| geneid | 2201 |
|---|---|
| ensemblid | ENSG00000138829.14 |
| hgncid | 3604 |
| symbol | FBN2 |
| name | fibrillin 2 |
| refseq_nuc | NM_001999.4 |
| refseq_prot | NP_001990.2 |
| ensembl_nuc | ENST00000262464.9 |
| ensembl_prot | ENSP00000262464.4 |
| mane_status | MANE Select |
| chr | chr5 |
| start | 128257909 |
| end | 128538245 |
| strand | - |
| ver | v1.2 |
| region | chr5:128257909-128538245 |
| region5000 | chr5:128252909-128543245 |
| regionname0 | FBN2_chr5_128257909_128538245 |
| regionname5000 | FBN2_chr5_128252909_128543245 |
| 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 | 0/1 | 2912 | 93 | 25 | 20 | 25 | 5 | 17 | 19 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002 | 0/0 | 2912 | 48 | 14 | 4 | 27 | 1 | 2 | 21 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003 | 1/0 | 2912 | 48 | 20 | 15 | 4 | 2 | 6 | 4 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0004 | 0/0 | 2912 | 14 | 1 | 1 | 11 | 1 | 0 | 10 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0005 | 0/0 | 2912 | 4 | 0 | 0 | 4 | 0 | 0 | 4 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0006 | 0/0 | 2912 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0007 | 0/0 | 2912 | 2 | 0 | 0 | 0 | 0 | 2 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0008 | 0/0 | 2912 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0009 | 0/0 | 2912 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0010 | 0/0 | 2912 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0011 | 0/0 | 2912 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0012 | 0/0 | 2912 | 2 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0013 | 0/0 | 2912 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0014 | 0/0 | 2912 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0015 | 0/0 | 2912 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0016 | 0/0 | 2912 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0017 | 0/0 | 2912 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0018 | 0/0 | 2912 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0019 | 0/0 | 2912 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0020 | 0/0 | 2912 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0021 | 0/0 | 2912 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0022 | 0/0 | 2912 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0023 | 0/0 | 2912 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0024 | 0/0 | 2912 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0025 | 0/0 | 2912 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0026 | 0/0 | 2912 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0027 | 0/0 | 2912 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| 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 | 0/0 | 8739 | 46 | 2 | 15 | 14 | 4 | 11 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0002 | 0/0 | 8739 | 33 | 1 | 3 | 26 | 1 | 2 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0003 | 0/1 | 8739 | 20 | 4 | 5 | 8 | 0 | 2 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0004 | 1/0 | 8739 | 18 | 9 | 2 | 1 | 1 | 4 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0005 | 0/0 | 8739 | 14 | 1 | 1 | 11 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0006 | 0/0 | 8739 | 8 | 0 | 4 | 2 | 1 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0007 | 0/0 | 8739 | 6 | 4 | 2 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0008 | 0/0 | 8739 | 4 | 4 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0009 | 0/0 | 8739 | 4 | 3 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0010 | 0/0 | 8739 | 4 | 4 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0011 | 0/0 | 8739 | 3 | 3 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0012 | 0/0 | 8739 | 3 | 0 | 3 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0013 | 0/0 | 8739 | 3 | 0 | 3 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0014 | 0/0 | 8739 | 2 | 2 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0015 | 0/0 | 8739 | 2 | 2 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0016 | 0/0 | 8739 | 2 | 1 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0017 | 0/0 | 8739 | 2 | 0 | 0 | 2 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0018 | 0/0 | 8739 | 2 | 0 | 0 | 2 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0019 | 0/0 | 8739 | 2 | 0 | 0 | 2 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0020 | 0/0 | 8739 | 2 | 0 | 2 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0021 | 0/0 | 8739 | 2 | 0 | 0 | 0 | 1 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0022 | 0/0 | 8739 | 2 | 0 | 0 | 0 | 0 | 2 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0023 | 0/0 | 8739 | 2 | 2 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0024 | 0/0 | 8739 | 2 | 0 | 0 | 2 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0025 | 0/0 | 8739 | 2 | 2 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0026 | 0/0 | 8739 | 2 | 1 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0027 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0028 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0029 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0030 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0031 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0032 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0033 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0034 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0035 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0036 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0037 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0038 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0039 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0040 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0041 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0042 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0043 | 0/0 | 8739 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0044 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0045 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0046 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0047 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0048 | 0/0 | 8739 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0049 | 0/0 | 8739 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0050 | 0/0 | 8739 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0051 | 0/0 | 8739 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0052 | 0/0 | 8739 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0053 | 0/0 | 8739 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0054 | 0/0 | 8739 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0055 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0056 | 0/0 | 8739 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0057 | 0/0 | 8739 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0058 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0059 | 0/0 | 8739 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0060 | 0/0 | 8739 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0061 | 0/0 | 8739 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0062 | 0/0 | 8739 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0063 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0064 | 0/0 | 8739 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0065 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0066 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0067 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0068 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0069 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| c0070 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| 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 | 0/1 | 2189 | 99 | 3 | 28 | 47 | 5 | 15 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0002 | 0/0 | 2189 | 35 | 15 | 0 | 13 | 1 | 6 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0003 | 0/0 | 2189 | 14 | 0 | 2 | 8 | 0 | 4 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0004 | 0/0 | 2190 | 14 | 5 | 4 | 3 | 1 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0005 | 0/0 | 2191 | 11 | 9 | 2 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0006 | 0/0 | 2189 | 10 | 8 | 2 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0007 | 0/0 | 2190 | 7 | 1 | 3 | 3 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0008 | 0/0 | 2190 | 5 | 5 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0009 | 0/0 | 2190 | 4 | 4 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0010 | 0/0 | 2192 | 3 | 3 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0011 | 0/0 | 2189 | 2 | 2 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0012 | 0/0 | 2191 | 2 | 2 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0013 | 0/0 | 2189 | 2 | 0 | 1 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0014 | 0/0 | 2190 | 2 | 2 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0015 | 1/0 | 2189 | 2 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0016 | 0/0 | 2190 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0017 | 0/0 | 2190 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0018 | 0/0 | 2190 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0019 | 0/0 | 2189 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0020 | 0/0 | 2189 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0021 | 0/0 | 2190 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0022 | 0/0 | 2190 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0023 | 0/0 | 2191 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0024 | 0/0 | 2192 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0025 | 0/0 | 2189 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0026 | 0/0 | 2190 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0027 | 0/0 | 2191 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0028 | 0/0 | 2190 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0029 | 0/0 | 2192 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0030 | 0/0 | 2189 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0031 | 0/0 | 2189 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0032 | 0/0 | 2192 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0033 | 0/0 | 2191 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0034 | 0/0 | 2189 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0035 | 0/0 | 2189 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0036 | 0/0 | 2189 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0037 | 0/0 | 2190 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0038 | 0/0 | 2190 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| t0039 | 0/0 | 2189 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| 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 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0051 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0072 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0108 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0111 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0124 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0134 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0147 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0148 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0153 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0157 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0158 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0159 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0166 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0188 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0192 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0202 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0204 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0206 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0208 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0216 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0233 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| g0236 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| 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 | 0/0 | 8739 | 46 | 2 | 15 | 14 | 4 | 11 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0003 | 0/1 | 8739 | 20 | 4 | 5 | 8 | 0 | 2 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0008 | 0/0 | 8739 | 4 | 4 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0009 | 0/0 | 8739 | 4 | 3 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0011 | 0/0 | 8739 | 3 | 3 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0014 | 0/0 | 8739 | 2 | 2 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0021 | 0/0 | 8739 | 2 | 0 | 0 | 0 | 1 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0028 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0031 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0033 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0035 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0036 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0045 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0048 | 0/0 | 8739 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0050 | 0/0 | 8739 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0052 | 0/0 | 8739 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0054 | 0/0 | 8739 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0057 | 0/0 | 8739 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0058 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0002 | 0/0 | 8739 | 33 | 1 | 3 | 26 | 1 | 2 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0015 | 0/0 | 8739 | 2 | 2 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0023 | 0/0 | 8739 | 2 | 2 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0029 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0032 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0034 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0037 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0038 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0039 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0040 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0041 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0055 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0059 | 0/0 | 8739 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0060 | 0/0 | 8739 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0004 | 1/0 | 8739 | 18 | 9 | 2 | 1 | 1 | 4 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0006 | 0/0 | 8739 | 8 | 0 | 4 | 2 | 1 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0007 | 0/0 | 8739 | 6 | 4 | 2 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0010 | 0/0 | 8739 | 4 | 4 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0012 | 0/0 | 8739 | 3 | 0 | 3 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0013 | 0/0 | 8739 | 3 | 0 | 3 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0016 | 0/0 | 8739 | 2 | 1 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0044 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0062 | 0/0 | 8739 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0064 | 0/0 | 8739 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0065 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0004c0005 | 0/0 | 8739 | 14 | 1 | 1 | 11 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0005c0017 | 0/0 | 8739 | 2 | 0 | 0 | 2 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0005c0019 | 0/0 | 8739 | 2 | 0 | 0 | 2 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0006c0025 | 0/0 | 8739 | 2 | 2 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0007c0022 | 0/0 | 8739 | 2 | 0 | 0 | 0 | 0 | 2 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0008c0042 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0008c0063 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0009c0024 | 0/0 | 8739 | 2 | 0 | 0 | 2 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0010c0020 | 0/0 | 8739 | 2 | 0 | 2 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0011c0018 | 0/0 | 8739 | 2 | 0 | 0 | 2 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0012c0026 | 0/0 | 8739 | 2 | 1 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0013c0047 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0014c0053 | 0/0 | 8739 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0015c0049 | 0/0 | 8739 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0016c0056 | 0/0 | 8739 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0017c0061 | 0/0 | 8739 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0018c0030 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0019c0046 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0020c0043 | 0/0 | 8739 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0021c0067 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0022c0066 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0023c0051 | 0/0 | 8739 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0024c0068 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0025c0069 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0026c0070 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0027c0027 | 0/0 | 8739 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 10927 | 29 | 1 | 13 | 5 | 3 | 7 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0001t0002 | 0/0 | 10927 | 9 | 0 | 0 | 7 | 0 | 2 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0001t0003 | 0/0 | 10927 | 4 | 0 | 1 | 1 | 0 | 2 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0001t0005 | 0/0 | 10929 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0001t0013 | 0/0 | 10927 | 2 | 0 | 1 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0001t0030 | 0/0 | 10927 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0003t0001 | 0/1 | 10927 | 16 | 1 | 5 | 8 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0003t0005 | 0/0 | 10929 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0003t0006 | 0/0 | 10927 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0003t0017 | 0/0 | 10928 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0003t0032 | 0/0 | 10930 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0008t0006 | 0/0 | 10927 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0008t0025 | 0/0 | 10927 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0008t0028 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0008t0029 | 0/0 | 10930 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0009t0002 | 0/0 | 10927 | 2 | 1 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0009t0006 | 0/0 | 10927 | 2 | 2 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0011t0009 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0011t0010 | 0/0 | 10930 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0011t0022 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0014t0014 | 0/0 | 10928 | 2 | 2 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0021t0001 | 0/0 | 10927 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0021t0003 | 0/0 | 10927 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0028t0002 | 0/0 | 10927 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0031t0026 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0033t0005 | 0/0 | 10929 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0035t0009 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0036t0004 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0045t0006 | 0/0 | 10927 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0048t0001 | 0/0 | 10927 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0050t0001 | 0/0 | 10927 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0052t0002 | 0/0 | 10927 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0054t0001 | 0/0 | 10927 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0057t0001 | 0/0 | 10927 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0001c0058t0020 | 0/0 | 10927 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0002t0001 | 0/0 | 10927 | 24 | 0 | 2 | 21 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0002t0002 | 0/0 | 10927 | 4 | 0 | 0 | 3 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0002t0005 | 0/0 | 10929 | 2 | 1 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0002t0015 | 0/0 | 10927 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0002t0034 | 0/0 | 10927 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0002t0035 | 0/0 | 10927 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0015t0008 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0015t0010 | 0/0 | 10930 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0023t0007 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0023t0038 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0029t0027 | 0/0 | 10929 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0032t0009 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0034t0004 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0037t0023 | 0/0 | 10929 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0038t0004 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0039t0005 | 0/0 | 10929 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0040t0002 | 0/0 | 10927 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0041t0011 | 0/0 | 10927 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0055t0008 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0059t0005 | 0/0 | 10929 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0002c0060t0007 | 0/0 | 10928 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0004t0001 | 0/0 | 10927 | 4 | 0 | 1 | 1 | 0 | 2 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0004t0002 | 0/0 | 10927 | 7 | 6 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0004t0003 | 0/0 | 10927 | 2 | 0 | 1 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0004t0005 | 0/0 | 10929 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0004t0006 | 0/0 | 10927 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0004t0015 | 1/0 | 10927 | 1 | 0 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0004t0033 | 0/0 | 10929 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0004t0036 | 0/0 | 10927 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0006t0004 | 0/0 | 10928 | 8 | 0 | 4 | 2 | 1 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0007t0002 | 0/0 | 10927 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0007t0005 | 0/0 | 10929 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0007t0006 | 0/0 | 10927 | 4 | 2 | 2 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0010t0002 | 0/0 | 10927 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0010t0005 | 0/0 | 10929 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0010t0008 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0010t0024 | 0/0 | 10930 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0012t0001 | 0/0 | 10927 | 3 | 0 | 3 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0013t0007 | 0/0 | 10928 | 2 | 0 | 2 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0013t0016 | 0/0 | 10928 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0016t0002 | 0/0 | 10927 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0016t0037 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0044t0004 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0062t0007 | 0/0 | 10928 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0064t0004 | 0/0 | 10928 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0003c0065t0011 | 0/0 | 10927 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0004c0005t0001 | 0/0 | 10927 | 13 | 1 | 1 | 10 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0004c0005t0002 | 0/0 | 10927 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0005c0017t0003 | 0/0 | 10927 | 2 | 0 | 0 | 2 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0005c0019t0003 | 0/0 | 10927 | 2 | 0 | 0 | 2 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0006c0025t0009 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0006c0025t0018 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0007c0022t0001 | 0/0 | 10927 | 2 | 0 | 0 | 0 | 0 | 2 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0008c0042t0012 | 0/0 | 10929 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0008c0063t0012 | 0/0 | 10929 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0009c0024t0007 | 0/0 | 10928 | 2 | 0 | 0 | 2 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0010c0020t0001 | 0/0 | 10927 | 2 | 0 | 2 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0011c0018t0003 | 0/0 | 10927 | 2 | 0 | 0 | 2 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0012c0026t0002 | 0/0 | 10927 | 2 | 1 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0013c0047t0002 | 0/0 | 10927 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0014c0053t0039 | 0/0 | 10927 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0015c0049t0002 | 0/0 | 10927 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0016c0056t0001 | 0/0 | 10927 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0017c0061t0031 | 0/0 | 10927 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0018c0030t0008 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0019c0046t0010 | 0/0 | 10930 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0020c0043t0019 | 0/0 | 10927 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0021c0067t0004 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0022c0066t0021 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0023c0051t0003 | 0/0 | 10927 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0024c0068t0002 | 0/0 | 10927 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0025c0069t0005 | 0/0 | 10929 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0026c0070t0002 | 0/0 | 10927 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| a0027c0027t0008 | 0/0 | 10928 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | copy fasta | chr5 | 128252909 | 128543245 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0001g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0002g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0002g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0002g0072 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0002g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0002g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0002g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0002g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0002g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0002g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0003g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0003g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0003g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0003g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0005g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0013g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0013g0111 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0001t0030g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0003t0001g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0003t0001g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0003t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0003t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0003t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0003t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0003t0001g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0003t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0003t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0003t0001g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0003t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0003t0001g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0003t0001g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0003t0001g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0003t0001g0204 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0003t0001g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0003t0005g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0003t0006g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0003t0017g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0003t0032g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0008t0006g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0008t0025g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0008t0028g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0008t0029g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0009t0002g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0009t0002g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0009t0006g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0009t0006g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0011t0009g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0011t0010g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0011t0022g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0014t0014g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0014t0014g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0021t0001g0206 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0021t0003g0010 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0028t0002g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0031t0026g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0033t0005g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0035t0009g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0036t0004g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0045t0006g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0048t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0050t0001g0208 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0052t0002g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0054t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0057t0001g0202 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0001c0058t0020g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0002g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0002g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0002g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0002g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0005g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0005g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0015g0134 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0034g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0002t0035g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0015t0008g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0015t0010g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0023t0007g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0023t0038g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0029t0027g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0032t0009g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0034t0004g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0037t0023g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0038t0004g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0039t0005g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0040t0002g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0041t0011g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0055t0008g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0059t0005g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0002c0060t0007g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0004t0001g0124 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0004t0001g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0004t0001g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0004t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0004t0002g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0004t0002g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0004t0002g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0004t0002g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0004t0002g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0004t0002g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0004t0002g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0004t0003g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0004t0003g0012 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0004t0005g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0004t0006g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0004t0015g0166 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0004t0033g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0004t0036g0233 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0006t0004g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0006t0004g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0006t0004g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0006t0004g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0006t0004g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0006t0004g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0006t0004g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0006t0004g0051 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0007t0002g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0007t0005g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0007t0006g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0007t0006g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0007t0006g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0007t0006g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0010t0002g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0010t0005g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0010t0008g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0010t0024g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0012t0001g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0012t0001g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0012t0001g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0013t0007g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0013t0007g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0013t0016g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0016t0002g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0016t0037g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0044t0004g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0062t0007g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0064t0004g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0003c0065t0011g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0004c0005t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0004c0005t0001g0192 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0004c0005t0001g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0004c0005t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0004c0005t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0004c0005t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0004c0005t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0004c0005t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0004c0005t0001g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0004c0005t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0004c0005t0001g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0004c0005t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0004c0005t0001g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0004c0005t0002g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0005c0017t0003g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0005c0017t0003g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0005c0019t0003g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0005c0019t0003g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0006c0025t0009g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0006c0025t0018g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0007c0022t0001g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0007c0022t0001g0216 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0008c0042t0012g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0008c0063t0012g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0009c0024t0007g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0009c0024t0007g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0010c0020t0001g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0010c0020t0001g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0011c0018t0003g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0011c0018t0003g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0012c0026t0002g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0012c0026t0002g0108 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0013c0047t0002g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0014c0053t0039g0236 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0015c0049t0002g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0016c0056t0001g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0017c0061t0031g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0018c0030t0008g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0019c0046t0010g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0020c0043t0019g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0021c0067t0004g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0022c0066t0021g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0023c0051t0003g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0024c0068t0002g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0025c0069t0005g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0026c0070t0002g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| a0027c0027t0008g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0188 | EUR | GBR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG00099 | hp2 | a0004 | c0005 | t0001 | g0192 | EUR | GBR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG00140 | hp1 | a0003 | c0004 | t0036 | g0233 | EUR | GBR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0153 | EUR | GBR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG00323 | hp1 | a0001 | c0001 | t0001 | g0147 | EUR | FIN | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG00323 | hp2 | a0001 | c0021 | t0001 | g0206 | EUR | FIN | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0231 | EAS | CHS | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG00558 | hp2 | a0002 | c0002 | t0002 | g0078 | EAS | CHS | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG00609 | hp1 | a0002 | c0002 | t0001 | g0183 | EAS | CHS | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG00609 | hp2 | a0001 | c0001 | t0001 | g0226 | EAS | CHS | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG00639 | hp1 | a0002 | c0002 | t0005 | g0086 | AMR | PUR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0170 | AMR | PUR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG00735 | hp1 | a0001 | c0003 | t0001 | g0178 | AMR | PUR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG00735 | hp2 | a0010 | c0020 | t0001 | g0151 | AMR | PUR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG00741 | hp1 | a0003 | c0004 | t0003 | g0001 | AMR | PUR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0143 | AMR | PUR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01069 | hp1 | a0003 | c0007 | t0006 | g0055 | AMR | PUR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01069 | hp2 | a0001 | c0001 | t0001 | g0154 | AMR | PUR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01071 | hp1 | a0003 | c0007 | t0006 | g0056 | AMR | PUR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0144 | AMR | PUR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01074 | hp1 | a0003 | c0013 | t0016 | g0003 | AMR | PUR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01074 | hp2 | a0002 | c0002 | t0001 | g0135 | AMR | PUR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01081 | hp1 | a0001 | c0001 | t0003 | g0011 | AMR | PUR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01081 | hp2 | a0002 | c0059 | t0005 | g0092 | AMR | PUR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0145 | AMR | PUR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01106 | hp2 | a0001 | c0003 | t0001 | g0185 | AMR | PUR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01109 | hp1 | a0010 | c0020 | t0001 | g0149 | AMR | PUR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01109 | hp2 | a0001 | c0003 | t0001 | g0181 | AMR | PUR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01192 | hp1 | a0001 | c0003 | t0001 | g0136 | AMR | PUR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01192 | hp2 | a0003 | c0012 | t0001 | g0187 | AMR | PUR | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01256 | hp1 | a0003 | c0012 | t0001 | g0138 | AMR | CLM | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01256 | hp2 | a0003 | c0006 | t0004 | g0045 | AMR | CLM | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01258 | hp1 | a0003 | c0006 | t0004 | g0044 | AMR | CLM | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01258 | hp2 | a0003 | c0012 | t0001 | g0139 | AMR | CLM | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0164 | AMR | CLM | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01346 | hp2 | a0003 | c0013 | t0007 | g0171 | AMR | CLM | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0150 | AMR | CLM | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01358 | hp2 | a0003 | c0013 | t0007 | g0203 | AMR | CLM | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01361 | hp1 | a0004 | c0005 | t0001 | g0209 | AMR | CLM | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01361 | hp2 | a0003 | c0004 | t0001 | g0129 | AMR | CLM | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01496 | hp1 | a0020 | c0043 | t0019 | g0018 | AMR | CLM | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01496 | hp2 | a0003 | c0006 | t0004 | g0047 | AMR | CLM | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01516 | hp1 | a0001 | c0001 | t0013 | g0111 | EUR | IBS | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01516 | hp2 | a0012 | c0026 | t0002 | g0108 | EUR | IBS | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01884 | hp1 | a0003 | c0004 | t0002 | g0088 | AFR | ACB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01884 | hp2 | a0001 | c0036 | t0004 | g0032 | AFR | ACB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0156 | AMR | PEL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01928 | hp2 | a0001 | c0001 | t0001 | g0184 | AMR | PEL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01952 | hp1 | a0001 | c0003 | t0001 | g0190 | AMR | PEL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01952 | hp2 | a0001 | c0001 | t0013 | g0110 | AMR | PEL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0229 | AMR | PEL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01975 | hp2 | a0002 | c0002 | t0001 | g0125 | AMR | PEL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01978 | hp1 | a0016 | c0056 | t0001 | g0189 | AMR | PEL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0172 | AMR | PEL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0142 | AMR | PEL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG01981 | hp2 | a0003 | c0062 | t0007 | g0137 | AMR | PEL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02055 | hp1 | a0003 | c0004 | t0002 | g0089 | AFR | ACB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02055 | hp2 | a0003 | c0044 | t0004 | g0053 | AFR | ACB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02056 | hp1 | a0001 | c0001 | t0002 | g0070 | EAS | KHV | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02056 | hp2 | a0001 | c0003 | t0001 | g0180 | EAS | KHV | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02083 | hp1 | a0002 | c0002 | t0002 | g0074 | EAS | KHV | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0227 | EAS | KHV | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02129 | hp1 | a0023 | c0051 | t0003 | g0005 | EAS | KHV | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02129 | hp2 | a0002 | c0060 | t0007 | g0228 | EAS | KHV | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02145 | hp1 | a0001 | c0003 | t0001 | g0201 | AFR | ACB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02145 | hp2 | a0001 | c0028 | t0002 | g0022 | AFR | ACB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02155 | hp1 | a0002 | c0002 | t0001 | g0220 | EAS | CDX | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02155 | hp2 | a0004 | c0005 | t0001 | g0193 | EAS | CDX | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02257 | hp1 | a0012 | c0026 | t0002 | g0107 | AFR | ACB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02257 | hp2 | a0002 | c0029 | t0027 | g0118 | AFR | ACB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02258 | hp1 | a0002 | c0037 | t0023 | g0034 | AFR | ACB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02258 | hp2 | a0003 | c0010 | t0002 | g0099 | AFR | ACB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02273 | hp1 | a0003 | c0006 | t0004 | g0050 | AMR | PEL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0186 | AMR | PEL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02280 | hp1 | a0003 | c0010 | t0005 | g0094 | AFR | ACB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02280 | hp2 | a0002 | c0023 | t0038 | g0235 | AFR | ACB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02523 | hp1 | a0001 | c0003 | t0001 | g0177 | EAS | KHV | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02523 | hp2 | a0002 | c0002 | t0001 | g0221 | EAS | KHV | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02572 | hp1 | a0001 | c0011 | t0022 | g0061 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02572 | hp2 | a0003 | c0010 | t0024 | g0097 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02615 | hp1 | a0002 | c0040 | t0002 | g0041 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02615 | hp2 | a0001 | c0058 | t0020 | g0019 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02630 | hp1 | a0001 | c0008 | t0028 | g0113 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02630 | hp2 | a0025 | c0069 | t0005 | g0109 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02647 | hp1 | a0002 | c0041 | t0011 | g0029 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02647 | hp2 | a0001 | c0031 | t0026 | g0116 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0148 | SAS | PJL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02683 | hp2 | a0001 | c0001 | t0002 | g0082 | SAS | PJL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02698 | hp1 | a0001 | c0057 | t0001 | g0202 | SAS | PJL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02698 | hp2 | a0001 | c0001 | t0003 | g0002 | SAS | PJL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02717 | hp1 | a0001 | c0003 | t0032 | g0141 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02717 | hp2 | a0001 | c0009 | t0006 | g0030 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02809 | hp1 | a0006 | c0025 | t0018 | g0017 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02809 | hp2 | a0003 | c0004 | t0002 | g0083 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02818 | hp1 | a0003 | c0065 | t0011 | g0084 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02818 | hp2 | a0002 | c0015 | t0010 | g0025 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02886 | hp1 | a0001 | c0008 | t0029 | g0117 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02886 | hp2 | a0003 | c0016 | t0037 | g0234 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02895 | hp1 | a0003 | c0007 | t0005 | g0052 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02895 | hp2 | a0003 | c0007 | t0002 | g0033 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02896 | hp1 | a0003 | c0004 | t0005 | g0062 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02896 | hp2 | a0003 | c0010 | t0008 | g0085 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02922 | hp1 | a0008 | c0042 | t0012 | g0054 | AFR | ESN | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02922 | hp2 | a0003 | c0004 | t0006 | g0095 | AFR | ESN | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02965 | hp1 | a0026 | c0070 | t0002 | g0105 | AFR | ESN | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02965 | hp2 | a0018 | c0030 | t0008 | g0021 | AFR | ESN | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02970 | hp1 | a0001 | c0014 | t0014 | g0114 | AFR | ESN | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02970 | hp2 | a0003 | c0004 | t0002 | g0103 | AFR | ESN | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03017 | hp1 | a0007 | c0022 | t0001 | g0216 | SAS | PJL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03017 | hp2 | a0003 | c0004 | t0001 | g0155 | SAS | PJL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03041 | hp1 | a0003 | c0007 | t0006 | g0057 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03041 | hp2 | a0001 | c0009 | t0006 | g0028 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03139 | hp1 | a0001 | c0003 | t0005 | g0100 | AFR | ESN | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03139 | hp2 | a0001 | c0001 | t0005 | g0087 | AFR | ESN | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03195 | hp1 | a0001 | c0011 | t0010 | g0104 | AFR | ESN | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03195 | hp2 | a0001 | c0045 | t0006 | g0026 | AFR | ESN | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03209 | hp1 | a0001 | c0008 | t0025 | g0115 | AFR | MSL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03209 | hp2 | a0027 | c0027 | t0008 | g0020 | AFR | MSL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03239 | hp1 | a0003 | c0004 | t0001 | g0124 | SAS | PJL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03239 | hp2 | a0003 | c0006 | t0004 | g0042 | SAS | PJL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03486 | hp1 | a0002 | c0038 | t0004 | g0035 | AFR | MSL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03486 | hp2 | a0008 | c0063 | t0012 | g0096 | AFR | MSL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03491 | hp1 | a0003 | c0016 | t0002 | g0043 | SAS | PJL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03491 | hp2 | a0007 | c0022 | t0001 | g0131 | SAS | PJL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03516 | hp1 | a0001 | c0008 | t0006 | g0023 | AFR | ESN | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03516 | hp2 | a0003 | c0007 | t0006 | g0058 | AFR | ESN | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03540 | hp1 | a0006 | c0025 | t0009 | g0091 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03540 | hp2 | a0021 | c0067 | t0004 | g0098 | AFR | GWD | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03579 | hp1 | a0002 | c0023 | t0007 | g0121 | AFR | MSL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03579 | hp2 | a0003 | c0004 | t0002 | g0063 | AFR | MSL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03654 | hp1 | a0001 | c0003 | t0001 | g0140 | SAS | PJL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03654 | hp2 | a0001 | c0001 | t0001 | g0159 | SAS | PJL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0152 | SAS | PJL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03669 | hp2 | a0003 | c0004 | t0003 | g0012 | SAS | PJL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03831 | hp1 | a0014 | c0053 | t0039 | g0236 | SAS | BEB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03831 | hp2 | a0001 | c0009 | t0002 | g0049 | SAS | BEB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03834 | hp1 | a0003 | c0004 | t0002 | g0090 | SAS | BEB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03834 | hp2 | a0001 | c0001 | t0003 | g0013 | SAS | BEB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0127 | SAS | BEB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03927 | hp2 | a0002 | c0002 | t0002 | g0068 | SAS | BEB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG04115 | hp1 | a0001 | c0003 | t0017 | g0004 | SAS | STU | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0146 | SAS | STU | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0158 | SAS | STU | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG04199 | hp2 | a0001 | c0001 | t0002 | g0072 | SAS | STU | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG04204 | hp1 | a0001 | c0050 | t0001 | g0208 | SAS | STU | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0157 | SAS | STU | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18522 | hp1 | a0002 | c0055 | t0008 | g0093 | AFR | YRI | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18522 | hp2 | a0003 | c0004 | t0002 | g0064 | AFR | YRI | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18906 | hp1 | a0022 | c0066 | t0021 | g0101 | AFR | YRI | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18906 | hp2 | a0002 | c0015 | t0008 | g0024 | AFR | YRI | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18940 | hp1 | a0017 | c0061 | t0031 | g0169 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18940 | hp2 | a0005 | c0019 | t0003 | g0009 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18949 | hp1 | a0004 | c0005 | t0001 | g0205 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18949 | hp2 | a0002 | c0002 | t0001 | g0217 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18951 | hp1 | a0015 | c0049 | t0002 | g0066 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18951 | hp2 | a0004 | c0005 | t0001 | g0191 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18956 | hp1 | a0002 | c0002 | t0001 | g0211 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18956 | hp2 | a0004 | c0005 | t0001 | g0199 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18960 | hp1 | a0002 | c0002 | t0001 | g0161 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18960 | hp2 | a0005 | c0017 | t0003 | g0015 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18962 | hp1 | a0001 | c0003 | t0001 | g0230 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18962 | hp2 | a0001 | c0001 | t0002 | g0079 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18964 | hp1 | a0002 | c0002 | t0001 | g0210 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18964 | hp2 | a0003 | c0006 | t0004 | g0046 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18967 | hp1 | a0001 | c0001 | t0002 | g0076 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18967 | hp2 | a0004 | c0005 | t0001 | g0196 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18972 | hp1 | a0003 | c0004 | t0001 | g0160 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18972 | hp2 | a0001 | c0001 | t0030 | g0119 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18975 | hp1 | a0002 | c0002 | t0001 | g0213 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18975 | hp2 | a0001 | c0001 | t0002 | g0073 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18977 | hp1 | a0001 | c0052 | t0002 | g0081 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18977 | hp2 | a0004 | c0005 | t0001 | g0197 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18984 | hp1 | a0002 | c0002 | t0001 | g0212 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18984 | hp2 | a0005 | c0017 | t0003 | g0008 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0126 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18986 | hp2 | a0002 | c0002 | t0001 | g0215 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18988 | hp1 | a0001 | c0001 | t0002 | g0075 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18988 | hp2 | a0001 | c0003 | t0001 | g0173 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18990 | hp1 | a0009 | c0024 | t0007 | g0123 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18990 | hp2 | a0002 | c0002 | t0001 | g0165 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18992 | hp1 | a0002 | c0002 | t0001 | g0219 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18992 | hp2 | a0003 | c0064 | t0004 | g0080 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18993 | hp1 | a0005 | c0019 | t0003 | g0006 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18993 | hp2 | a0001 | c0048 | t0001 | g0120 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18998 | hp1 | a0004 | c0005 | t0001 | g0195 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18998 | hp2 | a0002 | c0002 | t0035 | g0133 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18999 | hp1 | a0002 | c0002 | t0001 | g0218 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA18999 | hp2 | a0001 | c0001 | t0002 | g0071 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19003 | hp1 | a0011 | c0018 | t0003 | g0007 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19003 | hp2 | a0009 | c0024 | t0007 | g0122 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19010 | hp1 | a0002 | c0002 | t0001 | g0163 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19010 | hp2 | a0001 | c0054 | t0001 | g0194 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0162 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19011 | hp2 | a0002 | c0002 | t0002 | g0067 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19056 | hp1 | a0004 | c0005 | t0001 | g0214 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19056 | hp2 | a0004 | c0005 | t0001 | g0232 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19057 | hp1 | a0002 | c0002 | t0001 | g0207 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19057 | hp2 | a0011 | c0018 | t0003 | g0016 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19058 | hp1 | a0002 | c0002 | t0001 | g0224 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19058 | hp2 | a0001 | c0003 | t0001 | g0182 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19063 | hp1 | a0004 | c0005 | t0002 | g0069 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19063 | hp2 | a0002 | c0002 | t0034 | g0167 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19065 | hp1 | a0002 | c0002 | t0001 | g0168 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19065 | hp2 | a0001 | c0003 | t0001 | g0176 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19074 | hp1 | a0001 | c0003 | t0001 | g0174 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19074 | hp2 | a0002 | c0002 | t0001 | g0132 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19077 | hp1 | a0004 | c0005 | t0001 | g0198 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19077 | hp2 | a0001 | c0001 | t0002 | g0077 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19079 | hp1 | a0003 | c0006 | t0004 | g0048 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19079 | hp2 | a0002 | c0002 | t0001 | g0223 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19084 | hp1 | a0001 | c0001 | t0003 | g0014 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19084 | hp2 | a0002 | c0002 | t0001 | g0225 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19085 | hp1 | a0002 | c0002 | t0001 | g0222 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19085 | hp2 | a0001 | c0003 | t0001 | g0179 | EAS | JPT | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19240 | hp1 | a0001 | c0033 | t0005 | g0037 | AFR | YRI | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA19240 | hp2 | a0002 | c0039 | t0005 | g0031 | AFR | YRI | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA20129 | hp1 | a0001 | c0003 | t0006 | g0060 | AFR | ASW | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA20129 | hp2 | a0002 | c0002 | t0005 | g0102 | AFR | ASW | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA20752 | hp1 | a0002 | c0002 | t0015 | g0134 | EUR | TSI | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA20752 | hp2 | a0003 | c0006 | t0004 | g0051 | EUR | TSI | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA20905 | hp1 | a0002 | c0002 | t0001 | g0130 | SAS | GIH | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA20905 | hp2 | a0001 | c0021 | t0003 | g0010 | SAS | GIH | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02109 | hp1 | a0004 | c0005 | t0001 | g0200 | AFR | ACB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02109 | hp2 | a0002 | c0032 | t0009 | g0039 | AFR | ACB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02559 | hp1 | a0019 | c0046 | t0010 | g0027 | AFR | ACB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG02559 | hp2 | a0001 | c0011 | t0009 | g0065 | AFR | ACB | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03471 | hp1 | a0002 | c0034 | t0004 | g0038 | AFR | MSL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG03471 | hp2 | a0001 | c0035 | t0009 | g0036 | AFR | MSL | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG06807 | hp1 | a0001 | c0014 | t0014 | g0112 | AFR | USA | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| HG06807 | hp2 | a0024 | c0068 | t0002 | g0106 | AFR | USA | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0175 | AFR | USA | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA20300 | hp2 | a0013 | c0047 | t0002 | g0059 | AFR | USA | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA21309 | hp1 | a0003 | c0004 | t0033 | g0128 | AFR | LWK | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| NA21309 | hp2 | a0001 | c0009 | t0002 | g0040 | AFR | LWK | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0003 | t0001 | g0204 | REF | REF | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| homoSapiens_grch38 | hp1 | a0003 | c0004 | t0015 | g0166 | REF | REF | FBN2_chr5_128252909_128543245 | FBN2 | chr5 | 128252909 | 128543245 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:128259766
|
A | T | 1 | a0020 | 1 | HG01496.hp1 | missense_variant | MODERATE | c.8428T>A | p.Ser2810Thr | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 65/65 | 9070/10927 | 8428/8739 | 2810/2912 | chr5 | 128259766 | ||
| chr5:128261749
|
G | A | 1 | a0007 | 2 | HG03017.hp1 HG03491.hp2 |
missense_variant | MODERATE | c.8351C>T | p.Pro2784Leu | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 64/65 | 8993/10927 | 8351/8739 | 2784/2912 | chr5 | 128261749 | ||
| chr5:128261753
|
C | G | 1 | a0022 | 1 | NA18906.hp1 | missense_variant | MODERATE | c.8347G>C | p.Glu2783Gln | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 64/65 | 8989/10927 | 8347/8739 | 2783/2912 | chr5 | 128261753 | ||
| chr5:128273941
|
G | A | 4 | a0004a0008a0011others(1): Show | 19 | HG00099.hp2 HG01361.hp1 HG02109.hp1 others(16): Show |
missense_variant | MODERATE | c.7739C>T | p.Ser2580Leu | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/65 | 8381/10927 | 7739/8739 | 2580/2912 | chr5 | 128273941 | ||
| chr5:128278684
|
C | A | 1 | a0019 | 1 | HG02559.hp1 | missense_variant | MODERATE | c.7296G>T | p.Gln2432His | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 57/65 | 7938/10927 | 7296/8739 | 2432/2912 | chr5 | 128278684 | ||
| chr5:128286799
|
T | C | 6 | a0002a0007a0021others(3): Show | 54 | HG00558.hp2 HG00609.hp1 HG00639.hp1 others(51): Show |
missense_variant | MODERATE | c.6931A>G | p.Met2311Val | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/65 | 7573/10927 | 6931/8739 | 2311/2912 | chr5 | 128286799 | ||
| chr5:128287347
|
T | A | 1 | a0018 | 1 | HG02965.hp2 | missense_variant | MODERATE | c.6841A>T | p.Ile2281Phe | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 54/65 | 7483/10927 | 6841/8739 | 2281/2912 | chr5 | 128287347 | ||
| chr5:128287355
|
G | A | 1 | a0017 | 1 | NA18940.hp1 | missense_variant | MODERATE | c.6833C>T | p.Thr2278Met | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 54/65 | 7475/10927 | 6833/8739 | 2278/2912 | chr5 | 128287355 | ||
| chr5:128287388
|
C | T | 1 | a0016 | 1 | HG01978.hp1 | missense_variant | MODERATE | c.6800G>A | p.Arg2267His | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 54/65 | 7442/10927 | 6800/8739 | 2267/2912 | chr5 | 128287388 | ||
| chr5:128345408
|
C | A | 1 | a0013 | 1 | NA20300.hp2 | missense_variant | MODERATE | c.3166G>T | p.Ala1056Ser | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 24/65 | 3808/10927 | 3166/8739 | 1056/2912 | chr5 | 128345408 | ||
| chr5:128345460
|
C | G | 1 | a0015 | 1 | NA18951.hp1 | missense_variant | MODERATE | c.3114G>C | p.Glu1038Asp | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 24/65 | 3756/10927 | 3114/8739 | 1038/2912 | chr5 | 128345460 | ||
| chr5:128345534
|
G | A | 1 | a0009 | 2 | NA18990.hp1 NA19003.hp2 |
missense_variant | MODERATE | c.3040C>T | p.His1014Tyr | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 24/65 | 3682/10927 | 3040/8739 | 1014/2912 | chr5 | 128345534 | ||
| chr5:128349443
|
C | T | 16 | a0001a0002a0004others(13): Show | 171 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(168): Show |
missense_variant | MODERATE | c.2893G>A | p.Val965Ile | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/65 | 3535/10927 | 2893/8739 | 965/2912 | chr5 | 128349443 | ||
| chr5:128366419
|
C | T | 1 | a0010 | 2 | HG00735.hp2 HG01109.hp1 |
missense_variant | MODERATE | c.2260G>A | p.Gly754Ser | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 17/65 | 2902/10927 | 2260/8739 | 754/2912 | chr5 | 128366419 | ||
| chr5:128374681
|
C | T | 1 | a0014 | 1 | HG03831.hp1 | missense_variant | MODERATE | c.2042G>A | p.Arg681His | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/65 | 2684/10927 | 2042/8739 | 681/2912 | chr5 | 128374681 | ||
| chr5:128393315
|
T | C | 1 | a0006 | 2 | HG02809.hp1 HG03540.hp1 |
missense_variant | MODERATE | c.1285A>G | p.Ser429Gly | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 10/65 | 1927/10927 | 1285/8739 | 429/2912 | chr5 | 128393315 | ||
| chr5:128464822
|
A | G | 3 | a0005a0011a0023 | 7 | HG02129.hp1 NA18940.hp2 NA18960.hp2 others(4): Show |
missense_variant | MODERATE | c.728T>C | p.Ile243Thr | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/65 | 1370/10927 | 728/8739 | 243/2912 | chr5 | 128464822 | ||
| chr5:128536477
|
