 1 | a0001c0001t0001g0137 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.2918-320A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | chrX | 108623916 | ||||||
| chrX:108624013
|
G | A | 2 | a0001c0001t0001g0083a0001c0001t0001g0094 | 2 | HG01978.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.2918-223G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | chrX | 108624013 | ||||||
| chrX:108624068
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2918-168G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | chrX | 108624068 | ||||||
| chrX:108624510
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3016+176T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 34/52 | chrX | 108624510 | ||||||
| chrX:108624559
|
CT | C | 3 | a0001c0001t0001g0257a0001c0001t0001g0265a0001c0001t0001g0266 | 3 | HG01358.hp1 HG01981.hp2 HG02735.hp1 |
intron_variant | MODIFIER | c.3016+230delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 34/52 | INFO_REALIGN_3_PRIME | chrX | 108624559 | |||||
| chrX:108624969
|
G | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3016+635G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 34/52 | chrX | 108624969 | ||||||
| chrX:108625055
|
TC | T | 1 | a0013c0018t0001g0111 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.3017-648delC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 34/52 | INFO_REALIGN_3_PRIME | chrX | 108625055 | |||||
| chrX:108625079
|
GA | G | 2 | a0002c0002t0001g0036a0002c0002t0001g0037 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.3017-619delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 34/52 | INFO_REALIGN_3_PRIME | chrX | 108625079 | |||||
| chrX:108625335
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3017-370C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 34/52 | chrX | 108625335 | ||||||
| chrX:108625375
|
A | C | 107 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(104): Show | 107 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(104): Show |
intron_variant | MODIFIER | c.3017-330A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 34/52 | chrX | 108625375 | ||||||
| chrX:108626110
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3107-100G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 35/52 | chrX | 108626110 | ||||||
| chrX:108626113
|
G | C | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.3107-97G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 35/52 | chrX | 108626113 | ||||||
| chrX:108626199
|
A | T | 2 | a0002c0002t0001g0029a0002c0002t0001g0067 | 2 | NA18944.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.3107-11A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 35/52 | chrX | 108626199 | ||||||
| chrX:108626416
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+67A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108626416 | ||||||
| chrX:108626480
|
C | G | 2 | a0001c0003t0001g0216a0001c0003t0001g0217 | 2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3246+131C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108626480 | ||||||
| chrX:108626579
|
A | G | 2 | a0002c0002t0001g0068a0002c0002t0001g0069 | 2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.3246+230A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108626579 | ||||||
| chrX:108626838
|
C | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+489C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108626838 | ||||||
| chrX:108626881
|
A | ACAGG | 1 | a0013c0018t0001g0111 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.3246+533_3246+536d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108626881 | |||||
| chrX:108627051
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+702G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108627051 | ||||||
| chrX:108627196
|
TTC | T | 1 | a0001c0001t0001g0151 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.3246+851_3246+852d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108627196 | |||||
| chrX:108627246
|
T | TA | 1 | a0001c0001t0001g0226 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.3246+903dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108627246 | |||||
| chrX:108627271
|
G | A | 227 | a0001c0001t0001g0001a0001c0001t0001g0045a0001c0001t0001g0046others(224): Show | 227 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(224): Show |
intron_variant | MODIFIER | c.3246+922G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108627271 | ||||||
| chrX:108627336
|
A | G | 1 | a0001c0001t0001g0124 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3246+987A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108627336 | ||||||
| chrX:108627803
|
G | GT | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.3246+1458dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108627803 | |||||
| chrX:108627837
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+1488G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108627837 | ||||||
| chrX:108628031
|
A | G | 1 | a0001c0001t0001g0265 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.3246+1682A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108628031 | ||||||
| chrX:108628462
|
C | G | 1 | a0001c0001t0001g0125 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.3246+2113C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108628462 | ||||||
| chrX:108628548
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+2199C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108628548 | ||||||
| chrX:108628677
|
A | G | 1 | a0002c0002t0001g0035 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.3246+2328A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108628677 | ||||||
| chrX:108628729
|
G | A | 184 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(181): Show | 184 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(181): Show |
intron_variant | MODIFIER | c.3246+2380G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108628729 | ||||||
| chrX:108629187
|
A | AG | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.3246+2840dupG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108629187 | |||||
| chrX:108629202
|
AT | A | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.3246+2855delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108629202 | |||||
| chrX:108629210
|
TG | T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.3246+2866delG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108629210 | |||||
| chrX:108629451
|
G | A | 2 | a0001c0001t0001g0225a0001c0001t0001g0226 | 2 | NA18983.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.3246+3102G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108629451 | ||||||
| chrX:108629452
|
G | A | 1 | a0014c0008t0001g0162 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.3246+3103G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108629452 | ||||||
| chrX:108629744
|
G | A | 10 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(7): Show | 10 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.3246+3395G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108629744 | ||||||
| chrX:108629760
|
C | A | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3246+3411C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108629760 | ||||||
| chrX:108629840
|
G | C | 1 | a0001c0001t0001g0254 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.3246+3491G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108629840 | ||||||
| chrX:108629991
|
T | A | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3246+3642T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108629991 | ||||||
| chrX:108630017
|
A | T | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.3246+3668A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108630017 | ||||||
| chrX:108630044
|
A | G | 1 | a0002c0002t0001g0065 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.3246+3695A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108630044 | ||||||
| chrX:108630247
|
T | C | 1 | a0001c0001t0001g0122 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.3246+3898T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108630247 | ||||||
| chrX:108630647
|
C | T | 1 | a0001c0003t0007g0220 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3246+4298C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108630647 | ||||||
| chrX:108630683
|
G | A | 1 | a0002c0004t0001g0263 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.3246+4334G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108630683 | ||||||
| chrX:108630970
|
T | G | 8 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(5): Show | 8 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.3246+4621T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108630970 | ||||||
| chrX:108631259
|
T | C | 1 | a0001c0001t0001g0153 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.3246+4910T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108631259 | ||||||
| chrX:108631314
|
G | A | 1 | a0002c0002t0001g0011 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.3246+4965G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108631314 | ||||||
| chrX:108631385
|
G | T | 1 | a0001c0001t0011g0237 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.3246+5036G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108631385 | ||||||
| chrX:108631566
|
A | G | 1 | a0001c0001t0001g0188 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.3246+5217A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108631566 | ||||||
| chrX:108631596
|
G | A | 1 | a0001c0001t0001g0187 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.3246+5247G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108631596 | ||||||
| chrX:108631689
|
G | A | 1 | a0002c0002t0001g0065 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.3246+5340G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108631689 | ||||||
| chrX:108631744
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+5395T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108631744 | ||||||
| chrX:108631750
|
T | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+5401T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108631750 | ||||||
| chrX:108631959
|
G | T | 1 | a0001c0001t0001g0153 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.3246+5610G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108631959 | ||||||
| chrX:108632076
|
G | A | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3246+5727G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108632076 | ||||||
| chrX:108632119
|
G | A | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3246+5770G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108632119 | ||||||
| chrX:108632126
|
TA | T | 1 | a0003c0005t0001g0109 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.3246+5783delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108632126 | |||||
| chrX:108632164
|
G | C | 1 | a0001c0001t0001g0051 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.3246+5815G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108632164 | ||||||
| chrX:108632182
|
A | G | 1 | a0002c0002t0001g0033 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.3246+5833A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108632182 | ||||||
| chrX:108632204
|
A | G | 2 | a0001c0003t0001g0216a0001c0003t0001g0217 | 2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3246+5855A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108632204 | ||||||
| chrX:108632342
|
C | A | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.3246+5993C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108632342 | ||||||
| chrX:108632488
|
G | A | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3246+6139G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108632488 | ||||||
| chrX:108632950
|
G | A | 3 | a0001c0001t0001g0123a0001c0001t0001g0135a0001c0001t0001g0140 | 3 | NA18962.hp1 NA18977.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.3246+6601G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108632950 | ||||||
| chrX:108632956
|
C | T | 2 | a0005c0007t0001g0260a0005c0007t0001g0262 | 2 | HG02523.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.3246+6607C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108632956 | ||||||
| chrX:108633016
|