C | T | 1 | a0013 | 1 | NA20300.hp2 | missense_variant | MODERATE | c.262G>A | p.Val88Met | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/65 | 904/10927 | 262/8739 | 88/2912 | chr5 | 128536477 | ||
| chr5:128537401
|
G | A | 4 | a0012a0024a0025others(1): Show | 5 | HG01516.hp2 HG02257.hp1 HG02630.hp2 others(2): Show |
missense_variant | MODERATE | c.203C>T | p.Ala68Val | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/65 | 845/10927 | 203/8739 | 68/2912 | chr5 | 128537401 | ||
| chr5:128537494
|
G | T | 1 | a0027 | 1 | HG03209.hp2 | missense_variant | MODERATE | c.110C>A | p.Pro37Gln | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/65 | 752/10927 | 110/8739 | 37/2912 | chr5 | 128537494 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:128259461
|
G | C | 5 | a0001c0031a0001c0036a0002c0023others(2): Show | 6 | HG01884.hp2 HG02280.hp2 HG02647.hp2 others(3): Show |
synonymous_variant | LOW | c.8733C>G | p.Leu2911Leu | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 65/65 | 9375/10927 | 8733/8739 | 2911/2912 | chr5 | 128259461 | ||
| chr5:128259503
|
C | T | 1 | a0002c0059 | 1 | HG01081.hp2 | synonymous_variant | LOW | c.8691G>A | p.Gly2897Gly | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 65/65 | 9333/10927 | 8691/8739 | 2897/2912 | chr5 | 128259503 | ||
| chr5:128259674
|
G | A | 1 | a0001c0050 | 1 | HG04204.hp1 | synonymous_variant | LOW | c.8520C>T | p.Asn2840Asn | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 65/65 | 9162/10927 | 8520/8739 | 2840/2912 | chr5 | 128259674 | ||
| chr5:128261826
|
G | A | 13 | a0001c0031a0001c0036a0002c0023others(10): Show | 24 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(21): Show |
synonymous_variant | LOW | c.8274C>T | p.Ser2758Ser | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 64/65 | 8916/10927 | 8274/8739 | 2758/2912 | chr5 | 128261826 | ||
| chr5:128263463
|
G | A | 2 | a0001c0045a0001c0058 | 2 | HG02615.hp2 HG03195.hp2 |
synonymous_variant | LOW | c.8154C>T | p.Leu2718Leu | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 63/65 | 8796/10927 | 8154/8739 | 2718/2912 | chr5 | 128263463 | ||
| chr5:128273856
|
G | A | 3 | a0002c0039a0002c0041a0003c0065 | 3 | HG02647.hp1 HG02818.hp1 NA19240.hp2 |
synonymous_variant | LOW | c.7824C>T | p.Thr2608Thr | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/65 | 8466/10927 | 7824/8739 | 2608/2912 | chr5 | 128273856 | ||
| chr5:128278780
|
A | G | 48 | a0001c0001a0001c0008a0001c0009others(45): Show | 168 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(165): Show |
synonymous_variant | LOW | c.7200T>C | p.Ser2400Ser | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 57/65 | 7842/10927 | 7200/8739 | 2400/2912 | chr5 | 128278780 | ||
| chr5:128286782
|
G | T | 1 | a0001c0057 | 1 | HG02698.hp1 | synonymous_variant | LOW | c.6948C>A | p.Ile2316Ile | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/65 | 7590/10927 | 6948/8739 | 2316/2912 | chr5 | 128286782 | ||
| chr5:128289149
|
G | A | 3 | a0002c0032a0002c0040a0002c0041 | 3 | HG02109.hp2 HG02615.hp1 HG02647.hp1 |
synonymous_variant | LOW | c.6615C>T | p.Asp2205Asp | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 52/65 | 7257/10927 | 6615/8739 | 2205/2912 | chr5 | 128289149 | ||
| chr5:128301428
|
T | C | 3 | a0002c0032a0002c0040a0002c0041 | 3 | HG02109.hp2 HG02615.hp1 HG02647.hp1 |
synonymous_variant | LOW | c.6000A>G | p.Leu2000Leu | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 47/65 | 6642/10927 | 6000/8739 | 2000/2912 | chr5 | 128301428 | ||
| chr5:128303067
|
A | G | 13 | a0001c0021a0001c0033a0001c0054others(10): Show | 30 | HG00099.hp2 HG00323.hp2 HG01361.hp1 others(27): Show |
synonymous_variant | LOW | c.5823T>C | p.His1941His | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 46/65 | 6465/10927 | 5823/8739 | 1941/2912 | chr5 | 128303067 | ||
| chr5:128332928
|
G | A | 1 | a0003c0044 | 1 | HG02055.hp2 | synonymous_variant | LOW | c.4206C>T | p.Asn1402Asn | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 32/65 | 4848/10927 | 4206/8739 | 1402/2912 | chr5 | 128332928 | ||
| chr5:128334720
|
T | G | 3 | a0001c0011a0001c0014a0001c0031 | 6 | HG02559.hp2 HG02572.hp1 HG02647.hp2 others(3): Show |
splice_region_variant&synonymous_variant | LOW | c.4098A>C | p.Thr1366Thr | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/65 | 4740/10927 | 4098/8739 | 1366/2912 | chr5 | 128334720 | ||
| chr5:128335540
|
G | A | 2 | a0005c0019a0011c0018 | 4 | NA18940.hp2 NA18993.hp1 NA19003.hp1 others(1): Show |
synonymous_variant | LOW | c.3762C>T | p.Asp1254Asp | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 29/65 | 4404/10927 | 3762/8739 | 1254/2912 | chr5 | 128335540 | ||
| chr5:128344455
|
A | G | 1 | a0002c0032 | 1 | HG02109.hp2 | synonymous_variant | LOW | c.3273T>C | p.Asn1091Asn | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/65 | 3915/10927 | 3273/8739 | 1091/2912 | chr5 | 128344455 | ||
| chr5:128345559
|
C | T | 2 | a0003c0012a0003c0062 | 4 | HG01192.hp2 HG01256.hp1 HG01258.hp2 others(1): Show |
synonymous_variant | LOW | c.3015G>A | p.Leu1005Leu | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 24/65 | 3657/10927 | 3015/8739 | 1005/2912 | chr5 | 128345559 | ||
| chr5:128350902
|
G | A | 2 | a0001c0045a0019c0046 | 2 | HG02559.hp1 HG03195.hp2 |
synonymous_variant | LOW | c.2778C>T | p.Ala926Ala | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 21/65 | 3420/10927 | 2778/8739 | 926/2912 | chr5 | 128350902 | ||
| chr5:128464794
|
C | T | 1 | a0001c0052 | 1 | NA18977.hp1 | synonymous_variant | LOW | c.756G>A | p.Glu252Glu | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/65 | 1398/10927 | 756/8739 | 252/2912 | chr5 | 128464794 | ||
| chr5:128527882
|
A | G | 1 | a0001c0050 | 1 | HG04204.hp1 | synonymous_variant | LOW | c.522T>C | p.Tyr174Tyr | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/65 | 1164/10927 | 522/8739 | 174/2912 | chr5 | 128527882 | ||
| chr5:128530629
|
A | G | 1 | a0015c0049 | 1 | NA18951.hp1 | synonymous_variant | LOW | c.402T>C | p.Ser134Ser | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 3/65 | 1044/10927 | 402/8739 | 134/2912 | chr5 | 128530629 | ||
| chr5:128536442
|
A | G | 1 | a0001c0048 | 1 | NA18993.hp2 | synonymous_variant | LOW | c.297T>C | p.Pro99Pro | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/65 | 939/10927 | 297/8739 | 99/2912 | chr5 | 128536442 | ||
| chr5:128537421
|
G | C | 20 | a0001c0009a0001c0033a0001c0035others(17): Show | 37 | HG01069.hp1 HG01071.hp1 HG01256.hp2 others(34): Show |
synonymous_variant | LOW | c.183C>G | p.Pro61Pro | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/65 | 825/10927 | 183/8739 | 61/2912 | chr5 | 128537421 | ||
| chr5:128537493
|
C | T | 26 | a0001c0008a0001c0009a0001c0014others(23): Show | 47 | HG01069.hp1 HG01071.hp1 HG01256.hp2 others(44): Show |
synonymous_variant | LOW | c.111G>A | p.Pro37Pro | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/65 | 753/10927 | 111/8739 | 37/2912 | chr5 | 128537493 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:128257923
|
C | T | 2 | a0002c0041t0011a0003c0065t0011 | 2 | HG02647.hp1 HG02818.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1532G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 65/65 | 1532 | chr5 | 128257923 | |||||
| chr5:128258033
|
C | CT | 14 | a0001c0001t0005a0001c0003t0005a0001c0008t0029others(11): Show | 15 | HG00639.hp1 HG01081.hp2 HG02257.hp2 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*1421dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 65/65 | 1421 | chr5 | 128258033 | |||||
| chr5:128258033
|
C | CTT | 4 | a0001c0003t0032a0001c0011t0010a0002c0015t0010others(1): Show | 4 | HG02559.hp1 HG02717.hp1 HG02818.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1420_*1421dupAA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 65/65 | 1421 | chr5 | 128258033 | |||||
| chr5:128258040
|
C | T | 54 | a0001c0001t0005a0001c0003t0005a0001c0003t0006others(51): Show | 69 | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(66): Show |
3_prime_UTR_variant | MODIFIER | c.*1415G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 65/65 | 1415 | chr5 | 128258040 | |||||
| chr5:128258058
|
A | C | 1 | a0017c0061t0031 | 1 | NA18940.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1397T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 65/65 | 1397 | chr5 | 128258058 | |||||
| chr5:128258178
|
C | T | 18 | a0001c0031t0026a0001c0036t0004a0002c0023t0007others(15): Show | 27 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(24): Show |
3_prime_UTR_variant | MODIFIER | c.*1277G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 65/65 | 1277 | chr5 | 128258178 | |||||
| chr5:128258323
|
T | C | 2 | a0001c0011t0022a0001c0014t0014 | 3 | HG02572.hp1 HG02970.hp1 HG06807.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1132A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 65/65 | 1132 | chr5 | 128258323 | |||||
| chr5:128258722
|
A | T | 61 | a0001c0001t0005a0001c0003t0005a0001c0003t0006others(58): Show | 76 | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(73): Show |
3_prime_UTR_variant | MODIFIER | c.*733T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 65/65 | 733 | chr5 | 128258722 | |||||
| chr5:128258820
|
T | C | 107 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(104): Show | 234 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(231): Show |
3_prime_UTR_variant | MODIFIER | c.*635A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 65/65 | 635 | chr5 | 128258820 | |||||
| chr5:128258936
|
T | C | 1 | a0002c0037t0023 | 1 | HG02258.hp1 | 3_prime_UTR_variant | MODIFIER | c.*519A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 65/65 | 519 | chr5 | 128258936 | |||||
| chr5:128258950
|
A | C | 1 | a0003c0016t0037 | 1 | HG02886.hp2 | 3_prime_UTR_variant | MODIFIER | c.*505T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 65/65 | 505 | chr5 | 128258950 | |||||
| chr5:128259131
|
G | GA | 47 | a0001c0001t0005a0001c0003t0005a0001c0003t0017others(44): Show | 58 | HG00639.hp1 HG01074.hp1 HG01081.hp2 others(55): Show |
3_prime_UTR_variant | MODIFIER | c.*323dupT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 65/65 | 323 | chr5 | 128259131 | |||||
| chr5:128259131
|
G | GAA | 5 | a0001c0008t0029a0003c0004t0033a0003c0010t0024others(2): Show | 5 | HG02572.hp2 HG02886.hp1 HG02922.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*322_*323dupTT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 65/65 | 323 | chr5 | 128259131 | |||||
| chr5:128259181
|
G | A | 1 | a0002c0002t0034 | 1 | NA19063.hp2 | 3_prime_UTR_variant | MODIFIER | c.*274C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 65/65 | 274 | chr5 | 128259181 | |||||
| chr5:128259182
|
A | G | 1 | a0022c0066t0021 | 1 | NA18906.hp1 | 3_prime_UTR_variant | MODIFIER | c.*273T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 65/65 | 273 | chr5 | 128259182 | |||||
| chr5:128259336
|
G | A | 1 | a0002c0002t0035 | 1 | NA18998.hp2 | 3_prime_UTR_variant | MODIFIER | c.*119C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 65/65 | 119 | chr5 | 128259336 | |||||
| chr5:128537627
|
C | G | 1 | a0001c0058t0020 | 1 | HG02615.hp2 | 5_prime_UTR_variant | MODIFIER | c.-24G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/65 | 24 | chr5 | 128537627 | |||||
| chr5:128537712
|
C | T | 1 | a0020c0043t0019 | 1 | HG01496.hp1 | 5_prime_UTR_variant | MODIFIER | c.-109G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/65 | 109 | chr5 | 128537712 | |||||
| chr5:128537776
|
C | G | 1 | a0006c0025t0018 | 1 | HG02809.hp1 | 5_prime_UTR_variant | MODIFIER | c.-173G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/65 | 173 | chr5 | 128537776 | |||||
| chr5:128537853
|
C | G | 1 | a0001c0001t0030 | 1 | NA18972.hp2 | 5_prime_UTR_variant | MODIFIER | c.-250G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/65 | 250 | chr5 | 128537853 | |||||
| chr5:128537865
|
G | A | 1 | a0001c0001t0013 | 2 | HG01516.hp1 HG01952.hp2 |
5_prime_UTR_variant | MODIFIER | c.-262C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/65 | 262 | chr5 | 128537865 | |||||
| chr5:128537912
|
T | C | 80 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(77): Show | 120 | HG00558.hp2 HG00639.hp1 HG00741.hp1 others(117): Show |
5_prime_UTR_variant | MODIFIER | c.-309A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/65 | 309 | chr5 | 128537912 | |||||
| chr5:128538038
|
G | A | 6 | a0001c0008t0025a0001c0008t0028a0001c0008t0029others(3): Show | 7 | HG02257.hp2 HG02630.hp1 HG02647.hp2 others(4): Show |
5_prime_UTR_variant | MODIFIER | c.-435C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/65 | 435 | chr5 | 128538038 | |||||
| chr5:128538051
|
G | A | 1 | a0003c0004t0036 | 1 | HG00140.hp1 | 5_prime_UTR_variant | MODIFIER | c.-448C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/65 | 448 | chr5 | 128538051 | |||||
| chr5:128538114
|
C | T | 80 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(77): Show | 120 | HG00558.hp2 HG00639.hp1 HG00741.hp1 others(117): Show |
5_prime_UTR_variant | MODIFIER | c.-511G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/65 | 511 | chr5 | 128538114 | |||||
| chr5:128538125
|
G | A | 1 | a0003c0016t0037 | 1 | HG02886.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-522C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/65 | chr5 | 128538125 | ||||||
| chr5:128538176
|
G | A | 1 | a0002c0023t0038 | 1 | HG02280.hp2 | 5_prime_UTR_variant | MODIFIER | c.-573C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/65 | 573 | chr5 | 128538176 | |||||
| chr5:128538228
|
C | G | 9 | a0001c0001t0003a0001c0003t0017a0001c0021t0003others(6): Show | 16 | HG00741.hp1 HG01074.hp1 HG01081.hp1 others(13): Show |
5_prime_UTR_variant | MODIFIER | c.-625G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/65 | 625 | chr5 | 128538228 | |||||
| chr5:128538231
|
T | C | 1 | a0014c0053t0039 | 1 | HG03831.hp1 | 5_prime_UTR_variant | MODIFIER | c.-628A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/65 | 628 | chr5 | 128538231 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:128259919
|
G | T | 3 | a0001c0011t0022g0061a0001c0014t0014g0112a0001c0014t0014g0114 | 3 | HG02572.hp1 HG02970.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.8365-90C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 64/64 | chr5 | 128259919 | ||||||
| chr5:128260100
|
G | C | 1 | a0002c0015t0008g0024 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.8365-271C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 64/64 | chr5 | 128260100 | ||||||
| chr5:128260224
|
T | C | 3 | a0003c0004t0033g0128a0008c0042t0012g0054a0008c0063t0012g0096 | 3 | HG02922.hp1 HG03486.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.8365-395A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 64/64 | chr5 | 128260224 | ||||||
| chr5:128260368
|
C | G | 1 | a0001c0003t0001g0181 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.8365-539G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 64/64 | chr5 | 128260368 | ||||||
| chr5:128260397
|
G | A | 1 | a0001c0001t0002g0071 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.8365-568C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 64/64 | chr5 | 128260397 | ||||||
| chr5:128260453
|
T | C | 1 | a0003c0044t0004g0053 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.8365-624A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 64/64 | chr5 | 128260453 | ||||||
| chr5:128260613
|
G | A | 1 | a0003c0004t0001g0155 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.8365-784C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 64/64 | chr5 | 128260613 | ||||||
| chr5:128260638
|
A | G | 1 | a0003c0010t0008g0085 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.8365-809T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 64/64 | chr5 | 128260638 | ||||||
| chr5:128260794
|
CT | C | 10 | a0001c0011t0009g0065a0001c0035t0009g0036a0002c0032t0009g0039others(7): Show | 10 | HG02109.hp2 HG02559.hp2 HG02809.hp1 others(7): Show |
intron_variant | MODIFIER | c.8364+941delA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 64/64 | chr5 | 128260794 | ||||||
| chr5:128260796
|
G | A | 1 | a0001c0035t0009g0036 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.8364+940C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 64/64 | chr5 | 128260796 | ||||||
| chr5:128260894
|
C | T | 3 | a0001c0011t0022g0061a0001c0014t0014g0112a0001c0014t0014g0114 | 3 | HG02572.hp1 HG02970.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.8364+842G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 64/64 | chr5 | 128260894 | ||||||
| chr5:128261216
|
G | C | 2 | a0001c0003t0032g0141a0001c0033t0005g0037 | 2 | HG02717.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.8364+520C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 64/64 | chr5 | 128261216 | ||||||
| chr5:128261253
|
C | T | 5 | a0001c0031t0026g0116a0001c0036t0004g0032a0002c0023t0007g0121others(2): Show | 5 | HG01884.hp2 HG02280.hp2 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.8364+483G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 64/64 | chr5 | 128261253 | ||||||
| chr5:128261395
|
T | C | 1 | a0003c0013t0007g0203 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.8364+341A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 64/64 | chr5 | 128261395 | ||||||
| chr5:128261570
|
T | A | 16 | a0002c0060t0007g0228a0003c0006t0004g0042a0003c0006t0004g0044others(13): Show | 16 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(13): Show |
intron_variant | MODIFIER | c.8364+166A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 64/64 | chr5 | 128261570 | ||||||
| chr5:128261665
|
C | T | 1 | a0001c0008t0028g0113 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.8364+71G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 64/64 | chr5 | 128261665 | ||||||
| chr5:128261693
|
T | C | 2 | a0002c0041t0011g0029a0003c0065t0011g0084 | 2 | HG02647.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.8364+43A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 64/64 | chr5 | 128261693 | ||||||
| chr5:128262032
|
A | T | 1 | a0002c0002t0001g0168 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.8193-125T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 63/64 | chr5 | 128262032 | ||||||
| chr5:128262400
|
A | C | 3 | a0001c0011t0022g0061a0001c0014t0014g0112a0001c0014t0014g0114 | 3 | HG02572.hp1 HG02970.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.8193-493T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 63/64 | chr5 | 128262400 | ||||||
| chr5:128262492
|
T | C | 6 | a0001c0031t0026g0116a0001c0036t0004g0032a0002c0023t0007g0121others(3): Show | 6 | HG01884.hp2 HG02280.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.8193-585A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 63/64 | chr5 | 128262492 | ||||||
| chr5:128262524
|
C | T | 2 | a0002c0055t0008g0093a0027c0027t0008g0020 | 2 | HG03209.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.8193-617G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 63/64 | chr5 | 128262524 | ||||||
| chr5:128262829
|
G | T | 2 | a0001c0003t0032g0141a0001c0033t0005g0037 | 2 | HG02717.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.8192+596C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 63/64 | chr5 | 128262829 | ||||||
| chr5:128262848
|
C | T | 3 | a0001c0011t0022g0061a0001c0014t0014g0112a0001c0014t0014g0114 | 3 | HG02572.hp1 HG02970.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.8192+577G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 63/64 | chr5 | 128262848 | ||||||
| chr5:128262887
|
T | C | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.8192+538A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 63/64 | chr5 | 128262887 | ||||||
| chr5:128262951
|
T | C | 6 | a0001c0031t0026g0116a0001c0036t0004g0032a0002c0023t0007g0121others(3): Show | 6 | HG01884.hp2 HG02280.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.8192+474A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 63/64 | chr5 | 128262951 | ||||||
| chr5:128263104
|
C | T | 1 | a0003c0007t0005g0052 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.8192+321G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 63/64 | chr5 | 128263104 | ||||||
| chr5:128263113
|
C | T | 1 | a0001c0003t0001g0204 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.8192+312G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 63/64 | chr5 | 128263113 | ||||||
| chr5:128263181
|
G | A | 3 | a0003c0012t0001g0138a0003c0012t0001g0139a0003c0012t0001g0187 | 3 | HG01192.hp2 HG01256.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.8192+244C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 63/64 | chr5 | 128263181 | ||||||
| chr5:128263320
|
C | T | 5 | a0003c0006t0004g0046a0003c0006t0004g0048a0003c0064t0004g0080others(2): Show | 5 | NA18964.hp2 NA18990.hp1 NA18992.hp2 others(2): Show |
intron_variant | MODIFIER | c.8192+105G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 63/64 | chr5 | 128263320 | ||||||
| chr5:128263345
|
C | A | 14 | a0001c0001t0005g0087a0001c0003t0005g0100a0001c0008t0029g0117others(11): Show | 14 | HG00639.hp1 HG01081.hp2 HG02257.hp2 others(11): Show |
intron_variant | MODIFIER | c.8192+80G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 63/64 | chr5 | 128263345 | ||||||
| chr5:128263835
|
T | C | 16 | a0001c0011t0009g0065a0001c0031t0026g0116a0001c0035t0009g0036others(13): Show | 16 | HG01884.hp2 HG02109.hp2 HG02280.hp2 others(13): Show |
intron_variant | MODIFIER | c.7961-179A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128263835 | ||||||
| chr5:128264061
|
G | T | 1 | a0024c0068t0002g0106 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.7961-405C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128264061 | ||||||
| chr5:128264342
|
A | AC | 232 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(229): Show | 232 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
intron_variant | MODIFIER | c.7961-687dupG | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128264342 | ||||||
| chr5:128264440
|
G | A | 1 | a0022c0066t0021g0101 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.7961-784C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128264440 | ||||||
| chr5:128264726
|
T | C | 50 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(47): Show | 50 | HG00099.hp2 HG00558.hp1 HG00609.hp2 others(47): Show |
intron_variant | MODIFIER | c.7961-1070A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128264726 | ||||||
| chr5:128264756
|
G | A | 7 | a0001c0031t0026g0116a0001c0036t0004g0032a0002c0023t0007g0121others(4): Show | 7 | HG01884.hp2 HG02280.hp2 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.7961-1100C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128264756 | ||||||
| chr5:128264855
|
A | G | 70 | a0001c0001t0005g0087a0001c0003t0005g0100a0001c0003t0006g0060others(67): Show | 70 | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(67): Show |
intron_variant | MODIFIER | c.7961-1199T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128264855 | ||||||
| chr5:128264965
|
T | G | 18 | a0001c0011t0009g0065a0001c0031t0026g0116a0001c0035t0009g0036others(15): Show | 18 | HG01884.hp2 HG02109.hp2 HG02280.hp2 others(15): Show |
intron_variant | MODIFIER | c.7961-1309A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128264965 | ||||||
| chr5:128265051
|
A | T | 7 | a0001c0031t0026g0116a0001c0036t0004g0032a0002c0023t0007g0121others(4): Show | 7 | HG01884.hp2 HG02280.hp2 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.7961-1395T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128265051 | ||||||
| chr5:128265087
|
C | T | 12 | a0001c0003t0006g0060a0001c0008t0006g0023a0001c0008t0025g0115others(9): Show | 12 | HG01069.hp1 HG01071.hp1 HG02630.hp1 others(9): Show |
intron_variant | MODIFIER | c.7961-1431G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128265087 | ||||||
| chr5:128265180
|
A | G | 1 | a0003c0004t0002g0090 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.7961-1524T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128265180 | ||||||
| chr5:128265444
|
A | G | 19 | a0001c0001t0005g0087a0001c0003t0005g0100a0001c0003t0032g0141others(16): Show | 19 | HG00639.hp1 HG01081.hp2 HG02257.hp2 others(16): Show |
intron_variant | MODIFIER | c.7961-1788T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128265444 | ||||||
| chr5:128265856
|
C | A | 3 | a0001c0021t0001g0206a0012c0026t0002g0107a0012c0026t0002g0108 | 3 | HG00323.hp2 HG01516.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.7961-2200G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128265856 | ||||||
| chr5:128265863
|
G | C | 3 | a0001c0021t0001g0206a0012c0026t0002g0107a0012c0026t0002g0108 | 3 | HG00323.hp2 HG01516.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.7961-2207C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128265863 | ||||||
| chr5:128265978
|
TC | T | 2 | a0003c0044t0004g0053a0021c0067t0004g0098 | 2 | HG02055.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.7961-2323delG | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128265978 | ||||||
| chr5:128266156
|
G | A | 2 | a0001c0001t0001g0147a0001c0001t0001g0148 | 2 | HG00323.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.7961-2500C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128266156 | ||||||
| chr5:128266391
|
A | G | 2 | a0008c0042t0012g0054a0008c0063t0012g0096 | 2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.7961-2735T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128266391 | ||||||
| chr5:128266420
|
C | T | 5 | a0001c0031t0026g0116a0001c0036t0004g0032a0002c0023t0007g0121others(2): Show | 5 | HG01884.hp2 HG02280.hp2 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.7961-2764G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128266420 | ||||||
| chr5:128266944
|
G | T | 1 | a0002c0002t0001g0222 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.7961-3288C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128266944 | ||||||
| chr5:128267133
|
T | A | 2 | a0002c0055t0008g0093a0027c0027t0008g0020 | 2 | HG03209.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.7961-3477A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128267133 | ||||||
| chr5:128267145
|
G | A | 2 | a0008c0042t0012g0054a0008c0063t0012g0096 | 2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.7961-3489C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128267145 | ||||||
| chr5:128267176
|
T | G | 3 | a0003c0004t0002g0088a0003c0004t0002g0089a0003c0010t0002g0099 | 3 | HG01884.hp1 HG02055.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.7961-3520A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128267176 | ||||||
| chr5:128267181
|
T | A | 19 | a0001c0001t0005g0087a0001c0003t0005g0100a0001c0003t0032g0141others(16): Show | 19 | HG00639.hp1 HG01081.hp2 HG02257.hp2 others(16): Show |
intron_variant | MODIFIER | c.7961-3525A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128267181 | ||||||
| chr5:128267443
|
G | A | 1 | a0001c0003t0001g0181 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.7961-3787C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128267443 | ||||||
| chr5:128267667
|
T | TG | 67 | a0001c0001t0005g0087a0001c0003t0005g0100a0001c0003t0006g0060others(64): Show | 67 | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(64): Show |
intron_variant | MODIFIER | c.7961-4012_7961-401 others(5): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128267667 | ||||||
| chr5:128267709
|
T | C | 2 | a0002c0032t0009g0039a0003c0016t0037g0234 | 2 | HG02109.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.7961-4053A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128267709 | ||||||
| chr5:128267851
|
C | T | 2 | a0009c0024t0007g0122a0009c0024t0007g0123 | 2 | NA18990.hp1 NA19003.hp2 |
intron_variant | MODIFIER | c.7960+4148G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128267851 | ||||||
| chr5:128267882
|
A | C | 1 | a0002c0002t0001g0135 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.7960+4117T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128267882 | ||||||
| chr5:128267905
|
G | A | 1 | a0002c0015t0008g0024 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.7960+4094C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128267905 | ||||||
| chr5:128267970
|
A | G | 1 | a0003c0007t0006g0058 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.7960+4029T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128267970 | ||||||
| chr5:128268067
|
C | T | 6 | a0003c0004t0001g0124a0003c0004t0001g0129a0003c0012t0001g0138others(3): Show | 6 | HG01192.hp2 HG01256.hp1 HG01258.hp2 others(3): Show |
intron_variant | MODIFIER | c.7960+3932G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128268067 | ||||||
| chr5:128268360
|
T | G | 1 | a0002c0015t0008g0024 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.7960+3639A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128268360 | ||||||
| chr5:128268448
|
C | G | 1 | a0003c0016t0037g0234 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.7960+3551G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128268448 | ||||||
| chr5:128268457
|
C | A | 37 | a0001c0001t0001g0172a0001c0001t0001g0186a0001c0001t0001g0188others(34): Show | 37 | HG00099.hp1 HG00609.hp1 HG01975.hp2 others(34): Show |
intron_variant | MODIFIER | c.7960+3542G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128268457 | ||||||
| chr5:128268610
|
G | A | 1 | a0001c0052t0002g0081 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.7960+3389C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128268610 | ||||||
| chr5:128269141
|
G | A | 5 | a0001c0003t0032g0141a0001c0011t0010g0104a0001c0033t0005g0037others(2): Show | 5 | HG02559.hp1 HG02717.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.7960+2858C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128269141 | ||||||
| chr5:128269162
|
T | C | 74 | a0001c0001t0005g0087a0001c0003t0005g0100a0001c0003t0006g0060others(71): Show | 74 | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(71): Show |
intron_variant | MODIFIER | c.7960+2837A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128269162 | ||||||
| chr5:128269213
|
G | A | 2 | a0003c0044t0004g0053a0021c0067t0004g0098 | 2 | HG02055.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.7960+2786C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128269213 | ||||||
| chr5:128269221
|
C | A | 3 | a0001c0011t0022g0061a0001c0014t0014g0112a0001c0014t0014g0114 | 3 | HG02572.hp1 HG02970.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.7960+2778G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128269221 | ||||||
| chr5:128269260
|
C | CAAT | 4 | a0002c0041t0011g0029a0003c0044t0004g0053a0003c0065t0011g0084others(1): Show | 4 | HG02055.hp2 HG02647.hp1 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.7960+2736_7960+273 others(7): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128269260 | ||||||
| chr5:128269283
|
G | GTAA | 5 | a0001c0045t0006g0026a0001c0058t0020g0019a0002c0055t0008g0093others(2): Show | 5 | HG02615.hp2 HG03195.hp2 HG03209.hp2 others(2): Show |
intron_variant | MODIFIER | c.7960+2713_7960+271 others(7): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128269283 | ||||||
| chr5:128269283
|
G | GTAATAAT others(2): Show |
2 | a0008c0042t0012g0054a0008c0063t0012g0096 | 2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.7960+2707_7960+271 others(13): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128269283 | ||||||
| chr5:128269283
|
GTAA | G | 38 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0154others(35): Show | 38 | HG00099.hp1 HG00323.hp1 HG00609.hp1 others(35): Show |
intron_variant | MODIFIER | c.7960+2713_7960+271 others(7): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128269283 | ||||||
| chr5:128269340
|
C | T | 2 | a0008c0042t0012g0054a0008c0063t0012g0096 | 2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.7960+2659G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128269340 | ||||||
| chr5:128269378
|
G | T | 3 | a0001c0011t0022g0061a0001c0014t0014g0112a0001c0014t0014g0114 | 3 | HG02572.hp1 HG02970.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.7960+2621C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128269378 | ||||||
| chr5:128269458
|
C | A | 1 | a0003c0010t0002g0099 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.7960+2541G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128269458 | ||||||
| chr5:128269458
|
C | CA | 6 | a0001c0001t0001g0146a0001c0001t0002g0072a0002c0002t0001g0218others(3): Show | 6 | HG00741.hp1 HG03516.hp2 HG04115.hp2 others(3): Show |
intron_variant | MODIFIER | c.7960+2540dupT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128269458 | ||||||
| chr5:128269459
|
A | C | 3 | a0001c0001t0001g0126a0001c0001t0001g0170a0003c0016t0037g0234 | 3 | HG00639.hp2 HG02886.hp2 NA18986.hp1 |
intron_variant | MODIFIER | c.7960+2540T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128269459 | ||||||
| chr5:128269465
|
A | G | 1 | a0001c0003t0001g0181 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.7960+2534T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128269465 | ||||||
| chr5:128269701
|
A | G | 4 | a0001c0001t0001g0162a0001c0001t0001g0175a0001c0001t0002g0076others(1): Show | 4 | NA18967.hp1 NA18972.hp2 NA19011.hp1 others(1): Show |
intron_variant | MODIFIER | c.7960+2298T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128269701 | ||||||
| chr5:128269706
|
C | T | 1 | a0002c0015t0008g0024 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.7960+2293G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128269706 | ||||||
| chr5:128269719
|
A | T | 4 | a0001c0001t0001g0162a0001c0001t0001g0175a0001c0001t0002g0076others(1): Show | 4 | NA18967.hp1 NA18972.hp2 NA19011.hp1 others(1): Show |
intron_variant | MODIFIER | c.7960+2280T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128269719 | ||||||
| chr5:128269860
|
G | T | 1 | a0021c0067t0004g0098 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.7960+2139C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128269860 | ||||||
| chr5:128269863
|
C | T | 1 | a0002c0002t0002g0078 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.7960+2136G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128269863 | ||||||
| chr5:128269932
|
T | C | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.7960+2067A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128269932 | ||||||
| chr5:128270019
|
A | G | 7 | a0001c0001t0001g0143a0001c0001t0001g0146a0001c0001t0001g0152others(4): Show | 7 | HG00735.hp2 HG00741.hp2 HG01069.hp2 others(4): Show |
intron_variant | MODIFIER | c.7960+1980T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128270019 | ||||||
| chr5:128270125
|
G | T | 2 | a0008c0042t0012g0054a0008c0063t0012g0096 | 2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.7960+1874C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128270125 | ||||||
| chr5:128270370
|
A | G | 1 | a0001c0003t0001g0182 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.7960+1629T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128270370 | ||||||
| chr5:128270587
|
A | C | 1 | a0002c0002t0015g0134 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.7960+1412T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128270587 | ||||||
| chr5:128270711
|
G | C | 11 | a0001c0003t0001g0201a0001c0003t0001g0204a0003c0004t0001g0124others(8): Show | 11 | HG00099.hp2 HG01192.hp2 HG01256.hp1 others(8): Show |
intron_variant | MODIFIER | c.7960+1288C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128270711 | ||||||
| chr5:128270778
|
A | G | 2 | a0001c0001t0001g0126a0001c0001t0001g0127 | 2 | HG03927.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.7960+1221T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128270778 | ||||||
| chr5:128270929
|
T | G | 26 | a0001c0003t0006g0060a0001c0003t0032g0141a0001c0008t0006g0023others(23): Show | 26 | HG01069.hp1 HG01071.hp1 HG02109.hp2 others(23): Show |
intron_variant | MODIFIER | c.7960+1070A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128270929 | ||||||
| chr5:128270953
|
CT | C | 3 | a0003c0044t0004g0053a0018c0030t0008g0021a0022c0066t0021g0101 | 3 | HG02055.hp2 HG02965.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.7960+1045delA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128270953 | ||||||
| chr5:128271135
|
A | G | 22 | a0001c0001t0005g0087a0001c0003t0005g0100a0001c0008t0029g0117others(19): Show | 22 | HG00639.hp1 HG01081.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.7960+864T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128271135 | ||||||
| chr5:128271172
|
T | C | 56 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0162others(53): Show | 56 | HG00099.hp1 HG00741.hp1 HG01069.hp1 others(53): Show |
intron_variant | MODIFIER | c.7960+827A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128271172 | ||||||
| chr5:128271275
|
A | C | 1 | a0002c0039t0005g0031 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.7960+724T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128271275 | ||||||
| chr5:128271285
|
A | G | 2 | a0008c0042t0012g0054a0008c0063t0012g0096 | 2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.7960+714T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128271285 | ||||||
| chr5:128271504
|
A | T | 6 | a0001c0003t0032g0141a0001c0011t0010g0104a0001c0033t0005g0037others(3): Show | 6 | HG01884.hp2 HG02559.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.7960+495T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128271504 | ||||||
| chr5:128271791
|
G | A | 5 | a0001c0003t0032g0141a0001c0009t0006g0028a0001c0033t0005g0037others(2): Show | 5 | HG01884.hp2 HG02559.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.7960+208C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128271791 | ||||||
| chr5:128271856
|
C | T | 1 | a0001c0003t0032g0141 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.7960+143G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | 128271856 | ||||||
| chr5:128272242
|
T | C | 15 | a0002c0060t0007g0228a0003c0006t0004g0042a0003c0006t0004g0044others(12): Show | 15 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(12): Show |
intron_variant | MODIFIER | c.7841-124A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128272242 | ||||||
| chr5:128272286
|
G | C | 1 | a0003c0004t0033g0128 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.7841-168C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128272286 | ||||||
| chr5:128272440
|
A | G | 15 | a0002c0060t0007g0228a0003c0006t0004g0042a0003c0006t0004g0044others(12): Show | 15 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(12): Show |
intron_variant | MODIFIER | c.7841-322T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128272440 | ||||||
| chr5:128272463
|
C | CAT | 111 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0144others(108): Show | 111 | HG00140.hp1 HG00140.hp2 HG00558.hp1 others(108): Show |
intron_variant | MODIFIER | c.7841-347_7841-346d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128272463 | ||||||
| chr5:128272463
|
C | CATAT | 24 | a0001c0001t0001g0147a0001c0001t0005g0087a0001c0003t0001g0173others(21): Show | 24 | HG00323.hp1 HG00639.hp1 HG01081.hp2 others(21): Show |
intron_variant | MODIFIER | c.7841-349_7841-346d others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128272463 | ||||||
| chr5:128272463
|
C | CATATAT | 30 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0148others(27): Show | 30 | HG00099.hp2 HG00323.hp2 HG01346.hp1 others(27): Show |
intron_variant | MODIFIER | c.7841-351_7841-346d others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128272463 | ||||||
| chr5:128272463
|
C | CATATATA others(1): Show |
37 | a0001c0001t0001g0162a0001c0001t0001g0170a0001c0001t0001g0172others(34): Show | 37 | HG00099.hp1 HG00609.hp2 HG00639.hp2 others(34): Show |
intron_variant | MODIFIER | c.7841-353_7841-346d others(10): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128272463 | ||||||
| chr5:128272463
|
C | CATATATA others(3): Show |
6 | a0001c0001t0030g0119a0001c0050t0001g0208a0002c0015t0008g0024others(3): Show | 6 | HG03471.hp1 HG03486.hp1 HG04204.hp1 others(3): Show |
intron_variant | MODIFIER | c.7841-355_7841-346d others(12): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128272463 | ||||||
| chr5:128272463
|
C | CATATATA others(5): Show |
2 | a0008c0042t0012g0054a0008c0063t0012g0096 | 2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.7841-357_7841-346d others(14): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128272463 | ||||||
| chr5:128272463
|
C | CATATATA others(7): Show |
1 | a0001c0058t0020g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.7841-359_7841-346d others(16): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128272463 | ||||||
| chr5:128272652
|
G | A | 32 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0144others(29): Show | 32 | HG00140.hp2 HG00558.hp1 HG00639.hp1 others(29): Show |
intron_variant | MODIFIER | c.7841-534C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128272652 | ||||||
| chr5:128272720
|
T | C | 3 | a0001c0011t0022g0061a0001c0014t0014g0112a0001c0014t0014g0114 | 3 | HG02572.hp1 HG02970.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.7841-602A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128272720 | ||||||
| chr5:128272811
|
A | C | 1 | a0003c0004t0001g0129 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.7841-693T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128272811 | ||||||
| chr5:128272901
|
C | G | 2 | a0002c0055t0008g0093a0027c0027t0008g0020 | 2 | HG03209.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.7841-783G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128272901 | ||||||
| chr5:128272909
|
C | T | 3 | a0002c0039t0005g0031a0002c0041t0011g0029a0003c0065t0011g0084 | 3 | HG02647.hp1 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.7841-791G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128272909 | ||||||
| chr5:128273095
|
G | T | 1 | a0001c0003t0006g0060 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.7840+745C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128273095 | ||||||
| chr5:128273375
|
T | A | 3 | a0002c0039t0005g0031a0002c0041t0011g0029a0003c0065t0011g0084 | 3 | HG02647.hp1 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.7840+465A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128273375 | ||||||
| chr5:128273417
|
G | A | 15 | a0002c0060t0007g0228a0003c0006t0004g0042a0003c0006t0004g0044others(12): Show | 15 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(12): Show |
intron_variant | MODIFIER | c.7840+423C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128273417 | ||||||
| chr5:128273483
|
T | A | 1 | a0002c0040t0002g0041 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.7840+357A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128273483 | ||||||
| chr5:128273552
|
T | C | 32 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0144others(29): Show | 32 | HG00140.hp2 HG00558.hp1 HG00639.hp1 others(29): Show |
intron_variant | MODIFIER | c.7840+288A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128273552 | ||||||
| chr5:128273659
|
T | C | 1 | a0001c0001t0002g0079 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.7840+181A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128273659 | ||||||
| chr5:128273765
|
C | T | 3 | a0002c0015t0010g0025a0002c0055t0008g0093a0027c0027t0008g0020 | 3 | HG02818.hp2 HG03209.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.7840+75G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 61/64 | chr5 | 128273765 | ||||||
| chr5:128274301
|
C | T | 5 | a0001c0031t0026g0116a0002c0023t0007g0121a0002c0023t0038g0235others(2): Show | 5 | HG02280.hp2 HG02647.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.7711+266G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 60/64 | chr5 | 128274301 | ||||||
| chr5:128274310
|
C | T | 139 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(136): Show | 139 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(136): Show |
intron_variant | MODIFIER | c.7711+257G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 60/64 | chr5 | 128274310 | ||||||
| chr5:128274471
|
T | C | 1 | a0008c0042t0012g0054 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.7711+96A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 60/64 | chr5 | 128274471 | ||||||
| chr5:128274822
|
T | C | 3 | a0002c0039t0005g0031a0002c0041t0011g0029a0003c0065t0011g0084 | 3 | HG02647.hp1 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.7595-139A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 59/64 | chr5 | 128274822 | ||||||
| chr5:128275442
|
AT | A | 137 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(134): Show | 137 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.7594+595delA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 59/64 | chr5 | 128275442 | ||||||
| chr5:128275763
|
G | A | 1 | a0003c0044t0004g0053 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.7594+275C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 59/64 | chr5 | 128275763 | ||||||
| chr5:128275807
|
A | T | 40 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0162others(37): Show | 40 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(37): Show |
intron_variant | MODIFIER | c.7594+231T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 59/64 | chr5 | 128275807 | ||||||
| chr5:128275949
|
C | T | 1 | a0001c0014t0014g0114 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.7594+89G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 59/64 | chr5 | 128275949 | ||||||
| chr5:128276024
|
G | A | 1 | a0001c0001t0003g0014 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.7594+14C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 59/64 | chr5 | 128276024 | ||||||
| chr5:128276026
|
C | T | 1 | a0003c0004t0001g0129 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.7594+12G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 59/64 | chr5 | 128276026 | ||||||
| chr5:128276857
|
C | T | 3 | a0002c0002t0001g0130a0007c0022t0001g0131a0007c0022t0001g0216 | 3 | HG03017.hp1 HG03491.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.7472-697G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 58/64 | chr5 | 128276857 | ||||||
| chr5:128277094
|
A | G | 1 | a0001c0001t0002g0082 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.7471+786T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 58/64 | chr5 | 128277094 | ||||||
| chr5:128277181
|
A | G | 2 | a0001c0008t0028g0113a0003c0010t0008g0085 | 2 | HG02630.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.7471+699T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 58/64 | chr5 | 128277181 | ||||||
| chr5:128277200
|
A | T | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.7471+680T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 58/64 | chr5 | 128277200 | ||||||
| chr5:128277201
|
T | A | 2 | a0002c0055t0008g0093a0027c0027t0008g0020 | 2 | HG03209.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.7471+679A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 58/64 | chr5 | 128277201 | ||||||
| chr5:128277245
|
G | A | 2 | a0001c0008t0028g0113a0003c0010t0008g0085 | 2 | HG02630.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.7471+635C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 58/64 | chr5 | 128277245 | ||||||
| chr5:128277287
|
A | T | 168 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(165): Show | 168 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(165): Show |
intron_variant | MODIFIER | c.7471+593T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 58/64 | chr5 | 128277287 | ||||||
| chr5:128277321
|
A | G | 8 | a0002c0002t0001g0130a0002c0015t0008g0024a0002c0015t0010g0025others(5): Show | 8 | HG02818.hp2 HG03017.hp1 HG03209.hp2 others(5): Show |
intron_variant | MODIFIER | c.7471+559T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 58/64 | chr5 | 128277321 | ||||||
| chr5:128277556
|
G | A | 5 | a0002c0015t0008g0024a0002c0015t0010g0025a0002c0034t0004g0038others(2): Show | 5 | HG02818.hp2 HG03209.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.7471+324C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 58/64 | chr5 | 128277556 | ||||||
| chr5:128277601
|
G | T | 1 | a0002c0002t0001g0130 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.7471+279C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 58/64 | chr5 | 128277601 | ||||||
| chr5:128277607
|
G | T | 167 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(164): Show | 167 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(164): Show |
intron_variant | MODIFIER | c.7471+273C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 58/64 | chr5 | 128277607 | ||||||
| chr5:128277849
|
A | G | 1 | a0003c0044t0004g0053 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.7471+31T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 58/64 | chr5 | 128277849 | ||||||
| chr5:128278099
|
C | G | 168 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(165): Show | 168 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(165): Show |
intron_variant | MODIFIER | c.7346-94G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 57/64 | chr5 | 128278099 | ||||||
| chr5:128278870
|
G | T | 8 | a0002c0002t0001g0132a0002c0002t0001g0161a0002c0002t0001g0163others(5): Show | 8 | HG00558.hp2 NA18949.hp2 NA18960.hp1 others(5): Show |
intron_variant | MODIFIER | c.7139-29C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 56/64 | chr5 | 128278870 | ||||||
| chr5:128278874
|
C | T | 1 | a0001c0001t0013g0111 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.7139-33G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 56/64 | chr5 | 128278874 | ||||||
| chr5:128279623
|
G | A | 23 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0144others(20): Show | 23 | HG00140.hp2 HG00323.hp1 HG00558.hp1 others(20): Show |
intron_variant | MODIFIER | c.7138+569C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 56/64 | chr5 | 128279623 | ||||||
| chr5:128279730
|
TATA | T | 2 | a0001c0001t0001g0170a0014c0053t0039g0236 | 2 | HG00639.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.7138+459_7138+461d others(5): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 56/64 | chr5 | 128279730 | ||||||
| chr5:128280108
|
A | G | 1 | a0002c0015t0010g0025 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.7138+84T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 56/64 | chr5 | 128280108 | ||||||
| chr5:128280322
|
A | G | 20 | a0001c0021t0003g0010a0004c0005t0001g0191a0004c0005t0001g0192others(17): Show | 20 | HG00099.hp2 HG01361.hp1 HG02109.hp1 others(17): Show |
splice_region_variant&intron_variant | LOW | c.7013-5T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128280322 | ||||||
| chr5:128280353
|
C | T | 4 | a0002c0032t0009g0039a0002c0039t0005g0031a0002c0040t0002g0041others(1): Show | 4 | HG02109.hp2 HG02615.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.7013-36G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128280353 | ||||||
| chr5:128280447
|
T | A | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.7013-130A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128280447 | ||||||
| chr5:128280464
|
T | C | 1 | a0012c0026t0002g0108 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.7013-147A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128280464 | ||||||
| chr5:128280826
|
C | A | 168 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(165): Show | 168 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(165): Show |
intron_variant | MODIFIER | c.7013-509G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128280826 | ||||||
| chr5:128280852
|
T | C | 24 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0144others(21): Show | 24 | HG00140.hp2 HG00323.hp1 HG00558.hp1 others(21): Show |
intron_variant | MODIFIER | c.7013-535A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128280852 | ||||||
| chr5:128280908
|
C | T | 3 | a0001c0035t0009g0036a0006c0025t0009g0091a0006c0025t0018g0017 | 3 | HG02809.hp1 HG03471.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.7013-591G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128280908 | ||||||
| chr5:128280914
|
T | G | 1 | a0002c0002t0001g0165 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.7013-597A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128280914 | ||||||
| chr5:128281345
|
G | A | 1 | a0002c0015t0008g0024 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.7013-1028C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128281345 | ||||||
| chr5:128281573
|
T | A | 1 | a0002c0002t0002g0067 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.7013-1256A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128281573 | ||||||
| chr5:128281644
|
T | C | 207 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(204): Show | 207 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(204): Show |
intron_variant | MODIFIER | c.7013-1327A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128281644 | ||||||
| chr5:128281709
|
A | T | 14 | a0001c0001t0005g0087a0001c0008t0006g0023a0001c0008t0025g0115others(11): Show | 14 | HG02258.hp2 HG02559.hp2 HG02572.hp1 others(11): Show |
intron_variant | MODIFIER | c.7013-1392T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128281709 | ||||||
| chr5:128281814
|
T | A | 1 | a0002c0002t0001g0217 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.7013-1497A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128281814 | ||||||
| chr5:128281919
|
T | C | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.7013-1602A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128281919 | ||||||
| chr5:128281994
|
A | G | 14 | a0001c0001t0005g0087a0001c0008t0006g0023a0001c0008t0025g0115others(11): Show | 14 | HG02258.hp2 HG02559.hp2 HG02572.hp1 others(11): Show |
intron_variant | MODIFIER | c.7013-1677T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128281994 | ||||||
| chr5:128282078
|
T | A | 1 | a0001c0001t0002g0079 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.7013-1761A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128282078 | ||||||
| chr5:128282485
|
G | A | 45 | a0002c0002t0001g0125a0002c0002t0001g0130a0002c0002t0001g0132others(42): Show | 45 | HG00558.hp2 HG00609.hp1 HG00639.hp1 others(42): Show |
intron_variant | MODIFIER | c.7013-2168C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128282485 | ||||||
| chr5:128282538
|
T | A | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.7013-2221A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128282538 | ||||||
| chr5:128282792
|
C | T | 2 | a0001c0011t0010g0104a0003c0016t0037g0234 | 2 | HG02886.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.7013-2475G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128282792 | ||||||
| chr5:128282854
|
A | T | 1 | a0001c0021t0003g0010 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.7013-2537T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128282854 | ||||||
| chr5:128282949
|
C | T | 1 | a0002c0002t0001g0215 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.7013-2632G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128282949 | ||||||
| chr5:128282950
|
G | A | 21 | a0001c0001t0001g0162a0001c0001t0001g0172a0001c0001t0001g0175others(18): Show | 21 | HG00099.hp1 HG01081.hp1 HG01928.hp2 others(18): Show |
intron_variant | MODIFIER | c.7013-2633C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128282950 | ||||||
| chr5:128283195
|
A | G | 1 | a0001c0003t0001g0204 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.7013-2878T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128283195 | ||||||
| chr5:128284116
|
T | G | 3 | a0002c0032t0009g0039a0002c0040t0002g0041a0002c0041t0011g0029 | 3 | HG02109.hp2 HG02615.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.7012+2602A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128284116 | ||||||
| chr5:128284193
|
G | A | 1 | a0002c0002t0001g0221 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.7012+2525C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128284193 | ||||||
| chr5:128284202
|
G | A | 5 | a0002c0015t0008g0024a0002c0015t0010g0025a0002c0034t0004g0038others(2): Show | 5 | HG02818.hp2 HG03209.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.7012+2516C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128284202 | ||||||
| chr5:128284392
|
C | T | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.7012+2326G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128284392 | ||||||
| chr5:128284969
|
C | A | 1 | a0017c0061t0031g0169 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.7012+1749G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128284969 | ||||||
| chr5:128284972
|
A | G | 1 | a0017c0061t0031g0169 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.7012+1746T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128284972 | ||||||
| chr5:128285063
|
G | C | 5 | a0002c0015t0008g0024a0002c0015t0010g0025a0002c0034t0004g0038others(2): Show | 5 | HG02818.hp2 HG03209.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.7012+1655C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128285063 | ||||||
| chr5:128285206
|
A | AGTTT | 168 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(165): Show | 168 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(165): Show |
intron_variant | MODIFIER | c.7012+1508_7012+151 others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128285206 | ||||||
| chr5:128285226
|
C | T | 2 | a0003c0004t0033g0128a0003c0007t0005g0052 | 2 | HG02895.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.7012+1492G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128285226 | ||||||
| chr5:128285243
|
A | AT | 41 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0162others(38): Show | 41 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(38): Show |
intron_variant | MODIFIER | c.7012+1474dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128285243 | ||||||
| chr5:128285280
|
T | C | 2 | a0002c0002t0001g0135a0002c0002t0015g0134 | 2 | HG01074.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.7012+1438A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128285280 | ||||||
| chr5:128285348
|
T | C | 54 | a0002c0002t0001g0125a0002c0002t0001g0130a0002c0002t0001g0132others(51): Show | 54 | HG00558.hp2 HG00609.hp1 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.7012+1370A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128285348 | ||||||
| chr5:128285537
|
AAAAAGT | A | 10 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(7): Show | 10 | HG00639.hp1 HG01081.hp2 HG02257.hp2 others(7): Show |
intron_variant | MODIFIER | c.7012+1175_7012+118 others(10): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128285537 | ||||||
| chr5:128285580
|
G | A | 1 | a0001c0001t0001g0175 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.7012+1138C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128285580 | ||||||
| chr5:128285676
|
T | C | 3 | a0002c0032t0009g0039a0002c0040t0002g0041a0002c0041t0011g0029 | 3 | HG02109.hp2 HG02615.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.7012+1042A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128285676 | ||||||
| chr5:128285744
|
T | C | 8 | a0002c0015t0008g0024a0002c0015t0010g0025a0002c0032t0009g0039others(5): Show | 8 | HG02109.hp2 HG02615.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.7012+974A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128285744 | ||||||
| chr5:128285789
|
T | A | 1 | a0017c0061t0031g0169 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.7012+929A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128285789 | ||||||
| chr5:128285861
|
A | C | 1 | a0017c0061t0031g0169 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.7012+857T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128285861 | ||||||
| chr5:128286034
|
C | T | 1 | a0001c0009t0002g0040 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.7012+684G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128286034 | ||||||
| chr5:128286104
|
G | T | 14 | a0003c0006t0004g0042a0003c0006t0004g0044a0003c0006t0004g0045others(11): Show | 14 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.7012+614C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128286104 | ||||||
| chr5:128286213
|
G | T | 34 | a0002c0002t0001g0125a0002c0002t0001g0130a0002c0002t0001g0132others(31): Show | 34 | HG00558.hp2 HG00609.hp1 HG01074.hp2 others(31): Show |
intron_variant | MODIFIER | c.7012+505C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128286213 | ||||||
| chr5:128286284
|
T | G | 2 | a0001c0045t0006g0026a0001c0058t0020g0019 | 2 | HG02615.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.7012+434A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128286284 | ||||||
| chr5:128286434
|
A | T | 2 | a0001c0003t0006g0060a0013c0047t0002g0059 | 2 | NA20129.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.7012+284T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128286434 | ||||||
| chr5:128286602
|
C | T | 3 | a0001c0035t0009g0036a0006c0025t0009g0091a0006c0025t0018g0017 | 3 | HG02809.hp1 HG03471.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.7012+116G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128286602 | ||||||
| chr5:128286640
|
G | GATGATGT others(12): Show |
1 | a0001c0050t0001g0208 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.7012+59_7012+77dup others(19): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 55/64 | chr5 | 128286640 | ||||||
| chr5:128286917
|
G | GT | 54 | a0002c0002t0001g0125a0002c0002t0001g0130a0002c0002t0001g0132others(51): Show | 54 | HG00558.hp2 HG00609.hp1 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.6881-69dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 54/64 | chr5 | 128286917 | ||||||
| chr5:128286956
|
G | A | 12 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(9): Show | 12 | HG00639.hp1 HG01081.hp2 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.6881-107C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 54/64 | chr5 | 128286956 | ||||||
| chr5:128287055
|
C | A | 23 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0144others(20): Show | 23 | HG00140.hp2 HG00323.hp1 HG00558.hp1 others(20): Show |
intron_variant | MODIFIER | c.6881-206G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 54/64 | chr5 | 128287055 | ||||||
| chr5:128287208
|
T | C | 6 | a0001c0011t0009g0065a0001c0011t0010g0104a0001c0011t0022g0061others(3): Show | 6 | HG02559.hp2 HG02572.hp1 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.6880+100A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 54/64 | chr5 | 128287208 | ||||||
| chr5:128287291
|
C | T | 79 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(76): Show | 79 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(76): Show |
intron_variant | MODIFIER | c.6880+17G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 54/64 | chr5 | 128287291 | ||||||
| chr5:128287478
|
A | G | 54 | a0002c0002t0001g0125a0002c0002t0001g0130a0002c0002t0001g0132others(51): Show | 54 | HG00558.hp2 HG00609.hp1 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.6758-48T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 53/64 | chr5 | 128287478 | ||||||
| chr5:128287513
|
C | T | 54 | a0002c0002t0001g0125a0002c0002t0001g0130a0002c0002t0001g0132others(51): Show | 54 | HG00558.hp2 HG00609.hp1 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.6758-83G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 53/64 | chr5 | 128287513 | ||||||
| chr5:128287519
|
T | C | 5 | a0002c0015t0008g0024a0002c0015t0010g0025a0002c0034t0004g0038others(2): Show | 5 | HG02818.hp2 HG03209.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.6758-89A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 53/64 | chr5 | 128287519 | ||||||
| chr5:128287559
|
C | T | 2 | a0003c0004t0002g0088a0003c0004t0002g0089 | 2 | HG01884.hp1 HG02055.hp1 |
intron_variant | MODIFIER | c.6758-129G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 53/64 | chr5 | 128287559 | ||||||
| chr5:128287670
|
C | A | 1 | a0006c0025t0018g0017 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.6758-240G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 53/64 | chr5 | 128287670 | ||||||
| chr5:128287695
|
T | C | 1 | a0001c0003t0005g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.6758-265A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 53/64 | chr5 | 128287695 | ||||||
| chr5:128287738
|
T | C | 54 | a0002c0002t0001g0125a0002c0002t0001g0130a0002c0002t0001g0132others(51): Show | 54 | HG00558.hp2 HG00609.hp1 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.6758-308A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 53/64 | chr5 | 128287738 | ||||||
| chr5:128287801
|
A | G | 1 | a0003c0044t0004g0053 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.6758-371T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 53/64 | chr5 | 128287801 | ||||||
| chr5:128287874
|
G | A | 6 | a0003c0004t0002g0063a0003c0004t0002g0064a0003c0004t0002g0103others(3): Show | 6 | HG02895.hp2 HG02896.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.6758-444C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 53/64 | chr5 | 128287874 | ||||||
| chr5:128287886
|
CTA | C | 14 | a0003c0006t0004g0042a0003c0006t0004g0044a0003c0006t0004g0045others(11): Show | 14 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.6758-458_6758-457d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 53/64 | chr5 | 128287886 | ||||||
| chr5:128287916
|
G | C | 20 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0015t0008g0024others(17): Show | 20 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.6758-486C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 53/64 | chr5 | 128287916 | ||||||
| chr5:128287997
|
G | A | 1 | a0003c0004t0003g0012 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.6757+441C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 53/64 | chr5 | 128287997 | ||||||
| chr5:128288005
|
G | C | 54 | a0002c0002t0001g0125a0002c0002t0001g0130a0002c0002t0001g0132others(51): Show | 54 | HG00558.hp2 HG00609.hp1 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.6757+433C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 53/64 | chr5 | 128288005 | ||||||
| chr5:128288014
|
G | C | 54 | a0002c0002t0001g0125a0002c0002t0001g0130a0002c0002t0001g0132others(51): Show | 54 | HG00558.hp2 HG00609.hp1 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.6757+424C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 53/64 | chr5 | 128288014 | ||||||
| chr5:128288129
|
T | A | 20 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0015t0008g0024others(17): Show | 20 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(17): Show |
intron_variant | MODIFIER | c.6757+309A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 53/64 | chr5 | 128288129 | ||||||
| chr5:128288414
|
A | G | 1 | a0002c0023t0007g0121 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.6757+24T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 53/64 | chr5 | 128288414 | ||||||
| chr5:128288637
|
C | A | 3 | a0001c0008t0028g0113a0003c0010t0008g0085a0003c0065t0011g0084 | 3 | HG02630.hp1 HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.6638-80G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 52/64 | chr5 | 128288637 | ||||||
| chr5:128288788
|
A | C | 3 | a0001c0008t0028g0113a0003c0010t0008g0085a0003c0065t0011g0084 | 3 | HG02630.hp1 HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.6638-231T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 52/64 | chr5 | 128288788 | ||||||
| chr5:128288936
|
T | G | 54 | a0002c0002t0001g0125a0002c0002t0001g0130a0002c0002t0001g0132others(51): Show | 54 | HG00558.hp2 HG00609.hp1 HG00639.hp1 others(51): Show |
intron_variant | MODIFIER | c.6637+191A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 52/64 | chr5 | 128288936 | ||||||
| chr5:128289006
|
A | C | 1 | a0003c0006t0004g0051 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.6637+121T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 52/64 | chr5 | 128289006 | ||||||
| chr5:128289088
|
T | C | 7 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(4): Show | 7 | HG00735.hp2 HG00741.hp2 HG01069.hp2 others(4): Show |
intron_variant | MODIFIER | c.6637+39A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 52/64 | chr5 | 128289088 | ||||||
| chr5:128289269
|
C | G | 3 | a0002c0032t0009g0039a0002c0040t0002g0041a0002c0041t0011g0029 | 3 | HG02109.hp2 HG02615.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.6512-17G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 51/64 | chr5 | 128289269 | ||||||
| chr5:128289303
|
C | T | 1 | a0004c0005t0001g0232 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.6512-51G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 51/64 | chr5 | 128289303 | ||||||
| chr5:128289342
|
G | C | 12 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(9): Show | 12 | HG00639.hp1 HG01081.hp2 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.6512-90C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 51/64 | chr5 | 128289342 | ||||||
| chr5:128289564
|
C | A | 1 | a0004c0005t0001g0205 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.6512-312G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 51/64 | chr5 | 128289564 | ||||||
| chr5:128289712
|
A | G | 46 | a0002c0002t0001g0125a0002c0002t0001g0130a0002c0002t0001g0132others(43): Show | 46 | HG00558.hp2 HG00609.hp1 HG00639.hp1 others(43): Show |
intron_variant | MODIFIER | c.6511+170T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 51/64 | chr5 | 128289712 | ||||||
| chr5:128289725
|
T | C | 46 | a0002c0002t0001g0125a0002c0002t0001g0130a0002c0002t0001g0132others(43): Show | 46 | HG00558.hp2 HG00609.hp1 HG00639.hp1 others(43): Show |
intron_variant | MODIFIER | c.6511+157A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 51/64 | chr5 | 128289725 | ||||||
| chr5:128289775
|
AATATACT | A | 5 | a0002c0015t0008g0024a0002c0015t0010g0025a0002c0034t0004g0038others(2): Show | 5 | HG02818.hp2 HG03209.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.6511+100_6511+106d others(9): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 51/64 | chr5 | 128289775 | ||||||
| chr5:128289867
|
T | C | 41 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0162others(38): Show | 41 | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(38): Show |
intron_variant | MODIFIER | c.6511+15A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 51/64 | chr5 | 128289867 | ||||||
| chr5:128289973
|
A | G | 2 | a0002c0002t0001g0183a0002c0002t0001g0224 | 2 | HG00609.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.6446-26T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 50/64 | chr5 | 128289973 | ||||||
| chr5:128290387
|
T | C | 12 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(9): Show | 12 | HG00639.hp1 HG01081.hp2 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.6445+345A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 50/64 | chr5 | 128290387 | ||||||
| chr5:128290398
|
C | T | 2 | a0001c0001t0001g0147a0001c0001t0001g0148 | 2 | HG00323.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.6445+334G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 50/64 | chr5 | 128290398 | ||||||
| chr5:128290432
|
T | C | 1 | a0003c0044t0004g0053 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.6445+300A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 50/64 | chr5 | 128290432 | ||||||
| chr5:128290504
|
G | C | 1 | a0001c0003t0001g0201 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.6445+228C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 50/64 | chr5 | 128290504 | ||||||
| chr5:128290515
|
A | C | 1 | a0001c0001t0002g0075 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.6445+217T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 50/64 | chr5 | 128290515 | ||||||
| chr5:128290547
|
G | C | 5 | a0002c0015t0008g0024a0002c0015t0010g0025a0002c0034t0004g0038others(2): Show | 5 | HG02818.hp2 HG03209.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.6445+185C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 50/64 | chr5 | 128290547 | ||||||
| chr5:128290963
|
G | A | 1 | a0004c0005t0001g0197 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.6293-79C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 49/64 | chr5 | 128290963 | ||||||
| chr5:128291156
|
T | G | 5 | a0002c0015t0008g0024a0002c0015t0010g0025a0002c0034t0004g0038others(2): Show | 5 | HG02818.hp2 HG03209.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.6293-272A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 49/64 | chr5 | 128291156 | ||||||
| chr5:128291192
|
G | A | 23 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0144others(20): Show | 23 | HG00140.hp2 HG00323.hp1 HG00558.hp1 others(20): Show |
intron_variant | MODIFIER | c.6293-308C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 49/64 | chr5 | 128291192 | ||||||
| chr5:128291226
|
T | A | 12 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(9): Show | 12 | HG00639.hp1 HG01081.hp2 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.6292+303A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 49/64 | chr5 | 128291226 | ||||||
| chr5:128291427
|
A | T | 12 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(9): Show | 12 | HG00639.hp1 HG01081.hp2 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.6292+102T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 49/64 | chr5 | 128291427 | ||||||
| chr5:128291517
|
G | T | 12 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(9): Show | 12 | HG00639.hp1 HG01081.hp2 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.6292+12C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 49/64 | chr5 | 128291517 | ||||||
| chr5:128291867
|
C | T | 20 | a0001c0021t0003g0010a0004c0005t0001g0191a0004c0005t0001g0192others(17): Show | 20 | HG00099.hp2 HG01361.hp1 HG02109.hp1 others(17): Show |
intron_variant | MODIFIER | c.6167-213G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128291867 | ||||||
| chr5:128292039
|
C | G | 1 | a0001c0001t0003g0002 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.6167-385G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128292039 | ||||||
| chr5:128292243
|
T | C | 1 | a0002c0002t0001g0223 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.6167-589A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128292243 | ||||||
| chr5:128292349
|
G | A | 6 | a0001c0001t0001g0170a0001c0001t0001g0229a0001c0001t0002g0072others(3): Show | 6 | HG00639.hp2 HG01516.hp1 HG01952.hp2 others(3): Show |
intron_variant | MODIFIER | c.6167-695C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128292349 | ||||||
| chr5:128292351
|
C | G | 1 | a0003c0004t0001g0155 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.6167-697G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128292351 | ||||||
| chr5:128292352
|
GT | G | 135 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0144others(132): Show | 135 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(132): Show |
intron_variant | MODIFIER | c.6167-699delA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128292352 | ||||||
| chr5:128292453
|
A | G | 1 | a0001c0031t0026g0116 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.6167-799T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128292453 | ||||||
| chr5:128292477
|
C | T | 1 | a0003c0004t0002g0088 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.6167-823G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128292477 | ||||||
| chr5:128292494
|
G | A | 3 | a0002c0032t0009g0039a0002c0040t0002g0041a0002c0041t0011g0029 | 3 | HG02109.hp2 HG02615.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.6167-840C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128292494 | ||||||
| chr5:128292602
|
C | A | 2 | a0003c0006t0004g0044a0003c0006t0004g0045 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.6167-948G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128292602 | ||||||
| chr5:128292611
|
C | A | 1 | a0002c0002t0034g0167 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.6167-957G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128292611 | ||||||
| chr5:128292942
|
G | C | 12 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(9): Show | 12 | HG00639.hp1 HG01081.hp2 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.6167-1288C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128292942 | ||||||
| chr5:128293128
|
C | A | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6167-1474G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128293128 | ||||||
| chr5:128293207
|
T | C | 1 | a0003c0004t0003g0012 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.6167-1553A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128293207 | ||||||
| chr5:128293228
|
A | G | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6167-1574T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128293228 | ||||||
| chr5:128293487
|
G | A | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6167-1833C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128293487 | ||||||
| chr5:128293612
|
C | A | 1 | a0001c0003t0001g0181 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.6167-1958G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128293612 | ||||||
| chr5:128293833
|
T | A | 1 | a0002c0034t0004g0038 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.6167-2179A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128293833 | ||||||
| chr5:128293846
|
A | AATT | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6167-2195_6167-219 others(7): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128293846 | ||||||
| chr5:128293926
|
T | C | 176 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(173): Show | 176 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(173): Show |
intron_variant | MODIFIER | c.6167-2272A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128293926 | ||||||
| chr5:128293985
|
T | C | 3 | a0002c0015t0008g0024a0002c0015t0010g0025a0002c0034t0004g0038 | 3 | HG02818.hp2 HG03471.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.6167-2331A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128293985 | ||||||
| chr5:128293989
|
C | T | 1 | a0003c0004t0036g0233 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.6167-2335G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128293989 | ||||||
| chr5:128294040
|
A | T | 2 | a0001c0003t0001g0177a0001c0003t0001g0180 | 2 | HG02056.hp2 HG02523.hp1 |
intron_variant | MODIFIER | c.6167-2386T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128294040 | ||||||
| chr5:128294168
|
C | T | 14 | a0001c0001t0005g0087a0001c0008t0006g0023a0001c0008t0025g0115others(11): Show | 14 | HG02559.hp2 HG02572.hp1 HG02630.hp1 others(11): Show |
intron_variant | MODIFIER | c.6167-2514G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128294168 | ||||||
| chr5:128294286
|
C | A | 6 | a0001c0033t0005g0037a0002c0015t0008g0024a0002c0015t0010g0025others(3): Show | 6 | HG02818.hp2 HG03209.hp2 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.6167-2632G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128294286 | ||||||
| chr5:128294348
|
T | A | 109 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(106): Show | 109 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(106): Show |
intron_variant | MODIFIER | c.6167-2694A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128294348 | ||||||
| chr5:128294457
|
G | A | 3 | a0001c0033t0005g0037a0002c0055t0008g0093a0027c0027t0008g0020 | 3 | HG03209.hp2 NA18522.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.6167-2803C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128294457 | ||||||
| chr5:128294550
|
T | C | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6167-2896A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128294550 | ||||||
| chr5:128294594
|
G | A | 1 | a0005c0019t0003g0006 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.6167-2940C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128294594 | ||||||
| chr5:128294613
|
T | C | 1 | a0001c0001t0002g0082 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.6167-2959A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128294613 | ||||||
| chr5:128294619
|
G | A | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6167-2965C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128294619 | ||||||
| chr5:128294702
|
A | C | 149 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(146): Show | 149 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(146): Show |
intron_variant | MODIFIER | c.6167-3048T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128294702 | ||||||
| chr5:128294755
|
G | A | 1 | a0001c0001t0003g0002 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.6167-3101C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128294755 | ||||||
| chr5:128294900
|
C | A | 234 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(231): Show | 234 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(231): Show |
intron_variant | MODIFIER | c.6167-3246G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128294900 | ||||||
| chr5:128294935
|
C | T | 14 | a0001c0001t0005g0087a0001c0008t0006g0023a0001c0008t0025g0115others(11): Show | 14 | HG02559.hp2 HG02572.hp1 HG02630.hp1 others(11): Show |
intron_variant | MODIFIER | c.6167-3281G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128294935 | ||||||
| chr5:128294954
|
T | C | 1 | a0010c0020t0001g0151 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.6167-3300A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128294954 | ||||||
| chr5:128295197
|
C | A | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6167-3543G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128295197 | ||||||
| chr5:128295197
|
C | T | 1 | a0001c0031t0026g0116 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.6167-3543G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128295197 | ||||||
| chr5:128295219
|
T | C | 1 | a0002c0029t0027g0118 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.6167-3565A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128295219 | ||||||
| chr5:128295317
|
G | A | 3 | a0001c0003t0006g0060a0003c0044t0004g0053a0013c0047t0002g0059 | 3 | HG02055.hp2 NA20129.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.6167-3663C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128295317 | ||||||
| chr5:128295486
|
C | T | 48 | a0001c0003t0006g0060a0001c0021t0001g0206a0001c0021t0003g0010others(45): Show | 48 | HG00099.hp2 HG00323.hp2 HG00639.hp1 others(45): Show |
intron_variant | MODIFIER | c.6167-3832G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128295486 | ||||||
| chr5:128295489
|
G | C | 14 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(11): Show | 14 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.6167-3835C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128295489 | ||||||
| chr5:128295553
|
T | A | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.6167-3899A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128295553 | ||||||
| chr5:128295604
|
A | C | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.6167-3950T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128295604 | ||||||
| chr5:128295691
|
C | T | 1 | a0002c0002t0005g0102 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.6167-4037G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128295691 | ||||||
| chr5:128295819
|
A | G | 1 | a0001c0011t0010g0104 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.6167-4165T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128295819 | ||||||
| chr5:128295953
|
G | A | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6167-4299C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128295953 | ||||||
| chr5:128295992
|
C | T | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6167-4338G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128295992 | ||||||
| chr5:128296048
|
C | G | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6167-4394G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128296048 | ||||||
| chr5:128296257
|
T | A | 1 | a0001c0001t0001g0153 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.6166+4560A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128296257 | ||||||
| chr5:128296267
|
A | G | 3 | a0002c0002t0001g0130a0007c0022t0001g0131a0007c0022t0001g0216 | 3 | HG03017.hp1 HG03491.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.6166+4550T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128296267 | ||||||
| chr5:128296361
|
T | A | 14 | a0001c0001t0005g0087a0001c0008t0006g0023a0001c0008t0025g0115others(11): Show | 14 | HG02559.hp2 HG02572.hp1 HG02630.hp1 others(11): Show |
intron_variant | MODIFIER | c.6166+4456A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128296361 | ||||||
| chr5:128296544
|
C | T | 2 | a0001c0001t0002g0073a0001c0052t0002g0081 | 2 | NA18975.hp2 NA18977.hp1 |
intron_variant | MODIFIER | c.6166+4273G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128296544 | ||||||
| chr5:128296581
|
A | G | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6166+4236T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128296581 | ||||||
| chr5:128296603
|
A | T | 6 | a0001c0033t0005g0037a0002c0015t0008g0024a0002c0015t0010g0025others(3): Show | 6 | HG02818.hp2 HG03209.hp2 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.6166+4214T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128296603 | ||||||
| chr5:128296604
|
G | T | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6166+4213C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128296604 | ||||||
| chr5:128296609
|
T | C | 1 | a0021c0067t0004g0098 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.6166+4208A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128296609 | ||||||
| chr5:128296612
|
A | G | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6166+4205T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128296612 | ||||||
| chr5:128296673
|
C | T | 14 | a0001c0001t0005g0087a0001c0008t0006g0023a0001c0008t0025g0115others(11): Show | 14 | HG02559.hp2 HG02572.hp1 HG02630.hp1 others(11): Show |
intron_variant | MODIFIER | c.6166+4144G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128296673 | ||||||
| chr5:128296753
|
G | A | 14 | a0001c0001t0005g0087a0001c0008t0006g0023a0001c0008t0025g0115others(11): Show | 14 | HG02559.hp2 HG02572.hp1 HG02630.hp1 others(11): Show |
intron_variant | MODIFIER | c.6166+4064C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128296753 | ||||||
| chr5:128296779
|
A | C | 171 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(168): Show | 171 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(168): Show |
intron_variant | MODIFIER | c.6166+4038T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128296779 | ||||||
| chr5:128296807
|
T | G | 4 | a0001c0001t0001g0162a0001c0001t0001g0175a0001c0001t0002g0076others(1): Show | 4 | NA18967.hp1 NA18972.hp2 NA19011.hp1 others(1): Show |
intron_variant | MODIFIER | c.6166+4010A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128296807 | ||||||
| chr5:128296858
|
G | A | 1 | a0001c0003t0001g0181 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.6166+3959C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128296858 | ||||||
| chr5:128296987
|
T | G | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6166+3830A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128296987 | ||||||
| chr5:128296988
|
T | C | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6166+3829A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128296988 | ||||||
| chr5:128297010
|
T | C | 1 | a0001c0008t0025g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.6166+3807A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297010 | ||||||
| chr5:128297012
|
T | C | 1 | a0001c0009t0002g0049 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.6166+3805A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297012 | ||||||
| chr5:128297013
|
G | A | 1 | a0001c0009t0002g0049 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.6166+3804C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297013 | ||||||
| chr5:128297047
|
T | A | 1 | a0001c0009t0002g0049 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.6166+3770A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297047 | ||||||
| chr5:128297049
|
G | A | 1 | a0001c0009t0002g0049 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.6166+3768C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297049 | ||||||
| chr5:128297050
|
C | G | 1 | a0001c0009t0002g0049 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.6166+3767G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297050 | ||||||
| chr5:128297061
|
T | G | 1 | a0001c0009t0002g0049 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.6166+3756A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297061 | ||||||
| chr5:128297088
|
G | A | 1 | a0001c0009t0002g0049 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.6166+3729C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297088 | ||||||
| chr5:128297124
|
C | G | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6166+3693G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297124 | ||||||
| chr5:128297143
|
C | G | 1 | a0001c0009t0002g0049 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.6166+3674G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297143 | ||||||
| chr5:128297158
|
T | A | 6 | a0001c0033t0005g0037a0002c0015t0008g0024a0002c0015t0010g0025others(3): Show | 6 | HG02818.hp2 HG03209.hp2 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.6166+3659A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297158 | ||||||
| chr5:128297203
|
T | C | 1 | a0001c0009t0002g0049 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.6166+3614A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297203 | ||||||
| chr5:128297354
|
C | T | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6166+3463G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297354 | ||||||
| chr5:128297384
|
G | T | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.6166+3433C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297384 | ||||||
| chr5:128297431
|
G | T | 1 | a0002c0002t0001g0163 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.6166+3386C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297431 | ||||||
| chr5:128297446
|
C | G | 1 | a0003c0004t0002g0090 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.6166+3371G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297446 | ||||||
| chr5:128297503
|
T | G | 1 | a0003c0044t0004g0053 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.6166+3314A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297503 | ||||||
| chr5:128297548
|
C | G | 1 | a0001c0050t0001g0208 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.6166+3269G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297548 | ||||||
| chr5:128297687
|
C | T | 1 | a0003c0007t0005g0052 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.6166+3130G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297687 | ||||||
| chr5:128297694
|
T | C | 21 | a0001c0021t0001g0206a0001c0054t0001g0194a0004c0005t0001g0191others(18): Show | 21 | HG00099.hp2 HG00323.hp2 HG01361.hp1 others(18): Show |
intron_variant | MODIFIER | c.6166+3123A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297694 | ||||||
| chr5:128297776
|
T | A | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6166+3041A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297776 | ||||||
| chr5:128297866
|
T | G | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6166+2951A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297866 | ||||||
| chr5:128297966
|
G | A | 12 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(9): Show | 12 | HG00639.hp1 HG01081.hp2 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.6166+2851C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297966 | ||||||
| chr5:128297978
|
T | C | 3 | a0001c0003t0006g0060a0003c0044t0004g0053a0013c0047t0002g0059 | 3 | HG02055.hp2 NA20129.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.6166+2839A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128297978 | ||||||
| chr5:128298081
|
C | A | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6166+2736G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128298081 | ||||||
| chr5:128298127
|
T | C | 14 | a0001c0001t0005g0087a0001c0008t0006g0023a0001c0008t0025g0115others(11): Show | 14 | HG02559.hp2 HG02572.hp1 HG02630.hp1 others(11): Show |
intron_variant | MODIFIER | c.6166+2690A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128298127 | ||||||
| chr5:128298164
|
C | T | 1 | a0002c0015t0008g0024 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.6166+2653G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128298164 | ||||||
| chr5:128298165
|
G | C | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6166+2652C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128298165 | ||||||
| chr5:128298177
|
T | C | 1 | a0003c0004t0002g0083 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.6166+2640A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128298177 | ||||||
| chr5:128298201
|
G | A | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6166+2616C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128298201 | ||||||
| chr5:128298349
|
C | T | 3 | a0001c0003t0006g0060a0003c0044t0004g0053a0013c0047t0002g0059 | 3 | HG02055.hp2 NA20129.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.6166+2468G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128298349 | ||||||
| chr5:128298624
|
C | T | 16 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(13): Show | 16 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(13): Show |
intron_variant | MODIFIER | c.6166+2193G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128298624 | ||||||
| chr5:128298637
|
G | A | 3 | a0001c0021t0003g0010a0008c0042t0012g0054a0008c0063t0012g0096 | 3 | HG02922.hp1 HG03486.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.6166+2180C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128298637 | ||||||
| chr5:128298660
|
G | T | 1 | a0003c0004t0001g0155 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.6166+2157C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128298660 | ||||||
| chr5:128298710
|
G | C | 123 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(120): Show | 123 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.6166+2107C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128298710 | ||||||
| chr5:128298715
|
G | A | 2 | a0001c0001t0002g0073a0001c0052t0002g0081 | 2 | NA18975.hp2 NA18977.hp1 |
intron_variant | MODIFIER | c.6166+2102C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128298715 | ||||||
| chr5:128298873
|
C | T | 2 | a0002c0002t0005g0102a0025c0069t0005g0109 | 2 | HG02630.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.6166+1944G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128298873 | ||||||
| chr5:128298930
|
T | C | 14 | a0001c0001t0005g0087a0001c0008t0006g0023a0001c0008t0025g0115others(11): Show | 14 | HG02559.hp2 HG02572.hp1 HG02630.hp1 others(11): Show |
intron_variant | MODIFIER | c.6166+1887A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128298930 | ||||||
| chr5:128299188
|
G | A | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6166+1629C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299188 | ||||||
| chr5:128299207
|
C | T | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6166+1610G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299207 | ||||||
| chr5:128299222
|
A | G | 24 | a0001c0021t0001g0206a0001c0021t0003g0010a0001c0054t0001g0194others(21): Show | 24 | HG00099.hp2 HG00323.hp2 HG01361.hp1 others(21): Show |
intron_variant | MODIFIER | c.6166+1595T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299222 | ||||||
| chr5:128299360
|
A | C | 1 | a0002c0002t0001g0215 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.6166+1457T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299360 | ||||||
| chr5:128299360
|
A | T | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6166+1457T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299360 | ||||||
| chr5:128299361
|
A | C | 16 | a0002c0002t0001g0215a0002c0002t0005g0086a0002c0002t0005g0102others(13): Show | 16 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(13): Show |
intron_variant | MODIFIER | c.6166+1456T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299361 | ||||||
| chr5:128299367
|
C | A | 1 | a0002c0002t0001g0215 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.6166+1450G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299367 | ||||||
| chr5:128299404
|
G | C | 10 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(7): Show | 10 | HG00639.hp1 HG01081.hp2 HG02257.hp2 others(7): Show |
intron_variant | MODIFIER | c.6166+1413C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299404 | ||||||
| chr5:128299434
|
C | CGCTGCCG others(4): Show |
48 | a0001c0003t0006g0060a0001c0021t0001g0206a0001c0021t0003g0010others(45): Show | 48 | HG00099.hp2 HG00323.hp2 HG00639.hp1 others(45): Show |
intron_variant | MODIFIER | c.6166+1382_6166+138 others(15): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299434 | ||||||
| chr5:128299434
|
C | CGCTGCTG others(4): Show |
109 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(106): Show | 109 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(106): Show |
intron_variant | MODIFIER | c.6166+1382_6166+138 others(15): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299434 | ||||||
| chr5:128299435
|
A | G | 171 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(168): Show | 171 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(168): Show |
intron_variant | MODIFIER | c.6166+1382T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299435 | ||||||
| chr5:128299463
|
C | G | 12 | a0001c0003t0001g0136a0001c0003t0001g0174a0001c0003t0001g0176others(9): Show | 12 | HG00735.hp1 HG01106.hp2 HG01192.hp1 others(9): Show |
intron_variant | MODIFIER | c.6166+1354G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299463 | ||||||
| chr5:128299497
|
G | A | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6166+1320C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299497 | ||||||
| chr5:128299546
|
C | T | 2 | a0001c0003t0006g0060a0013c0047t0002g0059 | 2 | NA20129.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.6166+1271G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299546 | ||||||
| chr5:128299564
|
G | A | 14 | a0001c0001t0005g0087a0001c0008t0006g0023a0001c0008t0025g0115others(11): Show | 14 | HG02559.hp2 HG02572.hp1 HG02630.hp1 others(11): Show |
intron_variant | MODIFIER | c.6166+1253C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299564 | ||||||
| chr5:128299583
|
C | T | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6166+1234G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299583 | ||||||
| chr5:128299665
|
C | T | 1 | a0002c0002t0002g0074 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.6166+1152G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299665 | ||||||
| chr5:128299667
|
C | A | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6166+1150G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299667 | ||||||
| chr5:128299667
|
C | T | 2 | a0001c0008t0025g0115a0001c0009t0006g0028 | 2 | HG03041.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.6166+1150G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299667 | ||||||
| chr5:128299682
|
C | T | 33 | a0001c0021t0001g0206a0001c0021t0003g0010a0001c0033t0005g0037others(30): Show | 33 | HG00099.hp2 HG00323.hp2 HG01361.hp1 others(30): Show |
intron_variant | MODIFIER | c.6166+1135G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299682 | ||||||
| chr5:128299683
|
G | A | 2 | a0001c0003t0006g0060a0013c0047t0002g0059 | 2 | NA20129.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.6166+1134C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299683 | ||||||
| chr5:128299712
|
G | A | 3 | a0004c0005t0001g0197a0004c0005t0001g0198a0004c0005t0001g0199 | 3 | NA18956.hp2 NA18977.hp2 NA19077.hp1 |
intron_variant | MODIFIER | c.6166+1105C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299712 | ||||||
| chr5:128299786
|
C | T | 1 | a0001c0009t0002g0040 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.6166+1031G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299786 | ||||||
| chr5:128299822
|
C | G | 109 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(106): Show | 109 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(106): Show |
intron_variant | MODIFIER | c.6166+995G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299822 | ||||||
| chr5:128299849
|
C | A | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6166+968G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299849 | ||||||
| chr5:128299862
|
A | G | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.6166+955T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299862 | ||||||
| chr5:128299925
|
C | CTAGA | 157 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(154): Show | 157 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(154): Show |
intron_variant | MODIFIER | c.6166+891_6166+892i others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128299925 | ||||||
| chr5:128300175
|
C | A | 109 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(106): Show | 109 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(106): Show |
intron_variant | MODIFIER | c.6166+642G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128300175 | ||||||
| chr5:128300320
|
C | T | 2 | a0003c0004t0002g0063a0003c0004t0002g0064 | 2 | HG03579.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.6166+497G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128300320 | ||||||
| chr5:128300420
|
C | G | 2 | a0002c0002t0001g0210a0002c0002t0001g0211 | 2 | NA18956.hp1 NA18964.hp1 |
intron_variant | MODIFIER | c.6166+397G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128300420 | ||||||
| chr5:128300492
|
T | TA | 2 | a0002c0002t0001g0165a0009c0024t0007g0123 | 2 | NA18990.hp1 NA18990.hp2 |
intron_variant | MODIFIER | c.6166+324_6166+325i others(3): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128300492 | ||||||
| chr5:128300635
|
C | T | 1 | a0019c0046t0010g0027 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.6166+182G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128300635 | ||||||
| chr5:128300699
|
G | T | 6 | a0001c0033t0005g0037a0002c0015t0008g0024a0002c0015t0010g0025others(3): Show | 6 | HG02818.hp2 HG03209.hp2 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.6166+118C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128300699 | ||||||
| chr5:128300709
|
T | G | 1 | a0003c0044t0004g0053 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.6166+108A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128300709 | ||||||
| chr5:128300793
|
C | T | 24 | a0001c0021t0001g0206a0001c0021t0003g0010a0001c0054t0001g0194others(21): Show | 24 | HG00099.hp2 HG00323.hp2 HG01361.hp1 others(21): Show |
intron_variant | MODIFIER | c.6166+24G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 48/64 | chr5 | 128300793 | ||||||
| chr5:128301033
|
G | A | 2 | a0001c0008t0025g0115a0001c0009t0006g0028 | 2 | HG03041.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.6047-97C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 47/64 | chr5 | 128301033 | ||||||
| chr5:128301081
|
C | G | 1 | a0002c0002t0001g0163 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.6047-145G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 47/64 | chr5 | 128301081 | ||||||
| chr5:128301576
|
C | G | 1 | a0001c0028t0002g0022 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.5918-66G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 46/64 | chr5 | 128301576 | ||||||
| chr5:128301670
|
A | G | 30 | a0001c0021t0001g0206a0001c0021t0003g0010a0001c0033t0005g0037others(27): Show | 30 | HG00099.hp2 HG00323.hp2 HG01361.hp1 others(27): Show |
intron_variant | MODIFIER | c.5918-160T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 46/64 | chr5 | 128301670 | ||||||
| chr5:128301712
|
C | T | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.5918-202G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 46/64 | chr5 | 128301712 | ||||||
| chr5:128301837
|
G | A | 24 | a0001c0021t0001g0206a0001c0021t0003g0010a0001c0054t0001g0194others(21): Show | 24 | HG00099.hp2 HG00323.hp2 HG01361.hp1 others(21): Show |
intron_variant | MODIFIER | c.5918-327C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 46/64 | chr5 | 128301837 | ||||||
| chr5:128301922
|
T | G | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.5918-412A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 46/64 | chr5 | 128301922 | ||||||
| chr5:128301942
|
T | A | 171 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(168): Show | 171 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(168): Show |
intron_variant | MODIFIER | c.5918-432A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 46/64 | chr5 | 128301942 | ||||||
| chr5:128302085
|
GC | G | 23 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0144others(20): Show | 23 | HG00140.hp2 HG00323.hp1 HG00558.hp1 others(20): Show |
intron_variant | MODIFIER | c.5918-576delG | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 46/64 | chr5 | 128302085 | ||||||
| chr5:128302262
|
G | A | 1 | a0003c0004t0001g0129 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.5917+711C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 46/64 | chr5 | 128302262 | ||||||
| chr5:128302363
|
T | C | 1 | a0001c0001t0001g0148 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.5917+610A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 46/64 | chr5 | 128302363 | ||||||
| chr5:128302514
|
G | A | 4 | a0003c0006t0004g0044a0003c0006t0004g0045a0003c0006t0004g0047others(1): Show | 4 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(1): Show |
intron_variant | MODIFIER | c.5917+459C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 46/64 | chr5 | 128302514 | ||||||
| chr5:128302515
|
C | A | 4 | a0003c0006t0004g0044a0003c0006t0004g0045a0003c0006t0004g0047others(1): Show | 4 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(1): Show |
intron_variant | MODIFIER | c.5917+458G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 46/64 | chr5 | 128302515 | ||||||
| chr5:128302735
|
T | G | 6 | a0001c0033t0005g0037a0002c0015t0008g0024a0002c0015t0010g0025others(3): Show | 6 | HG02818.hp2 HG03209.hp2 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.5917+238A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 46/64 | chr5 | 128302735 | ||||||
| chr5:128302738
|
C | T | 1 | a0003c0007t0006g0057 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.5917+235G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 46/64 | chr5 | 128302738 | ||||||
| chr5:128302772
|
A | C | 102 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(99): Show | 102 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(99): Show |
intron_variant | MODIFIER | c.5917+201T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 46/64 | chr5 | 128302772 | ||||||
| chr5:128302772
|
A | T | 7 | a0002c0002t0001g0168a0002c0002t0001g0183a0002c0002t0001g0212others(4): Show | 7 | HG00609.hp1 NA18975.hp1 NA18984.hp1 others(4): Show |
intron_variant | MODIFIER | c.5917+201T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 46/64 | chr5 | 128302772 | ||||||
| chr5:128302784
|
C | G | 1 | a0001c0003t0032g0141 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.5917+189G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 46/64 | chr5 | 128302784 | ||||||
| chr5:128302854
|
T | C | 3 | a0002c0015t0008g0024a0002c0015t0010g0025a0002c0034t0004g0038 | 3 | HG02818.hp2 HG03471.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.5917+119A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 46/64 | chr5 | 128302854 | ||||||
| chr5:128302861
|
T | C | 7 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0164others(4): Show | 7 | HG00609.hp2 HG01346.hp1 HG03834.hp2 others(4): Show |
intron_variant | MODIFIER | c.5917+112A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 46/64 | chr5 | 128302861 | ||||||
| chr5:128302883
|
A | AT | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.5917+89dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 46/64 | chr5 | 128302883 | ||||||
| chr5:128302920
|
C | T | 3 | a0003c0004t0006g0095a0003c0007t0006g0055a0003c0007t0006g0056 | 3 | HG01069.hp1 HG01071.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.5917+53G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 46/64 | chr5 | 128302920 | ||||||
| chr5:128303159
|
A | T | 1 | a0001c0003t0001g0182 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.5801-70T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 45/64 | chr5 | 128303159 | ||||||
| chr5:128303160
|
T | C | 5 | a0001c0001t0005g0087a0001c0008t0006g0023a0001c0008t0025g0115others(2): Show | 5 | HG02717.hp2 HG03041.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.5801-71A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 45/64 | chr5 | 128303160 | ||||||
| chr5:128303508
|
CAAACTTT others(9): Show |
C | 15 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.5801-435_5801-420d others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 45/64 | chr5 | 128303508 | ||||||
| chr5:128303651
|
T | C | 1 | a0002c0023t0007g0121 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.5801-562A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 45/64 | chr5 | 128303651 | ||||||
| chr5:128303705
|
T | C | 6 | a0001c0033t0005g0037a0002c0015t0008g0024a0002c0015t0010g0025others(3): Show | 6 | HG02818.hp2 HG03209.hp2 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.5801-616A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 45/64 | chr5 | 128303705 | ||||||
| chr5:128303707
|
G | T | 1 | a0002c0002t0001g0221 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.5801-618C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 45/64 | chr5 | 128303707 | ||||||
| chr5:128304044
|
A | G | 14 | a0001c0001t0005g0087a0001c0008t0006g0023a0001c0008t0025g0115others(11): Show | 14 | HG02559.hp2 HG02572.hp1 HG02630.hp1 others(11): Show |
intron_variant | MODIFIER | c.5800+913T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 45/64 | chr5 | 128304044 | ||||||
| chr5:128304060
|
A | G | 1 | a0001c0028t0002g0022 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.5800+897T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 45/64 | chr5 | 128304060 | ||||||
| chr5:128304112
|
C | A | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.5800+845G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 45/64 | chr5 | 128304112 | ||||||
| chr5:128304220
|
T | C | 1 | a0001c0001t0002g0082 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.5800+737A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 45/64 | chr5 | 128304220 | ||||||
| chr5:128304351
|
A | G | 1 | a0003c0004t0002g0083 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.5800+606T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 45/64 | chr5 | 128304351 | ||||||
| chr5:128304371
|
C | T | 30 | a0001c0021t0001g0206a0001c0021t0003g0010a0001c0033t0005g0037others(27): Show | 30 | HG00099.hp2 HG00323.hp2 HG01361.hp1 others(27): Show |
intron_variant | MODIFIER | c.5800+586G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 45/64 | chr5 | 128304371 | ||||||
| chr5:128304384
|
C | T | 176 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(173): Show | 176 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(173): Show |
intron_variant | MODIFIER | c.5800+573G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 45/64 | chr5 | 128304384 | ||||||
| chr5:128304446
|
C | T | 1 | a0001c0001t0001g0126 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.5800+511G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 45/64 | chr5 | 128304446 | ||||||
| chr5:128304616
|
T | C | 1 | a0001c0001t0002g0071 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.5800+341A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 45/64 | chr5 | 128304616 | ||||||
| chr5:128304862
|
G | C | 2 | a0001c0011t0010g0104a0003c0016t0037g0234 | 2 | HG02886.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.5800+95C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 45/64 | chr5 | 128304862 | ||||||
| chr5:128304903
|
C | G | 14 | a0001c0001t0005g0087a0001c0008t0006g0023a0001c0008t0025g0115others(11): Show | 14 | HG02559.hp2 HG02572.hp1 HG02630.hp1 others(11): Show |
intron_variant | MODIFIER | c.5800+54G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 45/64 | chr5 | 128304903 | ||||||
| chr5:128304935
|
T | C | 1 | a0001c0001t0002g0070 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.5800+22A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 45/64 | chr5 | 128304935 | ||||||
| chr5:128304947
|
C | T | 1 | a0003c0004t0033g0128 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.5800+10G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 45/64 | chr5 | 128304947 | ||||||
| chr5:128305090
|
AG | A | 15 | a0001c0001t0002g0077a0002c0002t0005g0086a0002c0002t0005g0102others(12): Show | 15 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.5675-9delC | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 44/64 | chr5 | 128305090 | ||||||
| chr5:128305091
|
G | A | 158 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(155): Show | 158 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(155): Show |
intron_variant | MODIFIER | c.5675-9C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 44/64 | chr5 | 128305091 | ||||||
| chr5:128305099
|
T | A | 1 | a0001c0001t0002g0077 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.5675-17A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 44/64 | chr5 | 128305099 | ||||||
| chr5:128305169
|
A | G | 109 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(106): Show | 109 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(106): Show |
intron_variant | MODIFIER | c.5675-87T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 44/64 | chr5 | 128305169 | ||||||
| chr5:128305234
|
C | T | 14 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(11): Show | 14 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.5675-152G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 44/64 | chr5 | 128305234 | ||||||
| chr5:128305253
|
T | C | 14 | a0002c0002t0005g0086a0002c0002t0005g0102a0002c0023t0007g0121others(11): Show | 14 | HG00639.hp1 HG01081.hp2 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.5675-171A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 44/64 | chr5 | 128305253 | ||||||
| chr5:128305376
|
T | C | 1 | a0015c0049t0002g0066 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.5674+135A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 44/64 | chr5 | 128305376 | ||||||
| chr5:128306021
|
C | T | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.5423-73G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 42/64 | chr5 | 128306021 | ||||||
| chr5:128306192
|
G | C | 2 | a0002c0002t0001g0220a0002c0002t0001g0221 | 2 | HG02155.hp1 HG02523.hp2 |
intron_variant | MODIFIER | c.5423-244C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 42/64 | chr5 | 128306192 | ||||||
| chr5:128306224
|
C | A | 22 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0003t0001g0140others(19): Show | 22 | HG00735.hp1 HG01109.hp2 HG01952.hp1 others(19): Show |
intron_variant | MODIFIER | c.5423-276G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 42/64 | chr5 | 128306224 | ||||||
| chr5:128306577
|
G | A | 1 | a0001c0001t0001g0227 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.5422+558C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 42/64 | chr5 | 128306577 | ||||||
| chr5:128306578
|
C | T | 1 | a0003c0016t0037g0234 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.5422+557G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 42/64 | chr5 | 128306578 | ||||||
| chr5:128306627
|
A | G | 34 | a0001c0001t0001g0162a0001c0001t0001g0170a0001c0001t0001g0172others(31): Show | 34 | HG00099.hp1 HG00639.hp2 HG01081.hp1 others(31): Show |
intron_variant | MODIFIER | c.5422+508T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 42/64 | chr5 | 128306627 | ||||||
| chr5:128306981
|
C | T | 8 | a0001c0036t0004g0032a0002c0002t0005g0086a0002c0023t0007g0121others(5): Show | 8 | HG00639.hp1 HG01081.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.5422+154G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 42/64 | chr5 | 128306981 | ||||||
| chr5:128307672
|
C | CT | 8 | a0001c0036t0004g0032a0002c0002t0005g0086a0002c0023t0007g0121others(5): Show | 8 | HG00639.hp1 HG01081.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.5354-470dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 41/64 | chr5 | 128307672 | ||||||
| chr5:128307758
|
A | G | 192 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(189): Show | 192 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(189): Show |
intron_variant | MODIFIER | c.5354-555T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 41/64 | chr5 | 128307758 | ||||||
| chr5:128307790
|
G | T | 1 | a0001c0036t0004g0032 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.5354-587C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 41/64 | chr5 | 128307790 | ||||||
| chr5:128308026
|
T | G | 192 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(189): Show | 192 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(189): Show |
intron_variant | MODIFIER | c.5354-823A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 41/64 | chr5 | 128308026 | ||||||
| chr5:128308335
|
A | G | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.5353+912T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 41/64 | chr5 | 128308335 | ||||||
| chr5:128308514
|
C | T | 19 | a0001c0021t0001g0206a0001c0054t0001g0194a0004c0005t0001g0191others(16): Show | 19 | HG00099.hp2 HG00323.hp2 HG01361.hp1 others(16): Show |
intron_variant | MODIFIER | c.5353+733G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 41/64 | chr5 | 128308514 | ||||||
| chr5:128308551
|
T | G | 1 | a0001c0003t0005g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.5353+696A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 41/64 | chr5 | 128308551 | ||||||
| chr5:128308554
|
A | G | 1 | a0001c0058t0020g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.5353+693T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 41/64 | chr5 | 128308554 | ||||||
| chr5:128308596
|
C | A | 1 | a0001c0033t0005g0037 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.5353+651G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 41/64 | chr5 | 128308596 | ||||||
| chr5:128308799
|
G | A | 6 | a0001c0001t0005g0087a0001c0003t0005g0100a0001c0003t0006g0060others(3): Show | 6 | HG02717.hp2 HG03041.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.5353+448C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 41/64 | chr5 | 128308799 | ||||||
| chr5:128309429
|
A | G | 1 | a0004c0005t0001g0205 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.5201-30T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 40/64 | chr5 | 128309429 | ||||||
| chr5:128309441
|
G | A | 1 | a0003c0007t0005g0052 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.5201-42C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 40/64 | chr5 | 128309441 | ||||||
| chr5:128309595
|
T | A | 200 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(197): Show | 200 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(197): Show |
intron_variant | MODIFIER | c.5201-196A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 40/64 | chr5 | 128309595 | ||||||
| chr5:128309637
|
T | G | 14 | a0003c0006t0004g0042a0003c0006t0004g0044a0003c0006t0004g0045others(11): Show | 14 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.5201-238A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 40/64 | chr5 | 128309637 | ||||||
| chr5:128309697
|
T | C | 8 | a0001c0036t0004g0032a0002c0002t0005g0086a0002c0023t0007g0121others(5): Show | 8 | HG00639.hp1 HG01081.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.5200+286A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 40/64 | chr5 | 128309697 | ||||||
| chr5:128309835
|
T | C | 6 | a0003c0004t0002g0063a0003c0004t0002g0064a0003c0004t0002g0103others(3): Show | 6 | HG02895.hp2 HG02896.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.5200+148A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 40/64 | chr5 | 128309835 | ||||||
| chr5:128309951
|
T | G | 2 | a0002c0002t0001g0220a0002c0002t0001g0221 | 2 | HG02155.hp1 HG02523.hp2 |
intron_variant | MODIFIER | c.5200+32A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 40/64 | chr5 | 128309951 | ||||||
| chr5:128310365
|
C | T | 61 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0005g0087others(58): Show | 61 | HG00099.hp2 HG00323.hp2 HG00735.hp1 others(58): Show |
intron_variant | MODIFIER | c.5075-257G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310365 | ||||||
| chr5:128310365
|
CATATAT | C | 2 | a0005c0017t0003g0008a0006c0025t0018g0017 | 2 | HG02809.hp1 NA18984.hp2 |
intron_variant | MODIFIER | c.5075-263_5075-258d others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310365 | ||||||
| chr5:128310376
|
ATATATAT others(27): Show |
A | 3 | a0001c0003t0001g0181a0001c0033t0005g0037a0002c0055t0008g0093 | 3 | HG01109.hp2 NA18522.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.5075-302_5075-269d others(36): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310376 | ||||||
| chr5:128310378
|
ATATATAT others(27): Show |
A | 1 | a0004c0005t0001g0191 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.5075-304_5075-271d others(36): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310378 | ||||||
| chr5:128310383
|
TATATATA others(8): Show |
T | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.5075-290_5075-276d others(17): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310383 | ||||||
| chr5:128310384
|
ATATATAT others(14): Show |
A | 3 | a0002c0002t0001g0210a0002c0002t0001g0215a0002c0002t0002g0068 | 3 | HG03927.hp2 NA18964.hp1 NA18986.hp2 |
intron_variant | MODIFIER | c.5075-297_5075-277d others(23): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310384 | ||||||
| chr5:128310384
|
ATATATAT others(15): Show |
A | 1 | a0001c0009t0002g0040 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.5075-298_5075-277d others(24): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310384 | ||||||
| chr5:128310384
|
ATATATAT others(16): Show |
A | 1 | a0001c0001t0002g0082 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.5075-299_5075-277d others(25): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310384 | ||||||
| chr5:128310386
|
ATATATAT others(10): Show |
A | 1 | a0003c0044t0004g0053 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.5075-295_5075-279d others(19): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310386 | ||||||
| chr5:128310386
|
ATATATAT others(11): Show |
A | 1 | a0001c0028t0002g0022 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.5075-296_5075-279d others(20): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310386 | ||||||
| chr5:128310386
|
ATATATAT others(13): Show |
A | 1 | a0003c0016t0002g0043 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.5075-298_5075-279d others(22): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310386 | ||||||
| chr5:128310386
|
ATATATAT others(14): Show |
A | 21 | a0002c0002t0001g0132a0002c0002t0001g0135a0002c0002t0001g0163others(18): Show | 21 | HG00609.hp1 HG01074.hp2 HG01358.hp2 others(18): Show |
intron_variant | MODIFIER | c.5075-299_5075-279d others(23): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310386 | ||||||
| chr5:128310386
|
ATATATAT others(15): Show |
A | 1 | a0021c0067t0004g0098 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.5075-300_5075-279d others(24): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310386 | ||||||
| chr5:128310386
|
ATATATAT others(16): Show |
A | 1 | a0002c0002t0002g0074 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.5075-301_5075-279d others(25): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310386 | ||||||
| chr5:128310388
|
ATATATAT others(10): Show |
A | 1 | a0002c0015t0008g0024 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.5075-297_5075-281d others(19): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310388 | ||||||
| chr5:128310388
|
ATATATAT others(11): Show |
A | 2 | a0002c0002t0005g0102a0025c0069t0005g0109 | 2 | HG02630.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.5075-298_5075-281d others(20): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310388 | ||||||
| chr5:128310388
|
ATATATAT others(12): Show |
A | 18 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0144others(15): Show | 18 | HG00140.hp2 HG00558.hp1 HG00558.hp2 others(15): Show |
intron_variant | MODIFIER | c.5075-299_5075-281d others(21): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310388 | ||||||
| chr5:128310388
|
ATATATAT others(13): Show |
A | 10 | a0002c0002t0001g0161a0002c0002t0001g0220a0003c0006t0004g0042others(7): Show | 10 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(7): Show |
intron_variant | MODIFIER | c.5075-300_5075-281d others(22): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310388 | ||||||
| chr5:128310388
|
ATATATAT others(14): Show |
A | 7 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0008t0029g0117others(4): Show | 7 | HG01975.hp2 HG02523.hp2 HG02572.hp2 others(4): Show |
intron_variant | MODIFIER | c.5075-301_5075-281d others(23): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310388 | ||||||
| chr5:128310388
|
ATATATAT others(15): Show |
A | 2 | a0001c0001t0001g0164a0001c0001t0001g0226 | 2 | HG00609.hp2 HG01346.hp1 |
intron_variant | MODIFIER | c.5075-302_5075-281d others(24): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310388 | ||||||
| chr5:128310388
|
ATATATAT others(17): Show |
A | 1 | a0001c0003t0001g0173 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.5075-304_5075-281d others(26): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310388 | ||||||
| chr5:128310390
|
ATATATAT others(10): Show |
A | 4 | a0001c0001t0001g0154a0001c0058t0020g0019a0002c0015t0010g0025others(1): Show | 4 | HG01069.hp2 HG02615.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.5075-299_5075-283d others(19): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310390 | ||||||
| chr5:128310390
|
ATATATAT others(11): Show |
A | 2 | a0003c0006t0004g0046a0007c0022t0001g0131 | 2 | HG03491.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.5075-300_5075-283d others(20): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310390 | ||||||
| chr5:128310390
|
ATATATAT others(12): Show |
A | 7 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0008t0028g0113others(4): Show | 7 | HG00323.hp1 HG02559.hp1 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.5075-301_5075-283d others(21): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310390 | ||||||
| chr5:128310390
|
ATATATAT others(13): Show |
A | 3 | a0001c0011t0009g0065a0009c0024t0007g0122a0009c0024t0007g0123 | 3 | HG02559.hp2 NA18990.hp1 NA19003.hp2 |
intron_variant | MODIFIER | c.5075-302_5075-283d others(22): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310390 | ||||||
| chr5:128310390
|
ATATATAT others(14): Show |
A | 2 | a0002c0039t0005g0031a0003c0010t0002g0099 | 2 | HG02258.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.5075-303_5075-283d others(23): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310390 | ||||||
| chr5:128310392
|
ATATATAT others(6): Show |
A | 1 | a0001c0001t0001g0188 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.5075-297_5075-285d others(15): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310392 | ||||||
| chr5:128310392
|
ATATATAT others(8): Show |
A | 9 | a0001c0001t0001g0170a0001c0001t0002g0077a0001c0001t0013g0110others(6): Show | 9 | HG00639.hp2 HG01516.hp1 HG01952.hp2 others(6): Show |
intron_variant | MODIFIER | c.5075-299_5075-285d others(17): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310392 | ||||||
| chr5:128310392
|
ATATATAT others(9): Show |
A | 2 | a0001c0001t0001g0227a0001c0001t0002g0072 | 2 | HG02083.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.5075-300_5075-285d others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310392 | ||||||
| chr5:128310392
|
ATATATAT others(10): Show |
A | 1 | a0007c0022t0001g0216 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.5075-301_5075-285d others(19): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310392 | ||||||
| chr5:128310392
|
ATATATAT others(11): Show |
A | 3 | a0001c0003t0006g0060a0002c0002t0001g0130a0004c0005t0001g0193 | 3 | HG02155.hp2 NA20129.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.5075-302_5075-285d others(20): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310392 | ||||||
| chr5:128310392
|
ATATATAT others(12): Show |
A | 5 | a0001c0001t0005g0087a0001c0003t0005g0100a0001c0009t0006g0028others(2): Show | 5 | HG02572.hp1 HG03041.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.5075-303_5075-285d others(21): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310392 | ||||||
| chr5:128310392
|
ATATATAT others(13): Show |
A | 6 | a0001c0036t0004g0032a0002c0002t0005g0086a0002c0023t0007g0121others(3): Show | 6 | HG00639.hp1 HG01081.hp2 HG01884.hp2 others(3): Show |
intron_variant | MODIFIER | c.5075-304_5075-285d others(22): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310392 | ||||||
| chr5:128310394
|
ATATATAT others(3): Show |
A | 1 | a0022c0066t0021g0101 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.5075-296_5075-287d others(12): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310394 | ||||||
| chr5:128310394
|
ATATATAT others(4): Show |
A | 2 | a0001c0001t0002g0073a0001c0052t0002g0081 | 2 | NA18975.hp2 NA18977.hp1 |
intron_variant | MODIFIER | c.5075-297_5075-287d others(13): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310394 | ||||||
| chr5:128310394
|
ATATATAT others(6): Show |
A | 7 | a0001c0001t0002g0071a0001c0001t0002g0075a0001c0001t0002g0076others(4): Show | 7 | NA18962.hp2 NA18967.hp1 NA18972.hp2 others(4): Show |
intron_variant | MODIFIER | c.5075-299_5075-287d others(15): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310394 | ||||||
| chr5:128310394
|
ATATATAT others(7): Show |
A | 4 | a0002c0041t0011g0029a0004c0005t0001g0197a0004c0005t0001g0198others(1): Show | 4 | HG02647.hp1 NA18956.hp2 NA18977.hp2 others(1): Show |
intron_variant | MODIFIER | c.5075-300_5075-287d others(16): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310394 | ||||||
| chr5:128310394
|
ATATATAT others(8): Show |
A | 3 | a0001c0001t0001g0184a0001c0001t0002g0070a0002c0034t0004g0038 | 3 | HG01928.hp2 HG02056.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.5075-301_5075-287d others(17): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310394 | ||||||
| chr5:128310394
|
ATATATAT others(9): Show |
A | 4 | a0001c0021t0001g0206a0012c0026t0002g0107a0012c0026t0002g0108others(1): Show | 4 | HG00323.hp2 HG01516.hp2 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.5075-302_5075-287d others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310394 | ||||||
| chr5:128310394
|
ATATATAT others(10): Show |
A | 3 | a0001c0008t0006g0023a0001c0011t0010g0104a0001c0031t0026g0116 | 3 | HG02647.hp2 HG03195.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.5075-303_5075-287d others(19): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310394 | ||||||
| chr5:128310394
|
ATATATAT others(11): Show |
A | 1 | a0002c0029t0027g0118 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.5075-304_5075-287d others(20): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310394 | ||||||