G | A | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3246+6667G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108633016 | ||||||
| chrX:108633296
|
C | A | 1 | a0001c0001t0001g0188 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.3246+6947C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108633296 | ||||||
| chrX:108633343
|
G | GT | 1 | a0001c0001t0001g0105 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.3246+7001dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108633343 | |||||
| chrX:108633505
|
A | T | 1 | a0001c0001t0001g0138 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.3246+7156A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108633505 | ||||||
| chrX:108633656
|
A | C | 1 | a0014c0008t0001g0162 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.3246+7307A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108633656 | ||||||
| chrX:108633873
|
A | G | 1 | a0001c0001t0001g0092 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.3246+7524A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108633873 | ||||||
| chrX:108633908
|
T | G | 2 | a0001c0003t0001g0216a0001c0003t0001g0217 | 2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3246+7559T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108633908 | ||||||
| chrX:108634085
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+7736C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108634085 | ||||||
| chrX:108634212
|
A | AC | 1 | a0001c0001t0001g0137 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.3246+7864dupC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108634212 | |||||
| chrX:108634213
|
C | CA | 116 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(113): Show | 116 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(113): Show |
intron_variant | MODIFIER | c.3246+7879dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108634213 | |||||
| chrX:108634213
|
C | CAA | 41 | a0001c0001t0001g0129a0001c0001t0001g0173a0001c0001t0001g0227others(38): Show | 41 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(38): Show |
intron_variant | MODIFIER | c.3246+7878_3246+787 others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108634213 | |||||
| chrX:108634213
|
C | CAAA | 2 | a0002c0002t0001g0017a0002c0002t0001g0018 | 2 | NA18957.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.3246+7877_3246+787 others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108634213 | |||||
| chrX:108634213
|
CA | C | 2 | a0001c0001t0001g0064a0001c0001t0004g0059 | 2 | HG02897.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.3246+7879delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108634213 | |||||
| chrX:108634216
|
A | AAG | 1 | a0002c0002t0001g0065 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.3246+7868_3246+786 others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108634216 | |||||
| chrX:108634737
|
T | C | 1 | a0001c0003t0001g0218 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3246+8388T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108634737 | ||||||
| chrX:108634873
|
C | T | 8 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(5): Show | 8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.3246+8524C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108634873 | ||||||
| chrX:108635099
|
A | G | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3246+8750A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108635099 | ||||||
| chrX:108635244
|
G | A | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3246+8895G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108635244 | ||||||
| chrX:108635250
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+8901A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108635250 | ||||||
| chrX:108635302
|
G | A | 1 | a0001c0001t0001g0209 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.3246+8953G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108635302 | ||||||
| chrX:108635601
|
C | G | 1 | a0002c0002t0001g0006 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.3246+9252C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108635601 | ||||||
| chrX:108635773
|
C | CA | 1 | a0001c0001t0001g0105 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.3246+9428dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108635773 | |||||
| chrX:108635820
|
C | T | 1 | a0001c0001t0001g0150 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.3246+9471C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108635820 | ||||||
| chrX:108635922
|
G | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+9573G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108635922 | ||||||
| chrX:108636568
|
C | T | 1 | a0001c0001t0001g0108 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.3246+10219C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108636568 | ||||||
| chrX:108636879
|
A | G | 1 | a0001c0001t0001g0160 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.3246+10530A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108636879 | ||||||
| chrX:108636939
|
C | CT | 6 | a0001c0001t0001g0051a0001c0001t0001g0085a0001c0001t0001g0100others(3): Show | 6 | HG00408.hp1 HG02040.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.3246+10613dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108636939 | |||||
| chrX:108636939
|
CT | C | 5 | a0001c0001t0001g0061a0001c0001t0001g0064a0001c0001t0001g0192others(2): Show | 5 | HG01167.hp1 HG02976.hp2 NA18522.hp1 others(2): Show |
intron_variant | MODIFIER | c.3246+10613delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108636939 | |||||
| chrX:108636939
|
CTT | C | 1 | a0001c0001t0001g0247 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.3246+10612_3246+10 others(8): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108636939 | |||||
| chrX:108636939
|
CTTT | C | 29 | a0002c0002t0001g0003a0002c0002t0001g0012a0002c0002t0001g0013others(26): Show | 29 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(26): Show |
intron_variant | MODIFIER | c.3246+10611_3246+10 others(9): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108636939 | |||||
| chrX:108636939
|
CTTTT | C | 1 | a0002c0002t0001g0027 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.3246+10610_3246+10 others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108636939 | |||||
| chrX:108636939
|
CTTTTT | C | 18 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(15): Show | 18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.3246+10609_3246+10 others(11): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108636939 | |||||
| chrX:108636939
|
CTTTTTT | C | 8 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(5): Show | 8 | HG02055.hp1 HG02080.hp2 HG02523.hp1 others(5): Show |
intron_variant | MODIFIER | c.3246+10608_3246+10 others(12): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108636939 | |||||
| chrX:108637478
|
A | G | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.3246+11129A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108637478 | ||||||
| chrX:108637514
|
C | T | 8 | a0002c0002t0001g0011a0002c0002t0001g0035a0002c0002t0001g0036others(5): Show | 8 | HG02723.hp2 HG02818.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.3246+11165C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108637514 | ||||||
| chrX:108637561
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+11212A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108637561 | ||||||
| chrX:108637593
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+11244A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108637593 | ||||||
| chrX:108637618
|
A | G | 2 | a0001c0001t0001g0144a0001c0001t0001g0148 | 2 | HG01934.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.3246+11269A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108637618 | ||||||
| chrX:108637853
|
C | CT | 8 | a0001c0001t0001g0127a0001c0003t0001g0062a0001c0003t0001g0063others(5): Show | 8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.3246+11519dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108637853 | |||||
| chrX:108637853
|
CT | C | 2 | a0001c0001t0001g0160a0002c0002t0001g0033 | 2 | HG01169.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.3246+11519delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108637853 | |||||
| chrX:108638373
|
C | CTAAATCA others(2): Show |
2 | a0002c0002t0001g0017a0002c0002t0001g0018 | 2 | NA18957.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.3246+12025_3246+12 others(15): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108638373 | |||||
| chrX:108638385
|
T | TA | 1 | a0001c0001t0001g0105 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.3246+12043dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108638385 | |||||
| chrX:108638887
|
C | T | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3246+12538C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108638887 | ||||||
| chrX:108639001
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+12652C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108639001 | ||||||
| chrX:108639144
|
G | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+12795G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108639144 | ||||||
| chrX:108639291
|
G | A | 2 | a0001c0001t0001g0106a0001c0001t0001g0107 | 2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.3246+12942G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108639291 | ||||||
| chrX:108639476
|
A | G | 1 | a0001c0001t0001g0160 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.3246+13127A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108639476 | ||||||
| chrX:108640108
|
T | G | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.3246+13759T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108640108 | ||||||
| chrX:108640126
|
G | T | 1 | a0001c0001t0001g0098 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.3246+13777G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108640126 | ||||||
| chrX:108640331
|
G | A | 1 | a0001c0001t0001g0044 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.3246+13982G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108640331 | ||||||
| chrX:108640388
|
G | A | 2 | a0001c0001t0001g0204a0001c0001t0001g0207 | 2 | HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.3246+14039G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108640388 | ||||||
| chrX:108640503
|
T | A | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3246+14154T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108640503 | ||||||
| chrX:108640572
|
G | A | 2 | a0001c0001t0001g0115a0001c0001t0001g0139 | 2 | HG00733.hp1 HG01952.hp1 |
intron_variant | MODIFIER | c.3246+14223G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108640572 | ||||||
| chrX:108641358
|
G | A | 1 | a0001c0001t0001g0207 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3247-13973G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108641358 | ||||||
| chrX:108641401
|
A | G | 1 | a0001c0001t0001g0236 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.3247-13930A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108641401 | ||||||
| chrX:108642026
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-13305C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108642026 | ||||||
| chrX:108642215
|
C | T | 1 | a0002c0004t0001g0263 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.3247-13116C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108642215 | ||||||
| chrX:108642492
|
C | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-12839C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108642492 | ||||||
| chrX:108642760
|
C | T | 4 | a0001c0001t0001g0163a0001c0001t0001g0248a0001c0001t0001g0249others(1): Show | 4 | HG02559.hp2 HG02970.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.3247-12571C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108642760 | ||||||
| chrX:108642848
|
C | CA | 15 | a0001c0001t0001g0092a0001c0001t0001g0097a0001c0001t0001g0100others(12): Show | 15 | HG00408.hp1 HG00438.hp2 HG02683.hp1 others(12): Show |
intron_variant | MODIFIER | c.3247-12462dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108642848 | |||||
| chrX:108642848
|
C | CAA | 1 | a0001c0001t0001g0121 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.3247-12463_3247-12 others(8): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108642848 | |||||