| chr5:128310394
|
ATATATAT others(12): Show |
A | 1 | a0017c0061t0031g0169 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.5075-305_5075-287d others(21): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310394 | ||||||
| chr5:128310394
|
ATATATAT others(13): Show |
A | 1 | a0002c0002t0001g0218 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.5075-306_5075-287d others(22): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310394 | ||||||
| chr5:128310396
|
ATATATAT | A | 12 | a0003c0004t0001g0155a0003c0004t0002g0063a0003c0004t0002g0064others(9): Show | 12 | HG01071.hp1 HG01496.hp1 HG02896.hp1 others(9): Show |
intron_variant | MODIFIER | c.5075-295_5075-289d others(9): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310396 | ||||||
| chr5:128310396
|
ATATATAT others(4): Show |
A | 1 | a0001c0001t0001g0229 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.5075-299_5075-289d others(13): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310396 | ||||||
| chr5:128310396
|
ATATATAT others(5): Show |
A | 3 | a0001c0003t0017g0004a0004c0005t0001g0195a0004c0005t0001g0196 | 3 | HG04115.hp1 NA18967.hp2 NA18998.hp1 |
intron_variant | MODIFIER | c.5075-300_5075-289d others(14): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310396 | ||||||
| chr5:128310396
|
ATATATAT others(6): Show |
A | 4 | a0001c0001t0001g0162a0001c0001t0001g0175a0001c0001t0003g0011others(1): Show | 4 | HG01081.hp1 NA18949.hp1 NA19011.hp1 others(1): Show |
intron_variant | MODIFIER | c.5075-301_5075-289d others(15): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310396 | ||||||
| chr5:128310396
|
ATATATAT others(7): Show |
A | 6 | a0001c0001t0003g0013a0001c0003t0001g0176a0001c0003t0001g0190others(3): Show | 6 | HG01952.hp1 HG02615.hp1 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.5075-302_5075-289d others(16): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310396 | ||||||
| chr5:128310396
|
ATATATAT others(9): Show |
A | 1 | a0001c0003t0001g0180 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.5075-304_5075-289d others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310396 | ||||||
| chr5:128310398
|
ATATAT | A | 5 | a0003c0004t0003g0012a0003c0007t0005g0052a0005c0017t0003g0015others(2): Show | 5 | HG02895.hp1 HG03486.hp2 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.5075-295_5075-291d others(7): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310398 | ||||||
| chr5:128310398
|
ATATATTT others(5): Show |
A | 1 | a0002c0032t0009g0039 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.5075-302_5075-291d others(14): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310398 | ||||||
| chr5:128310398
|
ATATATTT others(6): Show |
A | 1 | a0001c0009t0006g0030 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.5075-303_5075-291d others(15): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310398 | ||||||
| chr5:128310398
|
ATATATTT others(7): Show |
A | 3 | a0001c0003t0001g0174a0001c0003t0001g0178a0001c0003t0001g0179 | 3 | HG00735.hp1 NA19074.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.5075-304_5075-291d others(16): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310398 | ||||||
| chr5:128310398
|
ATATATTT others(8): Show |
A | 2 | a0004c0005t0001g0214a0004c0005t0001g0232 | 2 | NA19056.hp1 NA19056.hp2 |
intron_variant | MODIFIER | c.5075-305_5075-291d others(17): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310398 | ||||||
| chr5:128310400
|
A | T | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.5075-292T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310400 | ||||||
| chr5:128310400
|
ATATTTTT others(4): Show |
A | 1 | a0004c0005t0002g0069 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.5075-303_5075-293d others(13): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310400 | ||||||
| chr5:128310400
|
ATATTTTT others(5): Show |
A | 5 | a0001c0003t0001g0201a0001c0003t0001g0204a0001c0057t0001g0202others(2): Show | 5 | HG01361.hp1 HG02129.hp1 HG02145.hp1 others(2): Show |
intron_variant | MODIFIER | c.5075-304_5075-293d others(14): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310400 | ||||||
| chr5:128310400
|
ATATTTTT others(7): Show |
A | 2 | a0001c0003t0001g0177a0001c0003t0032g0141 | 2 | HG02523.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.5075-306_5075-293d others(16): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310400 | ||||||
| chr5:128310402
|
A | T | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.5075-294T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310402 | ||||||
| chr5:128310402
|
ATTTTTTT others(3): Show |
A | 6 | a0001c0001t0003g0014a0001c0003t0001g0182a0001c0054t0001g0194others(3): Show | 6 | HG00099.hp2 HG01978.hp1 HG02109.hp1 others(3): Show |
intron_variant | MODIFIER | c.5075-304_5075-295d others(12): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310402 | ||||||
| chr5:128310403
|
T | TATA | 3 | a0003c0012t0001g0138a0003c0012t0001g0139a0003c0012t0001g0187 | 3 | HG01192.hp2 HG01256.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.5075-296_5075-295i others(5): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310403 | ||||||
| chr5:128310412
|
T | A | 2 | a0001c0003t0001g0140a0001c0021t0003g0010 | 2 | HG03654.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.5075-304A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310412 | ||||||
| chr5:128310421
|
T | A | 5 | a0005c0017t0003g0015a0005c0019t0003g0006a0005c0019t0003g0009others(2): Show | 5 | NA18940.hp2 NA18960.hp2 NA18993.hp1 others(2): Show |
intron_variant | MODIFIER | c.5075-313A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310421 | ||||||
| chr5:128310434
|
A | C | 1 | a0001c0058t0020g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.5075-326T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310434 | ||||||
| chr5:128310580
|
AAGC | A | 61 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0005g0087others(58): Show | 61 | HG00099.hp2 HG00323.hp2 HG00735.hp1 others(58): Show |
intron_variant | MODIFIER | c.5075-475_5075-473d others(5): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310580 | ||||||
| chr5:128310734
|
T | C | 112 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(109): Show | 112 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(109): Show |
intron_variant | MODIFIER | c.5074+566A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310734 | ||||||
| chr5:128310762
|
T | A | 1 | a0001c0001t0001g0145 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.5074+538A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310762 | ||||||
| chr5:128310851
|
T | C | 1 | a0003c0016t0037g0234 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.5074+449A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310851 | ||||||
| chr5:128310857
|
C | A | 192 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(189): Show | 192 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(189): Show |
intron_variant | MODIFIER | c.5074+443G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128310857 | ||||||
| chr5:128311002
|
T | A | 61 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0005g0087others(58): Show | 61 | HG00099.hp2 HG00323.hp2 HG00735.hp1 others(58): Show |
intron_variant | MODIFIER | c.5074+298A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128311002 | ||||||
| chr5:128311167
|
GA | G | 45 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0003t0001g0140others(42): Show | 45 | HG00099.hp2 HG00323.hp2 HG00735.hp1 others(42): Show |
intron_variant | MODIFIER | c.5074+132delT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | 128311167 | ||||||
| chr5:128311490
|
A | G | 5 | a0003c0010t0008g0085a0003c0016t0037g0234a0003c0044t0004g0053others(2): Show | 5 | HG02055.hp2 HG02818.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.4949-65T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 38/64 | chr5 | 128311490 | ||||||
| chr5:128311570
|
G | A | 3 | a0002c0002t0001g0125a0002c0002t0001g0222a0002c0002t0001g0225 | 3 | HG01975.hp2 NA19084.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.4949-145C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 38/64 | chr5 | 128311570 | ||||||
| chr5:128311610
|
T | C | 1 | a0003c0016t0037g0234 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.4949-185A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 38/64 | chr5 | 128311610 | ||||||
| chr5:128312121
|
A | C | 1 | a0001c0001t0001g0150 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.4880-168T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 37/64 | chr5 | 128312121 | ||||||
| chr5:128312180
|
A | G | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.4880-227T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 37/64 | chr5 | 128312180 | ||||||
| chr5:128312365
|
A | G | 14 | a0003c0006t0004g0042a0003c0006t0004g0044a0003c0006t0004g0045others(11): Show | 14 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.4879+269T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 37/64 | chr5 | 128312365 | ||||||
| chr5:128312496
|
G | A | 102 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(99): Show | 102 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(99): Show |
intron_variant | MODIFIER | c.4879+138C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 37/64 | chr5 | 128312496 | ||||||
| chr5:128312504
|
A | G | 1 | a0003c0016t0037g0234 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.4879+130T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 37/64 | chr5 | 128312504 | ||||||
| chr5:128312808
|
A | G | 14 | a0003c0006t0004g0042a0003c0006t0004g0044a0003c0006t0004g0045others(11): Show | 14 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.4718-13T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128312808 | ||||||
| chr5:128312895
|
G | A | 2 | a0001c0001t0001g0143a0001c0001t0001g0154 | 2 | HG00741.hp2 HG01069.hp2 |
intron_variant | MODIFIER | c.4718-100C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128312895 | ||||||
| chr5:128312966
|
A | T | 1 | a0003c0004t0003g0012 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.4718-171T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128312966 | ||||||
| chr5:128313052
|
A | G | 1 | a0002c0015t0008g0024 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4718-257T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128313052 | ||||||
| chr5:128313224
|
C | T | 200 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(197): Show | 200 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(197): Show |
intron_variant | MODIFIER | c.4718-429G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128313224 | ||||||
| chr5:128313248
|
C | CT | 70 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(67): Show | 70 | HG00140.hp2 HG00323.hp1 HG00558.hp1 others(67): Show |
intron_variant | MODIFIER | c.4718-454dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128313248 | ||||||
| chr5:128313614
|
A | G | 1 | a0002c0002t0001g0217 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.4718-819T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128313614 | ||||||
| chr5:128313722
|
G | A | 14 | a0003c0006t0004g0042a0003c0006t0004g0044a0003c0006t0004g0045others(11): Show | 14 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.4718-927C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128313722 | ||||||
| chr5:128313800
|
C | A | 1 | a0001c0003t0001g0181 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.4718-1005G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128313800 | ||||||
| chr5:128313852
|
C | CA | 97 | a0001c0001t0001g0142a0001c0001t0001g0144a0001c0001t0001g0145others(94): Show | 97 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(94): Show |
intron_variant | MODIFIER | c.4718-1058dupT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128313852 | ||||||
| chr5:128313852
|
C | CAA | 20 | a0001c0001t0001g0126a0001c0001t0001g0143a0001c0001t0001g0146others(17): Show | 20 | HG00741.hp2 HG01109.hp2 HG01928.hp1 others(17): Show |
intron_variant | MODIFIER | c.4718-1059_4718-105 others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128313852 | ||||||
| chr5:128313872
|
A | C | 1 | a0003c0004t0001g0155 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.4718-1077T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128313872 | ||||||
| chr5:128314241
|
C | T | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.4718-1446G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128314241 | ||||||
| chr5:128314407
|
C | CCT | 34 | a0001c0001t0001g0162a0001c0001t0001g0170a0001c0001t0001g0172others(31): Show | 34 | HG00099.hp1 HG00639.hp2 HG01081.hp1 others(31): Show |
intron_variant | MODIFIER | c.4718-1614_4718-161 others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128314407 | ||||||
| chr5:128314475
|
G | A | 8 | a0001c0036t0004g0032a0002c0002t0005g0086a0002c0023t0007g0121others(5): Show | 8 | HG00639.hp1 HG01081.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.4718-1680C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128314475 | ||||||
| chr5:128314476
|
C | T | 1 | a0001c0045t0006g0026 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.4718-1681G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128314476 | ||||||
| chr5:128314786
|
T | G | 1 | a0002c0002t0001g0215 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.4718-1991A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128314786 | ||||||
| chr5:128314868
|
G | A | 12 | a0001c0001t0005g0087a0001c0003t0005g0100a0001c0003t0006g0060others(9): Show | 12 | HG02559.hp2 HG02572.hp1 HG02647.hp2 others(9): Show |
intron_variant | MODIFIER | c.4718-2073C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128314868 | ||||||
| chr5:128315046
|
G | T | 1 | a0001c0011t0009g0065 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.4718-2251C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128315046 | ||||||
| chr5:128315284
|
T | C | 1 | a0001c0028t0002g0022 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.4718-2489A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128315284 | ||||||
| chr5:128315578
|
T | G | 1 | a0001c0001t0003g0014 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.4717+2571A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128315578 | ||||||
| chr5:128315649
|
T | C | 1 | a0002c0060t0007g0228 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.4717+2500A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128315649 | ||||||
| chr5:128315722
|
G | A | 8 | a0001c0036t0004g0032a0002c0002t0005g0086a0002c0023t0007g0121others(5): Show | 8 | HG00639.hp1 HG01081.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.4717+2427C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128315722 | ||||||
| chr5:128316103
|
G | A | 3 | a0001c0028t0002g0022a0001c0045t0006g0026a0019c0046t0010g0027 | 3 | HG02145.hp2 HG02559.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.4717+2046C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128316103 | ||||||
| chr5:128316165
|
G | T | 5 | a0001c0011t0009g0065a0001c0011t0022g0061a0001c0014t0014g0112others(2): Show | 5 | HG02559.hp2 HG02572.hp1 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.4717+1984C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128316165 | ||||||
| chr5:128316303
|
C | A | 2 | a0003c0044t0004g0053a0013c0047t0002g0059 | 2 | HG02055.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.4717+1846G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128316303 | ||||||
| chr5:128316401
|
G | A | 2 | a0002c0002t0001g0212a0002c0002t0001g0213 | 2 | NA18975.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.4717+1748C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128316401 | ||||||
| chr5:128316450
|
T | C | 1 | a0001c0001t0001g0142 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.4717+1699A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128316450 | ||||||
| chr5:128316478
|
C | T | 14 | a0003c0006t0004g0042a0003c0006t0004g0044a0003c0006t0004g0045others(11): Show | 14 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.4717+1671G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128316478 | ||||||
| chr5:128316550
|
C | T | 192 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(189): Show | 192 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(189): Show |
intron_variant | MODIFIER | c.4717+1599G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128316550 | ||||||
| chr5:128316569
|
C | T | 2 | a0003c0004t0001g0160a0003c0064t0004g0080 | 2 | NA18972.hp1 NA18992.hp2 |
intron_variant | MODIFIER | c.4717+1580G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128316569 | ||||||
| chr5:128316836
|
CA | C | 2 | a0003c0044t0004g0053a0013c0047t0002g0059 | 2 | HG02055.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.4717+1312delT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128316836 | ||||||
| chr5:128317027
|
G | C | 14 | a0003c0006t0004g0042a0003c0006t0004g0044a0003c0006t0004g0045others(11): Show | 14 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.4717+1122C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128317027 | ||||||
| chr5:128317093
|
C | T | 1 | a0001c0001t0003g0014 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.4717+1056G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128317093 | ||||||
| chr5:128317185
|
C | T | 1 | a0006c0025t0018g0017 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.4717+964G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128317185 | ||||||
| chr5:128317330
|
A | C | 14 | a0003c0006t0004g0042a0003c0006t0004g0044a0003c0006t0004g0045others(11): Show | 14 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.4717+819T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128317330 | ||||||
| chr5:128317445
|
C | T | 110 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(107): Show | 110 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(107): Show |
intron_variant | MODIFIER | c.4717+704G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128317445 | ||||||
| chr5:128317446
|
A | G | 112 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(109): Show | 112 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(109): Show |
intron_variant | MODIFIER | c.4717+703T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128317446 | ||||||
| chr5:128317577
|
A | C | 1 | a0002c0039t0005g0031 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.4717+572T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128317577 | ||||||
| chr5:128317644
|
T | C | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.4717+505A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128317644 | ||||||
| chr5:128317682
|
G | A | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.4717+467C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128317682 | ||||||
| chr5:128317690
|
C | T | 1 | a0001c0003t0001g0181 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.4717+459G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128317690 | ||||||
| chr5:128317864
|
A | G | 61 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0005g0087others(58): Show | 61 | HG00099.hp2 HG00323.hp2 HG00735.hp1 others(58): Show |
intron_variant | MODIFIER | c.4717+285T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128317864 | ||||||
| chr5:128318057
|
C | T | 1 | a0001c0048t0001g0120 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.4717+92G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128318057 | ||||||
| chr5:128318065
|
A | C | 3 | a0001c0008t0028g0113a0001c0035t0009g0036a0002c0038t0004g0035 | 3 | HG02630.hp1 HG03471.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.4717+84T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 36/64 | chr5 | 128318065 | ||||||
| chr5:128318578
|
G | GTA | 2 | a0003c0006t0004g0042a0003c0013t0007g0171 | 2 | HG01346.hp2 HG03239.hp2 |
intron_variant | MODIFIER | c.4594+299_4594+300d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 35/64 | chr5 | 128318578 | ||||||
| chr5:128318621
|
A | T | 2 | a0002c0032t0009g0039a0002c0041t0011g0029 | 2 | HG02109.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.4594+258T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 35/64 | chr5 | 128318621 | ||||||
| chr5:128318626
|
T | C | 31 | a0001c0001t0001g0162a0001c0001t0001g0170a0001c0001t0001g0172others(28): Show | 31 | HG00099.hp1 HG00639.hp2 HG01081.hp1 others(28): Show |
intron_variant | MODIFIER | c.4594+253A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 35/64 | chr5 | 128318626 | ||||||
| chr5:128319213
|
C | T | 1 | a0001c0001t0003g0011 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.4472-212G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128319213 | ||||||
| chr5:128319438
|
A | AT | 193 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(190): Show | 193 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(190): Show |
intron_variant | MODIFIER | c.4472-438dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128319438 | ||||||
| chr5:128319494
|
AAATTTAG others(2): Show |
A | 62 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0005g0087others(59): Show | 62 | HG00099.hp2 HG00323.hp2 HG00735.hp1 others(59): Show |
intron_variant | MODIFIER | c.4472-502_4472-494d others(11): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128319494 | ||||||
| chr5:128319554
|
A | C | 1 | a0001c0011t0010g0104 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.4472-553T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128319554 | ||||||
| chr5:128319698
|
T | C | 3 | a0006c0025t0009g0091a0006c0025t0018g0017a0022c0066t0021g0101 | 3 | HG02809.hp1 HG03540.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.4472-697A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128319698 | ||||||
| chr5:128319912
|
C | T | 1 | a0020c0043t0019g0018 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.4472-911G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128319912 | ||||||
| chr5:128320009
|
G | C | 1 | a0003c0044t0004g0053 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.4472-1008C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128320009 | ||||||
| chr5:128320037
|
A | G | 15 | a0001c0001t0005g0087a0001c0003t0005g0100a0001c0003t0006g0060others(12): Show | 15 | HG02559.hp2 HG02572.hp1 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.4472-1036T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128320037 | ||||||
| chr5:128320038
|
T | C | 1 | a0003c0004t0033g0128 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.4472-1037A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128320038 | ||||||
| chr5:128320221
|
A | AT | 36 | a0001c0001t0001g0162a0001c0001t0001g0170a0001c0001t0001g0172others(33): Show | 36 | HG00099.hp1 HG00639.hp2 HG01081.hp1 others(33): Show |
intron_variant | MODIFIER | c.4472-1221dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128320221 | ||||||
| chr5:128320346
|
C | T | 3 | a0002c0002t0001g0130a0007c0022t0001g0131a0007c0022t0001g0216 | 3 | HG03017.hp1 HG03491.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.4472-1345G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128320346 | ||||||
| chr5:128320371
|
C | T | 1 | a0001c0001t0003g0011 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.4472-1370G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128320371 | ||||||
| chr5:128320624
|
T | C | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.4472-1623A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128320624 | ||||||
| chr5:128320712
|
T | C | 1 | a0003c0006t0004g0050 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.4472-1711A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128320712 | ||||||
| chr5:128321029
|
C | T | 2 | a0003c0044t0004g0053a0013c0047t0002g0059 | 2 | HG02055.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.4472-2028G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128321029 | ||||||
| chr5:128321153
|
A | C | 5 | a0001c0001t0001g0170a0001c0001t0001g0229a0001c0001t0002g0072others(2): Show | 5 | HG00639.hp2 HG01516.hp1 HG01952.hp2 others(2): Show |
intron_variant | MODIFIER | c.4472-2152T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128321153 | ||||||
| chr5:128321253
|
T | C | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.4472-2252A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128321253 | ||||||
| chr5:128321364
|
G | A | 80 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0005g0087others(77): Show | 80 | HG00099.hp2 HG00323.hp2 HG00735.hp1 others(77): Show |
intron_variant | MODIFIER | c.4472-2363C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128321364 | ||||||
| chr5:128321415
|
G | A | 6 | a0003c0004t0002g0063a0003c0004t0002g0064a0003c0004t0002g0103others(3): Show | 6 | HG02895.hp2 HG02896.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.4472-2414C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128321415 | ||||||
| chr5:128321470
|
G | A | 1 | a0001c0054t0001g0194 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.4472-2469C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128321470 | ||||||
| chr5:128321576
|
A | G | 30 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(27): Show | 30 | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(27): Show |
intron_variant | MODIFIER | c.4472-2575T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128321576 | ||||||
| chr5:128321643
|
T | C | 14 | a0003c0006t0004g0042a0003c0006t0004g0044a0003c0006t0004g0045others(11): Show | 14 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.4472-2642A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128321643 | ||||||
| chr5:128321710
|
G | A | 1 | a0001c0054t0001g0194 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.4472-2709C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128321710 | ||||||
| chr5:128322065
|
G | A | 6 | a0001c0003t0032g0141a0001c0033t0005g0037a0002c0055t0008g0093others(3): Show | 6 | HG02280.hp1 HG02717.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.4472-3064C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128322065 | ||||||
| chr5:128322271
|
A | G | 14 | a0003c0006t0004g0042a0003c0006t0004g0044a0003c0006t0004g0045others(11): Show | 14 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.4472-3270T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128322271 | ||||||
| chr5:128322459
|
G | A | 1 | a0001c0001t0001g0164 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.4472-3458C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128322459 | ||||||
| chr5:128322467
|
G | A | 1 | a0022c0066t0021g0101 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.4472-3466C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128322467 | ||||||
| chr5:128322635
|
T | C | 2 | a0002c0032t0009g0039a0002c0041t0011g0029 | 2 | HG02109.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.4472-3634A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128322635 | ||||||
| chr5:128322669
|
G | A | 1 | a0002c0002t0001g0215 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.4472-3668C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128322669 | ||||||
| chr5:128322674
|
T | C | 1 | a0002c0002t0001g0132 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.4472-3673A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128322674 | ||||||
| chr5:128322742
|
T | C | 1 | a0001c0003t0001g0201 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.4472-3741A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128322742 | ||||||
| chr5:128322853
|
A | C | 14 | a0003c0006t0004g0042a0003c0006t0004g0044a0003c0006t0004g0045others(11): Show | 14 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.4472-3852T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128322853 | ||||||
| chr5:128322898
|
C | T | 2 | a0002c0032t0009g0039a0002c0041t0011g0029 | 2 | HG02109.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.4472-3897G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128322898 | ||||||
| chr5:128323360
|
C | T | 2 | a0008c0042t0012g0054a0008c0063t0012g0096 | 2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.4472-4359G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128323360 | ||||||
| chr5:128323455
|
T | G | 1 | a0003c0004t0002g0088 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.4472-4454A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128323455 | ||||||
| chr5:128323520
|
G | A | 1 | a0002c0002t0001g0183 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.4472-4519C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128323520 | ||||||
| chr5:128323568
|
G | C | 111 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(108): Show | 111 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(108): Show |
intron_variant | MODIFIER | c.4472-4567C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128323568 | ||||||
| chr5:128323686
|
G | A | 4 | a0003c0006t0004g0046a0003c0006t0004g0048a0009c0024t0007g0122others(1): Show | 4 | NA18964.hp2 NA18990.hp1 NA19003.hp2 others(1): Show |
intron_variant | MODIFIER | c.4472-4685C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128323686 | ||||||
| chr5:128324118
|
G | C | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.4471+4578C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128324118 | ||||||
| chr5:128324138
|
C | G | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.4471+4558G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128324138 | ||||||
| chr5:128324252
|
T | C | 1 | a0011c0018t0003g0007 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.4471+4444A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128324252 | ||||||
| chr5:128324428
|
T | C | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.4471+4268A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128324428 | ||||||
| chr5:128324575
|
T | G | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.4471+4121A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128324575 | ||||||
| chr5:128324587
|
T | C | 1 | a0001c0003t0005g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.4471+4109A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128324587 | ||||||
| chr5:128324619
|
C | CT | 19 | a0001c0001t0002g0072a0001c0001t0005g0087a0001c0003t0005g0100others(16): Show | 19 | HG02257.hp1 HG02559.hp2 HG02572.hp1 others(16): Show |
intron_variant | MODIFIER | c.4471+4076dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128324619 | ||||||
| chr5:128324647
|
C | T | 2 | a0002c0002t0005g0102a0025c0069t0005g0109 | 2 | HG02630.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.4471+4049G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128324647 | ||||||
| chr5:128324657
|
A | G | 1 | a0005c0017t0003g0008 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.4471+4039T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128324657 | ||||||
| chr5:128324663
|
C | G | 192 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(189): Show | 192 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(189): Show |
intron_variant | MODIFIER | c.4471+4033G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128324663 | ||||||
| chr5:128324675
|
T | C | 23 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0144others(20): Show | 23 | HG00140.hp2 HG00323.hp1 HG00558.hp2 others(20): Show |
intron_variant | MODIFIER | c.4471+4021A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128324675 | ||||||
| chr5:128324694
|
T | G | 1 | a0001c0003t0001g0182 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.4471+4002A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128324694 | ||||||
| chr5:128324777
|
C | T | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.4471+3919G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128324777 | ||||||
| chr5:128324924
|
T | C | 8 | a0001c0036t0004g0032a0002c0002t0005g0086a0002c0023t0007g0121others(5): Show | 8 | HG00639.hp1 HG01081.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.4471+3772A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128324924 | ||||||
| chr5:128324974
|
CTGTT | C | 2 | a0002c0002t0001g0135a0002c0002t0015g0134 | 2 | HG01074.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.4471+3718_4471+372 others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128324974 | ||||||
| chr5:128325079
|
T | C | 4 | a0003c0006t0004g0044a0003c0006t0004g0045a0003c0006t0004g0047others(1): Show | 4 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(1): Show |
intron_variant | MODIFIER | c.4471+3617A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128325079 | ||||||
| chr5:128325699
|
A | C | 1 | a0003c0044t0004g0053 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.4471+2997T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128325699 | ||||||
| chr5:128325996
|
T | C | 1 | a0001c0001t0002g0082 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.4471+2700A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128325996 | ||||||
| chr5:128326041
|
C | T | 6 | a0001c0011t0009g0065a0001c0011t0010g0104a0001c0011t0022g0061others(3): Show | 6 | HG02559.hp2 HG02572.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.4471+2655G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128326041 | ||||||
| chr5:128326097
|
G | C | 1 | a0002c0002t0001g0215 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.4471+2599C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128326097 | ||||||
| chr5:128326195
|
C | T | 33 | a0001c0001t0001g0231a0002c0002t0001g0125a0002c0002t0001g0130others(30): Show | 33 | HG00558.hp1 HG00609.hp1 HG01074.hp2 others(30): Show |
intron_variant | MODIFIER | c.4471+2501G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128326195 | ||||||
| chr5:128326284
|
G | A | 99 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(96): Show | 99 | HG00099.hp1 HG00323.hp1 HG00558.hp1 others(96): Show |
intron_variant | MODIFIER | c.4471+2412C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128326284 | ||||||
| chr5:128326375
|
T | C | 9 | a0001c0036t0004g0032a0002c0002t0005g0086a0002c0023t0007g0121others(6): Show | 9 | HG00639.hp1 HG01081.hp2 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.4471+2321A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128326375 | ||||||
| chr5:128326409
|
A | G | 1 | a0002c0002t0002g0074 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.4471+2287T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128326409 | ||||||
| chr5:128326853
|
A | G | 112 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(109): Show | 112 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(109): Show |
intron_variant | MODIFIER | c.4471+1843T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128326853 | ||||||
| chr5:128327014
|
C | T | 46 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0003t0001g0140others(43): Show | 46 | HG00099.hp2 HG00323.hp2 HG00735.hp1 others(43): Show |
intron_variant | MODIFIER | c.4471+1682G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128327014 | ||||||
| chr5:128327183
|
T | C | 61 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0005g0087others(58): Show | 61 | HG00099.hp2 HG00323.hp2 HG00735.hp1 others(58): Show |
intron_variant | MODIFIER | c.4471+1513A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128327183 | ||||||
| chr5:128327210
|
C | T | 1 | a0001c0057t0001g0202 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.4471+1486G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128327210 | ||||||
| chr5:128327297
|
T | C | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.4471+1399A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128327297 | ||||||
| chr5:128327332
|
C | T | 2 | a0003c0012t0001g0138a0003c0012t0001g0139 | 2 | HG01256.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.4471+1364G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128327332 | ||||||
| chr5:128327552
|
T | C | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.4471+1144A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128327552 | ||||||
| chr5:128327572
|
A | AT | 125 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(122): Show | 125 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.4471+1123dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128327572 | ||||||
| chr5:128327572
|
A | T | 1 | a0002c0002t0001g0210 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.4471+1124T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128327572 | ||||||
| chr5:128327700
|
G | A | 22 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0003t0001g0140others(19): Show | 22 | HG00735.hp1 HG01109.hp2 HG01952.hp1 others(19): Show |
intron_variant | MODIFIER | c.4471+996C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128327700 | ||||||
| chr5:128327715
|
C | T | 2 | a0003c0044t0004g0053a0013c0047t0002g0059 | 2 | HG02055.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.4471+981G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128327715 | ||||||
| chr5:128327797
|
C | T | 1 | a0003c0006t0004g0046 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.4471+899G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128327797 | ||||||
| chr5:128327804
|
A | G | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.4471+892T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128327804 | ||||||
| chr5:128327887
|
T | C | 192 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(189): Show | 192 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(189): Show |
intron_variant | MODIFIER | c.4471+809A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128327887 | ||||||
| chr5:128328148
|
T | C | 1 | a0001c0003t0001g0204 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.4471+548A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 34/64 | chr5 | 128328148 | ||||||
| chr5:128329088
|
C | T | 1 | a0003c0016t0037g0234 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.4346-267G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 33/64 | chr5 | 128329088 | ||||||
| chr5:128329145
|
T | C | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.4346-324A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 33/64 | chr5 | 128329145 | ||||||
| chr5:128329214
|
G | A | 1 | a0002c0002t0002g0078 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.4346-393C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 33/64 | chr5 | 128329214 | ||||||
| chr5:128329640
|
G | A | 1 | a0001c0001t0030g0119 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.4346-819C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 33/64 | chr5 | 128329640 | ||||||
| chr5:128329824
|
A | G | 1 | a0005c0017t0003g0008 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.4345+749T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 33/64 | chr5 | 128329824 | ||||||
| chr5:128329854
|
T | C | 1 | a0003c0016t0037g0234 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.4345+719A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 33/64 | chr5 | 128329854 | ||||||
| chr5:128330098
|
T | C | 1 | a0001c0003t0001g0182 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.4345+475A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 33/64 | chr5 | 128330098 | ||||||
| chr5:128330103
|
T | C | 2 | a0002c0002t0005g0102a0025c0069t0005g0109 | 2 | HG02630.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.4345+470A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 33/64 | chr5 | 128330103 | ||||||
| chr5:128330244
|
G | A | 61 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0005g0087others(58): Show | 61 | HG00099.hp2 HG00323.hp2 HG00735.hp1 others(58): Show |
intron_variant | MODIFIER | c.4345+329C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 33/64 | chr5 | 128330244 | ||||||
| chr5:128330390
|
T | C | 33 | a0001c0001t0001g0231a0002c0002t0001g0125a0002c0002t0001g0130others(30): Show | 33 | HG00558.hp1 HG00609.hp1 HG01074.hp2 others(30): Show |
intron_variant | MODIFIER | c.4345+183A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 33/64 | chr5 | 128330390 | ||||||
| chr5:128330440
|
T | A | 1 | a0002c0002t0002g0067 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.4345+133A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 33/64 | chr5 | 128330440 | ||||||
| chr5:128330501
|
T | C | 1 | a0002c0023t0007g0121 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.4345+72A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 33/64 | chr5 | 128330501 | ||||||
| chr5:128330864
|
G | A | 1 | a0003c0016t0002g0043 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.4223-169C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 32/64 | chr5 | 128330864 | ||||||
| chr5:128330873
|
T | C | 72 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(69): Show | 72 | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(69): Show |
intron_variant | MODIFIER | c.4223-178A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 32/64 | chr5 | 128330873 | ||||||
| chr5:128330921
|
C | T | 1 | a0001c0008t0029g0117 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.4223-226G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 32/64 | chr5 | 128330921 | ||||||
| chr5:128330965
|
T | A | 1 | a0001c0001t0002g0070 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.4223-270A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 32/64 | chr5 | 128330965 | ||||||
| chr5:128331220
|
G | C | 2 | a0002c0002t0005g0102a0025c0069t0005g0109 | 2 | HG02630.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.4223-525C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 32/64 | chr5 | 128331220 | ||||||
| chr5:128331465
|
T | G | 1 | a0010c0020t0001g0149 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.4223-770A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 32/64 | chr5 | 128331465 | ||||||
| chr5:128331566
|
C | T | 1 | a0001c0001t0003g0013 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.4223-871G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 32/64 | chr5 | 128331566 | ||||||
| chr5:128331602
|
G | A | 3 | a0001c0008t0028g0113a0001c0035t0009g0036a0002c0038t0004g0035 | 3 | HG02630.hp1 HG03471.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.4223-907C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 32/64 | chr5 | 128331602 | ||||||
| chr5:128331615
|
T | C | 2 | a0003c0044t0004g0053a0013c0047t0002g0059 | 2 | HG02055.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.4223-920A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 32/64 | chr5 | 128331615 | ||||||
| chr5:128331677
|
G | A | 38 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0164others(35): Show | 38 | HG00558.hp1 HG00609.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.4223-982C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 32/64 | chr5 | 128331677 | ||||||
| chr5:128331800
|
C | T | 2 | a0003c0006t0004g0051a0003c0013t0007g0203 | 2 | HG01358.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.4223-1105G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 32/64 | chr5 | 128331800 | ||||||
| chr5:128331921
|
C | T | 59 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(56): Show | 59 | HG00323.hp1 HG00558.hp1 HG00558.hp2 others(56): Show |
intron_variant | MODIFIER | c.4222+991G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 32/64 | chr5 | 128331921 | ||||||
| chr5:128331938
|
G | A | 1 | a0003c0016t0037g0234 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.4222+974C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 32/64 | chr5 | 128331938 | ||||||
| chr5:128332022
|
T | C | 2 | a0008c0042t0012g0054a0008c0063t0012g0096 | 2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.4222+890A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 32/64 | chr5 | 128332022 | ||||||
| chr5:128332432
|
T | C | 1 | a0001c0008t0028g0113 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.4222+480A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 32/64 | chr5 | 128332432 | ||||||
| chr5:128332618
|
T | C | 1 | a0003c0016t0037g0234 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.4222+294A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 32/64 | chr5 | 128332618 | ||||||
| chr5:128333164
|
A | G | 3 | a0002c0002t0001g0130a0007c0022t0001g0131a0007c0022t0001g0216 | 3 | HG03017.hp1 HG03491.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.4100-130T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333164 | ||||||
| chr5:128333250
|
G | T | 57 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(54): Show | 57 | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(54): Show |
intron_variant | MODIFIER | c.4100-216C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333250 | ||||||
| chr5:128333299
|
C | T | 228 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(225): Show | 228 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(225): Show |
intron_variant | MODIFIER | c.4100-265G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333299 | ||||||
| chr5:128333389
|
A | C | 1 | a0001c0001t0002g0077 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.4100-355T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333389 | ||||||
| chr5:128333404
|
T | A | 1 | a0001c0001t0002g0079 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.4100-370A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333404 | ||||||
| chr5:128333407
|
T | C | 1 | a0001c0031t0026g0116 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.4100-373A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333407 | ||||||
| chr5:128333806
|
T | G | 30 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(27): Show | 30 | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(27): Show |
intron_variant | MODIFIER | c.4100-772A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333806 | ||||||
| chr5:128333839
|
T | TCA | 10 | a0001c0003t0001g0230a0003c0004t0001g0160a0003c0004t0002g0063others(7): Show | 10 | HG01361.hp1 HG02895.hp2 HG02896.hp1 others(7): Show |
intron_variant | MODIFIER | c.4100-807_4100-806d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333839 | ||||||
| chr5:128333839
|
T | TCACA | 8 | a0001c0003t0001g0174a0001c0003t0001g0176a0001c0003t0001g0178others(5): Show | 8 | HG00735.hp1 HG01109.hp2 HG01952.hp1 others(5): Show |
intron_variant | MODIFIER | c.4100-809_4100-806d others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333839 | ||||||
| chr5:128333839
|
T | TCACACA | 10 | a0001c0001t0003g0013a0001c0003t0001g0177a0001c0003t0001g0180others(7): Show | 10 | HG00099.hp2 HG02055.hp2 HG02056.hp2 others(7): Show |
intron_variant | MODIFIER | c.4100-811_4100-806d others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333839 | ||||||
| chr5:128333839
|
T | TCACACAC others(1): Show |
28 | a0001c0001t0001g0143a0001c0001t0001g0146a0001c0001t0001g0150others(25): Show | 28 | HG00140.hp2 HG00323.hp2 HG00735.hp2 others(25): Show |
intron_variant | MODIFIER | c.4100-813_4100-806d others(10): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333839 | ||||||
| chr5:128333839
|
T | TCACACAC others(3): Show |
7 | a0001c0001t0003g0014a0001c0003t0001g0140a0001c0033t0005g0037others(4): Show | 7 | HG02698.hp1 HG02965.hp2 HG03209.hp2 others(4): Show |
intron_variant | MODIFIER | c.4100-815_4100-806d others(12): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333839 | ||||||
| chr5:128333839
|
T | TCACACAC others(5): Show |
2 | a0001c0003t0001g0201a0004c0005t0001g0205 | 2 | HG02145.hp1 NA18949.hp1 |
intron_variant | MODIFIER | c.4100-817_4100-806d others(14): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333839 | ||||||
| chr5:128333839
|
T | TCACACAC others(7): Show |
3 | a0001c0001t0001g0144a0001c0001t0001g0145a0001c0003t0001g0204 | 3 | HG01071.hp2 HG01106.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.4100-819_4100-806d others(16): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333839 | ||||||
| chr5:128333839
|
TCA | T | 6 | a0003c0004t0003g0012a0003c0004t0006g0095a0003c0007t0006g0055others(3): Show | 6 | HG01069.hp1 HG01071.hp1 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.4100-807_4100-806d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333839 | ||||||
| chr5:128333839
|
TCACA | T | 15 | a0001c0011t0009g0065a0001c0011t0010g0104a0001c0011t0022g0061others(12): Show | 15 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(12): Show |
intron_variant | MODIFIER | c.4100-809_4100-806d others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333839 | ||||||
| chr5:128333839
|
TCACACA | T | 14 | a0001c0001t0005g0087a0001c0003t0005g0100a0001c0003t0006g0060others(11): Show | 14 | HG01346.hp2 HG01358.hp2 HG02717.hp2 others(11): Show |
intron_variant | MODIFIER | c.4100-811_4100-806d others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333839 | ||||||
| chr5:128333839
|
TCACACAC others(1): Show |
T | 4 | a0001c0008t0006g0023a0001c0008t0028g0113a0001c0035t0009g0036others(1): Show | 4 | HG02630.hp1 HG03471.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.4100-813_4100-806d others(10): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333839 | ||||||
| chr5:128333869
|
ACACAC | A | 2 | a0002c0032t0009g0039a0002c0041t0011g0029 | 2 | HG02109.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.4100-840_4100-836d others(7): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333869 | ||||||
| chr5:128333871
|
ACAC | A | 2 | a0002c0002t0002g0078a0002c0015t0008g0024 | 2 | HG00558.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.4100-840_4100-838d others(5): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333871 | ||||||
| chr5:128333873
|
AC | A | 86 | a0001c0001t0001g0126a0001c0001t0001g0147a0001c0001t0001g0148others(83): Show | 86 | HG00099.hp1 HG00323.hp1 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.4100-840delG | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333873 | ||||||
| chr5:128333874
|
C | CA | 8 | a0001c0001t0001g0142a0001c0001t0001g0156a0001c0001t0002g0071others(5): Show | 8 | HG00639.hp1 HG01081.hp1 HG01081.hp2 others(5): Show |
intron_variant | MODIFIER | c.4100-841dupT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333874 | ||||||
| chr5:128333874
|
C | CACA | 2 | a0001c0001t0001g0127a0002c0002t0001g0221 | 2 | HG02523.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.4100-841_4100-840i others(5): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128333874 | ||||||
| chr5:128334034
|
T | C | 5 | a0004c0005t0001g0195a0004c0005t0001g0196a0004c0005t0001g0197others(2): Show | 5 | NA18956.hp2 NA18967.hp2 NA18977.hp2 others(2): Show |
intron_variant | MODIFIER | c.4099+685A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128334034 | ||||||
| chr5:128334267
|
A | C | 1 | a0017c0061t0031g0169 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.4099+452T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128334267 | ||||||
| chr5:128334281
|
A | G | 15 | a0003c0004t0001g0155a0003c0006t0004g0042a0003c0006t0004g0044others(12): Show | 15 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(12): Show |
intron_variant | MODIFIER | c.4099+438T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128334281 | ||||||
| chr5:128334295
|
A | C | 2 | a0002c0032t0009g0039a0002c0041t0011g0029 | 2 | HG02109.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.4099+424T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128334295 | ||||||
| chr5:128334347
|
C | T | 4 | a0001c0028t0002g0022a0001c0045t0006g0026a0002c0002t0001g0183others(1): Show | 4 | HG00609.hp1 HG02145.hp2 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.4099+372G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128334347 | ||||||
| chr5:128334508
|
C | T | 1 | a0001c0003t0032g0141 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.4099+211G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 31/64 | chr5 | 128334508 | ||||||
| chr5:128334863
|
A | G | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.3974-19T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 30/64 | chr5 | 128334863 | ||||||
| chr5:128334877
|
G | GCTCATCA others(342): Show |
1 | a0004c0005t0001g0193 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.3974-34_3974-33ins others(349): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 30/64 | chr5 | 128334877 | ||||||
| chr5:128334911
|
C | T | 2 | a0001c0001t0001g0147a0001c0001t0001g0148 | 2 | HG00323.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.3974-67G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 30/64 | chr5 | 128334911 | ||||||
| chr5:128335118
|
G | C | 4 | a0003c0006t0004g0042a0003c0006t0004g0051a0003c0013t0007g0171others(1): Show | 4 | HG01346.hp2 HG01358.hp2 HG03239.hp2 others(1): Show |
intron_variant | MODIFIER | c.3973+52C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 30/64 | chr5 | 128335118 | ||||||
| chr5:128335305
|
C | A | 3 | a0006c0025t0009g0091a0006c0025t0018g0017a0022c0066t0021g0101 | 3 | HG02809.hp1 HG03540.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.3848-10G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 29/64 | chr5 | 128335305 | ||||||
| chr5:128335434
|
T | C | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.3847+21A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 29/64 | chr5 | 128335434 | ||||||
| chr5:128335931
|
G | A | 1 | a0003c0004t0036g0233 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.3724+57C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 28/64 | chr5 | 128335931 | ||||||
| chr5:128336232
|
A | G | 110 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(107): Show | 110 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(107): Show |
intron_variant | MODIFIER | c.3599-119T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 27/64 | chr5 | 128336232 | ||||||
| chr5:128336620
|
C | G | 110 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(107): Show | 110 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(107): Show |
intron_variant | MODIFIER | c.3599-507G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 27/64 | chr5 | 128336620 | ||||||
| chr5:128336684
|
G | A | 1 | a0003c0016t0037g0234 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3599-571C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 27/64 | chr5 | 128336684 | ||||||
| chr5:128336812
|
G | A | 1 | a0002c0002t0001g0207 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.3599-699C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 27/64 | chr5 | 128336812 | ||||||
| chr5:128336819
|
T | C | 1 | a0002c0002t0001g0161 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.3599-706A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 27/64 | chr5 | 128336819 | ||||||
| chr5:128336863
|
C | T | 34 | a0001c0001t0001g0162a0001c0001t0001g0170a0001c0001t0001g0172others(31): Show | 34 | HG00099.hp1 HG00639.hp2 HG01081.hp1 others(31): Show |
intron_variant | MODIFIER | c.3599-750G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 27/64 | chr5 | 128336863 | ||||||
| chr5:128336996
|
A | C | 1 | a0007c0022t0001g0131 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.3599-883T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 27/64 | chr5 | 128336996 | ||||||
| chr5:128336999
|
G | A | 2 | a0003c0044t0004g0053a0013c0047t0002g0059 | 2 | HG02055.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.3599-886C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 27/64 | chr5 | 128336999 | ||||||
| chr5:128337145
|
C | A | 61 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0005g0087others(58): Show | 61 | HG00099.hp2 HG00323.hp2 HG00735.hp1 others(58): Show |
intron_variant | MODIFIER | c.3598+852G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 27/64 | chr5 | 128337145 | ||||||
| chr5:128337310
|
TG | T | 3 | a0002c0015t0008g0024a0002c0015t0010g0025a0002c0034t0004g0038 | 3 | HG02818.hp2 HG03471.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3598+686delC | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 27/64 | chr5 | 128337310 | ||||||
| chr5:128337429
|
T | C | 34 | a0001c0001t0001g0162a0001c0001t0001g0170a0001c0001t0001g0172others(31): Show | 34 | HG00099.hp1 HG00639.hp2 HG01081.hp1 others(31): Show |
intron_variant | MODIFIER | c.3598+568A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 27/64 | chr5 | 128337429 | ||||||
| chr5:128337509
|
C | A | 3 | a0001c0008t0028g0113a0001c0035t0009g0036a0002c0038t0004g0035 | 3 | HG02630.hp1 HG03471.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.3598+488G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 27/64 | chr5 | 128337509 | ||||||
| chr5:128337545
|
G | A | 14 | a0003c0006t0004g0042a0003c0006t0004g0044a0003c0006t0004g0045others(11): Show | 14 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.3598+452C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 27/64 | chr5 | 128337545 | ||||||
| chr5:128337583
|
C | T | 1 | a0002c0055t0008g0093 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.3598+414G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 27/64 | chr5 | 128337583 | ||||||
| chr5:128337827
|
C | T | 1 | a0020c0043t0019g0018 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.3598+170G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 27/64 | chr5 | 128337827 | ||||||
| chr5:128337957
|
T | C | 1 | a0003c0004t0003g0012 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.3598+40A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 27/64 | chr5 | 128337957 | ||||||
| chr5:128338154
|
A | T | 1 | a0001c0001t0001g0226 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.3473-32T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 26/64 | chr5 | 128338154 | ||||||
| chr5:128338415
|
A | G | 1 | a0001c0003t0001g0173 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.3473-293T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 26/64 | chr5 | 128338415 | ||||||
| chr5:128338440
|
G | A | 189 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(186): Show | 189 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(186): Show |
intron_variant | MODIFIER | c.3473-318C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 26/64 | chr5 | 128338440 | ||||||
| chr5:128338512
|
A | G | 92 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(89): Show | 92 | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.3473-390T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 26/64 | chr5 | 128338512 | ||||||
| chr5:128338529
|
G | A | 1 | a0001c0003t0017g0004 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.3472+404C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 26/64 | chr5 | 128338529 | ||||||
| chr5:128338605
|
A | T | 5 | a0001c0001t0005g0087a0001c0003t0006g0060a0001c0008t0006g0023others(2): Show | 5 | HG02717.hp2 HG03041.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.3472+328T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 26/64 | chr5 | 128338605 | ||||||
| chr5:128338768
|
T | C | 1 | a0001c0003t0001g0178 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.3472+165A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 26/64 | chr5 | 128338768 | ||||||
| chr5:128338840
|
G | A | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.3472+93C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 26/64 | chr5 | 128338840 | ||||||
| chr5:128338860
|
C | T | 1 | a0001c0001t0002g0070 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.3472+73G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 26/64 | chr5 | 128338860 | ||||||
| chr5:128339114
|
C | T | 1 | a0002c0037t0023g0034 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3344-53G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128339114 | ||||||
| chr5:128339189
|
A | G | 1 | a0002c0002t0001g0207 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.3344-128T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128339189 | ||||||
| chr5:128339325
|
C | T | 1 | a0001c0001t0001g0164 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.3344-264G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128339325 | ||||||
| chr5:128339326
|
G | A | 1 | a0004c0005t0001g0205 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.3344-265C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128339326 | ||||||
| chr5:128339338
|
G | A | 2 | a0002c0002t0005g0102a0025c0069t0005g0109 | 2 | HG02630.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.3344-277C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128339338 | ||||||
| chr5:128339613
|
T | C | 1 | a0003c0004t0033g0128 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3344-552A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128339613 | ||||||
| chr5:128339644
|
G | T | 1 | a0001c0003t0032g0141 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.3344-583C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128339644 | ||||||
| chr5:128339663
|
G | C | 14 | a0003c0006t0004g0042a0003c0006t0004g0044a0003c0006t0004g0045others(11): Show | 14 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.3344-602C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128339663 | ||||||
| chr5:128339931
|
T | C | 1 | a0002c0002t0001g0220 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.3344-870A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128339931 | ||||||
| chr5:128339956
|
T | C | 29 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0144others(26): Show | 29 | HG00140.hp2 HG00323.hp1 HG00558.hp2 others(26): Show |
intron_variant | MODIFIER | c.3344-895A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128339956 | ||||||
| chr5:128339999
|
T | TC | 14 | a0003c0006t0004g0042a0003c0006t0004g0044a0003c0006t0004g0045others(11): Show | 14 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.3344-939dupG | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128339999 | ||||||
| chr5:128340003
|
C | G | 1 | a0003c0065t0011g0084 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3344-942G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128340003 | ||||||
| chr5:128340115
|
T | C | 2 | a0003c0006t0004g0042a0003c0013t0007g0171 | 2 | HG01346.hp2 HG03239.hp2 |
intron_variant | MODIFIER | c.3344-1054A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128340115 | ||||||
| chr5:128340130
|
A | C | 62 | a0001c0001t0001g0175a0001c0001t0003g0013a0001c0001t0003g0014others(59): Show | 62 | HG00099.hp2 HG00323.hp2 HG00735.hp1 others(59): Show |
intron_variant | MODIFIER | c.3344-1069T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128340130 | ||||||
| chr5:128340219
|
C | T | 2 | a0002c0032t0009g0039a0002c0041t0011g0029 | 2 | HG02109.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.3344-1158G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128340219 | ||||||
| chr5:128340359
|
C | A | 1 | a0001c0008t0028g0113 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3344-1298G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128340359 | ||||||
| chr5:128340405
|
T | C | 190 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(187): Show | 190 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(187): Show |
intron_variant | MODIFIER | c.3344-1344A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128340405 | ||||||
| chr5:128340673
|
G | A | 14 | a0003c0006t0004g0042a0003c0006t0004g0044a0003c0006t0004g0045others(11): Show | 14 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.3344-1612C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128340673 | ||||||
| chr5:128340818
|
C | CCT | 4 | a0001c0001t0001g0186a0001c0050t0001g0208a0002c0002t0005g0102others(1): Show | 4 | HG02273.hp2 HG02630.hp2 HG04204.hp1 others(1): Show |
intron_variant | MODIFIER | c.3344-1759_3344-175 others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128340818 | ||||||
| chr5:128340833
|
C | A | 3 | a0003c0044t0004g0053a0008c0042t0012g0054a0008c0063t0012g0096 | 3 | HG02055.hp2 HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.3344-1772G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128340833 | ||||||
| chr5:128340833
|
C | CTA | 2 | a0001c0001t0002g0072a0002c0015t0010g0025 | 2 | HG02818.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.3344-1773_3344-177 others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128340833 | ||||||
| chr5:128340835
|
C | A | 115 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0144others(112): Show | 115 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(112): Show |
intron_variant | MODIFIER | c.3344-1774G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128340835 | ||||||
| chr5:128340835
|
C | CTA | 33 | a0001c0001t0001g0162a0001c0001t0001g0170a0001c0001t0001g0172others(30): Show | 33 | HG00099.hp1 HG00639.hp2 HG01081.hp1 others(30): Show |
intron_variant | MODIFIER | c.3344-1776_3344-177 others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128340835 | ||||||
| chr5:128340943
|
TAG | T | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.3344-1884_3344-188 others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128340943 | ||||||
| chr5:128340949
|
G | T | 1 | a0001c0008t0025g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3344-1888C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128340949 | ||||||
| chr5:128341034
|
C | A | 1 | a0001c0028t0002g0022 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.3344-1973G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128341034 | ||||||
| chr5:128341062
|
T | C | 1 | a0001c0028t0002g0022 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.3344-2001A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128341062 | ||||||
| chr5:128341176
|
C | G | 73 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(70): Show | 73 | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.3344-2115G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128341176 | ||||||
| chr5:128341469
|
C | T | 2 | a0003c0044t0004g0053a0013c0047t0002g0059 | 2 | HG02055.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.3344-2408G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128341469 | ||||||
| chr5:128341496
|
T | C | 86 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0162others(83): Show | 86 | HG00099.hp1 HG00558.hp1 HG00609.hp1 others(83): Show |
intron_variant | MODIFIER | c.3344-2435A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128341496 | ||||||
| chr5:128341502
|
T | C | 33 | a0001c0001t0001g0162a0001c0001t0001g0170a0001c0001t0001g0172others(30): Show | 33 | HG00099.hp1 HG00639.hp2 HG01081.hp1 others(30): Show |
intron_variant | MODIFIER | c.3344-2441A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128341502 | ||||||
| chr5:128341521
|
G | A | 1 | a0003c0016t0037g0234 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3344-2460C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128341521 | ||||||
| chr5:128341638
|
C | T | 3 | a0001c0028t0002g0022a0001c0045t0006g0026a0019c0046t0010g0027 | 3 | HG02145.hp2 HG02559.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.3344-2577G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128341638 | ||||||
| chr5:128341889
|
C | T | 5 | a0001c0003t0001g0140a0001c0003t0001g0201a0001c0003t0001g0204others(2): Show | 5 | HG02145.hp1 HG02698.hp1 HG03654.hp1 others(2): Show |
intron_variant | MODIFIER | c.3343+2496G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128341889 | ||||||
| chr5:128341890
|
G | A | 1 | a0001c0031t0026g0116 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.3343+2495C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128341890 | ||||||
| chr5:128341921
|
A | G | 190 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(187): Show | 190 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(187): Show |
intron_variant | MODIFIER | c.3343+2464T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128341921 | ||||||
| chr5:128342173
|
G | A | 1 | a0001c0050t0001g0208 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.3343+2212C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128342173 | ||||||
| chr5:128342182
|
C | T | 1 | a0003c0016t0037g0234 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3343+2203G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128342182 | ||||||
| chr5:128342341
|
C | T | 1 | a0005c0019t0003g0009 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.3343+2044G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128342341 | ||||||
| chr5:128342419
|
G | T | 2 | a0002c0032t0009g0039a0002c0041t0011g0029 | 2 | HG02109.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.3343+1966C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128342419 | ||||||
| chr5:128342425
|
G | T | 2 | a0003c0044t0004g0053a0013c0047t0002g0059 | 2 | HG02055.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.3343+1960C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128342425 | ||||||
| chr5:128342495
|
G | A | 1 | a0001c0001t0005g0087 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3343+1890C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128342495 | ||||||
| chr5:128342548
|
A | G | 2 | a0001c0001t0001g0126a0001c0001t0001g0127 | 2 | HG03927.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.3343+1837T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128342548 | ||||||
| chr5:128342595
|
A | G | 1 | a0003c0044t0004g0053 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.3343+1790T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128342595 | ||||||
| chr5:128342601
|
G | A | 1 | a0001c0058t0020g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.3343+1784C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128342601 | ||||||
| chr5:128342731
|
A | AT | 15 | a0003c0006t0004g0042a0003c0006t0004g0044a0003c0006t0004g0046others(12): Show | 15 | HG01074.hp1 HG01258.hp1 HG01346.hp2 others(12): Show |
intron_variant | MODIFIER | c.3343+1653dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128342731 | ||||||
| chr5:128342751
|
G | A | 1 | a0003c0016t0037g0234 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3343+1634C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128342751 | ||||||
| chr5:128342769
|
C | A | 5 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0164others(2): Show | 5 | HG00609.hp2 HG01346.hp1 HG03927.hp1 others(2): Show |
intron_variant | MODIFIER | c.3343+1616G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128342769 | ||||||
| chr5:128342814
|
C | T | 3 | a0001c0008t0028g0113a0001c0035t0009g0036a0002c0038t0004g0035 | 3 | HG02630.hp1 HG03471.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.3343+1571G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128342814 | ||||||
| chr5:128343300
|
A | G | 190 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(187): Show | 190 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(187): Show |
intron_variant | MODIFIER | c.3343+1085T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128343300 | ||||||
| chr5:128343580
|
G | A | 1 | a0002c0002t0005g0086 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.3343+805C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128343580 | ||||||
| chr5:128343959
|
C | T | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.3343+426G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128343959 | ||||||
| chr5:128344119
|
C | T | 2 | a0001c0045t0006g0026a0019c0046t0010g0027 | 2 | HG02559.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.3343+266G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128344119 | ||||||
| chr5:128344193
|
G | C | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.3343+192C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128344193 | ||||||
| chr5:128344200
|
A | G | 2 | a0003c0044t0004g0053a0013c0047t0002g0059 | 2 | HG02055.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.3343+185T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128344200 | ||||||
| chr5:128344350
|
A | T | 11 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(8): Show | 11 | HG00140.hp2 HG00735.hp2 HG00741.hp2 others(8): Show |
intron_variant | MODIFIER | c.3343+35T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 25/64 | chr5 | 128344350 | ||||||
| chr5:128344757
|
A | G | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3218-247T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 24/64 | chr5 | 128344757 | ||||||
| chr5:128344950
|
C | T | 2 | a0003c0044t0004g0053a0013c0047t0002g0059 | 2 | HG02055.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.3217+407G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 24/64 | chr5 | 128344950 | ||||||
| chr5:128345047
|
A | C | 1 | a0002c0015t0010g0025 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.3217+310T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 24/64 | chr5 | 128345047 | ||||||
| chr5:128345126
|
C | T | 189 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(186): Show | 189 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(186): Show |
intron_variant | MODIFIER | c.3217+231G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 24/64 | chr5 | 128345126 | ||||||
| chr5:128345136
|
A | C | 1 | a0003c0010t0005g0094 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3217+221T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 24/64 | chr5 | 128345136 | ||||||
| chr5:128345882
|
G | A | 189 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(186): Show | 189 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(186): Show |
intron_variant | MODIFIER | c.2990-298C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128345882 | ||||||
| chr5:128346346
|
G | C | 1 | a0003c0004t0002g0090 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2990-762C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128346346 | ||||||
| chr5:128346439
|
T | C | 14 | a0003c0006t0004g0042a0003c0006t0004g0044a0003c0006t0004g0045others(11): Show | 14 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(11): Show |
intron_variant | MODIFIER | c.2990-855A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128346439 | ||||||
| chr5:128346492
|
G | A | 9 | a0001c0001t0001g0142a0001c0001t0001g0147a0001c0001t0001g0148others(6): Show | 9 | HG00323.hp1 HG00558.hp2 HG01928.hp1 others(6): Show |
intron_variant | MODIFIER | c.2990-908C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128346492 | ||||||
| chr5:128347225
|
G | A | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.2990-1641C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128347225 | ||||||
| chr5:128347520
|
G | A | 62 | a0001c0001t0001g0175a0001c0001t0003g0013a0001c0001t0003g0014others(59): Show | 62 | HG00099.hp2 HG00323.hp2 HG00735.hp1 others(59): Show |
intron_variant | MODIFIER | c.2989+1827C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128347520 | ||||||
| chr5:128347736
|
G | A | 1 | a0002c0002t0002g0068 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.2989+1611C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128347736 | ||||||
| chr5:128347784
|
CT | C | 178 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(175): Show | 178 | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(175): Show |
intron_variant | MODIFIER | c.2989+1562delA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128347784 | ||||||
| chr5:128347881
|
C | T | 1 | a0001c0008t0025g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2989+1466G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128347881 | ||||||
| chr5:128347903
|
C | T | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.2989+1444G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128347903 | ||||||
| chr5:128347967
|
C | T | 1 | a0002c0023t0038g0235 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2989+1380G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128347967 | ||||||
| chr5:128347968
|
G | A | 1 | a0001c0009t0002g0040 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2989+1379C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128347968 | ||||||
| chr5:128347972
|
A | AG | 64 | a0001c0001t0001g0175a0001c0001t0003g0013a0001c0001t0003g0014others(61): Show | 64 | HG00099.hp2 HG00323.hp2 HG00735.hp1 others(61): Show |
intron_variant | MODIFIER | c.2989+1374dupC | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128347972 | ||||||
| chr5:128347974
|
G | C | 1 | a0020c0043t0019g0018 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.2989+1373C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128347974 | ||||||
| chr5:128348160
|
A | G | 1 | a0001c0021t0003g0010 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2989+1187T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128348160 | ||||||
| chr5:128348165
|
A | G | 1 | a0001c0036t0004g0032 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2989+1182T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128348165 | ||||||
| chr5:128348719
|
A | G | 21 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0144others(18): Show | 21 | HG00140.hp2 HG00323.hp1 HG00558.hp2 others(18): Show |
intron_variant | MODIFIER | c.2989+628T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128348719 | ||||||
| chr5:128348864
|
T | G | 1 | a0004c0005t0002g0069 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.2989+483A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128348864 | ||||||
| chr5:128348943
|
A | G | 1 | a0004c0005t0001g0196 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.2989+404T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128348943 | ||||||
| chr5:128349089
|
T | C | 1 | a0001c0003t0032g0141 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2989+258A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128349089 | ||||||
| chr5:128349240
|
C | T | 1 | a0001c0050t0001g0208 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2989+107G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128349240 | ||||||
| chr5:128349304
|
T | C | 1 | a0003c0004t0002g0103 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.2989+43A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 23/64 | chr5 | 128349304 | ||||||
| chr5:128349530
|
G | A | 1 | a0001c0028t0002g0022 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2864-58C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 22/64 | chr5 | 128349530 | ||||||
| chr5:128349616
|
C | A | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.2864-144G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 22/64 | chr5 | 128349616 | ||||||
| chr5:128349932
|
C | A | 57 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(54): Show | 57 | HG00099.hp2 HG00140.hp2 HG00735.hp1 others(54): Show |
intron_variant | MODIFIER | c.2863+23G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 22/64 | chr5 | 128349932 | ||||||
| chr5:128350042
|
G | T | 2 | a0004c0005t0001g0192a0004c0005t0001g0200 | 2 | HG00099.hp2 HG02109.hp1 |
intron_variant | MODIFIER | c.2813-37C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 21/64 | chr5 | 128350042 | ||||||
| chr5:128350337
|
A | G | 189 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(186): Show | 189 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(186): Show |
intron_variant | MODIFIER | c.2813-332T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 21/64 | chr5 | 128350337 | ||||||
| chr5:128350686
|
T | C | 73 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(70): Show | 73 | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.2812+182A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 21/64 | chr5 | 128350686 | ||||||
| chr5:128350783
|
T | G | 15 | a0001c0001t0005g0087a0001c0003t0005g0100a0001c0003t0006g0060others(12): Show | 15 | HG02559.hp2 HG02572.hp1 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.2812+85A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 21/64 | chr5 | 128350783 | ||||||
| chr5:128350784
|
A | C | 15 | a0001c0001t0005g0087a0001c0003t0005g0100a0001c0003t0006g0060others(12): Show | 15 | HG02559.hp2 HG02572.hp1 HG02630.hp1 others(12): Show |
intron_variant | MODIFIER | c.2812+84T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 21/64 | chr5 | 128350784 | ||||||
| chr5:128350786
|
G | T | 1 | a0001c0003t0001g0178 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.2812+82C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 21/64 | chr5 | 128350786 | ||||||
| chr5:128351065
|
G | A | 1 | a0001c0003t0001g0176 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.2675-60C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128351065 | ||||||
| chr5:128351145
|
G | A | 1 | a0004c0005t0001g0191 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.2675-140C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128351145 | ||||||
| chr5:128351180
|
C | G | 8 | a0002c0002t0001g0125a0002c0002t0001g0210a0002c0002t0001g0211others(5): Show | 8 | HG01975.hp2 HG02083.hp1 HG02155.hp1 others(5): Show |
intron_variant | MODIFIER | c.2675-175G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128351180 | ||||||
| chr5:128351224
|
GA | G | 188 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(185): Show | 188 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(185): Show |
intron_variant | MODIFIER | c.2675-220delT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128351224 | ||||||
| chr5:128351284
|
C | T | 1 | a0003c0004t0033g0128 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2675-279G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128351284 | ||||||
| chr5:128351476
|
G | A | 4 | a0003c0006t0004g0042a0003c0006t0004g0051a0003c0013t0007g0171others(1): Show | 4 | HG01346.hp2 HG01358.hp2 HG03239.hp2 others(1): Show |
intron_variant | MODIFIER | c.2675-471C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128351476 | ||||||
| chr5:128351538
|
A | G | 121 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(118): Show | 121 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(118): Show |
intron_variant | MODIFIER | c.2675-533T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128351538 | ||||||
| chr5:128351543
|
G | A | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.2675-538C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128351543 | ||||||
| chr5:128351577
|
A | G | 1 | a0001c0001t0001g0226 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.2675-572T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128351577 | ||||||
| chr5:128351665
|
C | G | 1 | a0001c0003t0001g0178 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.2675-660G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128351665 | ||||||
| chr5:128351869
|
C | CT | 31 | a0001c0001t0001g0162a0001c0001t0001g0170a0001c0001t0001g0172others(28): Show | 31 | HG00099.hp1 HG00639.hp2 HG01081.hp1 others(28): Show |
intron_variant | MODIFIER | c.2675-865dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128351869 | ||||||
| chr5:128352115
|
C | G | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.2675-1110G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128352115 | ||||||
| chr5:128352124
|
G | A | 2 | a0004c0005t0001g0191a0004c0005t0001g0214 | 2 | NA18951.hp2 NA19056.hp1 |
intron_variant | MODIFIER | c.2675-1119C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128352124 | ||||||
| chr5:128352176
|
TAATATCT others(26): Show |
T | 1 | a0002c0015t0008g0024 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2675-1204_2675-117 others(37): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128352176 | ||||||
| chr5:128352186
|
T | C | 2 | a0002c0015t0010g0025a0002c0034t0004g0038 | 2 | HG02818.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.2675-1181A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128352186 | ||||||
| chr5:128352282
|
AAGAAATA others(1): Show |
A | 3 | a0001c0008t0028g0113a0001c0035t0009g0036a0002c0038t0004g0035 | 3 | HG02630.hp1 HG03471.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.2675-1285_2675-127 others(12): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128352282 | ||||||
| chr5:128352508
|
A | G | 2 | a0003c0044t0004g0053a0013c0047t0002g0059 | 2 | HG02055.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.2675-1503T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128352508 | ||||||
| chr5:128352520
|
T | C | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2675-1515A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128352520 | ||||||
| chr5:128352643
|
T | C | 73 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(70): Show | 73 | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(70): Show |
intron_variant | MODIFIER | c.2675-1638A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128352643 | ||||||
| chr5:128352664
|
A | G | 189 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(186): Show | 189 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(186): Show |
intron_variant | MODIFIER | c.2675-1659T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128352664 | ||||||
| chr5:128352755
|
T | C | 1 | a0001c0003t0001g0181 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.2675-1750A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128352755 | ||||||
| chr5:128353099
|
G | A | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.2675-2094C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128353099 | ||||||
| chr5:128353224
|
C | G | 1 | a0001c0008t0025g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2675-2219G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128353224 | ||||||
| chr5:128353774
|
G | A | 1 | a0001c0003t0001g0178 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.2675-2769C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128353774 | ||||||
| chr5:128354262
|
T | A | 1 | a0001c0001t0001g0127 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.2674+3014A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128354262 | ||||||
| chr5:128354396
|
G | A | 1 | a0001c0054t0001g0194 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.2674+2880C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128354396 | ||||||
| chr5:128354676
|
G | A | 41 | a0001c0001t0001g0162a0001c0001t0001g0170a0001c0001t0001g0172others(38): Show | 41 | HG00099.hp1 HG00639.hp2 HG01106.hp2 others(38): Show |
intron_variant | MODIFIER | c.2674+2600C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128354676 | ||||||
| chr5:128354967
|
G | C | 1 | a0001c0001t0001g0231 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.2674+2309C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128354967 | ||||||
| chr5:128355057
|
G | A | 1 | a0020c0043t0019g0018 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.2674+2219C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128355057 | ||||||
| chr5:128355190
|
C | G | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.2674+2086G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128355190 | ||||||
| chr5:128355209
|
T | C | 7 | a0001c0036t0004g0032a0002c0002t0005g0086a0002c0023t0007g0121others(4): Show | 7 | HG00639.hp1 HG01884.hp2 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.2674+2067A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128355209 | ||||||
| chr5:128355377
|
C | T | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2674+1899G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128355377 | ||||||
| chr5:128355447
|
A | G | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.2674+1829T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128355447 | ||||||
| chr5:128355492
|
A | C | 1 | a0001c0001t0002g0079 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.2674+1784T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128355492 | ||||||
| chr5:128355541
|
A | G | 76 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0162others(73): Show | 76 | HG00323.hp2 HG00558.hp1 HG00609.hp1 others(73): Show |
intron_variant | MODIFIER | c.2674+1735T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128355541 | ||||||
| chr5:128355580
|
G | A | 20 | a0001c0008t0028g0113a0001c0035t0009g0036a0002c0015t0008g0024others(17): Show | 20 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(17): Show |
intron_variant | MODIFIER | c.2674+1696C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128355580 | ||||||
| chr5:128355728
|
T | C | 1 | a0001c0009t0002g0040 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2674+1548A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128355728 | ||||||
| chr5:128355854
|
T | C | 62 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(59): Show | 62 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(59): Show |
intron_variant | MODIFIER | c.2674+1422A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128355854 | ||||||
| chr5:128355883
|
T | G | 1 | a0001c0011t0022g0061 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2674+1393A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128355883 | ||||||
| chr5:128355932
|
A | G | 1 | a0001c0050t0001g0208 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2674+1344T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128355932 | ||||||
| chr5:128356261
|
C | T | 1 | a0001c0008t0025g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2674+1015G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128356261 | ||||||
| chr5:128356304
|
T | C | 2 | a0002c0032t0009g0039a0002c0041t0011g0029 | 2 | HG02109.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.2674+972A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128356304 | ||||||
| chr5:128356402
|
C | T | 68 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0162others(65): Show | 68 | HG00323.hp2 HG00558.hp1 HG00609.hp1 others(65): Show |
intron_variant | MODIFIER | c.2674+874G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128356402 | ||||||
| chr5:128357129
|
T | C | 84 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(81): Show | 84 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(81): Show |
intron_variant | MODIFIER | c.2674+147A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128357129 | ||||||
| chr5:128357130
|
A | G | 13 | a0001c0001t0003g0011a0003c0004t0001g0155a0003c0004t0001g0160others(10): Show | 13 | HG00741.hp1 HG01081.hp1 HG03017.hp2 others(10): Show |
intron_variant | MODIFIER | c.2674+146T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128357130 | ||||||
| chr5:128357141
|
G | T | 6 | a0001c0008t0028g0113a0001c0035t0009g0036a0002c0015t0008g0024others(3): Show | 6 | HG02630.hp1 HG02818.hp2 HG03471.hp1 others(3): Show |
intron_variant | MODIFIER | c.2674+135C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 20/64 | chr5 | 128357141 | ||||||
| chr5:128357579
|
A | C | 3 | a0012c0026t0002g0107a0012c0026t0002g0108a0024c0068t0002g0106 | 3 | HG01516.hp2 HG02257.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.2555-184T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128357579 | ||||||
| chr5:128357682
|
T | A | 20 | a0001c0008t0028g0113a0001c0035t0009g0036a0002c0015t0008g0024others(17): Show | 20 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(17): Show |
intron_variant | MODIFIER | c.2555-287A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128357682 | ||||||
| chr5:128357833
|
T | G | 76 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(73): Show | 76 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(73): Show |
intron_variant | MODIFIER | c.2555-438A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128357833 | ||||||
| chr5:128357835
|
G | T | 3 | a0001c0008t0028g0113a0001c0035t0009g0036a0002c0038t0004g0035 | 3 | HG02630.hp1 HG03471.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.2555-440C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128357835 | ||||||
| chr5:128358153
|
G | A | 1 | a0002c0002t0001g0215 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.2555-758C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128358153 | ||||||
| chr5:128358158
|
T | G | 1 | a0001c0001t0002g0082 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.2555-763A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128358158 | ||||||
| chr5:128358167
|
T | G | 1 | a0001c0001t0001g0188 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.2555-772A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128358167 | ||||||
| chr5:128358304
|
C | T | 10 | a0001c0001t0001g0142a0001c0001t0001g0147a0001c0001t0001g0148others(7): Show | 10 | HG00323.hp1 HG00558.hp2 HG01928.hp1 others(7): Show |
intron_variant | MODIFIER | c.2555-909G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128358304 | ||||||
| chr5:128358643
|
T | C | 1 | a0021c0067t0004g0098 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2555-1248A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128358643 | ||||||
| chr5:128358743
|
A | C | 68 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(65): Show | 68 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(65): Show |
intron_variant | MODIFIER | c.2555-1348T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128358743 | ||||||
| chr5:128358763
|
G | A | 94 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0162others(91): Show | 94 | HG00323.hp2 HG00558.hp1 HG00609.hp2 others(91): Show |
intron_variant | MODIFIER | c.2555-1368C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128358763 | ||||||
| chr5:128358796
|
T | C | 1 | a0003c0013t0007g0203 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.2555-1401A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128358796 | ||||||
| chr5:128358823
|
T | C | 1 | a0001c0014t0014g0112 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2555-1428A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128358823 | ||||||
| chr5:128358914
|
T | C | 1 | a0001c0008t0029g0117 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2555-1519A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128358914 | ||||||
| chr5:128358965
|
T | C | 1 | a0004c0005t0001g0232 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2555-1570A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128358965 | ||||||
| chr5:128359112
|
G | T | 68 | a0001c0001t0001g0175a0001c0001t0003g0013a0001c0001t0003g0014others(65): Show | 68 | HG00099.hp2 HG00609.hp1 HG00735.hp1 others(65): Show |
intron_variant | MODIFIER | c.2555-1717C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128359112 | ||||||
| chr5:128359195
|
C | T | 16 | a0003c0006t0004g0042a0003c0006t0004g0044a0003c0006t0004g0045others(13): Show | 16 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(13): Show |
intron_variant | MODIFIER | c.2555-1800G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128359195 | ||||||
| chr5:128359371
|
C | T | 1 | a0002c0032t0009g0039 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2555-1976G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128359371 | ||||||
| chr5:128359416
|
G | A | 1 | a0003c0004t0002g0088 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2555-2021C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128359416 | ||||||
| chr5:128359822
|
G | A | 1 | a0004c0005t0001g0196 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.2554+1901C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128359822 | ||||||
| chr5:128359823
|
T | C | 1 | a0004c0005t0001g0196 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.2554+1900A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128359823 | ||||||
| chr5:128359824
|
G | T | 1 | a0004c0005t0001g0196 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.2554+1899C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128359824 | ||||||
| chr5:128359828
|
C | A | 1 | a0004c0005t0001g0196 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.2554+1895G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128359828 | ||||||
| chr5:128359831
|
T | G | 1 | a0004c0005t0001g0196 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.2554+1892A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128359831 | ||||||
| chr5:128359832
|
G | C | 1 | a0004c0005t0001g0196 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.2554+1891C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128359832 | ||||||
| chr5:128359833
|
A | G | 1 | a0004c0005t0001g0196 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.2554+1890T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128359833 | ||||||
| chr5:128359835
|
T | G | 1 | a0004c0005t0001g0196 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.2554+1888A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128359835 | ||||||
| chr5:128359876
|
C | CTA | 191 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(188): Show | 191 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(188): Show |
intron_variant | MODIFIER | c.2554+1846_2554+184 others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128359876 | ||||||
| chr5:128359988
|
T | C | 1 | a0002c0059t0005g0092 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2554+1735A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128359988 | ||||||
| chr5:128360173
|
A | G | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.2554+1550T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128360173 | ||||||
| chr5:128360290
|
G | T | 1 | a0001c0001t0001g0158 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.2554+1433C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128360290 | ||||||
| chr5:128360329
|
A | C | 68 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(65): Show | 68 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(65): Show |
intron_variant | MODIFIER | c.2554+1394T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128360329 | ||||||
| chr5:128360607
|
GA | G | 4 | a0001c0003t0005g0100a0001c0003t0006g0060a0001c0009t0006g0028others(1): Show | 4 | HG02717.hp2 HG03041.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.2554+1115delT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128360607 | ||||||
| chr5:128360839
|
A | T | 1 | a0002c0002t0005g0086 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.2554+884T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128360839 | ||||||
| chr5:128360911
|
T | C | 1 | a0003c0004t0003g0001 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.2554+812A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128360911 | ||||||
| chr5:128360984
|
T | A | 1 | a0004c0005t0001g0196 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.2554+739A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128360984 | ||||||
| chr5:128361216
|
G | A | 1 | a0002c0034t0004g0038 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2554+507C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128361216 | ||||||
| chr5:128361258
|
A | G | 3 | a0001c0003t0006g0060a0001c0009t0006g0028a0001c0009t0006g0030 | 3 | HG02717.hp2 HG03041.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.2554+465T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128361258 | ||||||
| chr5:128361353
|
G | A | 2 | a0002c0032t0009g0039a0002c0041t0011g0029 | 2 | HG02109.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.2554+370C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128361353 | ||||||
| chr5:128361357
|
C | G | 1 | a0002c0037t0023g0034 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2554+366G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128361357 | ||||||
| chr5:128361384
|
G | A | 1 | a0001c0003t0032g0141 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2554+339C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128361384 | ||||||
| chr5:128361588
|
AT | A | 18 | a0001c0054t0001g0194a0004c0005t0001g0191a0004c0005t0001g0192others(15): Show | 18 | HG00099.hp2 HG01361.hp1 HG01516.hp2 others(15): Show |
intron_variant | MODIFIER | c.2554+134delA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 19/64 | chr5 | 128361588 | ||||||
| chr5:128361896
|
A | G | 11 | a0001c0001t0003g0011a0003c0004t0001g0155a0003c0004t0002g0090others(8): Show | 11 | HG00741.hp1 HG01081.hp1 HG03017.hp2 others(8): Show |
intron_variant | MODIFIER | c.2429-48T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 18/64 | chr5 | 128361896 | ||||||
| chr5:128362519
|
G | C | 1 | a0001c0001t0001g0145 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.2429-671C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 18/64 | chr5 | 128362519 | ||||||
| chr5:128362523
|
C | A | 49 | a0001c0001t0001g0172a0001c0001t0001g0175a0001c0001t0001g0184others(46): Show | 49 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(46): Show |
intron_variant | MODIFIER | c.2429-675G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 18/64 | chr5 | 128362523 | ||||||
| chr5:128362523
|
C | T | 1 | a0001c0028t0002g0022 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2429-675G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 18/64 | chr5 | 128362523 | ||||||
| chr5:128362581
|
C | T | 1 | a0022c0066t0021g0101 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2429-733G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 18/64 | chr5 | 128362581 | ||||||
| chr5:128362619
|
C | T | 73 | a0001c0001t0001g0172a0001c0001t0001g0175a0001c0001t0001g0184others(70): Show | 73 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(70): Show |
intron_variant | MODIFIER | c.2429-771G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 18/64 | chr5 | 128362619 | ||||||
| chr5:128362840
|
G | C | 2 | a0008c0042t0012g0054a0008c0063t0012g0096 | 2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.2429-992C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 18/64 | chr5 | 128362840 | ||||||
| chr5:128362895
|
T | C | 6 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0164others(3): Show | 6 | HG00323.hp2 HG00609.hp2 HG01346.hp1 others(3): Show |
intron_variant | MODIFIER | c.2429-1047A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 18/64 | chr5 | 128362895 | ||||||
| chr5:128362964
|
A | T | 1 | a0024c0068t0002g0106 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2429-1116T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 18/64 | chr5 | 128362964 | ||||||
| chr5:128363131
|
G | A | 1 | a0001c0048t0001g0120 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.2429-1283C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 18/64 | chr5 | 128363131 | ||||||
| chr5:128363135
|
C | T | 77 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0162others(74): Show | 77 | HG00323.hp2 HG00558.hp1 HG00609.hp2 others(74): Show |
intron_variant | MODIFIER | c.2429-1287G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 18/64 | chr5 | 128363135 | ||||||
| chr5:128363260
|
C | T | 2 | a0001c0001t0001g0142a0001c0001t0001g0156 | 2 | HG01928.hp1 HG01981.hp1 |
intron_variant | MODIFIER | c.2428+1340G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 18/64 | chr5 | 128363260 | ||||||
| chr5:128363390
|
A | G | 1 | a0001c0003t0001g0182 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2428+1210T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 18/64 | chr5 | 128363390 | ||||||
| chr5:128363670
|
C | T | 12 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(9): Show | 12 | HG00140.hp2 HG00639.hp2 HG00735.hp2 others(9): Show |
intron_variant | MODIFIER | c.2428+930G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 18/64 | chr5 | 128363670 | ||||||
| chr5:128363682
|
G | A | 200 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(197): Show | 200 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(197): Show |
intron_variant | MODIFIER | c.2428+918C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 18/64 | chr5 | 128363682 | ||||||
| chr5:128363716
|
T | C | 3 | a0001c0008t0028g0113a0001c0035t0009g0036a0002c0038t0004g0035 | 3 | HG02630.hp1 HG03471.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.2428+884A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 18/64 | chr5 | 128363716 | ||||||
| chr5:128363801
|
T | C | 1 | a0003c0006t0004g0047 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.2428+799A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 18/64 | chr5 | 128363801 | ||||||
| chr5:128364491
|
G | T | 2 | a0001c0045t0006g0026a0019c0046t0010g0027 | 2 | HG02559.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.2428+109C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 18/64 | chr5 | 128364491 | ||||||
| chr5:128364537
|
T | G | 1 | a0002c0015t0010g0025 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.2428+63A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 18/64 | chr5 | 128364537 | ||||||
| chr5:128364594
|
A | T | 1 | a0001c0003t0005g0100 | 1 | HG03139.hp1 | splice_region_variant&intron_variant | LOW | c.2428+6T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 18/64 | chr5 | 128364594 | ||||||
| chr5:128364835
|
C | T | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2303-110G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 17/64 | chr5 | 128364835 | ||||||
| chr5:128364976
|
C | A | 2 | a0002c0015t0008g0024a0003c0004t0002g0103 | 2 | HG02970.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.2303-251G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 17/64 | chr5 | 128364976 | ||||||
| chr5:128365001
|
C | A | 111 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0144others(108): Show | 111 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.2303-276G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 17/64 | chr5 | 128365001 | ||||||
| chr5:128365009
|
A | G | 2 | a0002c0032t0009g0039a0002c0041t0011g0029 | 2 | HG02109.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.2303-284T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 17/64 | chr5 | 128365009 | ||||||
| chr5:128365360
|
T | C | 1 | a0001c0003t0005g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.2303-635A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 17/64 | chr5 | 128365360 | ||||||
| chr5:128365507
|
C | T | 1 | a0003c0004t0001g0155 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.2303-782G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 17/64 | chr5 | 128365507 | ||||||
| chr5:128365737
|
G | A | 1 | a0001c0003t0001g0140 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.2302+640C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 17/64 | chr5 | 128365737 | ||||||
| chr5:128365751
|
T | C | 2 | a0008c0042t0012g0054a0008c0063t0012g0096 | 2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.2302+626A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 17/64 | chr5 | 128365751 | ||||||
| chr5:128366117
|
A | C | 111 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0144others(108): Show | 111 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(108): Show |
intron_variant | MODIFIER | c.2302+260T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 17/64 | chr5 | 128366117 | ||||||
| chr5:128366134
|
AGTTT | A | 10 | a0001c0001t0001g0142a0001c0001t0001g0147a0001c0001t0001g0148others(7): Show | 10 | HG00323.hp1 HG00558.hp2 HG01928.hp1 others(7): Show |
intron_variant | MODIFIER | c.2302+239_2302+242d others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 17/64 | chr5 | 128366134 | ||||||
| chr5:128366251
|
ATAAT | A | 77 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0162others(74): Show | 77 | HG00323.hp2 HG00558.hp1 HG00609.hp2 others(74): Show |
intron_variant | MODIFIER | c.2302+122_2302+125d others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 17/64 | chr5 | 128366251 | ||||||
| chr5:128366625
|
A | G | 2 | a0002c0032t0009g0039a0002c0041t0011g0029 | 2 | HG02109.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.2249-195T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128366625 | ||||||
| chr5:128366924
|
C | A | 2 | a0002c0032t0009g0039a0002c0041t0011g0029 | 2 | HG02109.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.2249-494G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128366924 | ||||||
| chr5:128367443
|
T | C | 71 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0162others(68): Show | 71 | HG00323.hp2 HG00558.hp1 HG00609.hp2 others(68): Show |
intron_variant | MODIFIER | c.2249-1013A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128367443 | ||||||
| chr5:128367603
|
G | T | 38 | a0001c0003t0005g0100a0001c0003t0006g0060a0001c0009t0002g0040others(35): Show | 38 | HG00639.hp1 HG01074.hp1 HG01256.hp2 others(35): Show |
intron_variant | MODIFIER | c.2249-1173C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128367603 | ||||||
| chr5:128367869
|
C | CT | 66 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0162others(63): Show | 66 | HG00323.hp2 HG00558.hp1 HG00609.hp2 others(63): Show |
intron_variant | MODIFIER | c.2248+1312dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128367869 | ||||||
| chr5:128367879
|
T | A | 8 | a0001c0033t0005g0037a0001c0036t0004g0032a0002c0002t0005g0086others(5): Show | 8 | HG00639.hp1 HG01884.hp2 HG02257.hp2 others(5): Show |
intron_variant | MODIFIER | c.2248+1303A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128367879 | ||||||
| chr5:128367930
|
C | T | 2 | a0002c0029t0027g0118a0022c0066t0021g0101 | 2 | HG02257.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2248+1252G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128367930 | ||||||
| chr5:128367958
|
T | A | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2248+1224A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128367958 | ||||||
| chr5:128368406
|
A | ATG | 2 | a0001c0001t0002g0079a0002c0002t0001g0221 | 2 | HG02523.hp2 NA18962.hp2 |
intron_variant | MODIFIER | c.2248+774_2248+775d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368406 | ||||||
| chr5:128368416
|
G | GTGTGTAT others(5): Show |
4 | a0003c0006t0004g0042a0003c0006t0004g0051a0003c0013t0007g0171others(1): Show | 4 | HG01346.hp2 HG01358.hp2 HG03239.hp2 others(1): Show |
intron_variant | MODIFIER | c.2248+754_2248+765d others(14): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368416 | ||||||
| chr5:128368420
|
G | GTA | 62 | a0001c0001t0001g0127a0001c0001t0001g0164a0001c0001t0001g0227others(59): Show | 62 | HG00323.hp2 HG00558.hp1 HG01074.hp2 others(59): Show |
intron_variant | MODIFIER | c.2248+760_2248+761d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368420 | ||||||
| chr5:128368420
|
G | GTATATA | 3 | a0001c0001t0005g0087a0001c0008t0006g0023a0002c0039t0005g0031 | 3 | HG03139.hp2 HG03516.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2248+756_2248+761d others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368420 | ||||||
| chr5:128368422
|
A | G | 9 | a0001c0054t0001g0194a0004c0005t0001g0195a0004c0005t0001g0196others(6): Show | 9 | NA18949.hp1 NA18956.hp2 NA18967.hp2 others(6): Show |
intron_variant | MODIFIER | c.2248+760T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368422 | ||||||
| chr5:128368425
|
T | TATATATA others(25): Show |
13 | a0001c0001t0003g0011a0003c0004t0001g0155a0003c0004t0002g0090others(10): Show | 13 | HG00741.hp1 HG01081.hp1 HG02818.hp1 others(10): Show |
intron_variant | MODIFIER | c.2248+756_2248+757i others(34): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368425 | ||||||
| chr5:128368428
|
A | ATG | 13 | a0001c0009t0002g0040a0003c0006t0004g0044a0003c0006t0004g0045others(10): Show | 13 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(10): Show |
intron_variant | MODIFIER | c.2248+753_2248+754i others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368428 | ||||||
| chr5:128368430
|
A | G | 38 | a0001c0003t0005g0100a0001c0003t0006g0060a0001c0009t0002g0040others(35): Show | 38 | HG00639.hp1 HG01074.hp1 HG01256.hp2 others(35): Show |
intron_variant | MODIFIER | c.2248+752T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368430 | ||||||
| chr5:128368431
|
TATACAC | T | 5 | a0001c0001t0001g0126a0001c0001t0001g0162a0001c0001t0001g0226others(2): Show | 5 | HG00609.hp2 NA18964.hp1 NA18986.hp1 others(2): Show |
intron_variant | MODIFIER | c.2248+745_2248+750d others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368431 | ||||||
| chr5:128368435
|
C | T | 174 | a0001c0001t0001g0127a0001c0001t0001g0143a0001c0001t0001g0144others(171): Show | 174 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(171): Show |
intron_variant | MODIFIER | c.2248+747G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368435 | ||||||
| chr5:128368437
|
C | T | 26 | a0001c0001t0003g0011a0001c0009t0002g0040a0003c0004t0001g0155others(23): Show | 26 | HG00741.hp1 HG01074.hp1 HG01081.hp1 others(23): Show |
intron_variant | MODIFIER | c.2248+745G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368437 | ||||||
| chr5:128368440
|
A | G | 13 | a0001c0009t0002g0040a0003c0006t0004g0044a0003c0006t0004g0045others(10): Show | 13 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(10): Show |
intron_variant | MODIFIER | c.2248+742T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368440 | ||||||
| chr5:128368445
|
C | T | 13 | a0001c0009t0002g0040a0003c0006t0004g0044a0003c0006t0004g0045others(10): Show | 13 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(10): Show |
intron_variant | MODIFIER | c.2248+737G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368445 | ||||||
| chr5:128368445
|
CAT | C | 5 | a0001c0001t0001g0126a0001c0001t0001g0162a0001c0001t0001g0226others(2): Show | 5 | HG00609.hp2 NA18964.hp1 NA18986.hp1 others(2): Show |
intron_variant | MODIFIER | c.2248+735_2248+736d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368445 | ||||||
| chr5:128368447
|
T | C | 13 | a0001c0009t0002g0040a0003c0006t0004g0044a0003c0006t0004g0045others(10): Show | 13 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(10): Show |
intron_variant | MODIFIER | c.2248+735A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368447 | ||||||
| chr5:128368455
|
CACATATA others(3): Show |
C | 21 | a0001c0003t0005g0100a0001c0003t0006g0060a0001c0009t0006g0028others(18): Show | 21 | HG00639.hp1 HG01884.hp2 HG02055.hp2 others(18): Show |
intron_variant | MODIFIER | c.2248+717_2248+726d others(12): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368455 | ||||||
| chr5:128368457
|
C | T | 18 | a0001c0001t0001g0126a0001c0001t0001g0162a0001c0001t0001g0226others(15): Show | 18 | HG00609.hp2 HG01074.hp1 HG01256.hp2 others(15): Show |
intron_variant | MODIFIER | c.2248+725G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368457 | ||||||
| chr5:128368465
|
T | C | 19 | a0001c0001t0001g0126a0001c0001t0001g0162a0001c0001t0001g0226others(16): Show | 19 | HG00609.hp2 HG01074.hp1 HG01256.hp2 others(16): Show |
intron_variant | MODIFIER | c.2248+717A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368465 | ||||||
| chr5:128368465
|
T | TACATATA others(5): Show |
63 | a0001c0001t0001g0127a0001c0001t0001g0227a0001c0001t0001g0229others(60): Show | 63 | HG00323.hp2 HG00558.hp1 HG01074.hp2 others(60): Show |
intron_variant | MODIFIER | c.2248+705_2248+716d others(14): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368465 | ||||||
| chr5:128368465
|
T | TACATATA others(27): Show |
6 | a0001c0001t0001g0164a0001c0001t0002g0073a0001c0001t0002g0079others(3): Show | 6 | HG01346.hp1 NA18951.hp1 NA18962.hp2 others(3): Show |
intron_variant | MODIFIER | c.2248+716_2248+717i others(36): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368465 | ||||||
| chr5:128368556
|
T | C | 11 | a0001c0001t0003g0011a0003c0004t0001g0155a0003c0004t0002g0090others(8): Show | 11 | HG00741.hp1 HG01081.hp1 HG03017.hp2 others(8): Show |
intron_variant | MODIFIER | c.2248+626A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368556 | ||||||
| chr5:128368640
|
T | A | 1 | a0003c0016t0037g0234 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2248+542A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368640 | ||||||
| chr5:128368647
|
C | T | 1 | a0004c0005t0001g0205 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.2248+535G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368647 | ||||||
| chr5:128368709
|
A | G | 67 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(64): Show | 67 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(64): Show |
intron_variant | MODIFIER | c.2248+473T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368709 | ||||||
| chr5:128368729
|
GCA | G | 13 | a0001c0001t0003g0011a0003c0004t0001g0155a0003c0004t0002g0090others(10): Show | 13 | HG00741.hp1 HG01081.hp1 HG02818.hp1 others(10): Show |
intron_variant | MODIFIER | c.2248+451_2248+452d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368729 | ||||||
| chr5:128368745
|
C | G | 1 | a0001c0003t0005g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.2248+437G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368745 | ||||||
| chr5:128368814
|
G | A | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.2248+368C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368814 | ||||||
| chr5:128368837
|
A | C | 1 | a0003c0044t0004g0053 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2248+345T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368837 | ||||||
| chr5:128368843
|
A | AT | 31 | a0001c0001t0002g0076a0001c0003t0005g0100a0001c0003t0006g0060others(28): Show | 31 | HG00639.hp1 HG01884.hp2 HG02055.hp2 others(28): Show |
intron_variant | MODIFIER | c.2248+338dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368843 | ||||||
| chr5:128368843
|
A | ATT | 17 | a0001c0009t0002g0040a0003c0006t0004g0042a0003c0006t0004g0044others(14): Show | 17 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(14): Show |
intron_variant | MODIFIER | c.2248+337_2248+338d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368843 | ||||||
| chr5:128368871
|
G | A | 1 | a0001c0001t0030g0119 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.2248+311C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368871 | ||||||
| chr5:128368899
|
T | C | 2 | a0008c0042t0012g0054a0008c0063t0012g0096 | 2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.2248+283A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 16/64 | chr5 | 128368899 | ||||||
| chr5:128369558
|
T | C | 80 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(77): Show | 80 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(77): Show |
intron_variant | MODIFIER | c.2096-224A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128369558 | ||||||
| chr5:128369559
|
A | T | 1 | a0003c0044t0004g0053 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2096-225T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128369559 | ||||||
| chr5:128369590
|
C | T | 2 | a0002c0032t0009g0039a0002c0041t0011g0029 | 2 | HG02109.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.2096-256G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128369590 | ||||||
| chr5:128369640
|
T | G | 2 | a0002c0032t0009g0039a0002c0041t0011g0029 | 2 | HG02109.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.2096-306A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128369640 | ||||||
| chr5:128369672
|
T | C | 1 | a0003c0007t0006g0058 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2096-338A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128369672 | ||||||
| chr5:128369788
|
C | T | 3 | a0003c0010t0002g0099a0003c0010t0024g0097a0021c0067t0004g0098 | 3 | HG02258.hp2 HG02572.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.2096-454G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128369788 | ||||||
| chr5:128369798
|
G | A | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2096-464C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128369798 | ||||||
| chr5:128369846
|
T | G | 1 | a0003c0004t0002g0064 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2096-512A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128369846 | ||||||
| chr5:128370353
|
C | T | 193 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0143others(190): Show | 193 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(190): Show |
intron_variant | MODIFIER | c.2096-1019G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128370353 | ||||||
| chr5:128370468
|
G | A | 4 | a0001c0003t0005g0100a0001c0003t0006g0060a0001c0009t0006g0028others(1): Show | 4 | HG02717.hp2 HG03041.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.2096-1134C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128370468 | ||||||
| chr5:128370529
|
TG | T | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.2096-1196delC | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128370529 | ||||||
| chr5:128370660
|
A | T | 10 | a0001c0003t0005g0100a0001c0003t0006g0060a0001c0009t0006g0028others(7): Show | 10 | HG02559.hp2 HG02572.hp1 HG02647.hp2 others(7): Show |
intron_variant | MODIFIER | c.2096-1326T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128370660 | ||||||
| chr5:128371019
|
C | T | 2 | a0008c0042t0012g0054a0008c0063t0012g0096 | 2 | HG02922.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.2096-1685G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128371019 | ||||||
| chr5:128371113
|
G | C | 2 | a0001c0008t0025g0115a0013c0047t0002g0059 | 2 | HG03209.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2096-1779C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128371113 | ||||||
| chr5:128371374
|
T | C | 1 | a0002c0002t0001g0211 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.2096-2040A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128371374 | ||||||
| chr5:128371382
|
A | G | 55 | a0001c0001t0001g0172a0001c0001t0001g0175a0001c0001t0001g0184others(52): Show | 55 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(52): Show |
intron_variant | MODIFIER | c.2096-2048T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128371382 | ||||||
| chr5:128371452
|
T | TTTTCTTT others(6): Show |
1 | a0027c0027t0008g0020 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2096-2119_2096-211 others(17): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128371452 | ||||||
| chr5:128371456
|
CTCCT | C | 44 | a0001c0001t0001g0145a0001c0001t0030g0119a0001c0003t0005g0100others(41): Show | 44 | HG00639.hp1 HG01074.hp1 HG01106.hp1 others(41): Show |
intron_variant | MODIFIER | c.2096-2126_2096-212 others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128371456 | ||||||
| chr5:128371459
|
C | T | 1 | a0027c0027t0008g0020 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2096-2125G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128371459 | ||||||
| chr5:128371474
|
C | T | 12 | a0001c0001t0003g0011a0003c0004t0001g0155a0003c0004t0002g0090others(9): Show | 12 | HG00741.hp1 HG01081.hp1 HG02965.hp2 others(9): Show |
intron_variant | MODIFIER | c.2096-2140G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128371474 | ||||||
| chr5:128371476
|
T | C | 12 | a0001c0001t0003g0011a0003c0004t0001g0155a0003c0004t0002g0090others(9): Show | 12 | HG00741.hp1 HG01081.hp1 HG02965.hp2 others(9): Show |
intron_variant | MODIFIER | c.2096-2142A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128371476 | ||||||
| chr5:128371483
|
C | T | 12 | a0001c0001t0003g0011a0003c0004t0001g0155a0003c0004t0002g0090others(9): Show | 12 | HG00741.hp1 HG01081.hp1 HG02965.hp2 others(9): Show |
intron_variant | MODIFIER | c.2096-2149G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128371483 | ||||||
| chr5:128371487
|
T | C | 12 | a0001c0001t0003g0011a0003c0004t0001g0155a0003c0004t0002g0090others(9): Show | 12 | HG00741.hp1 HG01081.hp1 HG02965.hp2 others(9): Show |
intron_variant | MODIFIER | c.2096-2153A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128371487 | ||||||
| chr5:128371489
|
T | C | 12 | a0001c0001t0003g0011a0003c0004t0001g0155a0003c0004t0002g0090others(9): Show | 12 | HG00741.hp1 HG01081.hp1 HG02965.hp2 others(9): Show |
intron_variant | MODIFIER | c.2096-2155A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128371489 | ||||||
| chr5:128371509
|
A | ATCCT | 22 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0144others(19): Show | 22 | HG00140.hp2 HG00558.hp2 HG00639.hp2 others(19): Show |
intron_variant | MODIFIER | c.2096-2179_2096-217 others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128371509 | ||||||
| chr5:128371509
|
A | ATCCTTCC others(1): Show |
2 | a0001c0001t0001g0147a0001c0001t0001g0148 | 2 | HG00323.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.2096-2183_2096-217 others(12): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128371509 | ||||||
| chr5:128371509
|
A | C | 41 | a0001c0003t0005g0100a0001c0003t0006g0060a0001c0008t0025g0115others(38): Show | 41 | HG00639.hp1 HG01074.hp1 HG01256.hp2 others(38): Show |
intron_variant | MODIFIER | c.2096-2175T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128371509 | ||||||
| chr5:128371509
|
ATCCT | A | 2 | a0003c0012t0001g0187a0013c0047t0002g0059 | 2 | HG01192.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.2096-2179_2096-217 others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128371509 | ||||||
| chr5:128371513
|
T | A | 41 | a0001c0003t0005g0100a0001c0003t0006g0060a0001c0008t0025g0115others(38): Show | 41 | HG00639.hp1 HG01074.hp1 HG01256.hp2 others(38): Show |
intron_variant | MODIFIER | c.2096-2179A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128371513 | ||||||
| chr5:128371567
|
C | T | 1 | a0011c0018t0003g0016 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.2096-2233G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128371567 | ||||||
| chr5:128371590
|
G | A | 1 | a0001c0001t0013g0110 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.2096-2256C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128371590 | ||||||
| chr5:128371643
|
C | A | 1 | a0003c0004t0002g0090 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2096-2309G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128371643 | ||||||
| chr5:128372389
|
C | A | 1 | a0004c0005t0001g0205 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.2095+2239G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128372389 | ||||||
| chr5:128372411
|
C | T | 2 | a0001c0033t0005g0037a0002c0055t0008g0093 | 2 | NA18522.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.2095+2217G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128372411 | ||||||
| chr5:128372618
|
A | C | 1 | a0002c0002t0001g0218 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.2095+2010T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128372618 | ||||||
| chr5:128373296
|
A | G | 1 | a0001c0001t0001g0184 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.2095+1332T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128373296 | ||||||
| chr5:128373325
|
G | A | 11 | a0001c0033t0005g0037a0001c0036t0004g0032a0002c0002t0005g0086others(8): Show | 11 | HG00639.hp1 HG01884.hp2 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.2095+1303C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128373325 | ||||||
| chr5:128373800
|
T | C | 10 | a0001c0003t0005g0100a0001c0003t0006g0060a0001c0009t0006g0028others(7): Show | 10 | HG02559.hp2 HG02572.hp1 HG02647.hp2 others(7): Show |
intron_variant | MODIFIER | c.2095+828A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128373800 | ||||||
| chr5:128374122
|
T | C | 1 | a0001c0008t0025g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2095+506A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128374122 | ||||||
| chr5:128374409
|
C | T | 2 | a0002c0015t0008g0024a0003c0004t0002g0103 | 2 | HG02970.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.2095+219G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128374409 | ||||||
| chr5:128374524
|
G | A | 1 | a0001c0009t0006g0030 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2095+104C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 15/64 | chr5 | 128374524 | ||||||
| chr5:128374907
|
T | C | 3 | a0001c0001t0005g0087a0001c0008t0006g0023a0002c0039t0005g0031 | 3 | HG03139.hp2 HG03516.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1973-157A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 14/64 | chr5 | 128374907 | ||||||
| chr5:128375084
|
C | A | 1 | a0002c0059t0005g0092 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.1973-334G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 14/64 | chr5 | 128375084 | ||||||
| chr5:128375180
|
C | T | 2 | a0001c0001t0005g0087a0001c0008t0006g0023 | 2 | HG03139.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.1973-430G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 14/64 | chr5 | 128375180 | ||||||
| chr5:128375184
|
T | A | 1 | a0003c0007t0006g0058 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1973-434A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 14/64 | chr5 | 128375184 | ||||||
| chr5:128375198
|
C | T | 1 | a0004c0005t0001g0205 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.1973-448G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 14/64 | chr5 | 128375198 | ||||||
| chr5:128375594
|
C | T | 181 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0162others(178): Show | 181 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(178): Show |
intron_variant | MODIFIER | c.1973-844G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 14/64 | chr5 | 128375594 | ||||||
| chr5:128375634
|
T | C | 2 | a0004c0005t0001g0195a0004c0005t0001g0196 | 2 | NA18967.hp2 NA18998.hp1 |
intron_variant | MODIFIER | c.1973-884A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 14/64 | chr5 | 128375634 | ||||||
| chr5:128375858
|
A | G | 1 | a0003c0044t0004g0053 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1972+873T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 14/64 | chr5 | 128375858 | ||||||
| chr5:128375932
|
G | A | 8 | a0001c0033t0005g0037a0001c0036t0004g0032a0002c0002t0005g0086others(5): Show | 8 | HG00639.hp1 HG01884.hp2 HG02257.hp2 others(5): Show |
intron_variant | MODIFIER | c.1972+799C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 14/64 | chr5 | 128375932 | ||||||
| chr5:128376363
|
T | C | 40 | a0001c0003t0005g0100a0001c0003t0006g0060a0001c0008t0025g0115others(37): Show | 40 | HG00639.hp1 HG01074.hp1 HG01256.hp2 others(37): Show |
intron_variant | MODIFIER | c.1972+368A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 14/64 | chr5 | 128376363 | ||||||
| chr5:128376419
|
T | A | 1 | a0001c0003t0005g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1972+312A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 14/64 | chr5 | 128376419 | ||||||
| chr5:128376984
|
A | T | 1 | a0001c0001t0002g0082 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1850-131T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 13/64 | chr5 | 128376984 | ||||||
| chr5:128376994
|
C | T | 6 | a0001c0001t0001g0172a0001c0001t0001g0184a0001c0001t0001g0186others(3): Show | 6 | HG00099.hp1 HG01106.hp2 HG01192.hp1 others(3): Show |
intron_variant | MODIFIER | c.1850-141G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 13/64 | chr5 | 128376994 | ||||||
| chr5:128377207
|
G | T | 1 | a0019c0046t0010g0027 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1850-354C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 13/64 | chr5 | 128377207 | ||||||
| chr5:128377246
|
C | T | 109 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(106): Show | 109 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(106): Show |
intron_variant | MODIFIER | c.1850-393G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 13/64 | chr5 | 128377246 | ||||||
| chr5:128377425
|
T | C | 1 | a0003c0016t0002g0043 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1849+327A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 13/64 | chr5 | 128377425 | ||||||
| chr5:128377550
|
CA | C | 138 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0162others(135): Show | 138 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(135): Show |
intron_variant | MODIFIER | c.1849+201delT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 13/64 | chr5 | 128377550 | ||||||
| chr5:128377563
|
C | A | 2 | a0001c0001t0001g0157a0001c0001t0001g0159 | 2 | HG03654.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.1849+189G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 13/64 | chr5 | 128377563 | ||||||
| chr5:128377572
|
A | C | 1 | a0003c0010t0005g0094 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1849+180T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 13/64 | chr5 | 128377572 | ||||||
| chr5:128377603
|
T | C | 2 | a0001c0008t0025g0115a0013c0047t0002g0059 | 2 | HG03209.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.1849+149A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 13/64 | chr5 | 128377603 | ||||||
| chr5:128377656
|
C | T | 2 | a0002c0032t0009g0039a0002c0041t0011g0029 | 2 | HG02109.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1849+96G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 13/64 | chr5 | 128377656 | ||||||