| chrX:108642848
|
CA | C | 14 | a0001c0001t0001g0061a0001c0001t0001g0064a0001c0001t0001g0078others(11): Show | 14 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.3247-12462delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108642848 | |||||
| chrX:108642848
|
CAA | C | 2 | a0001c0003t0001g0218a0002c0009t0001g0009 | 2 | HG02145.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.3247-12463_3247-12 others(8): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108642848 | |||||
| chrX:108642848
|
CAAA | C | 52 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(49): Show | 52 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(49): Show |
intron_variant | MODIFIER | c.3247-12464_3247-12 others(9): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108642848 | |||||
| chrX:108642848
|
CAAAA | C | 3 | a0002c0002t0001g0005a0002c0002t0001g0034a0002c0002t0001g0037 | 3 | HG02451.hp1 HG03195.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.3247-12465_3247-12 others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108642848 | |||||
| chrX:108642979
|
A | G | 2 | a0001c0003t0001g0216a0001c0003t0001g0217 | 2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3247-12352A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108642979 | ||||||
| chrX:108643096
|
C | A | 1 | a0001c0001t0001g0257 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.3247-12235C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108643096 | ||||||
| chrX:108643260
|
G | A | 1 | a0001c0003t0001g0218 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3247-12071G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108643260 | ||||||
| chrX:108643530
|
T | A | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.3247-11801T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108643530 | ||||||
| chrX:108643650
|
C | T | 1 | a0001c0001t0001g0098 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.3247-11681C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108643650 | ||||||
| chrX:108643783
|
G | C | 2 | a0001c0001t0001g0045a0001c0001t0001g0119 | 2 | HG02074.hp1 NA18947.hp1 |
intron_variant | MODIFIER | c.3247-11548G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108643783 | ||||||
| chrX:108643846
|
G | A | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3247-11485G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108643846 | ||||||
| chrX:108643862
|
A | G | 8 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(5): Show | 8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.3247-11469A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108643862 | ||||||
| chrX:108643890
|
G | A | 10 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(7): Show | 10 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.3247-11441G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108643890 | ||||||
| chrX:108644280
|
A | G | 1 | a0001c0001t0001g0166 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.3247-11051A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644280 | ||||||
| chrX:108644286
|
C | T | 184 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(181): Show | 184 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(181): Show |
intron_variant | MODIFIER | c.3247-11045C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644286 | ||||||
| chrX:108644598
|
A | G | 1 | a0002c0002t0001g0070 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3247-10733A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644598 | ||||||
| chrX:108644607
|
A | G | 1 | a0001c0001t0001g0080 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.3247-10724A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644607 | ||||||
| chrX:108644832
|
G | A | 1 | a0001c0001t0001g0243 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.3247-10499G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644832 | ||||||
| chrX:108644918
|
AC | A | 2 | a0001c0001t0001g0083a0001c0001t0001g0121 | 2 | HG01109.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.3247-10412delC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644918 | ||||||
| chrX:108644919
|
C | A | 8 | a0001c0001t0001g0001a0001c0001t0001g0136a0001c0001t0001g0183others(5): Show | 8 | HG00423.hp1 HG02056.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.3247-10412C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644919 | ||||||
| chrX:108644919
|
C | CA | 11 | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0120others(8): Show | 11 | HG00408.hp2 HG00642.hp1 HG00738.hp1 others(8): Show |
intron_variant | MODIFIER | c.3247-10394dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108644919 | |||||
| chrX:108644919
|
C | CAA | 1 | a0001c0001t0001g0105 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.3247-10395_3247-10 others(8): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108644919 | |||||
| chrX:108644919
|
CA | C | 4 | a0001c0001t0001g0135a0001c0001t0001g0143a0001c0001t0001g0158others(1): Show | 4 | HG01515.hp1 NA18949.hp1 NA18953.hp1 others(1): Show |
intron_variant | MODIFIER | c.3247-10394delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108644919 | |||||
| chrX:108644919
|
CAA | C | 55 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(52): Show | 55 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(52): Show |
intron_variant | MODIFIER | c.3247-10395_3247-10 others(8): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108644919 | |||||
| chrX:108644921
|
A | AC | 3 | a0001c0001t0001g0228a0001c0001t0001g0230a0001c0001t0001g0232 | 3 | HG01099.hp1 HG01256.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.3247-10410_3247-10 others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644921 | ||||||
| chrX:108644922
|
A | C | 1 | a0001c0001t0001g0133 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.3247-10409A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644922 | ||||||
| chrX:108644923
|
A | C | 1 | a0002c0002t0001g0014 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.3247-10408A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644923 | ||||||
| chrX:108644924
|
A | C | 55 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(52): Show | 55 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(52): Show |
intron_variant | MODIFIER | c.3247-10407A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644924 | ||||||
| chrX:108644926
|
A | C | 1 | a0002c0002t0001g0014 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.3247-10405A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644926 | ||||||
| chrX:108644927
|
A | C | 54 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(51): Show | 54 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(51): Show |
intron_variant | MODIFIER | c.3247-10404A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644927 | ||||||
| chrX:108644957
|
A | G | 7 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(4): Show | 7 | HG01106.hp1 HG01884.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.3247-10374A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644957 | ||||||
| chrX:108645066
|
C | T | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3247-10265C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645066 | ||||||
| chrX:108645132
|
A | G | 1 | a0001c0001t0001g0187 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.3247-10199A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645132 | ||||||
| chrX:108645179
|
C | T | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3247-10152C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645179 | ||||||
| chrX:108645199
|
CAGAAGAA others(3): Show |
C | 1 | a0001c0001t0001g0046 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.3247-10130_3247-10 others(16): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108645199 | |||||
| chrX:108645401
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-9930C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645401 | ||||||
| chrX:108645509
|
C | CT | 6 | a0002c0002t0001g0003a0002c0002t0001g0026a0002c0002t0001g0027others(3): Show | 6 | NA18612.hp1 NA18941.hp1 NA18981.hp2 others(3): Show |
intron_variant | MODIFIER | c.3247-9809dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108645509 | |||||
| chrX:108645509
|
CT | C | 1 | a0001c0001t0001g0153 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.3247-9809delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108645509 | |||||
| chrX:108645579
|
T | A | 1 | a0002c0002t0001g0268 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3247-9752T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645579 | ||||||
| chrX:108645580
|
T | A | 57 | a0001c0001t0015g0075a0002c0002t0001g0002a0002c0002t0001g0003others(54): Show | 57 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(54): Show |
intron_variant | MODIFIER | c.3247-9751T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645580 | ||||||
| chrX:108645685
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-9646T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645685 | ||||||
| chrX:108645719
|
C | A | 184 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(181): Show | 184 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(181): Show |
intron_variant | MODIFIER | c.3247-9612C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645719 | ||||||
| chrX:108645736
|
C | T | 1 | a0002c0002t0001g0015 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.3247-9595C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645736 | ||||||
| chrX:108645906
|
G | T | 2 | a0002c0002t0001g0032a0002c0002t0013g0031 | 2 | NA18960.hp1 NA18969.hp1 |
intron_variant | MODIFIER | c.3247-9425G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645906 | ||||||
| chrX:108645908
|
A | G | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3247-9423A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645908 | ||||||
| chrX:108646029
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-9302C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646029 | ||||||
| chrX:108646030
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-9301A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646030 | ||||||
| chrX:108646076
|
A | T | 1 | a0001c0001t0001g0120 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.3247-9255A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646076 | ||||||
| chrX:108646083
|
T | TG | 268 | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0044others(265): Show | 268 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show |
intron_variant | MODIFIER | c.3247-9246dupG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108646083 | |||||
| chrX:108646092
|
C | A | 1 | a0001c0001t0001g0240 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.3247-9239C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646092 | ||||||
| chrX:108646137
|
A | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-9194A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646137 | ||||||
| chrX:108646149
|
T | C | 1 | a0001c0001t0001g0125 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.3247-9182T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646149 | ||||||
| chrX:108646152
|
C | T | 1 | a0005c0007t0001g0262 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.3247-9179C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646152 | ||||||
| chrX:108646265
|
C | T | 1 | a0002c0002t0001g0070 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3247-9066C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646265 | ||||||
| chrX:108646335
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-8996G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646335 | ||||||
| chrX:108646431
|
G | GT | 1 | a0001c0001t0001g0046 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.3247-8893dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108646431 | |||||
| chrX:108646514
|
C | T | 1 | a0002c0002t0001g0070 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3247-8817C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646514 | ||||||
| chrX:108646530
|
T | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-8801T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646530 | ||||||
| chrX:108646547
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-8784A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646547 | ||||||