| chr5:128377947
|
A | C | 1 | a0002c0037t0023g0034 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1724-70T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 12/64 | chr5 | 128377947 | ||||||
| chr5:128378008
|
G | GT | 82 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(79): Show | 82 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(79): Show |
intron_variant | MODIFIER | c.1724-132dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 12/64 | chr5 | 128378008 | ||||||
| chr5:128378008
|
G | GTT | 7 | a0001c0001t0001g0154a0001c0003t0001g0176a0001c0003t0001g0177others(4): Show | 7 | HG01069.hp2 HG01516.hp2 HG02523.hp1 others(4): Show |
intron_variant | MODIFIER | c.1724-133_1724-132d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 12/64 | chr5 | 128378008 | ||||||
| chr5:128378008
|
G | GTTT | 12 | a0001c0001t0003g0011a0003c0004t0001g0155a0003c0004t0002g0090others(9): Show | 12 | HG00741.hp1 HG01081.hp1 HG02818.hp1 others(9): Show |
intron_variant | MODIFIER | c.1724-134_1724-132d others(5): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 12/64 | chr5 | 128378008 | ||||||
| chr5:128378326
|
C | G | 113 | a0001c0001t0001g0172a0001c0001t0001g0175a0001c0001t0001g0184others(110): Show | 113 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(110): Show |
intron_variant | MODIFIER | c.1723+445G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 12/64 | chr5 | 128378326 | ||||||
| chr5:128378370
|
G | A | 2 | a0018c0030t0008g0021a0027c0027t0008g0020 | 2 | HG02965.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.1723+401C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 12/64 | chr5 | 128378370 | ||||||
| chr5:128378717
|
C | T | 1 | a0003c0004t0002g0083 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1723+54G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 12/64 | chr5 | 128378717 | ||||||
| chr5:128379011
|
G | A | 12 | a0001c0001t0003g0011a0003c0004t0002g0090a0003c0004t0003g0001others(9): Show | 12 | HG00741.hp1 HG01081.hp1 HG02818.hp1 others(9): Show |
intron_variant | MODIFIER | c.1604-121C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128379011 | ||||||
| chr5:128379070
|
G | A | 1 | a0001c0050t0001g0208 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1604-180C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128379070 | ||||||
| chr5:128379091
|
T | G | 12 | a0001c0001t0003g0011a0003c0004t0002g0090a0003c0004t0003g0001others(9): Show | 12 | HG00741.hp1 HG01081.hp1 HG02818.hp1 others(9): Show |
intron_variant | MODIFIER | c.1604-201A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128379091 | ||||||
| chr5:128379230
|
T | C | 2 | a0001c0001t0001g0126a0001c0001t0001g0127 | 2 | HG03927.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.1604-340A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128379230 | ||||||
| chr5:128379248
|
T | A | 1 | a0001c0001t0002g0076 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1604-358A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128379248 | ||||||
| chr5:128379254
|
A | T | 1 | a0001c0014t0014g0112 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1604-364T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128379254 | ||||||
| chr5:128380260
|
T | C | 116 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(113): Show | 116 | HG00099.hp2 HG00140.hp2 HG00609.hp1 others(113): Show |
intron_variant | MODIFIER | c.1604-1370A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128380260 | ||||||
| chr5:128380268
|
C | G | 80 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(77): Show | 80 | HG00099.hp2 HG00140.hp2 HG00609.hp1 others(77): Show |
intron_variant | MODIFIER | c.1604-1378G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128380268 | ||||||
| chr5:128380390
|
G | C | 1 | a0015c0049t0002g0066 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.1604-1500C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128380390 | ||||||
| chr5:128380513
|
C | G | 12 | a0001c0001t0003g0011a0003c0004t0002g0090a0003c0004t0003g0001others(9): Show | 12 | HG00741.hp1 HG01081.hp1 HG02818.hp1 others(9): Show |
intron_variant | MODIFIER | c.1604-1623G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128380513 | ||||||
| chr5:128380540
|
C | T | 94 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(91): Show | 94 | HG00099.hp2 HG00140.hp2 HG00609.hp1 others(91): Show |
intron_variant | MODIFIER | c.1604-1650G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128380540 | ||||||
| chr5:128380690
|
T | C | 1 | a0002c0002t0005g0086 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1604-1800A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128380690 | ||||||
| chr5:128380698
|
C | T | 2 | a0002c0032t0009g0039a0002c0041t0011g0029 | 2 | HG02109.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1604-1808G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128380698 | ||||||
| chr5:128380720
|
G | A | 1 | a0001c0003t0001g0190 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1604-1830C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128380720 | ||||||
| chr5:128380731
|
G | A | 100 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(97): Show | 100 | HG00099.hp2 HG00140.hp2 HG00609.hp1 others(97): Show |
intron_variant | MODIFIER | c.1604-1841C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128380731 | ||||||
| chr5:128380800
|
C | T | 3 | a0001c0003t0005g0100a0001c0009t0006g0028a0001c0009t0006g0030 | 3 | HG02717.hp2 HG03041.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.1604-1910G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128380800 | ||||||
| chr5:128380806
|
C | T | 2 | a0002c0032t0009g0039a0002c0041t0011g0029 | 2 | HG02109.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1604-1916G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128380806 | ||||||
| chr5:128380874
|
C | A | 12 | a0001c0001t0003g0011a0003c0004t0002g0090a0003c0004t0003g0001others(9): Show | 12 | HG00741.hp1 HG01081.hp1 HG02818.hp1 others(9): Show |
intron_variant | MODIFIER | c.1604-1984G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128380874 | ||||||
| chr5:128380995
|
AT | A | 10 | a0001c0001t0003g0011a0003c0004t0002g0090a0003c0004t0003g0001others(7): Show | 10 | HG00741.hp1 HG01081.hp1 HG03669.hp2 others(7): Show |
intron_variant | MODIFIER | c.1604-2106delA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128380995 | ||||||
| chr5:128381342
|
G | T | 1 | a0022c0066t0021g0101 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1604-2452C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128381342 | ||||||
| chr5:128381580
|
A | C | 24 | a0001c0003t0005g0100a0001c0009t0002g0040a0001c0009t0006g0028others(21): Show | 24 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(21): Show |
intron_variant | MODIFIER | c.1604-2690T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128381580 | ||||||
| chr5:128381694
|
G | A | 12 | a0001c0001t0003g0011a0003c0004t0002g0090a0003c0004t0003g0001others(9): Show | 12 | HG00741.hp1 HG01081.hp1 HG02818.hp1 others(9): Show |
intron_variant | MODIFIER | c.1604-2804C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128381694 | ||||||
| chr5:128381794
|
G | C | 1 | a0001c0003t0006g0060 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1604-2904C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128381794 | ||||||
| chr5:128381803
|
C | T | 2 | a0002c0002t0001g0219a0003c0004t0001g0160 | 2 | NA18972.hp1 NA18992.hp1 |
intron_variant | MODIFIER | c.1604-2913G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128381803 | ||||||
| chr5:128381877
|
C | G | 1 | a0001c0003t0017g0004 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1604-2987G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128381877 | ||||||
| chr5:128381984
|
A | G | 2 | a0001c0001t0005g0087a0001c0008t0006g0023 | 2 | HG03139.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.1604-3094T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128381984 | ||||||
| chr5:128382104
|
C | T | 80 | a0001c0001t0001g0175a0001c0001t0003g0011a0001c0001t0003g0013others(77): Show | 80 | HG00099.hp2 HG00609.hp1 HG00735.hp1 others(77): Show |
intron_variant | MODIFIER | c.1604-3214G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128382104 | ||||||
| chr5:128382465
|
A | G | 1 | a0001c0001t0001g0172 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1604-3575T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128382465 | ||||||
| chr5:128382508
|
G | A | 1 | a0020c0043t0019g0018 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1604-3618C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128382508 | ||||||
| chr5:128382509
|
T | C | 2 | a0010c0020t0001g0149a0010c0020t0001g0151 | 2 | HG00735.hp2 HG01109.hp1 |
intron_variant | MODIFIER | c.1604-3619A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128382509 | ||||||
| chr5:128382757
|
T | C | 12 | a0001c0001t0003g0011a0003c0004t0002g0090a0003c0004t0003g0001others(9): Show | 12 | HG00741.hp1 HG01081.hp1 HG02818.hp1 others(9): Show |
intron_variant | MODIFIER | c.1604-3867A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128382757 | ||||||
| chr5:128382830
|
T | C | 12 | a0001c0001t0003g0011a0003c0004t0002g0090a0003c0004t0003g0001others(9): Show | 12 | HG00741.hp1 HG01081.hp1 HG02818.hp1 others(9): Show |
intron_variant | MODIFIER | c.1604-3940A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128382830 | ||||||
| chr5:128383175
|
G | A | 8 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0164others(5): Show | 8 | HG00323.hp2 HG00609.hp2 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.1604-4285C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128383175 | ||||||
| chr5:128383534
|
C | A | 1 | a0001c0003t0001g0177 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.1604-4644G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128383534 | ||||||
| chr5:128383616
|
A | G | 1 | a0002c0040t0002g0041 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1604-4726T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128383616 | ||||||
| chr5:128383812
|
T | C | 101 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(98): Show | 101 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(98): Show |
intron_variant | MODIFIER | c.1604-4922A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128383812 | ||||||
| chr5:128383870
|
T | C | 1 | a0001c0001t0002g0082 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1604-4980A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128383870 | ||||||
| chr5:128384017
|
G | C | 1 | a0001c0001t0001g0226 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.1604-5127C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128384017 | ||||||
| chr5:128384575
|
C | T | 25 | a0001c0003t0005g0100a0001c0009t0002g0040a0001c0009t0006g0028others(22): Show | 25 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(22): Show |
intron_variant | MODIFIER | c.1604-5685G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128384575 | ||||||
| chr5:128384578
|
T | C | 1 | a0001c0009t0002g0040 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1604-5688A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128384578 | ||||||
| chr5:128384613
|
C | T | 1 | a0001c0050t0001g0208 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1604-5723G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128384613 | ||||||
| chr5:128385087
|
T | C | 1 | a0001c0001t0002g0076 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1604-6197A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128385087 | ||||||
| chr5:128385098
|
G | A | 5 | a0001c0008t0028g0113a0001c0035t0009g0036a0002c0034t0004g0038others(2): Show | 5 | HG02630.hp1 HG02970.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.1604-6208C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128385098 | ||||||
| chr5:128385139
|
T | G | 1 | a0001c0001t0001g0159 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1604-6249A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128385139 | ||||||
| chr5:128385278
|
G | C | 2 | a0004c0005t0001g0191a0004c0005t0001g0193 | 2 | HG02155.hp2 NA18951.hp2 |
intron_variant | MODIFIER | c.1604-6388C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128385278 | ||||||
| chr5:128385302
|
A | G | 3 | a0001c0008t0028g0113a0001c0035t0009g0036a0002c0038t0004g0035 | 3 | HG02630.hp1 HG03471.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1604-6412T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128385302 | ||||||
| chr5:128385439
|
T | C | 2 | a0002c0032t0009g0039a0002c0041t0011g0029 | 2 | HG02109.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1604-6549A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128385439 | ||||||
| chr5:128385485
|
A | G | 94 | a0001c0001t0001g0172a0001c0001t0001g0175a0001c0001t0001g0184others(91): Show | 94 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(91): Show |
intron_variant | MODIFIER | c.1603+6533T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128385485 | ||||||
| chr5:128385554
|
A | G | 5 | a0001c0008t0028g0113a0001c0035t0009g0036a0002c0034t0004g0038others(2): Show | 5 | HG02630.hp1 HG02970.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.1603+6464T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128385554 | ||||||
| chr5:128385857
|
C | T | 4 | a0001c0001t0001g0175a0001c0003t0001g0178a0001c0003t0001g0190others(1): Show | 4 | HG00735.hp1 HG01952.hp1 HG01978.hp1 others(1): Show |
intron_variant | MODIFIER | c.1603+6161G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128385857 | ||||||
| chr5:128385893
|
T | C | 5 | a0001c0008t0028g0113a0001c0035t0009g0036a0002c0034t0004g0038others(2): Show | 5 | HG02630.hp1 HG02970.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.1603+6125A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128385893 | ||||||
| chr5:128385931
|
C | T | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.1603+6087G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128385931 | ||||||
| chr5:128386311
|
T | A | 1 | a0003c0004t0002g0089 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1603+5707A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128386311 | ||||||
| chr5:128386402
|
C | G | 5 | a0004c0005t0001g0195a0004c0005t0001g0196a0004c0005t0001g0197others(2): Show | 5 | NA18956.hp2 NA18967.hp2 NA18977.hp2 others(2): Show |
intron_variant | MODIFIER | c.1603+5616G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128386402 | ||||||
| chr5:128386414
|
G | C | 12 | a0001c0001t0003g0011a0003c0004t0002g0090a0003c0004t0003g0001others(9): Show | 12 | HG00741.hp1 HG01081.hp1 HG02818.hp1 others(9): Show |
intron_variant | MODIFIER | c.1603+5604C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128386414 | ||||||
| chr5:128386428
|
T | C | 31 | a0001c0001t0001g0162a0001c0001t0001g0227a0001c0001t0001g0229others(28): Show | 31 | HG00558.hp1 HG01074.hp2 HG01975.hp1 others(28): Show |
intron_variant | MODIFIER | c.1603+5590A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128386428 | ||||||
| chr5:128386464
|
T | C | 45 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0162others(42): Show | 45 | HG00323.hp2 HG00558.hp1 HG00609.hp2 others(42): Show |
intron_variant | MODIFIER | c.1603+5554A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128386464 | ||||||
| chr5:128386506
|
C | T | 1 | a0002c0002t0001g0225 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.1603+5512G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128386506 | ||||||
| chr5:128386634
|
C | T | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1603+5384G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128386634 | ||||||
| chr5:128386665
|
T | C | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1603+5353A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128386665 | ||||||
| chr5:128386800
|
C | T | 1 | a0001c0036t0004g0032 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1603+5218G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128386800 | ||||||
| chr5:128386801
|
G | A | 5 | a0001c0008t0028g0113a0001c0035t0009g0036a0002c0034t0004g0038others(2): Show | 5 | HG02630.hp1 HG02970.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.1603+5217C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128386801 | ||||||
| chr5:128387042
|
C | T | 104 | a0001c0001t0001g0175a0001c0001t0003g0011a0001c0001t0003g0013others(101): Show | 104 | HG00099.hp2 HG00609.hp1 HG00639.hp1 others(101): Show |
intron_variant | MODIFIER | c.1603+4976G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128387042 | ||||||
| chr5:128387117
|
G | T | 43 | a0001c0001t0001g0175a0001c0001t0003g0013a0001c0001t0003g0014others(40): Show | 43 | HG00099.hp2 HG00609.hp1 HG00735.hp1 others(40): Show |
intron_variant | MODIFIER | c.1603+4901C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128387117 | ||||||
| chr5:128387141
|
G | A | 69 | a0001c0001t0001g0175a0001c0001t0003g0013a0001c0001t0003g0014others(66): Show | 69 | HG00099.hp2 HG00609.hp1 HG00735.hp1 others(66): Show |
intron_variant | MODIFIER | c.1603+4877C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128387141 | ||||||
| chr5:128387172
|
G | A | 1 | a0001c0050t0001g0208 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1603+4846C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128387172 | ||||||
| chr5:128387225
|
C | T | 1 | a0003c0044t0004g0053 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1603+4793G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128387225 | ||||||
| chr5:128387231
|
G | C | 1 | a0001c0003t0001g0182 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.1603+4787C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128387231 | ||||||
| chr5:128387254
|
T | G | 1 | a0001c0001t0002g0075 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1603+4764A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128387254 | ||||||
| chr5:128387307
|
T | C | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.1603+4711A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128387307 | ||||||
| chr5:128387588
|
G | A | 2 | a0002c0032t0009g0039a0002c0041t0011g0029 | 2 | HG02109.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.1603+4430C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128387588 | ||||||
| chr5:128387732
|
T | C | 25 | a0001c0003t0005g0100a0001c0009t0002g0040a0001c0009t0006g0028others(22): Show | 25 | HG01074.hp1 HG01256.hp2 HG01258.hp1 others(22): Show |
intron_variant | MODIFIER | c.1603+4286A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128387732 | ||||||
| chr5:128387968
|
T | C | 1 | a0004c0005t0001g0196 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.1603+4050A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128387968 | ||||||
| chr5:128388192
|
G | A | 1 | a0003c0004t0033g0128 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1603+3826C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128388192 | ||||||
| chr5:128388369
|
T | A | 3 | a0003c0004t0002g0088a0003c0004t0002g0089a0003c0010t0005g0094 | 3 | HG01884.hp1 HG02055.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.1603+3649A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128388369 | ||||||
| chr5:128388399
|
A | T | 43 | a0001c0001t0001g0175a0001c0001t0003g0013a0001c0001t0003g0014others(40): Show | 43 | HG00099.hp2 HG00609.hp1 HG00735.hp1 others(40): Show |
intron_variant | MODIFIER | c.1603+3619T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128388399 | ||||||
| chr5:128388406
|
T | C | 1 | a0001c0003t0001g0181 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.1603+3612A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128388406 | ||||||
| chr5:128388688
|
T | C | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.1603+3330A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128388688 | ||||||
| chr5:128388856
|
A | G | 213 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(210): Show | 213 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(210): Show |
intron_variant | MODIFIER | c.1603+3162T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128388856 | ||||||
| chr5:128388915
|
A | G | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1603+3103T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128388915 | ||||||
| chr5:128389234
|
T | G | 4 | a0003c0004t0002g0063a0003c0004t0002g0064a0003c0004t0002g0083others(1): Show | 4 | HG02809.hp2 HG02896.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.1603+2784A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128389234 | ||||||
| chr5:128389379
|
C | T | 1 | a0003c0004t0003g0012 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.1603+2639G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128389379 | ||||||
| chr5:128389706
|
T | C | 1 | a0001c0001t0002g0076 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1603+2312A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128389706 | ||||||
| chr5:128389746
|
C | G | 1 | a0001c0003t0006g0060 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1603+2272G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128389746 | ||||||
| chr5:128389774
|
T | C | 87 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(84): Show | 87 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(84): Show |
intron_variant | MODIFIER | c.1603+2244A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128389774 | ||||||
| chr5:128389934
|
T | C | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1603+2084A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128389934 | ||||||
| chr5:128390127
|
G | A | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1603+1891C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128390127 | ||||||
| chr5:128390172
|
A | G | 1 | a0001c0001t0001g0226 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.1603+1846T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128390172 | ||||||
| chr5:128390523
|
A | G | 1 | a0003c0006t0004g0050 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.1603+1495T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128390523 | ||||||
| chr5:128390573
|
A | C | 8 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0164others(5): Show | 8 | HG00323.hp2 HG00609.hp2 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.1603+1445T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128390573 | ||||||
| chr5:128390730
|
A | G | 1 | a0003c0004t0002g0083 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1603+1288T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128390730 | ||||||
| chr5:128390909
|
G | A | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1603+1109C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128390909 | ||||||
| chr5:128391062
|
A | C | 1 | a0003c0044t0004g0053 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1603+956T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128391062 | ||||||
| chr5:128391839
|
G | T | 1 | a0002c0002t0001g0132 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.1603+179C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128391839 | ||||||
| chr5:128391944
|
C | A | 1 | a0022c0066t0021g0101 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1603+74G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 11/64 | chr5 | 128391944 | ||||||
| chr5:128392159
|
C | T | 1 | a0003c0004t0033g0128 | 1 | NA21309.hp1 | splice_region_variant&intron_variant | LOW | c.1466-4G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 10/64 | chr5 | 128392159 | ||||||
| chr5:128392160
|
G | A | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | splice_region_variant&intron_variant | LOW | c.1466-5C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 10/64 | chr5 | 128392160 | ||||||
| chr5:128392253
|
TGTA | T | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.1466-101_1466-99de others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 10/64 | chr5 | 128392253 | ||||||
| chr5:128392573
|
G | A | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1466-418C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 10/64 | chr5 | 128392573 | ||||||
| chr5:128392695
|
T | C | 4 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103others(1): Show | 4 | HG02109.hp2 HG02970.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.1465+440A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 10/64 | chr5 | 128392695 | ||||||
| chr5:128392743
|
G | A | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1465+392C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 10/64 | chr5 | 128392743 | ||||||
| chr5:128392864
|
T | C | 11 | a0001c0001t0001g0184a0001c0001t0001g0186a0001c0001t0001g0188others(8): Show | 11 | HG00099.hp1 HG01106.hp2 HG01192.hp1 others(8): Show |
intron_variant | MODIFIER | c.1465+271A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 10/64 | chr5 | 128392864 | ||||||
| chr5:128392895
|
G | C | 1 | a0001c0009t0002g0040 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1465+240C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 10/64 | chr5 | 128392895 | ||||||
| chr5:128393081
|
T | C | 12 | a0001c0003t0006g0060a0001c0033t0005g0037a0001c0036t0004g0032others(9): Show | 12 | HG00639.hp1 HG01884.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.1465+54A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 10/64 | chr5 | 128393081 | ||||||
| chr5:128393417
|
A | G | 1 | a0001c0003t0005g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1232-49T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 9/64 | chr5 | 128393417 | ||||||
| chr5:128393613
|
T | C | 1 | a0001c0008t0025g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1232-245A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 9/64 | chr5 | 128393613 | ||||||
| chr5:128393620
|
T | C | 3 | a0001c0011t0022g0061a0001c0014t0014g0112a0001c0014t0014g0114 | 3 | HG02572.hp1 HG02970.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.1232-252A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 9/64 | chr5 | 128393620 | ||||||
| chr5:128393999
|
A | G | 2 | a0001c0009t0006g0028a0001c0009t0006g0030 | 2 | HG02717.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1232-631T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 9/64 | chr5 | 128393999 | ||||||
| chr5:128394256
|
A | G | 2 | a0001c0001t0003g0002a0003c0004t0003g0001 | 2 | HG00741.hp1 HG02698.hp2 |
intron_variant | MODIFIER | c.1231+866T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 9/64 | chr5 | 128394256 | ||||||
| chr5:128394520
|
C | T | 25 | a0001c0003t0005g0100a0001c0009t0002g0040a0001c0009t0006g0028others(22): Show | 25 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(22): Show |
intron_variant | MODIFIER | c.1231+602G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 9/64 | chr5 | 128394520 | ||||||
| chr5:128394710
|
C | T | 10 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(7): Show | 10 | HG00323.hp2 HG00609.hp2 HG01081.hp1 others(7): Show |
intron_variant | MODIFIER | c.1231+412G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 9/64 | chr5 | 128394710 | ||||||
| chr5:128394899
|
C | CCT | 10 | a0001c0001t0003g0002a0003c0004t0002g0090a0003c0004t0003g0001others(7): Show | 10 | HG00741.hp1 HG02698.hp2 HG03669.hp2 others(7): Show |
intron_variant | MODIFIER | c.1231+221_1231+222d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 9/64 | chr5 | 128394899 | ||||||
| chr5:128395085
|
G | C | 4 | a0001c0003t0001g0201a0001c0003t0001g0204a0001c0057t0001g0202others(1): Show | 4 | HG01361.hp1 HG02145.hp1 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.1231+37C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 9/64 | chr5 | 128395085 | ||||||
| chr5:128395410
|
C | T | 1 | a0003c0065t0011g0084 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1079-136G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128395410 | ||||||
| chr5:128395513
|
A | G | 1 | a0026c0070t0002g0105 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1079-239T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128395513 | ||||||
| chr5:128395517
|
T | G | 25 | a0001c0003t0005g0100a0001c0009t0002g0040a0001c0009t0006g0028others(22): Show | 25 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(22): Show |
intron_variant | MODIFIER | c.1079-243A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128395517 | ||||||
| chr5:128395570
|
G | C | 1 | a0003c0065t0011g0084 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1079-296C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128395570 | ||||||
| chr5:128396055
|
G | A | 1 | a0003c0004t0036g0233 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1079-781C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128396055 | ||||||
| chr5:128396110
|
C | G | 1 | a0003c0016t0037g0234 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1079-836G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128396110 | ||||||
| chr5:128396149
|
G | C | 1 | a0002c0023t0007g0121 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1079-875C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128396149 | ||||||
| chr5:128396331
|
T | A | 1 | a0001c0058t0020g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1079-1057A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128396331 | ||||||
| chr5:128396671
|
T | C | 59 | a0001c0001t0001g0172a0001c0001t0001g0184a0001c0001t0001g0186others(56): Show | 59 | HG00099.hp1 HG00140.hp1 HG01069.hp1 others(56): Show |
intron_variant | MODIFIER | c.1079-1397A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128396671 | ||||||
| chr5:128396837
|
C | G | 81 | a0001c0001t0001g0172a0001c0001t0001g0184a0001c0001t0001g0186others(78): Show | 81 | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(78): Show |
intron_variant | MODIFIER | c.1079-1563G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128396837 | ||||||
| chr5:128396843
|
C | T | 25 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(22): Show | 25 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(22): Show |
intron_variant | MODIFIER | c.1079-1569G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128396843 | ||||||
| chr5:128397037
|
C | T | 14 | a0001c0001t0003g0002a0003c0004t0002g0090a0003c0004t0003g0001others(11): Show | 14 | HG00741.hp1 HG01516.hp2 HG02129.hp1 others(11): Show |
intron_variant | MODIFIER | c.1079-1763G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128397037 | ||||||
| chr5:128397386
|
T | C | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1079-2112A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128397386 | ||||||
| chr5:128397430
|
G | T | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.1079-2156C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128397430 | ||||||
| chr5:128397514
|
C | T | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1079-2240G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128397514 | ||||||
| chr5:128397655
|
G | C | 1 | a0026c0070t0002g0105 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1079-2381C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128397655 | ||||||
| chr5:128397804
|
CTG | C | 2 | a0001c0001t0005g0087a0001c0008t0006g0023 | 2 | HG03139.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.1079-2532_1079-253 others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128397804 | ||||||
| chr5:128397970
|
C | T | 2 | a0001c0001t0001g0147a0001c0001t0001g0148 | 2 | HG00323.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.1079-2696G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128397970 | ||||||
| chr5:128398176
|
G | A | 1 | a0001c0001t0002g0075 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1079-2902C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128398176 | ||||||
| chr5:128398249
|
G | T | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1079-2975C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128398249 | ||||||
| chr5:128398268
|
A | G | 25 | a0001c0001t0001g0172a0001c0001t0001g0184a0001c0001t0001g0186others(22): Show | 25 | HG00099.hp1 HG01106.hp2 HG01192.hp1 others(22): Show |
intron_variant | MODIFIER | c.1079-2994T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128398268 | ||||||
| chr5:128398337
|
T | C | 30 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(27): Show | 30 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(27): Show |
intron_variant | MODIFIER | c.1079-3063A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128398337 | ||||||
| chr5:128398615
|
T | C | 1 | a0003c0006t0004g0048 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.1079-3341A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128398615 | ||||||
| chr5:128399148
|
G | T | 1 | a0002c0032t0009g0039 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1079-3874C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128399148 | ||||||
| chr5:128399333
|
T | C | 1 | a0001c0001t0001g0188 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1079-4059A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128399333 | ||||||
| chr5:128399968
|
A | G | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.1079-4694T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128399968 | ||||||
| chr5:128400106
|
T | C | 1 | a0001c0009t0006g0030 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1079-4832A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128400106 | ||||||
| chr5:128400196
|
C | G | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1079-4922G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128400196 | ||||||
| chr5:128400302
|
C | T | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1079-5028G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128400302 | ||||||
| chr5:128400514
|
T | C | 1 | a0001c0001t0001g0156 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.1079-5240A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128400514 | ||||||
| chr5:128400653
|
T | C | 5 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0226others(2): Show | 5 | HG00609.hp2 HG03927.hp1 NA18940.hp1 others(2): Show |
intron_variant | MODIFIER | c.1079-5379A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128400653 | ||||||
| chr5:128400757
|
G | A | 1 | a0001c0001t0002g0077 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.1079-5483C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128400757 | ||||||
| chr5:128400875
|
T | C | 1 | a0015c0049t0002g0066 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.1079-5601A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128400875 | ||||||
| chr5:128400891
|
G | C | 4 | a0001c0001t0005g0087a0001c0008t0006g0023a0002c0015t0010g0025others(1): Show | 4 | HG02818.hp2 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1079-5617C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128400891 | ||||||
| chr5:128401014
|
C | T | 1 | a0001c0001t0002g0070 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1079-5740G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128401014 | ||||||
| chr5:128401088
|
A | G | 1 | a0001c0003t0017g0004 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1079-5814T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128401088 | ||||||
| chr5:128401158
|
T | C | 2 | a0001c0001t0001g0126a0001c0001t0001g0127 | 2 | HG03927.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.1079-5884A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128401158 | ||||||
| chr5:128401236
|
A | G | 1 | a0001c0001t0002g0076 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1079-5962T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128401236 | ||||||
| chr5:128401340
|
C | T | 14 | a0001c0009t0002g0040a0001c0009t0002g0049a0003c0006t0004g0042others(11): Show | 14 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(11): Show |
intron_variant | MODIFIER | c.1079-6066G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128401340 | ||||||
| chr5:128401681
|
T | C | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.1079-6407A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128401681 | ||||||
| chr5:128401683
|
AG | A | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1079-6410delC | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128401683 | ||||||
| chr5:128401690
|
G | A | 1 | a0002c0002t0005g0086 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1079-6416C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128401690 | ||||||
| chr5:128401737
|
C | T | 1 | a0026c0070t0002g0105 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1079-6463G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128401737 | ||||||
| chr5:128401786
|
A | G | 4 | a0001c0001t0005g0087a0001c0008t0006g0023a0002c0015t0010g0025others(1): Show | 4 | HG02818.hp2 HG03139.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1079-6512T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128401786 | ||||||
| chr5:128401828
|
A | G | 1 | a0003c0065t0011g0084 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1079-6554T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128401828 | ||||||
| chr5:128402205
|
A | C | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1078+6469T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128402205 | ||||||
| chr5:128402373
|
C | T | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1078+6301G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128402373 | ||||||
| chr5:128402525
|
A | C | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1078+6149T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128402525 | ||||||
| chr5:128402537
|
C | T | 2 | a0001c0033t0005g0037a0002c0055t0008g0093 | 2 | NA18522.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.1078+6137G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128402537 | ||||||
| chr5:128402823
|
T | C | 1 | a0003c0016t0002g0043 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1078+5851A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128402823 | ||||||
| chr5:128402954
|
C | T | 1 | a0003c0007t0002g0033 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1078+5720G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128402954 | ||||||
| chr5:128403202
|
C | A | 28 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(25): Show | 28 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(25): Show |
intron_variant | MODIFIER | c.1078+5472G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128403202 | ||||||
| chr5:128403371
|
T | A | 1 | a0025c0069t0005g0109 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1078+5303A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128403371 | ||||||
| chr5:128403471
|
A | T | 1 | a0001c0001t0001g0159 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1078+5203T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128403471 | ||||||
| chr5:128403594
|
T | C | 4 | a0002c0002t0005g0102a0002c0023t0007g0121a0002c0023t0038g0235others(1): Show | 4 | HG02280.hp2 HG02630.hp2 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.1078+5080A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128403594 | ||||||
| chr5:128404007
|
A | C | 30 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(27): Show | 30 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(27): Show |
intron_variant | MODIFIER | c.1078+4667T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128404007 | ||||||
| chr5:128404113
|
A | G | 1 | a0001c0008t0028g0113 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1078+4561T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128404113 | ||||||
| chr5:128404343
|
G | A | 25 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(22): Show | 25 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(22): Show |
intron_variant | MODIFIER | c.1078+4331C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128404343 | ||||||
| chr5:128404690
|
T | G | 14 | a0001c0009t0002g0049a0003c0006t0004g0042a0003c0006t0004g0044others(11): Show | 14 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(11): Show |
intron_variant | MODIFIER | c.1078+3984A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128404690 | ||||||
| chr5:128404743
|
C | T | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1078+3931G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128404743 | ||||||
| chr5:128404772
|
C | A | 2 | a0003c0004t0006g0095a0008c0042t0012g0054 | 2 | HG02922.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.1078+3902G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128404772 | ||||||
| chr5:128404883
|
C | T | 49 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(46): Show | 49 | HG00323.hp2 HG00558.hp1 HG00609.hp2 others(46): Show |
intron_variant | MODIFIER | c.1078+3791G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128404883 | ||||||
| chr5:128405266
|
G | A | 5 | a0001c0009t0002g0049a0003c0006t0004g0042a0003c0006t0004g0051others(2): Show | 5 | HG01346.hp2 HG01358.hp2 HG03239.hp2 others(2): Show |
intron_variant | MODIFIER | c.1078+3408C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128405266 | ||||||
| chr5:128405384
|
A | G | 158 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(155): Show | 158 | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(155): Show |
intron_variant | MODIFIER | c.1078+3290T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128405384 | ||||||
| chr5:128405470
|
A | G | 50 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(47): Show | 50 | HG00323.hp2 HG00558.hp1 HG00609.hp2 others(47): Show |
intron_variant | MODIFIER | c.1078+3204T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128405470 | ||||||
| chr5:128405691
|
T | G | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1078+2983A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128405691 | ||||||
| chr5:128406160
|
G | A | 25 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(22): Show | 25 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(22): Show |
intron_variant | MODIFIER | c.1078+2514C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128406160 | ||||||
| chr5:128406339
|
A | G | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1078+2335T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128406339 | ||||||
| chr5:128406715
|
C | A | 25 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(22): Show | 25 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(22): Show |
intron_variant | MODIFIER | c.1078+1959G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128406715 | ||||||
| chr5:128406917
|
G | C | 1 | a0025c0069t0005g0109 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1078+1757C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128406917 | ||||||
| chr5:128407028
|
C | T | 72 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(69): Show | 72 | HG00140.hp1 HG00639.hp1 HG01069.hp1 others(69): Show |
intron_variant | MODIFIER | c.1078+1646G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128407028 | ||||||
| chr5:128407138
|
G | A | 1 | a0001c0001t0002g0079 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.1078+1536C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128407138 | ||||||
| chr5:128407390
|
G | T | 49 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(46): Show | 49 | HG00323.hp2 HG00558.hp1 HG00609.hp2 others(46): Show |
intron_variant | MODIFIER | c.1078+1284C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128407390 | ||||||
| chr5:128407519
|
C | T | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.1078+1155G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128407519 | ||||||
| chr5:128407608
|
T | C | 1 | a0001c0028t0002g0022 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1078+1066A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128407608 | ||||||
| chr5:128407683
|
A | C | 1 | a0002c0040t0002g0041 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1078+991T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128407683 | ||||||
| chr5:128407897
|
C | T | 13 | a0001c0003t0006g0060a0001c0011t0009g0065a0001c0033t0005g0037others(10): Show | 13 | HG00639.hp1 HG01884.hp2 HG02055.hp2 others(10): Show |
intron_variant | MODIFIER | c.1078+777G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128407897 | ||||||
| chr5:128408001
|
C | T | 16 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(13): Show | 16 | HG00741.hp1 HG01516.hp2 HG02129.hp1 others(13): Show |
intron_variant | MODIFIER | c.1078+673G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128408001 | ||||||
| chr5:128408077
|
T | C | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1078+597A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128408077 | ||||||
| chr5:128408255
|
A | G | 1 | a0002c0002t0005g0086 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1078+419T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128408255 | ||||||
| chr5:128408389
|
T | G | 2 | a0001c0003t0005g0100a0002c0015t0008g0024 | 2 | HG03139.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.1078+285A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128408389 | ||||||
| chr5:128408516
|
C | G | 1 | a0004c0005t0001g0205 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.1078+158G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 8/64 | chr5 | 128408516 | ||||||
| chr5:128408878
|
G | T | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.953-79C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128408878 | ||||||
| chr5:128408987
|
TAAACTCC others(15): Show |
T | 1 | a0002c0002t0001g0215 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.953-210_953-189del others(22): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128408987 | ||||||
| chr5:128409076
|
G | A | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.953-277C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128409076 | ||||||
| chr5:128409122
|
C | T | 1 | a0003c0013t0007g0203 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.953-323G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128409122 | ||||||
| chr5:128409132
|
C | T | 10 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(7): Show | 10 | HG00323.hp2 HG00609.hp2 HG01081.hp1 others(7): Show |
intron_variant | MODIFIER | c.953-333G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128409132 | ||||||
| chr5:128409212
|
A | G | 2 | a0003c0006t0004g0044a0003c0006t0004g0045 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.953-413T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128409212 | ||||||
| chr5:128409290
|
A | T | 2 | a0001c0001t0005g0087a0001c0008t0006g0023 | 2 | HG03139.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.953-491T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128409290 | ||||||
| chr5:128409368
|
G | C | 1 | a0001c0001t0002g0077 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.953-569C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128409368 | ||||||
| chr5:128409647
|
A | G | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.953-848T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128409647 | ||||||
| chr5:128409836
|
A | C | 1 | a0001c0003t0001g0181 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.953-1037T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128409836 | ||||||
| chr5:128410028
|
T | C | 1 | a0002c0002t0001g0222 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.953-1229A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128410028 | ||||||
| chr5:128410032
|
C | T | 1 | a0002c0039t0005g0031 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.953-1233G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128410032 | ||||||
| chr5:128410073
|
A | G | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.953-1274T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128410073 | ||||||
| chr5:128410075
|
A | G | 1 | a0001c0001t0002g0070 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.953-1276T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128410075 | ||||||
| chr5:128410262
|
T | A | 30 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(27): Show | 30 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(27): Show |
intron_variant | MODIFIER | c.953-1463A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128410262 | ||||||
| chr5:128410273
|
C | T | 1 | a0001c0048t0001g0120 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.953-1474G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128410273 | ||||||
| chr5:128410337
|
A | C | 1 | a0002c0029t0027g0118 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.953-1538T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128410337 | ||||||
| chr5:128410575
|
A | T | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.953-1776T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128410575 | ||||||
| chr5:128410741
|
T | C | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.953-1942A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128410741 | ||||||
| chr5:128411165
|
C | A | 1 | a0022c0066t0021g0101 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.953-2366G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128411165 | ||||||
| chr5:128411221
|
G | A | 7 | a0001c0008t0025g0115a0001c0011t0010g0104a0001c0011t0022g0061others(4): Show | 7 | HG02257.hp2 HG02572.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.953-2422C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128411221 | ||||||
| chr5:128411269
|
T | C | 7 | a0001c0008t0025g0115a0001c0011t0010g0104a0001c0011t0022g0061others(4): Show | 7 | HG02257.hp2 HG02572.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.953-2470A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128411269 | ||||||
| chr5:128411297
|
T | C | 2 | a0002c0032t0009g0039a0002c0034t0004g0038 | 2 | HG02109.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.953-2498A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128411297 | ||||||
| chr5:128411360
|
C | T | 1 | a0001c0001t0001g0153 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.953-2561G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128411360 | ||||||
| chr5:128411509
|
G | A | 3 | a0003c0004t0006g0095a0008c0042t0012g0054a0008c0063t0012g0096 | 3 | HG02922.hp1 HG02922.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.953-2710C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128411509 | ||||||
| chr5:128411512
|
C | T | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.953-2713G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128411512 | ||||||
| chr5:128412108
|
A | AAACT | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.953-3313_953-3310d others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128412108 | ||||||
| chr5:128412162
|
C | T | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.953-3363G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128412162 | ||||||
| chr5:128412190
|
T | C | 49 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(46): Show | 49 | HG00323.hp2 HG00558.hp1 HG00609.hp2 others(46): Show |
intron_variant | MODIFIER | c.953-3391A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128412190 | ||||||
| chr5:128412571
|
AAAC | A | 4 | a0001c0003t0005g0100a0001c0009t0006g0028a0001c0009t0006g0030others(1): Show | 4 | HG02717.hp2 HG03041.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.953-3775_953-3773d others(5): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128412571 | ||||||
| chr5:128412859
|
C | T | 59 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(56): Show | 59 | HG00323.hp2 HG00558.hp1 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.953-4060G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128412859 | ||||||
| chr5:128413130
|
A | G | 1 | a0004c0005t0001g0191 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.953-4331T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128413130 | ||||||
| chr5:128413374
|
G | A | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.953-4575C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128413374 | ||||||
| chr5:128413605
|
C | T | 62 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(59): Show | 62 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(59): Show |
intron_variant | MODIFIER | c.953-4806G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128413605 | ||||||
| chr5:128413612
|
C | T | 1 | a0005c0017t0003g0015 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.953-4813G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128413612 | ||||||
| chr5:128413768
|
TAAAAC | T | 9 | a0001c0011t0009g0065a0001c0033t0005g0037a0001c0036t0004g0032others(6): Show | 9 | HG00639.hp1 HG01884.hp2 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.953-4974_953-4970d others(7): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128413768 | ||||||
| chr5:128413877
|
A | G | 1 | a0003c0006t0004g0046 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.953-5078T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128413877 | ||||||
| chr5:128414013
|
A | G | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.953-5214T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128414013 | ||||||
| chr5:128414159
|
C | G | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.953-5360G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128414159 | ||||||
| chr5:128414203
|
T | C | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.953-5404A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128414203 | ||||||
| chr5:128414250
|
C | G | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.953-5451G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128414250 | ||||||
| chr5:128414709
|
C | G | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.953-5910G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128414709 | ||||||
| chr5:128414810
|
T | C | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.953-6011A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128414810 | ||||||
| chr5:128414897
|
G | A | 2 | a0003c0004t0001g0124a0003c0004t0001g0129 | 2 | HG01361.hp2 HG03239.hp1 |
intron_variant | MODIFIER | c.953-6098C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128414897 | ||||||
| chr5:128414910
|
G | A | 2 | a0001c0009t0006g0028a0001c0009t0006g0030 | 2 | HG02717.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.953-6111C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128414910 | ||||||
| chr5:128415355
|
C | T | 1 | a0001c0001t0002g0079 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.953-6556G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128415355 | ||||||
| chr5:128415363
|
C | T | 38 | a0001c0001t0001g0162a0001c0001t0001g0227a0001c0001t0001g0229others(35): Show | 38 | HG00558.hp1 HG01074.hp2 HG01975.hp1 others(35): Show |
intron_variant | MODIFIER | c.953-6564G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128415363 | ||||||
| chr5:128415541
|
C | G | 9 | a0001c0011t0009g0065a0001c0033t0005g0037a0001c0036t0004g0032others(6): Show | 9 | HG00639.hp1 HG01884.hp2 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.953-6742G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128415541 | ||||||
| chr5:128415716
|
A | T | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.953-6917T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128415716 | ||||||
| chr5:128415854
|
C | A | 30 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(27): Show | 30 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(27): Show |
intron_variant | MODIFIER | c.953-7055G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128415854 | ||||||
| chr5:128416026
|
C | CT | 7 | a0001c0001t0002g0075a0001c0003t0001g0173a0001c0003t0001g0174others(4): Show | 7 | HG02109.hp2 HG02970.hp2 HG03471.hp1 others(4): Show |
intron_variant | MODIFIER | c.953-7228dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128416026 | ||||||
| chr5:128416026
|
CT | C | 5 | a0001c0001t0001g0231a0002c0002t0001g0168a0002c0060t0007g0228others(2): Show | 5 | HG00558.hp1 HG02129.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.953-7228delA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128416026 | ||||||
| chr5:128416142
|
C | T | 1 | a0012c0026t0002g0107 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.953-7343G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128416142 | ||||||
| chr5:128416143
|
G | A | 1 | a0001c0003t0006g0060 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.953-7344C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128416143 | ||||||
| chr5:128416292
|
T | C | 1 | a0001c0050t0001g0208 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.953-7493A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128416292 | ||||||
| chr5:128416311
|
C | A | 2 | a0001c0045t0006g0026a0019c0046t0010g0027 | 2 | HG02559.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.953-7512G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128416311 | ||||||
| chr5:128416464
|
C | T | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.953-7665G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128416464 | ||||||
| chr5:128416568
|
T | C | 68 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(65): Show | 68 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(65): Show |
intron_variant | MODIFIER | c.953-7769A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128416568 | ||||||
| chr5:128416602
|
G | T | 1 | a0001c0003t0001g0182 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.953-7803C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128416602 | ||||||
| chr5:128416733
|
G | A | 1 | a0003c0004t0003g0001 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.953-7934C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128416733 | ||||||
| chr5:128417141
|
T | C | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.953-8342A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128417141 | ||||||
| chr5:128417608
|
A | T | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.953-8809T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128417608 | ||||||
| chr5:128417860
|
A | C | 1 | a0003c0044t0004g0053 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.953-9061T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128417860 | ||||||
| chr5:128417982
|
T | G | 1 | a0001c0001t0001g0127 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.953-9183A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128417982 | ||||||
| chr5:128417993
|
TAA | T | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.953-9196_953-9195d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128417993 | ||||||
| chr5:128418010
|
A | G | 3 | a0001c0001t0005g0087a0001c0008t0006g0023a0001c0028t0002g0022 | 3 | HG02145.hp2 HG03139.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.953-9211T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128418010 | ||||||
| chr5:128418031
|
A | G | 1 | a0002c0002t0005g0086 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.953-9232T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128418031 | ||||||
| chr5:128418105
|
T | G | 167 | a0001c0001t0001g0172a0001c0001t0001g0175a0001c0001t0001g0184others(164): Show | 167 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(164): Show |
intron_variant | MODIFIER | c.953-9306A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128418105 | ||||||
| chr5:128418203
|
T | A | 1 | a0001c0058t0020g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.953-9404A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128418203 | ||||||
| chr5:128418295
|
A | G | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.953-9496T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128418295 | ||||||
| chr5:128418507
|
A | T | 95 | a0001c0001t0001g0172a0001c0001t0001g0175a0001c0001t0001g0184others(92): Show | 95 | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(92): Show |
intron_variant | MODIFIER | c.953-9708T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128418507 | ||||||
| chr5:128418878
|
C | A | 41 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(38): Show | 41 | HG00099.hp2 HG00741.hp1 HG01361.hp1 others(38): Show |
intron_variant | MODIFIER | c.953-10079G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128418878 | ||||||
| chr5:128418928
|
G | A | 5 | a0001c0008t0028g0113a0001c0035t0009g0036a0001c0045t0006g0026others(2): Show | 5 | HG02559.hp1 HG02630.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.953-10129C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128418928 | ||||||
| chr5:128419045
|
A | G | 1 | a0003c0004t0002g0103 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.953-10246T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128419045 | ||||||
| chr5:128419053
|
A | G | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.953-10254T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128419053 | ||||||
| chr5:128419311
|
T | C | 1 | a0003c0004t0036g0233 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.953-10512A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128419311 | ||||||
| chr5:128419418
|
A | T | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.953-10619T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128419418 | ||||||
| chr5:128419425
|
A | G | 1 | a0002c0002t0001g0221 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.953-10626T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128419425 | ||||||
| chr5:128419685
|
C | A | 167 | a0001c0001t0001g0172a0001c0001t0001g0175a0001c0001t0001g0184others(164): Show | 167 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(164): Show |
intron_variant | MODIFIER | c.953-10886G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128419685 | ||||||
| chr5:128419762
|
G | A | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.953-10963C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128419762 | ||||||
| chr5:128419845
|
G | A | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.953-11046C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128419845 | ||||||
| chr5:128419855
|
C | A | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.953-11056G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128419855 | ||||||
| chr5:128419858
|
G | C | 3 | a0003c0004t0002g0063a0003c0004t0002g0064a0003c0004t0005g0062 | 3 | HG02896.hp1 HG03579.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.953-11059C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128419858 | ||||||
| chr5:128419876
|
G | T | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.953-11077C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128419876 | ||||||
| chr5:128419991
|
G | A | 1 | a0002c0023t0038g0235 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.953-11192C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128419991 | ||||||
| chr5:128420080
|
C | T | 1 | a0001c0001t0001g0188 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.953-11281G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128420080 | ||||||
| chr5:128420303
|
A | C | 41 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(38): Show | 41 | HG00099.hp2 HG00741.hp1 HG01361.hp1 others(38): Show |
intron_variant | MODIFIER | c.953-11504T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128420303 | ||||||
| chr5:128420620
|
C | T | 3 | a0004c0005t0001g0197a0004c0005t0001g0198a0004c0005t0001g0199 | 3 | NA18956.hp2 NA18977.hp2 NA19077.hp1 |
intron_variant | MODIFIER | c.953-11821G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128420620 | ||||||
| chr5:128420759
|
G | T | 1 | a0001c0001t0003g0002 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.953-11960C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128420759 | ||||||
| chr5:128420795
|
C | T | 2 | a0001c0001t0001g0162a0002c0002t0001g0132 | 2 | NA19011.hp1 NA19074.hp2 |
intron_variant | MODIFIER | c.953-11996G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128420795 | ||||||
| chr5:128421055
|
G | A | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.953-12256C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128421055 | ||||||
| chr5:128421136
|
A | G | 42 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(39): Show | 42 | HG00099.hp2 HG00741.hp1 HG01361.hp1 others(39): Show |
intron_variant | MODIFIER | c.953-12337T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128421136 | ||||||
| chr5:128421613
|
A | T | 1 | a0004c0005t0001g0209 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.953-12814T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128421613 | ||||||
| chr5:128421944
|
T | C | 1 | a0002c0023t0038g0235 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.953-13145A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128421944 | ||||||
| chr5:128422227
|
T | C | 1 | a0003c0004t0002g0089 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.953-13428A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128422227 | ||||||
| chr5:128422481
|
T | A | 1 | a0001c0008t0029g0117 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.953-13682A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128422481 | ||||||
| chr5:128422492
|
T | C | 7 | a0001c0008t0025g0115a0001c0011t0010g0104a0001c0011t0022g0061others(4): Show | 7 | HG02257.hp2 HG02572.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.953-13693A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128422492 | ||||||
| chr5:128422632
|
T | C | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.953-13833A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128422632 | ||||||
| chr5:128422745
|
A | G | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.953-13946T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128422745 | ||||||
| chr5:128422794
|
C | A | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.953-13995G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128422794 | ||||||
| chr5:128422806
|
T | C | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.953-14007A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128422806 | ||||||
| chr5:128422920
|
A | C | 1 | a0001c0003t0032g0141 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.953-14121T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128422920 | ||||||
| chr5:128422925
|