| chrX:108646561
|
C | T | 2 | a0001c0001t0001g0145a0001c0001t0001g0151 | 2 | HG02080.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.3247-8770C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646561 | ||||||
| chrX:108646648
|
C | T | 1 | a0001c0001t0001g0122 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.3247-8683C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646648 | ||||||
| chrX:108646713
|
C | G | 1 | a0001c0001t0001g0159 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.3247-8618C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646713 | ||||||
| chrX:108646718
|
A | G | 1 | a0001c0001t0001g0159 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.3247-8613A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646718 | ||||||
| chrX:108646757
|
A | G | 1 | a0001c0001t0001g0159 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.3247-8574A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646757 | ||||||
| chrX:108646761
|
C | G | 1 | a0001c0001t0001g0159 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.3247-8570C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646761 | ||||||
| chrX:108646774
|
T | G | 1 | a0001c0001t0001g0159 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.3247-8557T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646774 | ||||||
| chrX:108646797
|
A | G | 2 | a0001c0003t0001g0216a0001c0003t0001g0217 | 2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3247-8534A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646797 | ||||||
| chrX:108646898
|
C | T | 57 | a0001c0001t0001g0182a0002c0002t0001g0002a0002c0002t0001g0003others(54): Show | 57 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(54): Show |
intron_variant | MODIFIER | c.3247-8433C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646898 | ||||||
| chrX:108646976
|
G | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-8355G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646976 | ||||||
| chrX:108646988
|
G | A | 2 | a0001c0001t0001g0115a0001c0001t0001g0139 | 2 | HG00733.hp1 HG01952.hp1 |
intron_variant | MODIFIER | c.3247-8343G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646988 | ||||||
| chrX:108647013
|
G | A | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3247-8318G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647013 | ||||||
| chrX:108647034
|
T | C | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3247-8297T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647034 | ||||||
| chrX:108647106
|
C | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-8225C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647106 | ||||||
| chrX:108647140
|
G | A | 1 | a0001c0001t0010g0198 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.3247-8191G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647140 | ||||||
| chrX:108647163
|
A | G | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.3247-8168A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647163 | ||||||
| chrX:108647255
|
A | C | 4 | a0001c0001t0001g0248a0001c0001t0001g0249a0001c0001t0001g0250others(1): Show | 4 | HG02559.hp2 HG02970.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.3247-8076A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647255 | ||||||
| chrX:108647289
|
TC | T | 1 | a0001c0001t0001g0087 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.3247-8040delC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108647289 | |||||
| chrX:108647301
|
C | T | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3247-8030C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647301 | ||||||
| chrX:108647355
|
T | A | 1 | a0001c0001t0001g0209 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.3247-7976T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647355 | ||||||
| chrX:108647356
|
C | G | 1 | a0001c0001t0001g0209 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.3247-7975C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647356 | ||||||
| chrX:108647426
|
G | A | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.3247-7905G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647426 | ||||||
| chrX:108647564
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-7767A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647564 | ||||||
| chrX:108647564
|
AC | A | 1 | a0001c0001t0001g0051 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.3247-7764delC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108647564 | |||||
| chrX:108647599
|
A | C | 1 | a0001c0001t0001g0222 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.3247-7732A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647599 | ||||||
| chrX:108647668
|
A | T | 8 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(5): Show | 8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.3247-7663A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647668 | ||||||
| chrX:108647683
|
G | GT | 1 | a0001c0001t0001g0046 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.3247-7643dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108647683 | |||||
| chrX:108647857
|
G | T | 1 | a0001c0003t0001g0215 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3247-7474G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647857 | ||||||
| chrX:108647925
|
T | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-7406T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647925 | ||||||
| chrX:108647936
|
T | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-7395T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647936 | ||||||
| chrX:108647993
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-7338T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647993 | ||||||
| chrX:108648274
|
C | CA | 1 | a0001c0001t0001g0046 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.3247-7049dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108648274 | |||||
| chrX:108648508
|
A | T | 1 | a0001c0001t0001g0120 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.3247-6823A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108648508 | ||||||
| chrX:108648519
|
G | A | 184 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(181): Show | 184 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(181): Show |
intron_variant | MODIFIER | c.3247-6812G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108648519 | ||||||
| chrX:108648577
|
G | GT | 1 | a0001c0001t0001g0046 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.3247-6751dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108648577 | |||||
| chrX:108648645
|
T | G | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3247-6686T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108648645 | ||||||
| chrX:108648654
|
T | C | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.3247-6677T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108648654 | ||||||
| chrX:108648662
|
G | GA | 1 | a0001c0001t0001g0046 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.3247-6661dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108648662 | |||||
| chrX:108648714
|
C | T | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3247-6617C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108648714 | ||||||
| chrX:108649197
|
A | G | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.3247-6134A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108649197 | ||||||
| chrX:108649470
|
C | T | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3247-5861C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108649470 | ||||||
| chrX:108649569
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-5762G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108649569 | ||||||
| chrX:108649592
|
G | T | 1 | a0001c0001t0001g0145 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.3247-5739G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108649592 | ||||||
| chrX:108649636
|
A | C | 1 | a0001c0001t0001g0187 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.3247-5695A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108649636 | ||||||
| chrX:108649746
|
C | CA | 1 | a0001c0001t0001g0046 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.3247-5580dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108649746 | |||||
| chrX:108649763
|
C | T | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.3247-5568C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108649763 | ||||||
| chrX:108649785
|
G | T | 2 | a0001c0001t0001g0199a0001c0001t0001g0200 | 2 | HG03704.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.3247-5546G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108649785 | ||||||
| chrX:108649876
|
C | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-5455C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108649876 | ||||||
| chrX:108649879
|
A | G | 1 | a0001c0001t0001g0149 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.3247-5452A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108649879 | ||||||
| chrX:108650013
|
C | T | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.3247-5318C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108650013 | ||||||
| chrX:108650061
|
G | GA | 2 | a0001c0001t0001g0159a0001c0001t0001g0264 | 2 | HG01884.hp1 NA18940.hp1 |
intron_variant | MODIFIER | c.3247-5261dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108650061 | |||||
| chrX:108650164
|
G | GA | 1 | a0001c0001t0001g0046 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.3247-5159dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108650164 | |||||
| chrX:108650164
|
GA | G | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3247-5159delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108650164 | |||||
| chrX:108650172
|
A | T | 8 | a0002c0002t0001g0011a0002c0002t0001g0035a0002c0002t0001g0036others(5): Show | 8 | HG02723.hp2 HG02818.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.3247-5159A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108650172 | ||||||
| chrX:108650180
|
C | T | 1 | a0001c0001t0001g0256 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.3247-5151C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108650180 | ||||||
| chrX:108650264
|
CA | C | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.3247-5061delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108650264 | |||||
| chrX:108650279
|
C | A | 8 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(5): Show | 8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.3247-5052C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108650279 | ||||||
| chrX:108650516
|
G | GA | 1 | a0001c0001t0001g0046 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.3247-4813dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108650516 | |||||
| chrX:108650634
|
G | A | 1 | a0001c0001t0001g0223 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.3247-4697G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108650634 | ||||||
| chrX:108650923
|
T | C | 2 | a0001c0001t0001g0127a0001c0001t0001g0128 | 2 | NA18747.hp1 NA18979.hp1 |
intron_variant | MODIFIER | c.3247-4408T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108650923 | ||||||
| chrX:108650932
|
T | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-4399T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108650932 | ||||||
| chrX:108651324
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-4007A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108651324 | ||||||
| chrX:108651325
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-4006C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108651325 | ||||||
| chrX:108651452
|
G | GT | 1 | a0001c0001t0001g0046 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.3247-3874dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108651452 | |||||
| chrX:108651479
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-3852G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108651479 | ||||||
| chrX:108651629
|
A | AT | 1 | a0001c0001t0001g0046 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.3247-3698dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108651629 | |||||
| chrX:108651641
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-3690C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108651641 | ||||||
| chrX:108651685
|
C | T | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.3247-3646C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108651685 | ||||||
| chrX:108651708
|
G | A | 1 | a0002c0002t0001g0067 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.3247-3623G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108651708 | ||||||
| chrX:108651860
|
A | G | 2 | a0001c0003t0001g0216a0001c0003t0001g0217 | 2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3247-3471A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108651860 | ||||||
| chrX:108651901
|
G | A | 1 | a0002c0002t0001g0039 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.3247-3430G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108651901 | ||||||
| chrX:108652106
|
G | A | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3247-3225G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108652106 | ||||||
| chrX:108652340
|
T | C | 1 | a0001c0001t0001g0127 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.3247-2991T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108652340 | ||||||
| chrX:108652415
|
T | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-2916T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108652415 | ||||||
| chrX:108652760
|
G | A | 1 | a0002c0002t0001g0006 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.3247-2571G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108652760 | ||||||
| chrX:108652955
|
G | T | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3247-2376G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108652955 | ||||||
| chrX:108652958
|
T | C | 1 | a0002c0002t0001g0041 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3247-2373T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108652958 | ||||||
| chrX:108653144
|
G | GT | 1 | a0001c0001t0001g0046 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.3247-2180dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108653144 | |||||
| chrX:108653284
|
T | TC | 1 | a0001c0001t0001g0182 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.3247-2041dupC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108653284 | |||||
| chrX:108653372
|
G | GT | 3 | a0001c0001t0001g0046a0001c0001t0001g0264a0001c0003t0001g0218 | 3 | HG02145.hp1 NA18940.hp1 NA19055.hp1 |
intron_variant | MODIFIER | c.3247-1949dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108653372 | |||||
| chrX:108653468
|
G | C | 2 | a0001c0001t0001g0061a0001c0001t0001g0064 | 2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.3247-1863G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108653468 | ||||||
| chrX:108653516
|
A | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-1815A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108653516 | ||||||
| chrX:108653651
|
C | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-1680C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108653651 | ||||||
| chrX:108653736
|
T | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-1595T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108653736 | ||||||
| chrX:108653802
|
G | T | 1 | a0001c0001t0001g0173 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.3247-1529G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108653802 | ||||||
| chrX:108654020
|
A | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-1311A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108654020 | ||||||
| chrX:108654345
|
C | CT | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-985dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108654345 | |||||
| chrX:108654515
|
G | A | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.3247-816G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108654515 | ||||||
| chrX:108654547
|
G | T | 8 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(5): Show | 8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.3247-784G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108654547 | ||||||
| chrX:108654635
|
CAG | C | 1 | a0002c0002t0001g0033 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.3247-693_3247-692d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108654635 | |||||
| chrX:108655002
|
T | G | 1 | a0012c0011t0001g0201 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.3247-329T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108655002 | ||||||
| chrX:108655269
|
T | C | 1 | a0001c0003t0001g0218 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3247-62T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108655269 | ||||||
| chrX:108655493
|
T | C | 1 | a0002c0002t0001g0065 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.3373+36T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108655493 | ||||||
| chrX:108655594
|
A | C | 1 | a0001c0001t0001g0122 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.3373+137A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108655594 | ||||||
| chrX:108655838
|
G | A | 1 | a0002c0002t0001g0065 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.3373+381G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108655838 | ||||||
| chrX:108655858
|
A | G | 1 | a0001c0003t0001g0219 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3373+401A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108655858 | ||||||
| chrX:108655903
|
G | T | 1 | a0001c0001t0010g0198 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.3373+446G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108655903 | ||||||
| chrX:108656147
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3373+690C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108656147 | ||||||
| chrX:108656191
|
A | G | 1 | a0001c0001t0001g0174 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.3373+734A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108656191 | ||||||
| chrX:108656789
|
G | T | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3373+1332G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108656789 | ||||||
| chrX:108656801
|
G | A | 2 | a0002c0002t0001g0013a0002c0002t0001g0025 | 2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.3373+1344G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108656801 | ||||||
| chrX:108656965
|
C | G | 4 | a0001c0001t0001g0045a0001c0001t0001g0118a0001c0001t0001g0119others(1): Show | 4 | HG02074.hp1 NA18947.hp1 NA19081.hp1 others(1): Show |
intron_variant | MODIFIER | c.3373+1508C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108656965 | ||||||
| chrX:108656984
|
A | T | 1 | a0001c0001t0001g0188 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.3373+1527A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108656984 | ||||||
| chrX:108657374
|
C | A | 1 | a0001c0001t0001g0200 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.3373+1917C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108657374 | ||||||
| chrX:108657492
|
G | A | 2 | a0001c0001t0008g0181a0001c0001t0009g0210 | 2 | HG02683.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.3373+2035G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108657492 | ||||||
| chrX:108657523
|
G | A | 4 | a0001c0001t0001g0163a0001c0001t0001g0248a0001c0001t0001g0249others(1): Show | 4 | HG02559.hp2 HG02970.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.3373+2066G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108657523 | ||||||
| chrX:108658041
|
A | G | 1 | a0001c0001t0001g0121 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.3373+2584A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108658041 | ||||||
| chrX:108658256
|
A | G | 1 | a0001c0001t0001g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3373+2799A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108658256 | ||||||
| chrX:108658363
|
A | T | 1 | a0001c0001t0001g0097 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.3373+2906A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108658363 | ||||||
| chrX:108658457
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3373+3000T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108658457 | ||||||
| chrX:108658876
|
T | A | 1 | a0014c0008t0001g0162 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.3373+3419T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108658876 | ||||||
| chrX:108659244
|
A | G | 1 | a0001c0001t0001g0167 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.3373+3787A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108659244 | ||||||
| chrX:108659300
|
A | G | 1 | a0001c0003t0001g0219 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3373+3843A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108659300 | ||||||
| chrX:108659407
|
G | C | 1 | a0001c0001t0001g0094 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.3373+3950G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108659407 | ||||||
| chrX:108659420
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3373+3963A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108659420 | ||||||
| chrX:108659986
|
G | A | 2 | a0001c0001t0001g0206a0001c0001t0001g0208 | 2 | HG01243.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.3373+4529G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108659986 | ||||||
| chrX:108660330
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3373+4873C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108660330 | ||||||
| chrX:108660335
|
C | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3373+4878C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108660335 | ||||||
| chrX:108660341
|
C | T | 1 | a0001c0001t0001g0122 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.3373+4884C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108660341 | ||||||
| chrX:108660479
|
C | T | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3373+5022C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108660479 | ||||||
| chrX:108660603
|
ATTT | A | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3374-4901_3374-489 others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | INFO_REALIGN_3_PRIME | chrX | 108660603 | |||||
| chrX:108660858
|
G | A | 2 | a0001c0003t0001g0216a0001c0003t0001g0217 | 2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3374-4649G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108660858 | ||||||
| chrX:108660969
|
C | A | 8 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(5): Show | 8 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.3374-4538C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108660969 | ||||||
| chrX:108661096
|
A | G | 2 | a0002c0002t0001g0036a0002c0002t0001g0037 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.3374-4411A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108661096 | ||||||
| chrX:108661683
|
G | T | 1 | a0001c0001t0001g0187 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.3374-3824G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108661683 | ||||||
| chrX:108661697
|
T | C | 1 | a0001c0003t0001g0214 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.3374-3810T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108661697 | ||||||
| chrX:108661880
|
G | A | 2 | a0002c0002t0001g0068a0002c0002t0001g0069 | 2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.3374-3627G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108661880 | ||||||
| chrX:108662067
|
T | TC | 1 | a0009c0015t0001g0103 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.3374-3434dupC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | INFO_REALIGN_3_PRIME | chrX | 108662067 | |||||
| chrX:108662074
|
T | TC | 3 | a0001c0001t0001g0094a0001c0003t0001g0217a0002c0002t0001g0023 | 3 | HG01978.hp1 HG02647.hp1 NA18967.hp1 |
intron_variant | MODIFIER | c.3374-3427dupC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | INFO_REALIGN_3_PRIME | chrX | 108662074 | |||||
| chrX:108662161
|
A | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3374-3346A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108662161 | ||||||
| chrX:108662650
|
T | A | 1 | a0001c0003t0007g0220 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3374-2857T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108662650 | ||||||
| chrX:108662759
|
A | G | 2 | a0001c0001t0001g0154a0001c0001t0001g0157 | 2 | HG02015.hp1 NA19084.hp2 |
intron_variant | MODIFIER | c.3374-2748A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108662759 | ||||||