G | T | 1 | a0017c0061t0031g0169 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.953-14126C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128422925 | ||||||
| chr5:128423132
|
GA | G | 25 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(22): Show | 25 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(22): Show |
intron_variant | MODIFIER | c.953-14334delT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128423132 | ||||||
| chr5:128423254
|
G | A | 1 | a0001c0011t0009g0065 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.953-14455C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128423254 | ||||||
| chr5:128424085
|
G | A | 95 | a0001c0001t0001g0172a0001c0001t0001g0175a0001c0001t0001g0184others(92): Show | 95 | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(92): Show |
intron_variant | MODIFIER | c.953-15286C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128424085 | ||||||
| chr5:128424501
|
T | G | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.953-15702A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128424501 | ||||||
| chr5:128424523
|
T | C | 1 | a0001c0003t0006g0060 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.953-15724A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128424523 | ||||||
| chr5:128424559
|
AAT | A | 34 | a0001c0001t0001g0162a0001c0001t0001g0227a0001c0001t0001g0229others(31): Show | 34 | HG00558.hp1 HG01074.hp2 HG01975.hp1 others(31): Show |
intron_variant | MODIFIER | c.953-15762_953-1576 others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128424559 | ||||||
| chr5:128424659
|
T | A | 1 | a0004c0005t0001g0191 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.953-15860A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128424659 | ||||||
| chr5:128424737
|
G | C | 1 | a0001c0001t0002g0082 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.953-15938C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128424737 | ||||||
| chr5:128424737
|
G | T | 1 | a0001c0048t0001g0120 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.953-15938C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128424737 | ||||||
| chr5:128425010
|
C | G | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.953-16211G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128425010 | ||||||
| chr5:128425016
|
C | CT | 5 | a0001c0003t0001g0179a0002c0032t0009g0039a0002c0034t0004g0038others(2): Show | 5 | HG02109.hp2 HG02970.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.953-16218dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128425016 | ||||||
| chr5:128425016
|
CT | C | 73 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(70): Show | 73 | HG00140.hp1 HG01069.hp1 HG01071.hp1 others(70): Show |
intron_variant | MODIFIER | c.953-16218delA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128425016 | ||||||
| chr5:128425028
|
T | C | 1 | a0003c0004t0001g0160 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.953-16229A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128425028 | ||||||
| chr5:128425055
|
G | A | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.953-16256C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128425055 | ||||||
| chr5:128425120
|
A | G | 5 | a0001c0001t0005g0087a0001c0008t0006g0023a0001c0028t0002g0022others(2): Show | 5 | HG02145.hp2 HG02818.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.953-16321T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128425120 | ||||||
| chr5:128425127
|
C | A | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.953-16328G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128425127 | ||||||
| chr5:128425367
|
T | C | 25 | a0001c0001t0001g0175a0001c0001t0001g0184a0001c0001t0001g0186others(22): Show | 25 | HG00099.hp1 HG00609.hp1 HG00735.hp1 others(22): Show |
intron_variant | MODIFIER | c.953-16568A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128425367 | ||||||
| chr5:128425407
|
G | A | 1 | a0001c0003t0017g0004 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.953-16608C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128425407 | ||||||
| chr5:128425606
|
T | C | 3 | a0001c0001t0013g0110a0001c0001t0013g0111a0002c0002t0001g0125 | 3 | HG01516.hp1 HG01952.hp2 HG01975.hp2 |
intron_variant | MODIFIER | c.953-16807A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128425606 | ||||||
| chr5:128425725
|
A | G | 46 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(43): Show | 46 | HG00140.hp1 HG01069.hp1 HG01071.hp1 others(43): Show |
intron_variant | MODIFIER | c.953-16926T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128425725 | ||||||
| chr5:128425817
|
C | T | 42 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(39): Show | 42 | HG00099.hp2 HG00741.hp1 HG01361.hp1 others(39): Show |
intron_variant | MODIFIER | c.953-17018G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128425817 | ||||||
| chr5:128426023
|
G | C | 1 | a0001c0003t0032g0141 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.953-17224C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128426023 | ||||||
| chr5:128426399
|
C | T | 1 | a0002c0002t0001g0161 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.953-17600G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128426399 | ||||||
| chr5:128426401
|
A | G | 2 | a0001c0003t0005g0100a0002c0015t0008g0024 | 2 | HG03139.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.953-17602T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128426401 | ||||||
| chr5:128426418
|
A | T | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.953-17619T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128426418 | ||||||
| chr5:128426459
|
G | A | 1 | a0001c0003t0005g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.953-17660C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128426459 | ||||||
| chr5:128426486
|
T | C | 1 | a0001c0009t0006g0028 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.953-17687A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128426486 | ||||||
| chr5:128426690
|
G | A | 1 | a0001c0058t0020g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.953-17891C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128426690 | ||||||
| chr5:128426796
|
C | T | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.953-17997G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128426796 | ||||||
| chr5:128426958
|
G | A | 1 | a0007c0022t0001g0131 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.953-18159C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128426958 | ||||||
| chr5:128426960
|
C | T | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.953-18161G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128426960 | ||||||
| chr5:128426991
|
C | T | 1 | a0022c0066t0021g0101 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.953-18192G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128426991 | ||||||
| chr5:128427063
|
C | G | 5 | a0003c0006t0004g0044a0003c0006t0004g0045a0003c0006t0004g0047others(2): Show | 5 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(2): Show |
intron_variant | MODIFIER | c.953-18264G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128427063 | ||||||
| chr5:128427129
|
C | G | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.953-18330G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128427129 | ||||||
| chr5:128427188
|
C | G | 2 | a0001c0011t0022g0061a0001c0014t0014g0114 | 2 | HG02572.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.953-18389G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128427188 | ||||||
| chr5:128427238
|
C | T | 42 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(39): Show | 42 | HG00099.hp2 HG00741.hp1 HG01361.hp1 others(39): Show |
intron_variant | MODIFIER | c.953-18439G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128427238 | ||||||
| chr5:128427358
|
C | T | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.953-18559G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128427358 | ||||||
| chr5:128427361
|
T | TA | 18 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(15): Show | 18 | HG00741.hp1 HG01516.hp2 HG02129.hp1 others(15): Show |
intron_variant | MODIFIER | c.953-18563dupT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128427361 | ||||||
| chr5:128427397
|
G | A | 1 | a0002c0002t0001g0165 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.953-18598C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128427397 | ||||||
| chr5:128427455
|
A | T | 4 | a0003c0044t0004g0053a0018c0030t0008g0021a0020c0043t0019g0018others(1): Show | 4 | HG01496.hp1 HG02055.hp2 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.953-18656T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128427455 | ||||||
| chr5:128427594
|
C | T | 1 | a0003c0004t0033g0128 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.953-18795G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128427594 | ||||||
| chr5:128427601
|
A | G | 2 | a0004c0005t0001g0192a0004c0005t0001g0200 | 2 | HG00099.hp2 HG02109.hp1 |
intron_variant | MODIFIER | c.953-18802T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128427601 | ||||||
| chr5:128427724
|
T | C | 1 | a0002c0002t0001g0217 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.952+18757A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128427724 | ||||||
| chr5:128427741
|
T | C | 1 | a0003c0006t0004g0046 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.952+18740A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128427741 | ||||||
| chr5:128427777
|
G | A | 95 | a0001c0001t0001g0172a0001c0001t0001g0175a0001c0001t0001g0184others(92): Show | 95 | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(92): Show |
intron_variant | MODIFIER | c.952+18704C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128427777 | ||||||
| chr5:128427794
|
G | A | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.952+18687C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128427794 | ||||||
| chr5:128427846
|
T | C | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.952+18635A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128427846 | ||||||
| chr5:128428042
|
C | G | 1 | a0004c0005t0001g0205 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.952+18439G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128428042 | ||||||
| chr5:128428314
|
G | C | 1 | a0005c0017t0003g0008 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.952+18167C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128428314 | ||||||
| chr5:128428518
|
T | C | 4 | a0003c0012t0001g0138a0003c0012t0001g0139a0003c0012t0001g0187others(1): Show | 4 | HG01192.hp2 HG01256.hp1 HG01258.hp2 others(1): Show |
intron_variant | MODIFIER | c.952+17963A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128428518 | ||||||
| chr5:128428594
|
C | G | 3 | a0003c0004t0002g0063a0003c0004t0002g0064a0003c0004t0005g0062 | 3 | HG02896.hp1 HG03579.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.952+17887G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128428594 | ||||||
| chr5:128428826
|
G | T | 1 | a0027c0027t0008g0020 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.952+17655C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128428826 | ||||||
| chr5:128428948
|
T | C | 42 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(39): Show | 42 | HG00099.hp2 HG00741.hp1 HG01361.hp1 others(39): Show |
intron_variant | MODIFIER | c.952+17533A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128428948 | ||||||
| chr5:128428986
|
T | A | 1 | a0001c0001t0001g0150 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.952+17495A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128428986 | ||||||
| chr5:128429214
|
A | G | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.952+17267T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128429214 | ||||||
| chr5:128429296
|
C | A | 1 | a0001c0001t0001g0157 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.952+17185G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128429296 | ||||||
| chr5:128429573
|
C | T | 1 | a0006c0025t0009g0091 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.952+16908G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128429573 | ||||||
| chr5:128429583
|
T | C | 1 | a0026c0070t0002g0105 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.952+16898A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128429583 | ||||||
| chr5:128429661
|
A | G | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.952+16820T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128429661 | ||||||
| chr5:128429777
|
G | C | 1 | a0002c0059t0005g0092 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.952+16704C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128429777 | ||||||
| chr5:128429901
|
A | C | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.952+16580T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128429901 | ||||||
| chr5:128429961
|
C | A | 1 | a0021c0067t0004g0098 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.952+16520G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128429961 | ||||||
| chr5:128430545
|
T | C | 3 | a0003c0004t0002g0088a0003c0004t0002g0089a0003c0010t0005g0094 | 3 | HG01884.hp1 HG02055.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.952+15936A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128430545 | ||||||
| chr5:128430615
|
G | A | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.952+15866C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128430615 | ||||||
| chr5:128430777
|
G | A | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.952+15704C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128430777 | ||||||
| chr5:128430851
|
A | AAAAT | 6 | a0001c0001t0001g0142a0001c0001t0001g0146a0001c0001t0001g0152others(3): Show | 6 | HG00735.hp2 HG01109.hp1 HG01981.hp1 others(3): Show |
intron_variant | MODIFIER | c.952+15626_952+1562 others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128430851 | ||||||
| chr5:128430851
|
AAAAT | A | 34 | a0001c0001t0001g0127a0001c0001t0001g0154a0001c0001t0001g0162others(31): Show | 34 | HG00558.hp1 HG00609.hp2 HG01069.hp2 others(31): Show |
intron_variant | MODIFIER | c.952+15626_952+1562 others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128430851 | ||||||
| chr5:128430851
|
AAAATAAA others(1): Show |
A | 12 | a0001c0001t0001g0227a0001c0001t0001g0229a0001c0014t0014g0112others(9): Show | 12 | HG01975.hp1 HG02083.hp2 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.952+15622_952+1562 others(12): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128430851 | ||||||
| chr5:128430851
|
AAAATAAA others(5): Show |
A | 151 | a0001c0001t0001g0172a0001c0001t0001g0175a0001c0001t0001g0184others(148): Show | 151 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
intron_variant | MODIFIER | c.952+15618_952+1562 others(16): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128430851 | ||||||
| chr5:128430851
|
AAAATAAA others(9): Show |
A | 2 | a0002c0002t0001g0125a0008c0063t0012g0096 | 2 | HG01975.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.952+15614_952+1562 others(20): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128430851 | ||||||
| chr5:128430851
|
AAAATAAA others(13): Show |
A | 1 | a0003c0006t0004g0047 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.952+15610_952+1562 others(24): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128430851 | ||||||
| chr5:128430875
|
T | C | 1 | a0001c0001t0003g0011 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.952+15606A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128430875 | ||||||
| chr5:128431038
|
T | G | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.952+15443A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128431038 | ||||||
| chr5:128431209
|
G | A | 14 | a0001c0009t0002g0049a0003c0006t0004g0042a0003c0006t0004g0044others(11): Show | 14 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(11): Show |
intron_variant | MODIFIER | c.952+15272C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128431209 | ||||||
| chr5:128431319
|
C | CT | 42 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(39): Show | 42 | HG00099.hp2 HG00741.hp1 HG01361.hp1 others(39): Show |
intron_variant | MODIFIER | c.952+15161dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128431319 | ||||||
| chr5:128431367
|
T | C | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.952+15114A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128431367 | ||||||
| chr5:128431410
|
T | C | 167 | a0001c0001t0001g0172a0001c0001t0001g0175a0001c0001t0001g0184others(164): Show | 167 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(164): Show |
intron_variant | MODIFIER | c.952+15071A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128431410 | ||||||
| chr5:128431506
|
A | G | 42 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(39): Show | 42 | HG00099.hp2 HG00741.hp1 HG01361.hp1 others(39): Show |
intron_variant | MODIFIER | c.952+14975T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128431506 | ||||||
| chr5:128431543
|
G | C | 1 | a0001c0001t0001g0153 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.952+14938C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128431543 | ||||||
| chr5:128431558
|
A | C | 2 | a0002c0002t0005g0086a0002c0023t0038g0235 | 2 | HG00639.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.952+14923T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128431558 | ||||||
| chr5:128431896
|
C | T | 1 | a0003c0013t0016g0003 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.952+14585G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128431896 | ||||||
| chr5:128431912
|
T | C | 1 | a0001c0003t0001g0181 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.952+14569A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128431912 | ||||||
| chr5:128432161
|
A | G | 1 | a0001c0003t0001g0173 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.952+14320T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128432161 | ||||||
| chr5:128432282
|
C | A | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.952+14199G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128432282 | ||||||
| chr5:128432307
|
A | G | 1 | a0001c0001t0002g0082 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.952+14174T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128432307 | ||||||
| chr5:128432664
|
C | T | 30 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(27): Show | 30 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(27): Show |
intron_variant | MODIFIER | c.952+13817G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128432664 | ||||||
| chr5:128432758
|
T | A | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.952+13723A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128432758 | ||||||
| chr5:128432908
|
C | T | 29 | a0001c0001t0001g0175a0001c0001t0001g0184a0001c0001t0001g0186others(26): Show | 29 | HG00099.hp1 HG00609.hp1 HG00735.hp1 others(26): Show |
intron_variant | MODIFIER | c.952+13573G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128432908 | ||||||
| chr5:128433157
|
G | T | 5 | a0001c0008t0028g0113a0001c0035t0009g0036a0001c0045t0006g0026others(2): Show | 5 | HG02559.hp1 HG02630.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.952+13324C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128433157 | ||||||
| chr5:128433614
|
G | A | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.952+12867C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128433614 | ||||||
| chr5:128433724
|
G | A | 19 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(16): Show | 19 | HG01516.hp1 HG01952.hp2 HG01975.hp2 others(16): Show |
intron_variant | MODIFIER | c.952+12757C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128433724 | ||||||
| chr5:128433857
|
G | C | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.952+12624C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128433857 | ||||||
| chr5:128434019
|
C | T | 29 | a0001c0001t0001g0175a0001c0001t0001g0184a0001c0001t0001g0186others(26): Show | 29 | HG00099.hp1 HG00609.hp1 HG00735.hp1 others(26): Show |
intron_variant | MODIFIER | c.952+12462G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434019 | ||||||
| chr5:128434191
|
T | C | 1 | a0025c0069t0005g0109 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.952+12290A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434191 | ||||||
| chr5:128434341
|
A | G | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.952+12140T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434341 | ||||||
| chr5:128434394
|
G | GTA | 21 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0153others(18): Show | 21 | HG00140.hp2 HG00323.hp1 HG00558.hp1 others(18): Show |
intron_variant | MODIFIER | c.952+12085_952+1208 others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATA | 11 | a0002c0002t0001g0130a0002c0002t0001g0135a0002c0002t0001g0161others(8): Show | 11 | HG00558.hp2 HG01074.hp2 HG02155.hp1 others(8): Show |
intron_variant | MODIFIER | c.952+12083_952+1208 others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATA | 6 | a0001c0001t0001g0159a0001c0001t0001g0229a0002c0002t0001g0211others(3): Show | 6 | HG01975.hp1 HG03654.hp2 NA18956.hp1 others(3): Show |
intron_variant | MODIFIER | c.952+12081_952+1208 others(10): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(1): Show |
2 | a0002c0002t0001g0210a0002c0002t0001g0221 | 2 | HG02523.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.952+12079_952+1208 others(12): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(3): Show |
4 | a0001c0001t0001g0142a0001c0001t0001g0164a0001c0021t0001g0206others(1): Show | 4 | HG00323.hp2 HG01346.hp1 HG01981.hp1 others(1): Show |
intron_variant | MODIFIER | c.952+12077_952+1208 others(14): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(7): Show |
1 | a0002c0034t0004g0038 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.952+12073_952+1208 others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(9): Show |
4 | a0001c0001t0005g0087a0002c0039t0005g0031a0002c0041t0011g0029others(1): Show | 4 | HG02155.hp2 HG02647.hp1 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.952+12071_952+1208 others(20): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(11): Show |
9 | a0001c0001t0001g0127a0001c0001t0001g0172a0001c0001t0030g0119others(6): Show | 9 | HG01978.hp2 HG02559.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.952+12069_952+1208 others(22): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(13): Show |
7 | a0001c0003t0001g0201a0002c0032t0009g0039a0004c0005t0001g0192others(4): Show | 7 | HG00099.hp2 HG01361.hp1 HG02109.hp1 others(4): Show |
intron_variant | MODIFIER | c.952+12067_952+1208 others(24): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(15): Show |
8 | a0001c0001t0002g0076a0001c0003t0001g0204a0001c0028t0002g0022others(5): Show | 8 | HG02145.hp2 HG02698.hp1 HG03471.hp2 others(5): Show |
intron_variant | MODIFIER | c.952+12065_952+1208 others(26): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(17): Show |
5 | a0001c0008t0028g0113a0004c0005t0001g0195a0004c0005t0001g0196others(2): Show | 5 | HG02630.hp1 HG03540.hp1 NA18967.hp2 others(2): Show |
intron_variant | MODIFIER | c.952+12063_952+1208 others(28): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(19): Show |
3 | a0001c0050t0001g0208a0004c0005t0001g0197a0004c0005t0001g0232 | 3 | HG04204.hp1 NA18977.hp2 NA19056.hp2 |
intron_variant | MODIFIER | c.952+12061_952+1208 others(30): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(23): Show |
1 | a0001c0008t0006g0023 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.952+12057_952+1208 others(34): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(19): Show |
9 | a0001c0001t0002g0071a0001c0001t0002g0073a0001c0001t0002g0079others(6): Show | 9 | HG01884.hp1 HG02055.hp1 HG02083.hp1 others(6): Show |
intron_variant | MODIFIER | c.952+12086_952+1208 others(30): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(21): Show |
2 | a0001c0052t0002g0081a0003c0064t0004g0080 | 2 | NA18977.hp1 NA18992.hp2 |
intron_variant | MODIFIER | c.952+12086_952+1208 others(32): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(23): Show |
3 | a0001c0011t0009g0065a0008c0063t0012g0096a0018c0030t0008g0021 | 3 | HG02559.hp2 HG02965.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.952+12086_952+1208 others(34): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(25): Show |
4 | a0002c0023t0038g0235a0003c0004t0001g0124a0003c0004t0001g0129others(1): Show | 4 | HG01361.hp2 HG02258.hp2 HG02280.hp2 others(1): Show |
intron_variant | MODIFIER | c.952+12086_952+1208 others(36): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(27): Show |
8 | a0001c0001t0002g0075a0001c0058t0020g0019a0002c0002t0005g0102others(5): Show | 8 | HG01192.hp2 HG02572.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.952+12086_952+1208 others(38): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(29): Show |
9 | a0001c0001t0002g0077a0001c0003t0006g0060a0002c0037t0023g0034others(6): Show | 9 | HG01069.hp1 HG01071.hp1 HG01081.hp2 others(6): Show |
intron_variant | MODIFIER | c.952+12086_952+1208 others(40): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(31): Show |
3 | a0001c0001t0002g0072a0001c0033t0005g0037a0003c0004t0002g0083 | 3 | HG02809.hp2 HG04199.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.952+12086_952+1208 others(42): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(33): Show |
6 | a0001c0001t0013g0111a0002c0002t0005g0086a0002c0055t0008g0093others(3): Show | 6 | HG00639.hp1 HG01258.hp2 HG01516.hp1 others(3): Show |
intron_variant | MODIFIER | c.952+12086_952+1208 others(44): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(35): Show |
3 | a0001c0001t0013g0110a0002c0002t0001g0125a0003c0007t0002g0033 | 3 | HG01952.hp2 HG01975.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.952+12086_952+1208 others(46): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(37): Show |
2 | a0002c0023t0007g0121a0003c0007t0005g0052 | 2 | HG02895.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.952+12086_952+1208 others(48): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(39): Show |
2 | a0003c0007t0006g0057a0020c0043t0019g0018 | 2 | HG01496.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.952+12086_952+1208 others(50): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(59): Show |
1 | a0001c0036t0004g0032 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.952+12086_952+1208 others(70): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(27): Show |
1 | a0021c0067t0004g0098 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.952+12086_952+1208 others(38): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTATATAT others(29): Show |
1 | a0001c0003t0001g0140 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.952+12086_952+1208 others(40): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTGTA | 2 | a0002c0002t0034g0167a0002c0002t0035g0133 | 2 | NA18998.hp2 NA19063.hp2 |
intron_variant | MODIFIER | c.952+12086_952+1208 others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTGTATAT others(17): Show |
1 | a0002c0029t0027g0118 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.952+12086_952+1208 others(28): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
G | GTGTATAT others(19): Show |
1 | a0001c0054t0001g0194 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.952+12086_952+1208 others(30): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
GTATATAT others(3): Show |
G | 30 | a0001c0001t0001g0175a0001c0001t0001g0184a0001c0001t0001g0186others(27): Show | 30 | HG00099.hp1 HG00609.hp1 HG00735.hp1 others(27): Show |
intron_variant | MODIFIER | c.952+12077_952+1208 others(14): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434394
|
GTATATAT others(9): Show |
G | 18 | a0001c0001t0002g0082a0001c0001t0003g0002a0001c0001t0003g0013others(15): Show | 18 | HG00741.hp1 HG01516.hp2 HG02129.hp1 others(15): Show |
intron_variant | MODIFIER | c.952+12071_952+1208 others(20): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434394 | ||||||
| chr5:128434396
|
A | ATATATAT others(5): Show |
1 | a0001c0001t0002g0070 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.952+12084_952+1208 others(16): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434396 | ||||||
| chr5:128434398
|
A | ATATATAT others(3): Show |
1 | a0003c0004t0036g0233 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.952+12082_952+1208 others(14): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434398 | ||||||
| chr5:128434413
|
T | C | 1 | a0002c0023t0007g0121 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.952+12068A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434413 | ||||||
| chr5:128434418
|
A | G | 29 | a0001c0001t0001g0175a0001c0001t0001g0184a0001c0001t0001g0186others(26): Show | 29 | HG00099.hp1 HG00609.hp1 HG00735.hp1 others(26): Show |
intron_variant | MODIFIER | c.952+12063T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434418 | ||||||
| chr5:128434422
|
A | G | 15 | a0001c0003t0006g0060a0001c0011t0009g0065a0001c0033t0005g0037others(12): Show | 15 | HG00639.hp1 HG01496.hp1 HG01884.hp2 others(12): Show |
intron_variant | MODIFIER | c.952+12059T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434422 | ||||||
| chr5:128434424
|
A | ATATATAT others(23): Show |
1 | a0003c0006t0004g0050 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.952+12056_952+1205 others(34): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434424 | ||||||
| chr5:128434424
|
A | ATATATAT others(21): Show |
4 | a0001c0003t0005g0100a0001c0009t0006g0028a0003c0006t0004g0044others(1): Show | 4 | HG01256.hp2 HG01258.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.952+12056_952+1205 others(32): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434424 | ||||||
| chr5:128434424
|
A | ATATATAT others(19): Show |
3 | a0001c0014t0014g0112a0001c0031t0026g0116a0003c0006t0004g0047 | 3 | HG01496.hp2 HG02647.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.952+12056_952+1205 others(30): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434424 | ||||||
| chr5:128434424
|
A | ATATATAT others(17): Show |
8 | a0001c0008t0025g0115a0001c0009t0002g0040a0001c0009t0002g0049others(5): Show | 8 | HG01346.hp2 HG01358.hp2 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.952+12056_952+1205 others(28): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434424 | ||||||
| chr5:128434424
|
A | ATATATAT others(15): Show |
5 | a0001c0009t0006g0030a0001c0014t0014g0114a0003c0006t0004g0048others(2): Show | 5 | HG02717.hp2 HG02970.hp1 NA18990.hp1 others(2): Show |
intron_variant | MODIFIER | c.952+12056_952+1205 others(26): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434424 | ||||||
| chr5:128434424
|
A | ATATATAT others(13): Show |
2 | a0002c0015t0008g0024a0003c0006t0004g0046 | 2 | NA18906.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.952+12056_952+1205 others(24): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434424 | ||||||
| chr5:128434424
|
A | ATATATAT others(7): Show |
1 | a0003c0016t0002g0043 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.952+12056_952+1205 others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434424 | ||||||
| chr5:128434424
|
A | G | 1 | a0002c0029t0027g0118 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.952+12057T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434424 | ||||||
| chr5:128434426
|
G | A | 4 | a0003c0004t0002g0088a0003c0004t0002g0089a0003c0010t0005g0094others(1): Show | 4 | HG01884.hp1 HG02055.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.952+12055C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434426 | ||||||
| chr5:128434612
|
C | T | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.952+11869G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434612 | ||||||
| chr5:128434669
|
A | G | 18 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(15): Show | 18 | HG00741.hp1 HG01516.hp2 HG02129.hp1 others(15): Show |
intron_variant | MODIFIER | c.952+11812T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434669 | ||||||
| chr5:128434768
|
A | G | 1 | a0023c0051t0003g0005 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.952+11713T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128434768 | ||||||
| chr5:128435112
|
G | C | 25 | a0001c0001t0001g0175a0001c0001t0001g0184a0001c0001t0001g0186others(22): Show | 25 | HG00099.hp1 HG00609.hp1 HG00735.hp1 others(22): Show |
intron_variant | MODIFIER | c.952+11369C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128435112 | ||||||
| chr5:128435278
|
A | C | 3 | a0012c0026t0002g0107a0012c0026t0002g0108a0024c0068t0002g0106 | 3 | HG01516.hp2 HG02257.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.952+11203T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128435278 | ||||||
| chr5:128435294
|
T | C | 1 | a0020c0043t0019g0018 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.952+11187A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128435294 | ||||||
| chr5:128435444
|
C | A | 42 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(39): Show | 42 | HG00099.hp2 HG00741.hp1 HG01361.hp1 others(39): Show |
intron_variant | MODIFIER | c.952+11037G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128435444 | ||||||
| chr5:128435510
|
T | C | 1 | a0001c0003t0001g0230 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.952+10971A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128435510 | ||||||
| chr5:128435539
|
C | T | 1 | a0022c0066t0021g0101 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.952+10942G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128435539 | ||||||
| chr5:128435725
|
T | G | 46 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(43): Show | 46 | HG00140.hp1 HG01069.hp1 HG01071.hp1 others(43): Show |
intron_variant | MODIFIER | c.952+10756A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128435725 | ||||||
| chr5:128435728
|
G | A | 1 | a0025c0069t0005g0109 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.952+10753C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128435728 | ||||||
| chr5:128436268
|
G | A | 1 | a0004c0005t0002g0069 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.952+10213C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436268 | ||||||
| chr5:128436290
|
T | G | 18 | a0001c0003t0001g0201a0001c0003t0001g0204a0001c0050t0001g0208others(15): Show | 18 | HG00099.hp2 HG01361.hp1 HG02109.hp1 others(15): Show |
intron_variant | MODIFIER | c.952+10191A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436290 | ||||||
| chr5:128436294
|
G | A | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.952+10187C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436294 | ||||||
| chr5:128436319
|
G | A | 9 | a0001c0011t0009g0065a0001c0033t0005g0037a0001c0036t0004g0032others(6): Show | 9 | HG00639.hp1 HG01884.hp2 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.952+10162C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436319 | ||||||
| chr5:128436330
|
A | C | 1 | a0001c0001t0003g0013 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.952+10151T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436330 | ||||||
| chr5:128436387
|
T | C | 167 | a0001c0001t0001g0172a0001c0001t0001g0175a0001c0001t0001g0184others(164): Show | 167 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(164): Show |
intron_variant | MODIFIER | c.952+10094A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436387 | ||||||
| chr5:128436422
|
G | A | 216 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(213): Show | 216 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(213): Show |
intron_variant | MODIFIER | c.952+10059C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436422 | ||||||
| chr5:128436470
|
T | C | 1 | a0001c0001t0001g0229 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.952+10011A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436470 | ||||||
| chr5:128436481
|
C | T | 1 | a0001c0011t0010g0104 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.952+10000G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436481 | ||||||
| chr5:128436517
|
T | C | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.952+9964A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436517 | ||||||
| chr5:128436608
|
T | C | 1 | a0014c0053t0039g0236 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.952+9873A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436608 | ||||||
| chr5:128436665
|
T | TA | 2 | a0003c0006t0004g0046a0013c0047t0002g0059 | 2 | NA18964.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.952+9815_952+9816i others(3): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436665 | ||||||
| chr5:128436666
|
T | A | 30 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(27): Show | 30 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(27): Show |
intron_variant | MODIFIER | c.952+9815A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436666 | ||||||
| chr5:128436666
|
T | TA | 24 | a0001c0001t0001g0175a0001c0001t0001g0184a0001c0001t0001g0186others(21): Show | 24 | HG00099.hp1 HG00609.hp1 HG00735.hp1 others(21): Show |
intron_variant | MODIFIER | c.952+9814dupT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436666 | ||||||
| chr5:128436666
|
TA | T | 5 | a0001c0001t0001g0147a0001c0021t0001g0206a0002c0002t0001g0212others(2): Show | 5 | HG00323.hp1 HG00323.hp2 HG01256.hp1 others(2): Show |
intron_variant | MODIFIER | c.952+9814delT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436666 | ||||||
| chr5:128436676
|
A | G | 1 | a0001c0048t0001g0120 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.952+9805T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436676 | ||||||
| chr5:128436682
|
GA | G | 5 | a0001c0008t0028g0113a0001c0035t0009g0036a0001c0045t0006g0026others(2): Show | 5 | HG02559.hp1 HG02630.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.952+9798delT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436682 | ||||||
| chr5:128436888
|
G | A | 1 | a0002c0002t0005g0102 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.952+9593C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436888 | ||||||
| chr5:128436914
|
C | T | 1 | a0003c0004t0033g0128 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.952+9567G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436914 | ||||||
| chr5:128436928
|
C | T | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.952+9553G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436928 | ||||||
| chr5:128436950
|
C | G | 1 | a0001c0001t0003g0014 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.952+9531G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436950 | ||||||
| chr5:128436951
|
C | T | 5 | a0001c0008t0028g0113a0001c0035t0009g0036a0001c0045t0006g0026others(2): Show | 5 | HG02559.hp1 HG02630.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.952+9530G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128436951 | ||||||
| chr5:128437361
|
T | C | 1 | a0012c0026t0002g0107 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.952+9120A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128437361 | ||||||
| chr5:128437450
|
T | A | 9 | a0001c0003t0001g0140a0003c0004t0001g0124a0003c0004t0001g0129others(6): Show | 9 | HG00140.hp1 HG01192.hp2 HG01256.hp1 others(6): Show |
intron_variant | MODIFIER | c.952+9031A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128437450 | ||||||
| chr5:128437470
|
A | T | 66 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(63): Show | 66 | HG00140.hp1 HG00639.hp1 HG01069.hp1 others(63): Show |
intron_variant | MODIFIER | c.952+9011T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128437470 | ||||||
| chr5:128437515
|
G | A | 2 | a0003c0007t0006g0057a0003c0007t0006g0058 | 2 | HG03041.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.952+8966C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128437515 | ||||||
| chr5:128437742
|
T | C | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.952+8739A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128437742 | ||||||
| chr5:128437773
|
T | TATAG | 2 | a0002c0002t0001g0168a0003c0004t0002g0064 | 2 | NA18522.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.952+8704_952+8707d others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128437773 | ||||||
| chr5:128437773
|
TATAG | T | 50 | a0001c0001t0001g0126a0001c0001t0001g0142a0001c0001t0001g0147others(47): Show | 50 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(47): Show |
intron_variant | MODIFIER | c.952+8704_952+8707d others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128437773 | ||||||
| chr5:128437773
|
TATAGATA others(1): Show |
T | 58 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(55): Show | 58 | HG00099.hp1 HG00609.hp1 HG00735.hp1 others(55): Show |
intron_variant | MODIFIER | c.952+8700_952+8707d others(10): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128437773 | ||||||
| chr5:128437773
|
TATAGATA others(5): Show |
T | 38 | a0001c0001t0005g0087a0001c0003t0001g0140a0001c0003t0001g0181others(35): Show | 38 | HG00140.hp1 HG01081.hp2 HG01109.hp2 others(35): Show |
intron_variant | MODIFIER | c.952+8696_952+8707d others(14): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128437773 | ||||||
| chr5:128437773
|
TATAGATA others(9): Show |
T | 5 | a0003c0004t0002g0088a0003c0006t0004g0044a0003c0006t0004g0045others(2): Show | 5 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(2): Show |
intron_variant | MODIFIER | c.952+8692_952+8707d others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128437773 | ||||||
| chr5:128437773
|
TATAGATA others(13): Show |
T | 2 | a0002c0002t0005g0102a0002c0023t0007g0121 | 2 | HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.952+8688_952+8707d others(22): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128437773 | ||||||
| chr5:128437789
|
G | T | 1 | a0003c0016t0002g0043 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.952+8692C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128437789 | ||||||
| chr5:128437793
|
G | T | 1 | a0003c0006t0004g0046 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.952+8688C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128437793 | ||||||
| chr5:128437815
|
T | C | 5 | a0002c0002t0034g0167a0007c0022t0001g0216a0012c0026t0002g0107others(2): Show | 5 | HG01516.hp2 HG02257.hp1 HG03017.hp1 others(2): Show |
intron_variant | MODIFIER | c.952+8666A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128437815 | ||||||
| chr5:128437815
|
T | TAGAC | 2 | a0002c0002t0035g0133a0019c0046t0010g0027 | 2 | HG02559.hp1 NA18998.hp2 |
intron_variant | MODIFIER | c.952+8665_952+8666i others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128437815 | ||||||
| chr5:128437819
|
T | C | 73 | a0001c0001t0001g0127a0001c0001t0001g0164a0001c0001t0001g0231others(70): Show | 73 | HG00099.hp2 HG00558.hp1 HG00639.hp1 others(70): Show |
intron_variant | MODIFIER | c.952+8662A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128437819 | ||||||
| chr5:128437819
|
T | TAGAC | 11 | a0001c0001t0001g0162a0001c0001t0001g0227a0001c0001t0001g0229others(8): Show | 11 | HG01361.hp1 HG01975.hp1 HG02083.hp2 others(8): Show |
intron_variant | MODIFIER | c.952+8658_952+8661d others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128437819 | ||||||
| chr5:128437819
|
T | TAGACAGA others(1): Show |
2 | a0001c0045t0006g0026a0002c0002t0001g0220 | 2 | HG02155.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.952+8654_952+8661d others(10): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128437819 | ||||||
| chr5:128437819
|
T | TAGACAGA others(5): Show |
1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.952+8650_952+8661d others(14): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128437819 | ||||||
| chr5:128437819
|
T | TAGATAGA others(1): Show |
2 | a0001c0001t0003g0013a0004c0005t0001g0193 | 2 | HG02155.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.952+8661_952+8662i others(10): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128437819 | ||||||
| chr5:128438009
|
C | T | 66 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(63): Show | 66 | HG00140.hp1 HG00639.hp1 HG01069.hp1 others(63): Show |
intron_variant | MODIFIER | c.952+8472G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128438009 | ||||||
| chr5:128438069
|
C | G | 1 | a0001c0003t0001g0173 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.952+8412G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128438069 | ||||||
| chr5:128438129
|
C | T | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.952+8352G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128438129 | ||||||
| chr5:128438280
|
G | A | 1 | a0002c0040t0002g0041 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.952+8201C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128438280 | ||||||
| chr5:128438290
|
G | A | 7 | a0002c0002t0001g0212a0002c0002t0001g0213a0002c0002t0001g0217others(4): Show | 7 | HG02523.hp2 NA18949.hp2 NA18975.hp1 others(4): Show |
intron_variant | MODIFIER | c.952+8191C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128438290 | ||||||
| chr5:128438386
|
T | C | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.952+8095A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128438386 | ||||||
| chr5:128438446
|
A | G | 42 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(39): Show | 42 | HG00099.hp2 HG00741.hp1 HG01361.hp1 others(39): Show |
intron_variant | MODIFIER | c.952+8035T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128438446 | ||||||
| chr5:128438486
|
C | T | 4 | a0001c0003t0005g0100a0001c0009t0006g0028a0001c0009t0006g0030others(1): Show | 4 | HG02717.hp2 HG03041.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.952+7995G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128438486 | ||||||
| chr5:128438651
|
A | T | 2 | a0001c0036t0004g0032a0003c0007t0002g0033 | 2 | HG01884.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.952+7830T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128438651 | ||||||
| chr5:128438687
|
A | C | 15 | a0001c0003t0006g0060a0001c0011t0009g0065a0001c0033t0005g0037others(12): Show | 15 | HG00639.hp1 HG01496.hp1 HG01884.hp2 others(12): Show |
intron_variant | MODIFIER | c.952+7794T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128438687 | ||||||
| chr5:128438919
|
T | C | 95 | a0001c0001t0001g0172a0001c0001t0001g0175a0001c0001t0001g0184others(92): Show | 95 | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(92): Show |
intron_variant | MODIFIER | c.952+7562A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128438919 | ||||||
| chr5:128438920
|
G | A | 1 | a0008c0063t0012g0096 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.952+7561C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128438920 | ||||||
| chr5:128440273
|
T | A | 1 | a0002c0002t0001g0219 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.952+6208A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128440273 | ||||||
| chr5:128440346
|
G | C | 2 | a0001c0003t0017g0004a0003c0013t0016g0003 | 2 | HG01074.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.952+6135C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128440346 | ||||||
| chr5:128440396
|
A | T | 1 | a0002c0002t0002g0078 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.952+6085T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128440396 | ||||||
| chr5:128440666
|
A | G | 5 | a0001c0001t0005g0087a0001c0008t0006g0023a0001c0028t0002g0022others(2): Show | 5 | HG02145.hp2 HG02818.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.952+5815T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128440666 | ||||||
| chr5:128440892
|
C | T | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.952+5589G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128440892 | ||||||
| chr5:128441311
|
C | T | 1 | a0001c0009t0006g0030 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.952+5170G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128441311 | ||||||
| chr5:128441668
|
G | A | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.952+4813C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128441668 | ||||||
| chr5:128441704
|
G | C | 41 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(38): Show | 41 | HG00099.hp2 HG00741.hp1 HG01361.hp1 others(38): Show |
intron_variant | MODIFIER | c.952+4777C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128441704 | ||||||
| chr5:128441770
|
G | A | 167 | a0001c0001t0001g0172a0001c0001t0001g0175a0001c0001t0001g0184others(164): Show | 167 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(164): Show |
intron_variant | MODIFIER | c.952+4711C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128441770 | ||||||
| chr5:128441914
|
T | C | 15 | a0001c0009t0002g0040a0001c0009t0002g0049a0003c0006t0004g0042others(12): Show | 15 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(12): Show |
intron_variant | MODIFIER | c.952+4567A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128441914 | ||||||
| chr5:128442235
|
A | G | 5 | a0001c0001t0001g0184a0001c0001t0001g0186a0001c0001t0001g0188others(2): Show | 5 | HG00099.hp1 HG01106.hp2 HG01192.hp1 others(2): Show |
intron_variant | MODIFIER | c.952+4246T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128442235 | ||||||
| chr5:128442285
|
T | C | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.952+4196A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128442285 | ||||||
| chr5:128442304
|
G | A | 42 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(39): Show | 42 | HG00099.hp2 HG00741.hp1 HG01361.hp1 others(39): Show |
intron_variant | MODIFIER | c.952+4177C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128442304 | ||||||
| chr5:128442476
|
A | G | 1 | a0002c0039t0005g0031 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.952+4005T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128442476 | ||||||
| chr5:128442735
|
A | G | 1 | a0002c0002t0005g0102 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.952+3746T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128442735 | ||||||
| chr5:128442764
|
C | G | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.952+3717G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128442764 | ||||||
| chr5:128443058
|
A | C | 3 | a0001c0011t0009g0065a0001c0033t0005g0037a0002c0055t0008g0093 | 3 | HG02559.hp2 NA18522.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.952+3423T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128443058 | ||||||
| chr5:128443117
|
T | A | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.952+3364A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128443117 | ||||||
| chr5:128443626
|
T | C | 1 | a0026c0070t0002g0105 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.952+2855A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128443626 | ||||||
| chr5:128443662
|
T | C | 1 | a0002c0023t0038g0235 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.952+2819A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128443662 | ||||||
| chr5:128443879
|
T | C | 2 | a0001c0003t0006g0060a0022c0066t0021g0101 | 2 | NA18906.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.952+2602A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128443879 | ||||||
| chr5:128444035
|
T | C | 1 | a0001c0011t0009g0065 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.952+2446A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128444035 | ||||||
| chr5:128444054
|
C | CT | 51 | a0001c0001t0001g0143a0001c0001t0001g0156a0001c0001t0001g0158others(48): Show | 51 | HG00140.hp1 HG00639.hp1 HG00741.hp2 others(48): Show |
intron_variant | MODIFIER | c.952+2426dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128444054 | ||||||
| chr5:128444054
|
C | CTT | 35 | a0001c0001t0001g0172a0001c0001t0002g0073a0001c0001t0002g0076others(32): Show | 35 | HG01069.hp1 HG01071.hp1 HG01081.hp2 others(32): Show |
intron_variant | MODIFIER | c.952+2425_952+2426d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128444054 | ||||||
| chr5:128444054
|
C | CTTT | 10 | a0001c0001t0002g0070a0001c0001t0005g0087a0001c0008t0006g0023others(7): Show | 10 | HG02055.hp1 HG02055.hp2 HG02056.hp1 others(7): Show |
intron_variant | MODIFIER | c.952+2424_952+2426d others(5): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128444054 | ||||||
| chr5:128444054
|
CT | C | 37 | a0001c0001t0001g0126a0001c0001t0003g0002a0001c0001t0003g0013others(34): Show | 37 | HG00099.hp2 HG00741.hp1 HG01361.hp1 others(34): Show |
intron_variant | MODIFIER | c.952+2426delA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128444054 | ||||||
| chr5:128444054
|
CTTTTTTT others(8): Show |
C | 15 | a0001c0009t0002g0040a0001c0009t0002g0049a0003c0006t0004g0042others(12): Show | 15 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(12): Show |
intron_variant | MODIFIER | c.952+2412_952+2426d others(17): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128444054 | ||||||
| chr5:128444148
|
C | T | 1 | a0025c0069t0005g0109 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.952+2333G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128444148 | ||||||
| chr5:128444173
|
C | T | 1 | a0001c0003t0032g0141 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.952+2308G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128444173 | ||||||
| chr5:128444197
|
C | A | 2 | a0001c0009t0006g0028a0001c0009t0006g0030 | 2 | HG02717.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.952+2284G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128444197 | ||||||
| chr5:128444221
|
C | T | 47 | a0001c0001t0001g0175a0001c0001t0001g0184a0001c0001t0001g0186others(44): Show | 47 | HG00099.hp1 HG00609.hp1 HG00735.hp1 others(44): Show |
intron_variant | MODIFIER | c.952+2260G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128444221 | ||||||
| chr5:128444351
|
C | T | 11 | a0001c0054t0001g0194a0004c0005t0001g0191a0004c0005t0001g0193others(8): Show | 11 | HG02155.hp2 NA18949.hp1 NA18951.hp2 others(8): Show |
intron_variant | MODIFIER | c.952+2130G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128444351 | ||||||
| chr5:128444531
|
C | T | 1 | a0002c0002t0002g0078 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.952+1950G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128444531 | ||||||
| chr5:128444651
|
A | G | 1 | a0004c0005t0001g0209 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.952+1830T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128444651 | ||||||
| chr5:128444653
|
G | A | 1 | a0020c0043t0019g0018 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.952+1828C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128444653 | ||||||
| chr5:128444666
|
C | T | 2 | a0002c0002t0034g0167a0002c0002t0035g0133 | 2 | NA18998.hp2 NA19063.hp2 |
intron_variant | MODIFIER | c.952+1815G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128444666 | ||||||
| chr5:128444765
|
A | T | 1 | a0002c0002t0005g0086 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.952+1716T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128444765 | ||||||
| chr5:128444767
|
A | G | 29 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(26): Show | 29 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(26): Show |
intron_variant | MODIFIER | c.952+1714T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128444767 | ||||||
| chr5:128445002
|
G | A | 1 | a0001c0001t0002g0071 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.952+1479C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128445002 | ||||||
| chr5:128445178
|
T | G | 1 | a0026c0070t0002g0105 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.952+1303A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128445178 | ||||||
| chr5:128445233
|
A | G | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.952+1248T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128445233 | ||||||
| chr5:128445289
|
A | T | 4 | a0001c0003t0005g0100a0001c0009t0006g0028a0001c0009t0006g0030others(1): Show | 4 | HG02717.hp2 HG03041.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.952+1192T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128445289 | ||||||
| chr5:128445412
|
C | T | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.952+1069G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128445412 | ||||||
| chr5:128445529
|
G | T | 1 | a0001c0001t0001g0146 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.952+952C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128445529 | ||||||
| chr5:128445580
|
A | G | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.952+901T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128445580 | ||||||
| chr5:128445730
|
C | T | 1 | a0001c0008t0029g0117 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.952+751G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128445730 | ||||||
| chr5:128446118
|
CAT | C | 26 | a0001c0003t0001g0140a0002c0059t0005g0092a0003c0004t0001g0124others(23): Show | 26 | HG00140.hp1 HG01069.hp1 HG01071.hp1 others(23): Show |
intron_variant | MODIFIER | c.952+361_952+362del others(2): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128446118 | ||||||
| chr5:128446164
|
C | T | 1 | a0027c0027t0008g0020 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.952+317G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128446164 | ||||||
| chr5:128446210
|
A | T | 1 | a0022c0066t0021g0101 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.952+271T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128446210 | ||||||
| chr5:128446309
|
C | A | 1 | a0003c0044t0004g0053 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.952+172G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128446309 | ||||||
| chr5:128446340
|
T | G | 14 | a0001c0009t0002g0049a0003c0006t0004g0042a0003c0006t0004g0044others(11): Show | 14 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(11): Show |
intron_variant | MODIFIER | c.952+141A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | 128446340 | ||||||
| chr5:128446869
|
C | A | 4 | a0002c0059t0005g0092a0003c0004t0002g0088a0003c0004t0002g0089others(1): Show | 4 | HG01081.hp2 HG01884.hp1 HG02055.hp1 others(1): Show |
intron_variant | MODIFIER | c.827-263G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128446869 | ||||||
| chr5:128446885
|
C | T | 3 | a0001c0011t0022g0061a0001c0014t0014g0112a0001c0014t0014g0114 | 3 | HG02572.hp1 HG02970.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.827-279G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128446885 | ||||||
| chr5:128446925
|
T | TC | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.827-320dupG | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128446925 | ||||||
| chr5:128447151
|
C | T | 2 | a0002c0039t0005g0031a0027c0027t0008g0020 | 2 | HG03209.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.827-545G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128447151 | ||||||
| chr5:128447179
|
T | C | 1 | a0003c0004t0002g0083 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.827-573A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128447179 | ||||||
| chr5:128447193
|
A | G | 2 | a0001c0001t0003g0013a0001c0001t0003g0014 | 2 | HG03834.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.827-587T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128447193 | ||||||
| chr5:128447247
|
C | G | 21 | a0001c0001t0001g0175a0001c0001t0001g0184a0001c0001t0001g0186others(18): Show | 21 | HG00099.hp1 HG00609.hp1 HG00735.hp1 others(18): Show |
intron_variant | MODIFIER | c.827-641G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128447247 | ||||||
| chr5:128447326
|
G | A | 1 | a0001c0003t0001g0204 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.827-720C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128447326 | ||||||
| chr5:128447380
|
C | T | 1 | a0005c0017t0003g0015 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.827-774G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128447380 | ||||||
| chr5:128447468
|
C | T | 1 | a0003c0004t0002g0088 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.827-862G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128447468 | ||||||
| chr5:128447476
|
G | A | 15 | a0001c0009t0002g0040a0001c0009t0002g0049a0003c0006t0004g0042others(12): Show | 15 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(12): Show |
intron_variant | MODIFIER | c.827-870C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128447476 | ||||||
| chr5:128447559
|
T | G | 7 | a0001c0003t0001g0140a0003c0004t0001g0124a0003c0004t0001g0129others(4): Show | 7 | HG01192.hp2 HG01256.hp1 HG01258.hp2 others(4): Show |
intron_variant | MODIFIER | c.827-953A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128447559 | ||||||
| chr5:128447611
|
G | C | 14 | a0001c0001t0001g0227a0001c0001t0001g0229a0002c0002t0001g0210others(11): Show | 14 | HG01975.hp1 HG02083.hp2 HG02155.hp1 others(11): Show |
intron_variant | MODIFIER | c.827-1005C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128447611 | ||||||
| chr5:128447698
|
C | T | 1 | a0001c0001t0013g0110 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.827-1092G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128447698 | ||||||
| chr5:128447854
|
C | G | 17 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(14): Show | 17 | HG00741.hp1 HG01516.hp2 HG02129.hp1 others(14): Show |
intron_variant | MODIFIER | c.827-1248G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128447854 | ||||||
| chr5:128447970
|
G | A | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.827-1364C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128447970 | ||||||
| chr5:128448310
|
C | CT | 6 | a0001c0003t0005g0100a0001c0008t0006g0023a0001c0009t0006g0028others(3): Show | 6 | HG02717.hp2 HG03041.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.827-1705dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128448310 | ||||||
| chr5:128448341
|
G | C | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.827-1735C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128448341 | ||||||
| chr5:128448469
|
G | A | 1 | a0001c0001t0003g0011 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.827-1863C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128448469 | ||||||
| chr5:128448604
|
G | A | 1 | a0001c0011t0009g0065 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.827-1998C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128448604 | ||||||
| chr5:128448924
|
C | T | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.827-2318G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128448924 | ||||||
| chr5:128448932
|
C | G | 3 | a0001c0001t0005g0087a0001c0008t0006g0023a0001c0028t0002g0022 | 3 | HG02145.hp2 HG03139.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.827-2326G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128448932 | ||||||
| chr5:128448940
|
C | T | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.827-2334G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128448940 | ||||||
| chr5:128448965
|
C | T | 1 | a0002c0002t0001g0222 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.827-2359G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128448965 | ||||||
| chr5:128449040
|
A | G | 1 | a0001c0001t0002g0072 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.827-2434T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449040 | ||||||
| chr5:128449043
|
C | A | 8 | a0001c0003t0001g0140a0003c0004t0001g0124a0003c0004t0001g0129others(5): Show | 8 | HG00140.hp1 HG01192.hp2 HG01256.hp1 others(5): Show |
intron_variant | MODIFIER | c.827-2437G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449043 | ||||||
| chr5:128449244
|
C | G | 1 | a0004c0005t0001g0214 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.827-2638G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449244 | ||||||
| chr5:128449293
|
C | T | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.827-2687G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449293 | ||||||
| chr5:128449326
|
T | C | 5 | a0001c0009t0002g0049a0003c0006t0004g0042a0003c0006t0004g0051others(2): Show | 5 | HG01346.hp2 HG01358.hp2 HG03239.hp2 others(2): Show |
intron_variant | MODIFIER | c.827-2720A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449326 | ||||||
| chr5:128449333
|
C | T | 4 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103others(1): Show | 4 | HG02109.hp2 HG02965.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.827-2727G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449333 | ||||||
| chr5:128449334
|
G | A | 1 | a0001c0001t0001g0158 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.827-2728C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449334 | ||||||
| chr5:128449343
|
CATAGTAT others(5): Show |
C | 42 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(39): Show | 42 | HG00099.hp2 HG00741.hp1 HG01361.hp1 others(39): Show |
intron_variant | MODIFIER | c.827-2749_827-2738d others(14): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449343 | ||||||
| chr5:128449373
|
T | TTATAGTA others(28): Show |
2 | a0001c0003t0017g0004a0001c0003t0032g0141 | 2 | HG02717.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.827-2802_827-2768d others(37): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449373 | ||||||
| chr5:128449373
|
TTATAGTA others(28): Show |
T | 67 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(64): Show | 67 | HG00140.hp1 HG00639.hp1 HG01069.hp1 others(64): Show |
intron_variant | MODIFIER | c.827-2802_827-2768d others(37): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449373 | ||||||
| chr5:128449376
|
T | TAGTATAC others(28): Show |
15 | a0001c0003t0005g0100a0001c0009t0006g0028a0001c0009t0006g0030others(12): Show | 15 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(12): Show |
intron_variant | MODIFIER | c.827-2771_827-2770i others(37): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449376 | ||||||