| chrX:108662838
|
C | T | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.3374-2669C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108662838 | ||||||
| chrX:108663738
|
TAAAATA | T | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.3374-1764_3374-175 others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | INFO_REALIGN_3_PRIME | chrX | 108663738 | |||||
| chrX:108663743
|
T | TA | 1 | a0001c0001t0001g0182 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.3374-1752dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | INFO_REALIGN_3_PRIME | chrX | 108663743 | |||||
| chrX:108663743
|
TA | T | 49 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(46): Show | 49 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(46): Show |
intron_variant | MODIFIER | c.3374-1752delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | INFO_REALIGN_3_PRIME | chrX | 108663743 | |||||
| chrX:108663831
|
A | C | 2 | a0001c0001t0001g0060a0001c0001t0004g0059 | 2 | HG02897.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.3374-1676A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108663831 | ||||||
| chrX:108664042
|
G | C | 1 | a0001c0001t0001g0188 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.3374-1465G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664042 | ||||||
| chrX:108664043
|
G | T | 1 | a0001c0001t0001g0188 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.3374-1464G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664043 | ||||||
| chrX:108664141
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3374-1366C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664141 | ||||||
| chrX:108664376
|
C | T | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.3374-1131C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664376 | ||||||
| chrX:108664495
|
G | A | 7 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(4): Show | 7 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.3374-1012G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664495 | ||||||
| chrX:108664604
|
G | A | 1 | a0001c0001t0001g0257 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.3374-903G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664604 | ||||||
| chrX:108664627
|
C | T | 2 | a0002c0002t0001g0036a0002c0002t0001g0037 | 2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.3374-880C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664627 | ||||||
| chrX:108664647
|
T | C | 1 | a0001c0003t0001g0218 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3374-860T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664647 | ||||||
| chrX:108664908
|
C | A | 1 | a0001c0001t0001g0166 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.3374-599C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664908 | ||||||
| chrX:108664916
|
A | T | 1 | a0001c0001t0001g0247 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.3374-591A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664916 | ||||||
| chrX:108664944
|
A | G | 2 | a0001c0001t0001g0144a0001c0001t0001g0148 | 2 | HG01934.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.3374-563A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664944 | ||||||
| chrX:108664957
|
T | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3374-550T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664957 | ||||||
| chrX:108665233
|
T | C | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.3374-274T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108665233 | ||||||
| chrX:108665849
|
G | A | 1 | a0001c0003t0007g0220 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3454+262G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 38/52 | chrX | 108665849 | ||||||
| chrX:108665950
|
G | T | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3454+363G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 38/52 | chrX | 108665950 | ||||||
| chrX:108665959
|
C | T | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3454+372C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 38/52 | chrX | 108665959 | ||||||
| chrX:108666048
|
G | GA | 68 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(65): Show | 68 | HG01106.hp1 HG01884.hp2 HG01975.hp2 others(65): Show |
intron_variant | MODIFIER | c.3455-436dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 38/52 | INFO_REALIGN_3_PRIME | chrX | 108666048 | |||||
| chrX:108666636
|
T | C | 68 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(65): Show | 68 | HG01106.hp1 HG01884.hp2 HG01975.hp2 others(65): Show |
intron_variant | MODIFIER | c.3553+42T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 39/52 | chrX | 108666636 | ||||||
| chrX:108666795
|
C | A | 1 | a0002c0002t0001g0070 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3553+201C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 39/52 | chrX | 108666795 | ||||||
| chrX:108667254
|
C | G | 12 | a0001c0003t0001g0062a0001c0003t0001g0063a0001c0003t0001g0211others(9): Show | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.3604+71C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 40/52 | chrX | 108667254 | ||||||
| chrX:108667615
|
T | G | 2 | a0001c0001t0001g0061a0001c0001t0001g0064 | 2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.3604+432T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 40/52 | chrX | 108667615 | ||||||
| chrX:108667815
|
C | T | 1 | a0001c0001t0001g0160 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.3605-504C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 40/52 | chrX | 108667815 | ||||||
| chrX:108667836
|
GA | G | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3605-477delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 40/52 | INFO_REALIGN_3_PRIME | chrX | 108667836 | |||||
| chrX:108668615
|
A | G | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.3790+111A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108668615 | ||||||
| chrX:108668803
|
A | G | 1 | a0002c0002t0001g0070 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3790+299A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108668803 | ||||||
| chrX:108668863
|
G | A | 1 | a0001c0001t0001g0200 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.3790+359G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108668863 | ||||||
| chrX:108669069
|
C | T | 1 | a0001c0003t0001g0213 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3790+565C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108669069 | ||||||
| chrX:108669165
|
G | A | 1 | a0001c0001t0001g0167 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.3790+661G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108669165 | ||||||
| chrX:108669274
|
C | A | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3790+770C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108669274 | ||||||
| chrX:108669458
|
A | C | 112 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(109): Show | 112 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(109): Show |
intron_variant | MODIFIER | c.3791-770A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108669458 | ||||||
| chrX:108669488
|
A | G | 1 | a0001c0001t0001g0269 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.3791-740A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108669488 | ||||||
| chrX:108669701
|
T | C | 1 | a0002c0002t0001g0035 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.3791-527T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108669701 | ||||||
| chrX:108669895
|
A | G | 2 | a0001c0001t0001g0061a0001c0001t0001g0064 | 2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.3791-333A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108669895 | ||||||
| chrX:108669931
|
T | C | 1 | a0001c0001t0001g0269 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.3791-297T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108669931 | ||||||
| chrX:108670024
|
G | A | 2 | a0002c0002t0001g0065a0002c0002t0001g0066 | 2 | HG02109.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.3791-204G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108670024 | ||||||
| chrX:108670195
|
A | T | 1 | a0001c0001t0001g0257 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.3791-33A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108670195 | ||||||
| chrX:108670618
|
A | G | 1 | a0001c0001t0001g0222 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.3799+382A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108670618 | ||||||
| chrX:108670705
|
A | G | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3799+469A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108670705 | ||||||
| chrX:108670846
|
C | T | 2 | a0001c0001t0001g0190a0001c0001t0001g0192 | 2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.3799+610C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108670846 | ||||||
| chrX:108670915
|
G | A | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3799+679G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108670915 | ||||||
| chrX:108671010
|
G | A | 1 | a0005c0007t0001g0260 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.3799+774G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108671010 | ||||||
| chrX:108671094
|
A | AT | 1 | a0001c0001t0001g0052 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.3799+860dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | INFO_REALIGN_3_PRIME | chrX | 108671094 | |||||
| chrX:108671106
|
T | TA | 1 | a0001c0001t0001g0052 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.3799+873dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | INFO_REALIGN_3_PRIME | chrX | 108671106 | |||||
| chrX:108671410
|
C | A | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3799+1174C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108671410 | ||||||
| chrX:108671476
|
G | A | 3 | a0001c0001t0001g0044a0001c0001t0001g0083a0001c0001t0001g0094 | 3 | HG01978.hp1 NA19009.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.3799+1240G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108671476 | ||||||
| chrX:108671739
|
A | G | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.3799+1503A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108671739 | ||||||
| chrX:108671794
|
ACT | A | 1 | a0004c0006t0001g0246 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.3799+1565_3799+156 others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | INFO_REALIGN_3_PRIME | chrX | 108671794 | |||||
| chrX:108672637
|
C | CA | 1 | a0001c0001t0001g0143 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.3800-2099dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | INFO_REALIGN_3_PRIME | chrX | 108672637 | |||||
| chrX:108672673
|
T | C | 1 | a0001c0001t0001g0236 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.3800-2072T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108672673 | ||||||
| chrX:108672853
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3800-1892T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108672853 | ||||||
| chrX:108672894
|
ACT | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3800-1848_3800-184 others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | INFO_REALIGN_3_PRIME | chrX | 108672894 | |||||
| chrX:108672991
|
G | T | 6 | a0001c0001t0001g0117a0001c0001t0001g0130a0001c0001t0001g0173others(3): Show | 6 | HG00621.hp1 NA18940.hp1 NA18985.hp1 others(3): Show |
intron_variant | MODIFIER | c.3800-1754G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108672991 | ||||||
| chrX:108673078
|
CT | C | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3800-1663delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | INFO_REALIGN_3_PRIME | chrX | 108673078 | |||||
| chrX:108673534
|
G | T | 1 | a0001c0001t0001g0239 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.3800-1211G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108673534 | ||||||
| chrX:108673735
|
TATA | T | 1 | a0001c0001t0001g0127 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.3800-988_3800-986d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | INFO_REALIGN_3_PRIME | chrX | 108673735 | |||||
| chrX:108673934
|
C | T | 1 | a0001c0001t0001g0139 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.3800-811C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108673934 | ||||||
| chrX:108674085
|
C | T | 8 | a0001c0001t0001g0116a0001c0001t0001g0127a0001c0001t0001g0128others(5): Show | 8 | HG01261.hp1 HG01928.hp1 HG01943.hp1 others(5): Show |
intron_variant | MODIFIER | c.3800-660C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108674085 | ||||||
| chrX:108674172
|
C | T | 7 | a0001c0001t0001g0051a0001c0001t0001g0074a0001c0001t0001g0124others(4): Show | 7 | HG02257.hp1 HG02451.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.3800-573C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108674172 | ||||||
| chrX:108674381
|
T | A | 2 | a0001c0001t0001g0265a0001c0001t0001g0266 | 2 | HG01358.hp1 HG02735.hp1 |
intron_variant | MODIFIER | c.3800-364T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108674381 | ||||||
| chrX:108674583
|
CT | C | 1 | a0007c0013t0001g0126 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.3800-161delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108674583 | ||||||
| chrX:108674777
|
C | CT | 4 | a0001c0001t0001g0064a0001c0001t0001g0148a0001c0001t0001g0153others(1): Show | 4 | HG02080.hp2 HG02683.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.3808+42dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | INFO_REALIGN_3_PRIME | chrX | 108674777 | |||||
| chrX:108674777
|
CT | C | 20 | a0001c0001t0001g0051a0001c0001t0001g0058a0001c0001t0001g0156others(17): Show | 20 | HG00733.hp2 HG01167.hp1 HG02015.hp1 others(17): Show |
intron_variant | MODIFIER | c.3808+42delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | INFO_REALIGN_3_PRIME | chrX | 108674777 | |||||
| chrX:108674819
|
G | C | 1 | a0001c0001t0001g0257 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.3808+66G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | chrX | 108674819 | ||||||
| chrX:108674958
|
A | G | 1 | a0001c0001t0001g0159 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.3808+205A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | chrX | 108674958 | ||||||
| chrX:108675014
|
C | T | 1 | a0001c0001t0001g0153 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.3808+261C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | chrX | 108675014 | ||||||
| chrX:108675639
|
T | G | 1 | a0001c0001t0001g0079 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.3808+886T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | chrX | 108675639 | ||||||
| chrX:108675646
|
ATTG | A | 1 | a0002c0002t0013g0031 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.3808+898_3808+900d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | INFO_REALIGN_3_PRIME | chrX | 108675646 | |||||
| chrX:108675956
|
G | A | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3808+1203G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | chrX | 108675956 | ||||||
| chrX:108676190
|
A | C | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3809-1310A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | chrX | 108676190 | ||||||
| chrX:108676305
|
C | T | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.3809-1195C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | chrX | 108676305 | ||||||
| chrX:108676388
|
CAAGT | C | 1 | a0001c0001t0001g0048 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.3809-1109_3809-110 others(8): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | INFO_REALIGN_3_PRIME | chrX | 108676388 | |||||
| chrX:108676451
|
G | A | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.3809-1049G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | chrX | 108676451 | ||||||
| chrX:108677020
|
A | G | 1 | a0001c0001t0001g0236 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.3809-480A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | chrX | 108677020 | ||||||
| chrX:108677890
|
C | A | 1 | a0002c0002t0001g0041 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3942+257C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | chrX | 108677890 | ||||||
| chrX:108678162
|
CAG | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3942+534_3942+535d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | INFO_REALIGN_3_PRIME | chrX | 108678162 | |||||
| chrX:108678238
|
G | T | 3 | a0002c0002t0001g0014a0002c0002t0001g0023a0002c0002t0001g0024 | 3 | NA18949.hp1 NA18967.hp1 NA18998.hp2 |
intron_variant | MODIFIER | c.3942+605G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | chrX | 108678238 | ||||||
| chrX:108678382
|
A | C | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.3942+749A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | chrX | 108678382 | ||||||
| chrX:108678406
|
C | CTACTCAC others(7): Show |
1 | a0001c0001t0001g0226 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.3942+774_3942+787d others(16): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | INFO_REALIGN_3_PRIME | chrX | 108678406 | |||||
| chrX:108678523
|
C | A | 106 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(103): Show | 106 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(103): Show |
intron_variant | MODIFIER | c.3942+890C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | chrX | 108678523 | ||||||
| chrX:108678579
|
A | T | 1 | a0001c0001t0001g0167 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.3942+946A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | chrX | 108678579 | ||||||
| chrX:108679682
|
C | A | 1 | a0001c0001t0001g0051 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.3943-997C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | chrX | 108679682 | ||||||
| chrX:108679742
|
ATTGT | A | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.3943-933_3943-930d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | INFO_REALIGN_3_PRIME | chrX | 108679742 | |||||
| chrX:108679791
|
C | G | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3943-888C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | chrX | 108679791 | ||||||
| chrX:108680251
|
G | GGGAGATC others(16): Show |
2 | a0001c0001t0001g0049a0001c0001t0001g0050 | 2 | NA18966.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.3943-427_3943-405d others(25): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | INFO_REALIGN_3_PRIME | chrX | 108680251 | |||||
| chrX:108680480
|
G | A | 1 | a0002c0002t0001g0069 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.3943-199G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | chrX | 108680480 | ||||||
| chrX:108680874
|
CT | C | 3 | a0002c0002t0001g0014a0002c0002t0001g0023a0002c0002t0001g0024 | 3 | NA18949.hp1 NA18967.hp1 NA18998.hp2 |
intron_variant | MODIFIER | c.4016-9delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chrX | 108680874 | |||||
| chrX:108681375
|
G | T | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.4088-385G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 46/52 | chrX | 108681375 | ||||||
| chrX:108681403
|
C | G | 1 | a0010c0016t0001g0175 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.4088-357C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 46/52 | chrX | 108681403 | ||||||
| chrX:108681540
|
A | G | 1 | a0001c0001t0001g0121 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.4088-220A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 46/52 | chrX | 108681540 | ||||||
| chrX:108681565
|
C | T | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.4088-195C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 46/52 | chrX | 108681565 | ||||||
| chrX:108682022
|
C | T | 2 | a0001c0001t0001g0158a0001c0001t0001g0171 | 2 | HG01515.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.4216+134C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108682022 | ||||||
| chrX:108682036
|
C | T | 4 | a0001c0001t0001g0045a0001c0001t0001g0118a0001c0001t0001g0119others(1): Show | 4 | HG02074.hp1 NA18947.hp1 NA19081.hp1 others(1): Show |
intron_variant | MODIFIER | c.4216+148C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108682036 | ||||||
| chrX:108682212
|
A | G | 1 | a0001c0001t0001g0184 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.4216+324A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108682212 | ||||||
| chrX:108682230
|
A | G | 1 | a0001c0001t0001g0134 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.4216+342A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108682230 | ||||||
| chrX:108682344
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.4216+456G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108682344 | ||||||
| chrX:108682414
|
G | T | 1 | a0001c0001t0001g0145 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.4216+526G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108682414 | ||||||
| chrX:108682468
|
A | G | 8 | a0002c0002t0001g0011a0002c0002t0001g0035a0002c0002t0001g0036others(5): Show | 8 | HG02723.hp2 HG02818.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.4216+580A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108682468 | ||||||
| chrX:108682670
|
G | T | 1 | a0001c0001t0001g0116 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.4216+782G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108682670 | ||||||
| chrX:108682687
|
C | T | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.4216+799C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108682687 | ||||||
| chrX:108682823
|
A | AT | 1 | a0002c0002t0001g0037 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.4216+939dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | INFO_REALIGN_3_PRIME | chrX | 108682823 | |||||
| chrX:108683158
|
C | T | 1 | a0001c0001t0001g0208 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.4216+1270C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108683158 | ||||||
| chrX:108683337
|
C | G | 1 | a0001c0001t0001g0241 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.4216+1449C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108683337 | ||||||
| chrX:108683391
|
C | T | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.4216+1503C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108683391 | ||||||
| chrX:108683484
|
A | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.4216+1596A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108683484 | ||||||
| chrX:108683526
|
G | A | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.4216+1638G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108683526 | ||||||
| chrX:108683765
|
A | C | 1 | a0001c0001t0001g0074 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.4216+1877A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108683765 | ||||||
| chrX:108683864
|
C | T | 1 | a0001c0001t0001g0079 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.4216+1976C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108683864 | ||||||
| chrX:108683972
|
G | A | 6 | a0003c0005t0001g0109a0003c0005t0001g0112a0003c0005t0001g0113others(3): Show | 6 | NA18949.hp2 NA18951.hp2 NA18959.hp1 others(3): Show |
intron_variant | MODIFIER | c.4217-2059G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108683972 | ||||||
| chrX:108684412
|
A | G | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.4217-1619A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108684412 | ||||||
| chrX:108684573
|
T | C | 1 | a0001c0001t0001g0236 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.4217-1458T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108684573 | ||||||
| chrX:108684673
|
T | G | 13 | a0001c0001t0001g0221a0001c0001t0001g0222a0001c0001t0001g0223others(10): Show | 13 | HG00099.hp1 HG01099.hp1 HG01256.hp1 others(10): Show |
intron_variant | MODIFIER | c.4217-1358T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108684673 | ||||||
| chrX:108684697
|
C | T | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.4217-1334C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108684697 | ||||||
| chrX:108684706
|
C | T | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.4217-1325C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108684706 | ||||||
| chrX:108684808
|
A | C | 1 | a0001c0001t0001g0168 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.4217-1223A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108684808 | ||||||
| chrX:108684914
|
T | A | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.4217-1117T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108684914 | ||||||
| chrX:108685039
|
A | C | 29 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0052others(26): Show | 29 | HG00099.hp1 HG01099.hp1 HG01192.hp1 others(26): Show |
intron_variant | MODIFIER | c.4217-992A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108685039 | ||||||
| chrX:108685381
|
C | T | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.4217-650C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108685381 | ||||||
| chrX:108685412
|
G | A | 8 | a0001c0001t0001g0122a0001c0001t0001g0131a0001c0001t0001g0147others(5): Show | 8 | HG02559.hp2 HG02723.hp1 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.4217-619G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108685412 | ||||||
| chrX:108685450
|
C | T | 2 | a0001c0003t0001g0216a0001c0003t0001g0217 | 2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.4217-581C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108685450 | ||||||
| chrX:108685761
|
G | A | 1 | a0001c0001t0001g0176 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.4217-270G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108685761 | ||||||
| chrX:108685827
|
C | A | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.4217-204C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108685827 | ||||||
| chrX:108686149
|
C | A | 1 | a0001c0001t0001g0264 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.4315+20C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 48/52 | chrX | 108686149 | ||||||
| chrX:108686374
|
A | T | 1 | a0006c0017t0001g0102 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.4315+245A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 48/52 | chrX | 108686374 | ||||||
| chrX:108686436
|
T | A | 1 | a0001c0001t0001g0119 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.4315+307T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 48/52 | chrX | 108686436 | ||||||
| chrX:108686437
|
G | T | 1 | a0001c0001t0001g0119 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.4315+308G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 48/52 | chrX | 108686437 | ||||||
| chrX:108686583
|
T | C | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.4315+454T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 48/52 | chrX | 108686583 | ||||||
| chrX:108687077
|
G | T | 1 | a0001c0001t0001g0133 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.4316-405G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 48/52 | chrX | 108687077 | ||||||
| chrX:108687283
|
G | A | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.4316-199G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 48/52 | chrX | 108687283 | ||||||
| chrX:108687810
|
G | A | 1 | a0001c0003t0001g0219 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4528+116G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108687810 | ||||||
| chrX:108687876
|
C | T | 1 | a0001c0001t0001g0188 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.4528+182C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108687876 | ||||||
| chrX:108688193
|
G | A | 3 | a0005c0007t0001g0260a0005c0007t0001g0262a0011c0010t0001g0261 | 3 | HG02523.hp1 HG04228.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.4528+499G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108688193 | ||||||
| chrX:108688198
|
G | A | 56 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(53): Show | 56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.4528+504G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108688198 | ||||||
| chrX:108688442
|
G | GT | 2 | a0001c0001t0001g0061a0011c0010t0001g0261 | 2 | HG02976.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.4528+759dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | INFO_REALIGN_3_PRIME | chrX | 108688442 | |||||
| chrX:108688458
|
C | T | 2 | a0001c0001t0001g0061a0001c0001t0001g0064 | 2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.4528+764C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108688458 | ||||||
| chrX:108688823
|
A | G | 4 | a0002c0004t0001g0263a0005c0007t0001g0260a0005c0007t0001g0262others(1): Show | 4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.4528+1129A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108688823 | ||||||
| chrX:108688998
|
T | C | 1 | a0001c0001t0001g0231 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.4528+1304T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108688998 | ||||||
| chrX:108689369
|
G | A | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.4528+1675G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108689369 | ||||||
| chrX:108689990
|
C | G | 114 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.4528+2296C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108689990 | ||||||
| chrX:108690301
|
G | C | 1 | a0001c0003t0001g0218 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.4529-2447G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108690301 | ||||||
| chrX:108690365
|
T | C | 8 | a0002c0002t0001g0011a0002c0002t0001g0035a0002c0002t0001g0036others(5): Show | 8 | HG02723.hp2 HG02818.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.4529-2383T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108690365 | ||||||
| chrX:108690499
|
C | A | 1 | a0002c0002t0001g0069 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.4529-2249C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108690499 | ||||||
| chrX:108690549
|
T | A | 1 | a0002c0002t0001g0027 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.4529-2199T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108690549 | ||||||
| chrX:108690611
|
T | C | 1 | a0001c0003t0001g0213 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4529-2137T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108690611 | ||||||
| chrX:108690949
|
G | A | 1 | a0001c0001t0001g0122 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.4529-1799G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108690949 | ||||||
| chrX:108690957
|
T | C | 1 | a0002c0004t0003g0042 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.4529-1791T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108690957 | ||||||
| chrX:108691307
|
C | T | 10 | a0001c0001t0001g0123a0001c0001t0001g0129a0001c0001t0001g0135others(7): Show | 10 | HG00558.hp1 NA18952.hp1 NA18953.hp1 others(7): Show |
intron_variant | MODIFIER | c.4529-1441C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108691307 | ||||||
| chrX:108691344
|
TA | T | 1 | a0001c0001t0001g0097 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.4529-1396delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | INFO_REALIGN_3_PRIME | chrX | 108691344 | |||||
| chrX:108691666
|
A | T | 48 | a0002c0002t0001g0002a0002c0002t0001g0003a0002c0002t0001g0004others(45): Show | 48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.4529-1082A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108691666 | ||||||
| chrX:108691687
|
A | G | 1 | a0001c0001t0001g0079 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.4529-1061A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108691687 | ||||||
| chrX:108691783
|
T | TTTAG | 1 | a0001c0001t0001g0238 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4529-964_4529-963i others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | INFO_REALIGN_3_PRIME | chrX | 108691783 | |||||
| chrX:108691787
|
A | G | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.4529-961A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108691787 | ||||||
| chrX:108691940
|
A | G | 4 | a0001c0003t0001g0216a0001c0003t0001g0217a0001c0003t0001g0218others(1): Show | 4 | HG02145.hp1 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.4529-808A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108691940 | ||||||
| chrX:108691954
|
C | A | 224 | a0001c0001t0001g0001a0001c0001t0001g0045a0001c0001t0001g0046others(221): Show | 224 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(221): Show |
intron_variant | MODIFIER | c.4529-794C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108691954 | ||||||
| chrX:108692276
|
T | A | 1 | a0001c0001t0001g0095 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.4529-472T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108692276 | ||||||
| chrX:108692413
|
G | A | 26 | a0002c0002t0001g0003a0002c0002t0001g0012a0002c0002t0001g0013others(23): Show | 26 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(23): Show |
intron_variant | MODIFIER | c.4529-335G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108692413 | ||||||
| chrX:108692618
|
A | G | 1 | a0001c0001t0001g0043 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.4529-130A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108692618 | ||||||
| chrX:108693120
|
C | T | 1 | a0001c0001t0001g0180 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.4706+195C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | chrX | 108693120 | ||||||
| chrX:108693632
|
T | C | 2 | a0001c0001t0001g0124a0001c0001t0001g0169 | 2 | HG02630.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.4706+707T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | chrX | 108693632 | ||||||
| chrX:108693965
|
T | TA | 1 | a0001c0001t0001g0061 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.4707-839dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | INFO_REALIGN_3_PRIME | chrX | 108693965 | |||||
| chrX:108694026
|
C | G | 1 | a0002c0002t0001g0066 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.4707-781C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | chrX | 108694026 | ||||||
| chrX:108694039
|
GGGT | G | 1 | a0002c0002t0001g0024 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.4707-766_4707-764d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | INFO_REALIGN_3_PRIME | chrX | 108694039 | |||||
| chrX:108694040
|
GGTGTAT | G | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.4707-762_4707-757d others(8): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | INFO_REALIGN_3_PRIME | chrX | 108694040 | |||||
| chrX:108694041
|
GTGTA | G | 47 | a0001c0001t0001g0122a0002c0002t0001g0002a0002c0002t0001g0003others(44): Show | 47 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(44): Show |
intron_variant | MODIFIER | c.4707-762_4707-759d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | INFO_REALIGN_3_PRIME | chrX | 108694041 | |||||
| chrX:108694043
|
GTA | G | 85 | a0001c0001t0001g0045a0001c0001t0001g0051a0001c0001t0001g0057others(82): Show | 85 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(82): Show |
intron_variant | MODIFIER | c.4707-762_4707-761d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | INFO_REALIGN_3_PRIME | chrX | 108694043 | |||||
| chrX:108694045
|
A | ATG | 3 | a0001c0001t0001g0095a0001c0001t0001g0108a0001c0001t0001g0195 | 3 | HG00673.hp1 HG01081.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.4707-734_4707-733d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | INFO_REALIGN_3_PRIME | chrX | 108694045 | |||||
| chrX:108694045
|
A | G | 47 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0048others(44): Show | 47 | HG00558.hp1 HG00735.hp2 HG01106.hp1 others(44): Show |
intron_variant | MODIFIER | c.4707-762A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | chrX | 108694045 | ||||||
| chrX:108694201
|
A | G | 3 | a0002c0002t0001g0003a0002c0002t0001g0026a0002c0002t0001g0030 | 3 | NA18981.hp2 NA19085.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.4707-606A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | chrX | 108694201 | ||||||
| chrX:108694771
|
C | A | 7 | a0002c0004t0001g0263a0002c0004t0002g0071a0002c0004t0002g0073others(4): Show | 7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.4707-36C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | chrX | 108694771 | ||||||
| chrX:108695060
|
T | A | 3 | a0001c0001t0001g0123a0001c0001t0001g0135a0001c0001t0001g0140 | 3 | NA18962.hp1 NA18977.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.4821+139T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 51/52 | chrX | 108695060 | ||||||
| chrX:108695220
|
A | G | 3 | a0002c0004t0002g0071a0002c0004t0002g0073a0002c0004t0012g0072 | 3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.4822-47A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 51/52 | chrX | 108695220 | ||||||
| chrX:108695751
|
T | C | 1 | a0001c0001t0001g0184 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.4994+312T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 52/52 | chrX | 108695751 |