| chr5:128449376
|
T | TAGTATAC others(63): Show |
9 | a0001c0009t0002g0040a0001c0011t0010g0104a0001c0011t0022g0061others(6): Show | 9 | HG01358.hp2 HG02257.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.827-2771_827-2770i others(72): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449376 | ||||||
| chr5:128449376
|
T | TAGTATAC others(98): Show |
1 | a0001c0008t0025g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.827-2771_827-2770i others(107): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449376 | ||||||
| chr5:128449376
|
T | TAGTATAC others(203): Show |
1 | a0001c0009t0002g0049 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.827-2771_827-2770i others(212): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449376 | ||||||
| chr5:128449383
|
CTATATAA others(12): Show |
C | 1 | a0027c0027t0008g0020 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.827-2796_827-2778d others(21): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449383 | ||||||
| chr5:128449393
|
G | T | 5 | a0001c0001t0001g0184a0001c0001t0001g0186a0001c0001t0001g0188others(2): Show | 5 | HG00099.hp1 HG01106.hp2 HG01192.hp1 others(2): Show |
intron_variant | MODIFIER | c.827-2787C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449393 | ||||||
| chr5:128449396
|
T | C | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.827-2790A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449396 | ||||||
| chr5:128449400
|
G | A | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.827-2794C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449400 | ||||||
| chr5:128449411
|
T | C | 38 | a0001c0001t0001g0126a0001c0001t0001g0142a0001c0001t0001g0164others(35): Show | 38 | HG00323.hp2 HG00609.hp2 HG01081.hp1 others(35): Show |
intron_variant | MODIFIER | c.827-2805A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449411 | ||||||
| chr5:128449446
|
T | C | 31 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0008t0028g0113others(28): Show | 31 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(28): Show |
intron_variant | MODIFIER | c.827-2840A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449446 | ||||||
| chr5:128449631
|
G | A | 2 | a0004c0005t0001g0192a0004c0005t0001g0200 | 2 | HG00099.hp2 HG02109.hp1 |
intron_variant | MODIFIER | c.827-3025C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449631 | ||||||
| chr5:128449642
|
T | C | 15 | a0001c0003t0006g0060a0001c0011t0009g0065a0001c0033t0005g0037others(12): Show | 15 | HG00639.hp1 HG01496.hp1 HG01884.hp2 others(12): Show |
intron_variant | MODIFIER | c.827-3036A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449642 | ||||||
| chr5:128449911
|
G | A | 5 | a0001c0008t0028g0113a0001c0035t0009g0036a0001c0045t0006g0026others(2): Show | 5 | HG02559.hp1 HG02630.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.827-3305C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128449911 | ||||||
| chr5:128450337
|
G | A | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.827-3731C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128450337 | ||||||
| chr5:128450395
|
C | T | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.827-3789G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128450395 | ||||||
| chr5:128450424
|
C | T | 1 | a0001c0001t0003g0011 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.827-3818G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128450424 | ||||||
| chr5:128450777
|
A | G | 4 | a0003c0006t0004g0044a0003c0006t0004g0045a0003c0006t0004g0047others(1): Show | 4 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(1): Show |
intron_variant | MODIFIER | c.827-4171T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128450777 | ||||||
| chr5:128450884
|
T | G | 32 | a0001c0001t0001g0127a0001c0001t0001g0162a0001c0001t0001g0227others(29): Show | 32 | HG00558.hp1 HG01074.hp2 HG01975.hp1 others(29): Show |
intron_variant | MODIFIER | c.827-4278A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128450884 | ||||||
| chr5:128450899
|
C | T | 1 | a0003c0004t0033g0128 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.827-4293G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128450899 | ||||||
| chr5:128451391
|
A | G | 1 | a0003c0004t0002g0063 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.827-4785T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128451391 | ||||||
| chr5:128451502
|
C | A | 1 | a0020c0043t0019g0018 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.827-4896G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128451502 | ||||||
| chr5:128451550
|
G | A | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.827-4944C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128451550 | ||||||
| chr5:128451917
|
T | C | 147 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(144): Show | 147 | HG00099.hp2 HG00140.hp1 HG00639.hp1 others(144): Show |
intron_variant | MODIFIER | c.827-5311A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128451917 | ||||||
| chr5:128451956
|
A | AT | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.827-5351dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128451956 | ||||||
| chr5:128452260
|
C | T | 1 | a0025c0069t0005g0109 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.827-5654G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128452260 | ||||||
| chr5:128452271
|
A | G | 147 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(144): Show | 147 | HG00099.hp2 HG00140.hp1 HG00639.hp1 others(144): Show |
intron_variant | MODIFIER | c.827-5665T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128452271 | ||||||
| chr5:128452437
|
G | A | 1 | a0001c0001t0001g0164 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.827-5831C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128452437 | ||||||
| chr5:128452456
|
C | T | 1 | a0002c0039t0005g0031 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.827-5850G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128452456 | ||||||
| chr5:128452725
|
T | G | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.827-6119A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128452725 | ||||||
| chr5:128452763
|
C | T | 41 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(38): Show | 41 | HG00099.hp2 HG00741.hp1 HG01361.hp1 others(38): Show |
intron_variant | MODIFIER | c.827-6157G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128452763 | ||||||
| chr5:128452766
|
G | C | 1 | a0001c0009t0006g0030 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.827-6160C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128452766 | ||||||
| chr5:128453031
|
T | C | 1 | a0002c0002t0001g0222 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.827-6425A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128453031 | ||||||
| chr5:128453101
|
G | T | 42 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(39): Show | 42 | HG00099.hp2 HG00741.hp1 HG01361.hp1 others(39): Show |
intron_variant | MODIFIER | c.827-6495C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128453101 | ||||||
| chr5:128453253
|
G | A | 1 | a0001c0003t0001g0204 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.827-6647C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128453253 | ||||||
| chr5:128453322
|
T | C | 1 | a0005c0017t0003g0015 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.827-6716A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128453322 | ||||||
| chr5:128453990
|
G | GC | 20 | a0001c0001t0001g0175a0001c0001t0001g0186a0001c0001t0001g0188others(17): Show | 20 | HG00099.hp1 HG00609.hp1 HG00735.hp1 others(17): Show |
intron_variant | MODIFIER | c.827-7385dupG | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128453990 | ||||||
| chr5:128453999
|
C | A | 14 | a0001c0001t0001g0227a0001c0001t0001g0229a0002c0002t0001g0210others(11): Show | 14 | HG01975.hp1 HG02083.hp2 HG02155.hp1 others(11): Show |
intron_variant | MODIFIER | c.827-7393G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128453999 | ||||||
| chr5:128453999
|
C | G | 5 | a0003c0007t0006g0055a0003c0007t0006g0056a0003c0007t0006g0057others(2): Show | 5 | HG01069.hp1 HG01071.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.827-7393G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128453999 | ||||||
| chr5:128454127
|
C | T | 2 | a0002c0002t0001g0168a0017c0061t0031g0169 | 2 | NA18940.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.827-7521G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128454127 | ||||||
| chr5:128454378
|
A | G | 30 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(27): Show | 30 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(27): Show |
intron_variant | MODIFIER | c.827-7772T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128454378 | ||||||
| chr5:128454577
|
G | A | 2 | a0002c0002t0001g0210a0002c0002t0001g0211 | 2 | NA18956.hp1 NA18964.hp1 |
intron_variant | MODIFIER | c.827-7971C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128454577 | ||||||
| chr5:128454616
|
T | C | 1 | a0001c0001t0002g0077 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.827-8010A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128454616 | ||||||
| chr5:128454752
|
C | T | 1 | a0001c0003t0032g0141 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.827-8146G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128454752 | ||||||
| chr5:128454857
|
G | C | 1 | a0003c0004t0036g0233 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.827-8251C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128454857 | ||||||
| chr5:128455163
|
G | A | 2 | a0005c0019t0003g0006a0005c0019t0003g0009 | 2 | NA18940.hp2 NA18993.hp1 |
intron_variant | MODIFIER | c.827-8557C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455163 | ||||||
| chr5:128455277
|
T | C | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.827-8671A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455277 | ||||||
| chr5:128455300
|
A | G | 42 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(39): Show | 42 | HG00099.hp2 HG00741.hp1 HG01361.hp1 others(39): Show |
intron_variant | MODIFIER | c.827-8694T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455300 | ||||||
| chr5:128455653
|
G | A | 1 | a0003c0006t0004g0046 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.827-9047C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455653 | ||||||
| chr5:128455666
|
A | G | 2 | a0001c0003t0001g0136a0001c0003t0001g0185 | 2 | HG01106.hp2 HG01192.hp1 |
intron_variant | MODIFIER | c.826+9058T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455666 | ||||||
| chr5:128455668
|
T | C | 48 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(45): Show | 48 | HG00140.hp1 HG01069.hp1 HG01071.hp1 others(45): Show |
intron_variant | MODIFIER | c.826+9056A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455668 | ||||||
| chr5:128455912
|
C | T | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.826+8812G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455912 | ||||||
| chr5:128455990
|
C | CA | 31 | a0001c0001t0001g0145a0001c0001t0001g0148a0001c0001t0001g0152others(28): Show | 31 | HG00099.hp1 HG00735.hp1 HG01106.hp1 others(28): Show |
intron_variant | MODIFIER | c.826+8733dupT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
C | CAA | 7 | a0001c0001t0001g0175a0001c0003t0001g0190a0002c0002t0001g0183others(4): Show | 7 | HG00609.hp1 HG01952.hp1 HG01978.hp1 others(4): Show |
intron_variant | MODIFIER | c.826+8732_826+8733d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
C | CAAA | 13 | a0001c0003t0006g0060a0001c0009t0002g0040a0001c0021t0003g0010others(10): Show | 13 | HG01074.hp1 HG01256.hp2 HG01346.hp2 others(10): Show |
intron_variant | MODIFIER | c.826+8731_826+8733d others(5): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
C | CAAAA | 18 | a0001c0001t0002g0077a0001c0003t0005g0100a0001c0003t0017g0004others(15): Show | 18 | HG01069.hp1 HG01071.hp1 HG01258.hp1 others(15): Show |
intron_variant | MODIFIER | c.826+8730_826+8733d others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
C | CAAAAA | 17 | a0001c0001t0002g0072a0001c0001t0002g0082a0001c0001t0013g0111others(14): Show | 17 | HG01516.hp1 HG01884.hp1 HG02257.hp2 others(14): Show |
intron_variant | MODIFIER | c.826+8729_826+8733d others(7): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
C | CAAAAAA | 32 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0075others(29): Show | 32 | HG00140.hp1 HG01081.hp2 HG01256.hp1 others(29): Show |
intron_variant | MODIFIER | c.826+8728_826+8733d others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
C | CAAAAAAA | 11 | a0001c0001t0002g0071a0001c0001t0005g0087a0001c0001t0013g0110others(8): Show | 11 | HG01258.hp2 HG01361.hp2 HG01884.hp2 others(8): Show |
intron_variant | MODIFIER | c.826+8727_826+8733d others(9): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
C | CAAAAAAA others(1): Show |
9 | a0001c0001t0002g0073a0001c0003t0001g0140a0001c0008t0006g0023others(6): Show | 9 | HG00639.hp1 HG02818.hp2 HG02965.hp1 others(6): Show |
intron_variant | MODIFIER | c.826+8726_826+8733d others(10): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
C | CAAAAAAA others(3): Show |
1 | a0015c0049t0002g0066 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.826+8724_826+8733d others(12): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
C | CAAAAAAA others(6): Show |
1 | a0025c0069t0005g0109 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.826+8721_826+8733d others(15): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
C | CAAAAAAA others(7): Show |
1 | a0004c0005t0001g0205 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.826+8720_826+8733d others(16): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
C | CAAAAAAA others(8): Show |
2 | a0003c0012t0001g0187a0005c0017t0003g0015 | 2 | HG01192.hp2 NA18960.hp2 |
intron_variant | MODIFIER | c.826+8719_826+8733d others(17): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
C | CAAAAAAA others(9): Show |
1 | a0005c0019t0003g0006 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.826+8718_826+8733d others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
C | CAAAAAAA others(10): Show |
7 | a0001c0001t0003g0002a0001c0001t0003g0013a0003c0004t0002g0090others(4): Show | 7 | HG02129.hp1 HG02698.hp2 HG03834.hp1 others(4): Show |
intron_variant | MODIFIER | c.826+8717_826+8733d others(19): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
C | CAAAAAAA others(14): Show |
3 | a0001c0001t0003g0014a0012c0026t0002g0108a0024c0068t0002g0106 | 3 | HG01516.hp2 HG06807.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.826+8713_826+8733d others(23): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
C | CAAAAAAA others(16): Show |
1 | a0001c0003t0001g0204 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.826+8711_826+8733d others(25): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
C | CAAAAAAA others(19): Show |
1 | a0004c0005t0001g0232 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.826+8708_826+8733d others(28): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
C | CAAAAAAA others(20): Show |
1 | a0001c0057t0001g0202 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.826+8707_826+8733d others(29): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
C | CAAAAAAA others(21): Show |
1 | a0012c0026t0002g0107 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.826+8706_826+8733d others(30): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
C | CAAAAAAA others(28): Show |
1 | a0004c0005t0001g0209 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.826+8733_826+8734i others(37): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
C | CAAAAAAA others(31): Show |
1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.826+8733_826+8734i others(40): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
CA | C | 11 | a0001c0001t0001g0126a0001c0001t0001g0164a0001c0001t0001g0229others(8): Show | 11 | HG00323.hp2 HG00741.hp1 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.826+8733delT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
CAAAAAAA others(3): Show |
C | 4 | a0001c0035t0009g0036a0001c0045t0006g0026a0002c0038t0004g0035others(1): Show | 4 | HG02559.hp1 HG03195.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.826+8724_826+8733d others(12): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
CAAAAAAA others(7): Show |
C | 1 | a0001c0054t0001g0194 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.826+8720_826+8733d others(16): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128455990
|
CAAAAAAA others(12): Show |
C | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.826+8715_826+8733d others(21): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128455990 | ||||||
| chr5:128456001
|
A | C | 1 | a0003c0004t0003g0012 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.826+8723T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128456001 | ||||||
| chr5:128456019
|
A | C | 1 | a0003c0004t0003g0012 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.826+8705T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128456019 | ||||||
| chr5:128456023
|
A | AAAAAAAA others(9): Show |
1 | a0003c0004t0003g0012 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.826+8700_826+8701i others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128456023 | ||||||
| chr5:128456214
|
C | T | 1 | a0002c0039t0005g0031 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.826+8510G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128456214 | ||||||
| chr5:128456232
|
G | A | 1 | a0004c0005t0001g0209 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.826+8492C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128456232 | ||||||
| chr5:128456338
|
G | A | 58 | a0001c0001t0001g0127a0001c0001t0001g0162a0001c0001t0001g0175others(55): Show | 58 | HG00099.hp1 HG00558.hp1 HG00609.hp1 others(55): Show |
intron_variant | MODIFIER | c.826+8386C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128456338 | ||||||
| chr5:128456505
|
C | T | 7 | a0005c0017t0003g0008a0005c0017t0003g0015a0005c0019t0003g0006others(4): Show | 7 | HG02129.hp1 NA18940.hp2 NA18960.hp2 others(4): Show |
intron_variant | MODIFIER | c.826+8219G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128456505 | ||||||
| chr5:128456609
|
T | C | 1 | a0026c0070t0002g0105 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.826+8115A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128456609 | ||||||
| chr5:128456737
|
A | G | 2 | a0003c0007t0006g0057a0003c0007t0006g0058 | 2 | HG03041.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.826+7987T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128456737 | ||||||
| chr5:128456948
|
C | G | 1 | a0001c0001t0002g0079 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.826+7776G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128456948 | ||||||
| chr5:128457126
|
A | G | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.826+7598T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128457126 | ||||||
| chr5:128457323
|
T | C | 1 | a0003c0007t0006g0057 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.826+7401A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128457323 | ||||||
| chr5:128457419
|
C | T | 42 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(39): Show | 42 | HG00099.hp2 HG00741.hp1 HG01361.hp1 others(39): Show |
intron_variant | MODIFIER | c.826+7305G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128457419 | ||||||
| chr5:128457455
|
C | T | 1 | a0001c0058t0020g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.826+7269G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128457455 | ||||||
| chr5:128457456
|
G | A | 1 | a0023c0051t0003g0005 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.826+7268C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128457456 | ||||||
| chr5:128457796
|
G | T | 1 | a0020c0043t0019g0018 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.826+6928C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128457796 | ||||||
| chr5:128457805
|
A | G | 5 | a0001c0001t0005g0087a0001c0008t0006g0023a0001c0028t0002g0022others(2): Show | 5 | HG02145.hp2 HG02818.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.826+6919T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128457805 | ||||||
| chr5:128457829
|
G | C | 1 | a0003c0004t0001g0129 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.826+6895C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128457829 | ||||||
| chr5:128457836
|
A | G | 1 | a0001c0011t0010g0104 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.826+6888T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128457836 | ||||||
| chr5:128457842
|
CA | C | 24 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(21): Show | 24 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(21): Show |
intron_variant | MODIFIER | c.826+6881delT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128457842 | ||||||
| chr5:128457854
|
A | C | 1 | a0001c0001t0001g0175 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.826+6870T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128457854 | ||||||
| chr5:128458071
|
C | G | 4 | a0001c0003t0005g0100a0001c0009t0006g0028a0001c0009t0006g0030others(1): Show | 4 | HG02717.hp2 HG03041.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.826+6653G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128458071 | ||||||
| chr5:128458082
|
T | G | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.826+6642A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128458082 | ||||||
| chr5:128458283
|
T | G | 26 | a0001c0003t0001g0140a0002c0059t0005g0092a0003c0004t0001g0124others(23): Show | 26 | HG00140.hp1 HG01069.hp1 HG01071.hp1 others(23): Show |
intron_variant | MODIFIER | c.826+6441A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128458283 | ||||||
| chr5:128458321
|
G | C | 1 | a0001c0035t0009g0036 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.826+6403C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128458321 | ||||||
| chr5:128458396
|
T | C | 1 | a0002c0002t0001g0183 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.826+6328A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128458396 | ||||||
| chr5:128458430
|
AC | A | 42 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(39): Show | 42 | HG00099.hp2 HG00741.hp1 HG01361.hp1 others(39): Show |
intron_variant | MODIFIER | c.826+6293delG | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128458430 | ||||||
| chr5:128458726
|
A | G | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.826+5998T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128458726 | ||||||
| chr5:128459056
|
C | A | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.826+5668G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128459056 | ||||||
| chr5:128459086
|
A | G | 1 | a0001c0001t0002g0073 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.826+5638T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128459086 | ||||||
| chr5:128459344
|
G | A | 3 | a0002c0032t0009g0039a0002c0034t0004g0038a0003c0004t0002g0103 | 3 | HG02109.hp2 HG02970.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.826+5380C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128459344 | ||||||
| chr5:128459491
|
CACA | C | 48 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(45): Show | 48 | HG00140.hp1 HG01069.hp1 HG01071.hp1 others(45): Show |
intron_variant | MODIFIER | c.826+5230_826+5232d others(5): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128459491 | ||||||
| chr5:128459608
|
C | T | 1 | a0001c0008t0006g0023 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.826+5116G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128459608 | ||||||
| chr5:128459674
|
A | C | 15 | a0001c0003t0006g0060a0001c0011t0009g0065a0001c0033t0005g0037others(12): Show | 15 | HG00639.hp1 HG01496.hp1 HG01884.hp2 others(12): Show |
intron_variant | MODIFIER | c.826+5050T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128459674 | ||||||
| chr5:128459676
|
C | T | 1 | a0001c0003t0032g0141 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.826+5048G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128459676 | ||||||
| chr5:128459704
|
G | A | 75 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(72): Show | 75 | HG00140.hp1 HG00639.hp1 HG01069.hp1 others(72): Show |
intron_variant | MODIFIER | c.826+5020C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128459704 | ||||||
| chr5:128459766
|
G | A | 1 | a0002c0002t0001g0161 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.826+4958C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128459766 | ||||||
| chr5:128460040
|
G | A | 1 | a0001c0011t0010g0104 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.826+4684C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128460040 | ||||||
| chr5:128460065
|
G | A | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.826+4659C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128460065 | ||||||
| chr5:128460130
|
C | T | 75 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(72): Show | 75 | HG00140.hp1 HG00639.hp1 HG01069.hp1 others(72): Show |
intron_variant | MODIFIER | c.826+4594G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128460130 | ||||||
| chr5:128460131
|
G | A | 26 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(23): Show | 26 | HG01256.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
intron_variant | MODIFIER | c.826+4593C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128460131 | ||||||
| chr5:128460132
|
G | C | 15 | a0001c0003t0006g0060a0001c0011t0009g0065a0001c0033t0005g0037others(12): Show | 15 | HG00639.hp1 HG01496.hp1 HG01884.hp2 others(12): Show |
intron_variant | MODIFIER | c.826+4592C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128460132 | ||||||
| chr5:128460301
|
G | T | 1 | a0012c0026t0002g0108 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.826+4423C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128460301 | ||||||
| chr5:128460633
|
C | G | 1 | a0001c0001t0002g0082 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.826+4091G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128460633 | ||||||
| chr5:128460799
|
A | C | 1 | a0001c0001t0003g0014 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.826+3925T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128460799 | ||||||
| chr5:128461323
|
G | T | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.826+3401C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128461323 | ||||||
| chr5:128461893
|
G | A | 2 | a0001c0035t0009g0036a0002c0038t0004g0035 | 2 | HG03471.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.826+2831C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128461893 | ||||||
| chr5:128462082
|
C | T | 235 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(232): Show | 235 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(232): Show |
intron_variant | MODIFIER | c.826+2642G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128462082 | ||||||
| chr5:128462218
|
T | C | 1 | a0003c0010t0005g0094 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.826+2506A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128462218 | ||||||
| chr5:128462292
|
T | C | 4 | a0003c0004t0002g0063a0003c0004t0002g0064a0003c0004t0005g0062others(1): Show | 4 | HG02896.hp1 HG02965.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.826+2432A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128462292 | ||||||
| chr5:128462328
|
A | G | 1 | a0001c0003t0005g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.826+2396T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128462328 | ||||||
| chr5:128462536
|
T | C | 2 | a0002c0023t0038g0235a0022c0066t0021g0101 | 2 | HG02280.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.826+2188A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128462536 | ||||||
| chr5:128462922
|
T | C | 8 | a0001c0008t0025g0115a0001c0008t0028g0113a0001c0011t0010g0104others(5): Show | 8 | HG02257.hp2 HG02572.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.826+1802A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128462922 | ||||||
| chr5:128463222
|
A | T | 1 | a0001c0001t0013g0111 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.826+1502T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128463222 | ||||||
| chr5:128463258
|
T | G | 4 | a0001c0021t0003g0010a0003c0010t0008g0085a0003c0013t0016g0003others(1): Show | 4 | HG01074.hp1 HG02818.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.826+1466A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128463258 | ||||||
| chr5:128463385
|
G | C | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.826+1339C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128463385 | ||||||
| chr5:128463528
|
T | C | 2 | a0003c0007t0006g0057a0003c0007t0006g0058 | 2 | HG03041.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.826+1196A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128463528 | ||||||
| chr5:128463583
|
A | T | 37 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(34): Show | 37 | HG00099.hp2 HG00741.hp1 HG01081.hp1 others(34): Show |
intron_variant | MODIFIER | c.826+1141T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128463583 | ||||||
| chr5:128463604
|
A | T | 1 | a0002c0002t0001g0224 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.826+1120T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128463604 | ||||||
| chr5:128463632
|
C | A | 19 | a0001c0003t0001g0201a0001c0003t0001g0204a0001c0050t0001g0208others(16): Show | 19 | HG00099.hp2 HG01358.hp2 HG01361.hp1 others(16): Show |
intron_variant | MODIFIER | c.826+1092G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128463632 | ||||||
| chr5:128463845
|
C | G | 1 | a0002c0002t0001g0161 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.826+879G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128463845 | ||||||
| chr5:128464050
|
C | T | 5 | a0001c0008t0006g0023a0001c0028t0002g0022a0002c0023t0038g0235others(2): Show | 5 | HG02145.hp2 HG02280.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.826+674G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128464050 | ||||||
| chr5:128464160
|
T | C | 1 | a0002c0023t0038g0235 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.826+564A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128464160 | ||||||
| chr5:128464615
|
G | A | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.826+109C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128464615 | ||||||
| chr5:128464692
|
C | T | 2 | a0001c0045t0006g0026a0019c0046t0010g0027 | 2 | HG02559.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.826+32G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 6/64 | chr5 | 128464692 | ||||||
| chr5:128464930
|
T | C | 10 | a0001c0001t0001g0175a0001c0003t0001g0174a0001c0003t0001g0176others(7): Show | 10 | HG00735.hp1 HG01952.hp1 HG01978.hp1 others(7): Show |
intron_variant | MODIFIER | c.629-9A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128464930 | ||||||
| chr5:128464965
|
T | C | 1 | a0001c0009t0002g0040 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.629-44A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128464965 | ||||||
| chr5:128465232
|
A | G | 1 | a0001c0001t0001g0148 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.629-311T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128465232 | ||||||
| chr5:128465359
|
G | C | 206 | a0001c0001t0001g0127a0001c0001t0001g0162a0001c0001t0001g0172others(203): Show | 206 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(203): Show |
intron_variant | MODIFIER | c.629-438C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128465359 | ||||||
| chr5:128465365
|
A | G | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.629-444T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128465365 | ||||||
| chr5:128465401
|
G | C | 1 | a0001c0003t0001g0174 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.629-480C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128465401 | ||||||
| chr5:128465503
|
C | T | 24 | a0001c0003t0005g0100a0001c0003t0017g0004a0001c0008t0025g0115others(21): Show | 24 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(21): Show |
intron_variant | MODIFIER | c.629-582G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128465503 | ||||||
| chr5:128465511
|
T | A | 2 | a0002c0002t0001g0219a0003c0004t0001g0160 | 2 | NA18972.hp1 NA18992.hp1 |
intron_variant | MODIFIER | c.629-590A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128465511 | ||||||
| chr5:128465523
|
T | C | 2 | a0001c0036t0004g0032a0003c0007t0002g0033 | 2 | HG01884.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.629-602A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128465523 | ||||||
| chr5:128465630
|
A | G | 12 | a0001c0003t0017g0004a0001c0009t0002g0040a0001c0009t0002g0049others(9): Show | 12 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(9): Show |
intron_variant | MODIFIER | c.629-709T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128465630 | ||||||
| chr5:128466017
|
A | G | 1 | a0003c0004t0001g0160 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.629-1096T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128466017 | ||||||
| chr5:128466083
|
C | A | 1 | a0004c0005t0002g0069 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.629-1162G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128466083 | ||||||
| chr5:128466121
|
T | C | 1 | a0002c0002t0001g0183 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.629-1200A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128466121 | ||||||
| chr5:128466248
|
C | A | 2 | a0002c0002t0001g0135a0002c0002t0015g0134 | 2 | HG01074.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.629-1327G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128466248 | ||||||
| chr5:128466468
|
A | G | 1 | a0001c0033t0005g0037 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.629-1547T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128466468 | ||||||
| chr5:128466545
|
C | T | 9 | a0001c0003t0001g0140a0001c0003t0032g0141a0003c0004t0001g0124others(6): Show | 9 | HG00140.hp1 HG01192.hp2 HG01256.hp1 others(6): Show |
intron_variant | MODIFIER | c.629-1624G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128466545 | ||||||
| chr5:128466653
|
G | C | 1 | a0026c0070t0002g0105 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.629-1732C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128466653 | ||||||
| chr5:128466962
|
G | A | 4 | a0001c0001t0002g0072a0001c0001t0013g0110a0001c0001t0013g0111others(1): Show | 4 | HG01516.hp1 HG01952.hp2 HG01975.hp2 others(1): Show |
intron_variant | MODIFIER | c.629-2041C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128466962 | ||||||
| chr5:128467143
|
T | C | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.629-2222A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128467143 | ||||||
| chr5:128467701
|
T | C | 1 | a0001c0001t0002g0075 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.629-2780A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128467701 | ||||||
| chr5:128467962
|
G | A | 1 | a0002c0002t0001g0161 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.629-3041C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128467962 | ||||||
| chr5:128467981
|
C | G | 1 | a0001c0001t0001g0145 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.629-3060G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128467981 | ||||||
| chr5:128467995
|
T | C | 1 | a0003c0016t0037g0234 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.629-3074A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128467995 | ||||||
| chr5:128468001
|
T | G | 1 | a0002c0039t0005g0031 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.629-3080A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128468001 | ||||||
| chr5:128468123
|
A | G | 114 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(111): Show | 114 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(111): Show |
intron_variant | MODIFIER | c.629-3202T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128468123 | ||||||
| chr5:128468435
|
T | C | 1 | a0003c0004t0002g0090 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.629-3514A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128468435 | ||||||
| chr5:128468654
|
C | T | 2 | a0002c0002t0005g0102a0002c0023t0007g0121 | 2 | HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.629-3733G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128468654 | ||||||
| chr5:128468786
|
A | C | 4 | a0001c0021t0003g0010a0003c0010t0008g0085a0003c0013t0016g0003others(1): Show | 4 | HG01074.hp1 HG02818.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.629-3865T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128468786 | ||||||
| chr5:128468809
|
A | T | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.629-3888T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128468809 | ||||||
| chr5:128468895
|
G | C | 1 | a0001c0001t0001g0153 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.629-3974C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128468895 | ||||||
| chr5:128468968
|
T | A | 17 | a0001c0003t0001g0201a0001c0003t0001g0204a0001c0050t0001g0208others(14): Show | 17 | HG01358.hp2 HG01361.hp1 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.629-4047A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128468968 | ||||||
| chr5:128469003
|
C | A | 1 | a0001c0001t0003g0014 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.629-4082G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128469003 | ||||||
| chr5:128469134
|
G | T | 24 | a0001c0003t0005g0100a0001c0003t0017g0004a0001c0008t0025g0115others(21): Show | 24 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(21): Show |
intron_variant | MODIFIER | c.629-4213C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128469134 | ||||||
| chr5:128469381
|
A | T | 2 | a0002c0023t0038g0235a0022c0066t0021g0101 | 2 | HG02280.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.629-4460T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128469381 | ||||||
| chr5:128469449
|
T | G | 114 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(111): Show | 114 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(111): Show |
intron_variant | MODIFIER | c.629-4528A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128469449 | ||||||
| chr5:128469530
|
C | CA | 139 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(136): Show | 139 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(136): Show |
intron_variant | MODIFIER | c.629-4610dupT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128469530 | ||||||
| chr5:128469530
|
C | CAA | 84 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(81): Show | 84 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(81): Show |
intron_variant | MODIFIER | c.629-4611_629-4610d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128469530 | ||||||
| chr5:128469530
|
C | CAAA | 11 | a0001c0001t0002g0076a0001c0008t0025g0115a0001c0008t0028g0113others(8): Show | 11 | HG02257.hp2 HG02572.hp1 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.629-4612_629-4610d others(5): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128469530 | ||||||
| chr5:128469564
|
C | G | 2 | a0001c0008t0006g0023a0001c0028t0002g0022 | 2 | HG02145.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.629-4643G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128469564 | ||||||
| chr5:128469711
|
C | T | 45 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(42): Show | 45 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(42): Show |
intron_variant | MODIFIER | c.629-4790G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128469711 | ||||||
| chr5:128469730
|
C | T | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.629-4809G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128469730 | ||||||
| chr5:128470541
|
T | G | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.629-5620A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128470541 | ||||||
| chr5:128470645
|
G | A | 1 | a0001c0003t0001g0174 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.629-5724C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128470645 | ||||||
| chr5:128470788
|
C | G | 3 | a0012c0026t0002g0107a0012c0026t0002g0108a0024c0068t0002g0106 | 3 | HG01516.hp2 HG02257.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.629-5867G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128470788 | ||||||
| chr5:128470855
|
T | TAGAAGCT others(57): Show |
1 | a0001c0021t0003g0010 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.629-5998_629-5935d others(66): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128470855 | ||||||
| chr5:128470907
|
T | C | 1 | a0001c0058t0020g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.629-5986A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128470907 | ||||||
| chr5:128471117
|
G | C | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.629-6196C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128471117 | ||||||
| chr5:128471265
|
C | A | 24 | a0001c0003t0005g0100a0001c0003t0017g0004a0001c0008t0025g0115others(21): Show | 24 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(21): Show |
intron_variant | MODIFIER | c.629-6344G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128471265 | ||||||
| chr5:128471533
|
A | G | 1 | a0007c0022t0001g0216 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.629-6612T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128471533 | ||||||
| chr5:128471536
|
G | C | 1 | a0002c0059t0005g0092 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.629-6615C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128471536 | ||||||
| chr5:128471573
|
G | A | 2 | a0001c0008t0006g0023a0001c0028t0002g0022 | 2 | HG02145.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.629-6652C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128471573 | ||||||
| chr5:128471573
|
G | T | 3 | a0001c0003t0001g0201a0001c0003t0001g0204a0001c0057t0001g0202 | 3 | HG02145.hp1 HG02698.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.629-6652C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128471573 | ||||||
| chr5:128471765
|
T | C | 1 | a0003c0004t0002g0103 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.629-6844A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128471765 | ||||||
| chr5:128471848
|
T | A | 1 | a0001c0050t0001g0208 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.629-6927A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128471848 | ||||||
| chr5:128471876
|
G | A | 1 | a0003c0004t0002g0089 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.629-6955C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128471876 | ||||||
| chr5:128472333
|
A | G | 1 | a0026c0070t0002g0105 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.629-7412T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128472333 | ||||||
| chr5:128472419
|
G | C | 1 | a0002c0002t0001g0207 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.629-7498C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128472419 | ||||||
| chr5:128472748
|
G | A | 9 | a0001c0003t0001g0140a0001c0003t0032g0141a0003c0004t0001g0124others(6): Show | 9 | HG00140.hp1 HG01192.hp2 HG01256.hp1 others(6): Show |
intron_variant | MODIFIER | c.629-7827C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128472748 | ||||||
| chr5:128472793
|
GA | G | 69 | a0001c0001t0001g0172a0001c0001t0002g0071a0001c0001t0002g0072others(66): Show | 69 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(66): Show |
intron_variant | MODIFIER | c.629-7873delT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128472793 | ||||||
| chr5:128473000
|
C | T | 1 | a0001c0001t0003g0002 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.629-8079G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128473000 | ||||||
| chr5:128473189
|
C | G | 1 | a0002c0002t0015g0134 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.629-8268G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128473189 | ||||||
| chr5:128473199
|
G | A | 1 | a0003c0004t0001g0124 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.629-8278C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128473199 | ||||||
| chr5:128473410
|
C | T | 111 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(108): Show | 111 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(108): Show |
intron_variant | MODIFIER | c.629-8489G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128473410 | ||||||
| chr5:128473584
|
C | T | 9 | a0001c0003t0001g0140a0001c0003t0032g0141a0003c0004t0001g0124others(6): Show | 9 | HG00140.hp1 HG01192.hp2 HG01256.hp1 others(6): Show |
intron_variant | MODIFIER | c.629-8663G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128473584 | ||||||
| chr5:128473651
|
C | T | 1 | a0022c0066t0021g0101 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.629-8730G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128473651 | ||||||
| chr5:128473720
|
C | T | 24 | a0001c0003t0005g0100a0001c0003t0017g0004a0001c0008t0025g0115others(21): Show | 24 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(21): Show |
intron_variant | MODIFIER | c.629-8799G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128473720 | ||||||
| chr5:128473828
|
T | A | 1 | a0002c0002t0001g0163 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.629-8907A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128473828 | ||||||
| chr5:128474287
|
A | T | 19 | a0001c0003t0001g0201a0001c0003t0001g0204a0001c0050t0001g0208others(16): Show | 19 | HG00099.hp2 HG01358.hp2 HG01361.hp1 others(16): Show |
intron_variant | MODIFIER | c.629-9366T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128474287 | ||||||
| chr5:128474624
|
T | C | 24 | a0001c0003t0005g0100a0001c0003t0017g0004a0001c0008t0025g0115others(21): Show | 24 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(21): Show |
intron_variant | MODIFIER | c.629-9703A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128474624 | ||||||
| chr5:128474641
|
A | G | 206 | a0001c0001t0001g0127a0001c0001t0001g0162a0001c0001t0001g0172others(203): Show | 206 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(203): Show |
intron_variant | MODIFIER | c.629-9720T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128474641 | ||||||
| chr5:128474937
|
T | G | 1 | a0004c0005t0001g0214 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.629-10016A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128474937 | ||||||
| chr5:128475012
|
G | T | 1 | a0001c0001t0002g0073 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.629-10091C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128475012 | ||||||
| chr5:128475025
|
T | C | 69 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(66): Show | 69 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(66): Show |
intron_variant | MODIFIER | c.629-10104A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128475025 | ||||||
| chr5:128475077
|
T | C | 2 | a0001c0008t0006g0023a0001c0028t0002g0022 | 2 | HG02145.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.629-10156A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128475077 | ||||||
| chr5:128475079
|
G | A | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.629-10158C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128475079 | ||||||
| chr5:128475261
|
C | T | 1 | a0003c0006t0004g0047 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.629-10340G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128475261 | ||||||
| chr5:128475371
|
G | A | 1 | a0001c0001t0003g0002 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.629-10450C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128475371 | ||||||
| chr5:128475543
|
G | A | 24 | a0001c0003t0005g0100a0001c0003t0017g0004a0001c0008t0025g0115others(21): Show | 24 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(21): Show |
intron_variant | MODIFIER | c.629-10622C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128475543 | ||||||
| chr5:128475655
|
A | G | 1 | a0002c0002t0002g0074 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.629-10734T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128475655 | ||||||
| chr5:128475868
|
T | C | 114 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(111): Show | 114 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(111): Show |
intron_variant | MODIFIER | c.629-10947A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128475868 | ||||||
| chr5:128476066
|
G | A | 1 | a0003c0004t0001g0129 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.629-11145C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128476066 | ||||||
| chr5:128476305
|
T | C | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.629-11384A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128476305 | ||||||
| chr5:128476429
|
C | T | 14 | a0001c0003t0006g0060a0001c0011t0009g0065a0001c0033t0005g0037others(11): Show | 14 | HG01496.hp1 HG01884.hp2 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.629-11508G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128476429 | ||||||
| chr5:128476712
|
G | A | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.629-11791C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128476712 | ||||||
| chr5:128476879
|
G | C | 2 | a0010c0020t0001g0149a0010c0020t0001g0151 | 2 | HG00735.hp2 HG01109.hp1 |
intron_variant | MODIFIER | c.629-11958C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128476879 | ||||||
| chr5:128476898
|
T | C | 1 | a0002c0039t0005g0031 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.629-11977A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128476898 | ||||||
| chr5:128477035
|
T | C | 2 | a0002c0023t0038g0235a0022c0066t0021g0101 | 2 | HG02280.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.629-12114A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128477035 | ||||||
| chr5:128477123
|
G | C | 24 | a0001c0003t0005g0100a0001c0003t0017g0004a0001c0008t0025g0115others(21): Show | 24 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(21): Show |
intron_variant | MODIFIER | c.629-12202C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128477123 | ||||||
| chr5:128477311
|
A | G | 39 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(36): Show | 39 | HG00099.hp2 HG00741.hp1 HG01081.hp1 others(36): Show |
intron_variant | MODIFIER | c.629-12390T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128477311 | ||||||
| chr5:128477580
|
G | C | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.629-12659C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128477580 | ||||||
| chr5:128477924
|
G | A | 1 | a0008c0063t0012g0096 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.629-13003C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128477924 | ||||||
| chr5:128478181
|
C | T | 111 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(108): Show | 111 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(108): Show |
intron_variant | MODIFIER | c.629-13260G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128478181 | ||||||
| chr5:128478227
|
G | A | 2 | a0001c0001t0001g0147a0001c0001t0001g0148 | 2 | HG00323.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.629-13306C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128478227 | ||||||
| chr5:128478271
|
A | T | 1 | a0002c0037t0023g0034 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.629-13350T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128478271 | ||||||
| chr5:128478496
|
C | T | 6 | a0001c0008t0025g0115a0001c0008t0028g0113a0001c0011t0022g0061others(3): Show | 6 | HG02572.hp1 HG02630.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.629-13575G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128478496 | ||||||
| chr5:128478611
|
A | C | 4 | a0001c0021t0003g0010a0003c0010t0008g0085a0003c0013t0016g0003others(1): Show | 4 | HG01074.hp1 HG02818.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.629-13690T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128478611 | ||||||
| chr5:128478667
|
C | G | 9 | a0001c0001t0001g0175a0001c0003t0001g0174a0001c0003t0001g0176others(6): Show | 9 | HG00735.hp1 HG01952.hp1 HG02056.hp2 others(6): Show |
intron_variant | MODIFIER | c.629-13746G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128478667 | ||||||
| chr5:128478842
|
G | T | 1 | a0001c0001t0003g0011 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.629-13921C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128478842 | ||||||
| chr5:128478918
|
G | A | 22 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(19): Show | 22 | HG00558.hp2 HG01516.hp1 HG01952.hp2 others(19): Show |
intron_variant | MODIFIER | c.629-13997C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128478918 | ||||||
| chr5:128478951
|
C | T | 1 | a0003c0007t0006g0058 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.629-14030G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128478951 | ||||||
| chr5:128479216
|
C | T | 1 | a0002c0002t0001g0183 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.629-14295G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479216 | ||||||
| chr5:128479244
|
T | C | 115 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(112): Show | 115 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(112): Show |
intron_variant | MODIFIER | c.629-14323A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479244 | ||||||
| chr5:128479352
|
G | A | 2 | a0001c0009t0006g0028a0001c0009t0006g0030 | 2 | HG02717.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.629-14431C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479352 | ||||||
| chr5:128479434
|
C | T | 112 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(109): Show | 112 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(109): Show |
intron_variant | MODIFIER | c.629-14513G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479434 | ||||||
| chr5:128479606
|
T | A | 5 | a0003c0007t0006g0055a0003c0007t0006g0056a0003c0007t0006g0057others(2): Show | 5 | HG01069.hp1 HG01071.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.629-14685A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479606 | ||||||
| chr5:128479620
|
A | C | 69 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(66): Show | 69 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(66): Show |
intron_variant | MODIFIER | c.629-14699T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479620 | ||||||
| chr5:128479760
|
G | C | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.629-14839C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479760 | ||||||
| chr5:128479864
|
C | T | 1 | a0003c0004t0033g0128 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.629-14943G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479864 | ||||||
| chr5:128479930
|
G | GTC | 2 | a0001c0001t0001g0158a0002c0002t0001g0218 | 2 | HG04199.hp1 NA18999.hp1 |
intron_variant | MODIFIER | c.629-15011_629-1501 others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479930 | ||||||
| chr5:128479930
|
GTC | G | 3 | a0002c0002t0001g0224a0003c0013t0007g0171a0004c0005t0001g0214 | 3 | HG01346.hp2 NA19056.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.629-15011_629-1501 others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479930 | ||||||
| chr5:128479930
|
GTCTCTC | G | 2 | a0001c0001t0001g0145a0007c0022t0001g0216 | 2 | HG01106.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.629-15015_629-1501 others(10): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479930 | ||||||
| chr5:128479958
|
CTCTCTCT others(25): Show |
C | 1 | a0001c0001t0002g0082 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.629-15069_629-1503 others(36): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479958 | ||||||
| chr5:128479958
|
CTCTCTCT others(29): Show |
C | 1 | a0001c0001t0013g0111 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.629-15073_629-1503 others(40): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479958 | ||||||
| chr5:128479958
|
CTCTCTCT others(31): Show |
C | 1 | a0003c0004t0001g0155 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.629-15075_629-1503 others(42): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479958 | ||||||
| chr5:128479960
|
CTCTCTCT others(21): Show |
C | 1 | a0002c0002t0002g0078 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.629-15067_629-1504 others(32): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479960 | ||||||
| chr5:128479960
|
CTCTCTCT others(23): Show |
C | 3 | a0001c0001t0002g0073a0001c0001t0002g0077a0001c0052t0002g0081 | 3 | NA18975.hp2 NA18977.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.629-15069_629-1504 others(34): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479960 | ||||||
| chr5:128479960
|
CTCTCTCT others(27): Show |
C | 2 | a0001c0001t0002g0072a0002c0034t0004g0038 | 2 | HG03471.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.629-15073_629-1504 others(38): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479960 | ||||||
| chr5:128479960
|
CTCTCTCT others(31): Show |
C | 1 | a0002c0037t0023g0034 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.629-15077_629-1504 others(42): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479960 | ||||||
| chr5:128479962
|
CTCTCTCT others(23): Show |
C | 2 | a0002c0002t0002g0067a0003c0064t0004g0080 | 2 | NA18992.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.629-15071_629-1504 others(34): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479962 | ||||||
| chr5:128479962
|
CTCTCTCT others(25): Show |
C | 2 | a0001c0001t0002g0070a0003c0004t0002g0064 | 2 | HG02056.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.629-15073_629-1504 others(36): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479962 | ||||||
| chr5:128479962
|
CTCTCTCT others(27): Show |
C | 2 | a0002c0023t0007g0121a0003c0010t0005g0094 | 2 | HG02280.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.629-15075_629-1504 others(38): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479962 | ||||||
| chr5:128479964
|
CTCTCTCT others(21): Show |
C | 1 | a0001c0001t0002g0076 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.629-15071_629-1504 others(32): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479964 | ||||||
| chr5:128479964
|
CTCTCTCT others(23): Show |
C | 2 | a0001c0001t0002g0079a0015c0049t0002g0066 | 2 | NA18951.hp1 NA18962.hp2 |
intron_variant | MODIFIER | c.629-15073_629-1504 others(34): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479964 | ||||||
| chr5:128479964
|
CTCTCTCT others(25): Show |
C | 9 | a0001c0001t0002g0075a0001c0001t0005g0087a0001c0001t0013g0110others(6): Show | 9 | HG01884.hp2 HG01952.hp2 HG02083.hp1 others(6): Show |
intron_variant | MODIFIER | c.629-15075_629-1504 others(36): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479964 | ||||||
| chr5:128479964
|
CTCTCTCT others(27): Show |
C | 3 | a0003c0004t0002g0083a0003c0004t0006g0095a0003c0007t0005g0052 | 3 | HG02809.hp2 HG02895.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.629-15077_629-1504 others(38): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479964 | ||||||
| chr5:128479964
|
CTCTCTCT others(31): Show |
C | 1 | a0003c0016t0037g0234 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.629-15081_629-1504 others(42): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479964 | ||||||
| chr5:128479966
|
CTCTCTCT others(5): Show |
C | 1 | a0001c0014t0014g0114 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.629-15057_629-1504 others(16): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479966 | ||||||
| chr5:128479966
|
CTCTCTCT others(9): Show |
C | 1 | a0001c0001t0003g0014 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.629-15061_629-1504 others(20): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479966 | ||||||
| chr5:128479966
|
CTCTCTCT others(17): Show |
C | 1 | a0001c0048t0001g0120 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.629-15069_629-1504 others(28): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479966 | ||||||
| chr5:128479966
|
CTCTCTCT others(21): Show |
C | 1 | a0020c0043t0019g0018 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.629-15073_629-1504 others(32): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479966 | ||||||
| chr5:128479966
|
CTCTCTCT others(23): Show |
C | 2 | a0001c0001t0001g0126a0003c0004t0002g0088 | 2 | HG01884.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.629-15075_629-1504 others(34): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479966 | ||||||
| chr5:128479966
|
CTCTCTCT others(25): Show |
C | 5 | a0002c0002t0001g0125a0003c0004t0002g0063a0003c0044t0004g0053others(2): Show | 5 | HG01975.hp2 HG02055.hp2 HG03579.hp2 others(2): Show |
intron_variant | MODIFIER | c.629-15077_629-1504 others(36): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479966 | ||||||
| chr5:128479966
|
CTCTCTCT others(27): Show |
C | 5 | a0002c0002t0005g0086a0002c0032t0009g0039a0002c0059t0005g0092others(2): Show | 5 | HG00639.hp1 HG01081.hp2 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.629-15079_629-1504 others(38): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479966 | ||||||
| chr5:128479966
|
CTCTCTCT others(29): Show |
C | 1 | a0027c0027t0008g0020 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.629-15081_629-1504 others(40): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479966 | ||||||
| chr5:128479966
|
CTCTCTCT others(31): Show |
C | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.629-15083_629-1504 others(42): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479966 | ||||||
| chr5:128479968
|
CTCTCTCT others(7): Show |
C | 1 | a0003c0016t0002g0043 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.629-15061_629-1504 others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479968 | ||||||
| chr5:128479968
|
CTCTCTCT others(19): Show |
C | 1 | a0001c0001t0002g0071 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.629-15073_629-1504 others(30): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479968 | ||||||
| chr5:128479968
|
CTCTCTCT others(21): Show |
C | 1 | a0001c0001t0001g0172 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.629-15075_629-1504 others(32): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479968 | ||||||
| chr5:128479968
|
CTCTCTCT others(23): Show |
C | 2 | a0001c0001t0003g0011a0002c0039t0005g0031 | 2 | HG01081.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.629-15077_629-1504 others(34): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479968 | ||||||
| chr5:128479968
|
CTCTCTCT others(25): Show |
C | 5 | a0001c0003t0006g0060a0001c0035t0009g0036a0002c0015t0010g0025others(2): Show | 5 | HG02818.hp2 HG02896.hp1 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.629-15079_629-1504 others(36): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479968 | ||||||
| chr5:128479968
|
CTCTCTCT others(27): Show |
C | 3 | a0003c0010t0002g0099a0003c0010t0024g0097a0021c0067t0004g0098 | 3 | HG02258.hp2 HG02572.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.629-15081_629-1504 others(38): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479968 | ||||||
| chr5:128479970
|
CTCTCTCT others(7): Show |
C | 2 | a0001c0008t0025g0115a0002c0041t0011g0029 | 2 | HG02647.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.629-15063_629-1505 others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479970 | ||||||
| chr5:128479970
|
CTCTCTCT others(9): Show |
C | 1 | a0002c0015t0008g0024 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.629-15065_629-1505 others(20): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479970 | ||||||
| chr5:128479970
|
CTCTCTCT others(11): Show |
C | 1 | a0001c0003t0005g0100 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.629-15067_629-1505 others(22): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479970 | ||||||
| chr5:128479970
|
CTCTCTCT others(15): Show |
C | 1 | a0004c0005t0001g0209 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.629-15071_629-1505 others(26): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479970 | ||||||
| chr5:128479970
|
CTCTCTCT others(17): Show |
C | 2 | a0001c0001t0001g0142a0001c0009t0006g0030 | 2 | HG01981.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.629-15073_629-1505 others(28): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479970 | ||||||
| chr5:128479970
|
CTCTCTCT others(23): Show |
C | 5 | a0001c0011t0009g0065a0001c0033t0005g0037a0002c0055t0008g0093others(2): Show | 5 | HG01069.hp1 HG01071.hp1 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.629-15079_629-1505 others(34): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479970 | ||||||
| chr5:128479972
|
CTCTCTAT others(1): Show |
C | 2 | a0001c0001t0001g0170a0010c0020t0001g0151 | 2 | HG00639.hp2 HG00735.hp2 |
intron_variant | MODIFIER | c.629-15059_629-1505 others(12): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479972 | ||||||
| chr5:128479972
|
CTCTCTAT others(3): Show |
C | 3 | a0001c0003t0001g0179a0001c0003t0001g0180a0001c0011t0022g0061 | 3 | HG02056.hp2 HG02572.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.629-15061_629-1505 others(14): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479972 | ||||||
| chr5:128479972
|
CTCTCTAT others(5): Show |
C | 2 | a0001c0009t0002g0040a0003c0004t0003g0001 | 2 | HG00741.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.629-15063_629-1505 others(16): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479972 | ||||||
| chr5:128479972
|
CTCTCTAT others(7): Show |
C | 1 | a0001c0045t0006g0026 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.629-15065_629-1505 others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479972 | ||||||
| chr5:128479972
|
CTCTCTAT others(9): Show |
C | 3 | a0001c0001t0003g0013a0001c0008t0029g0117a0002c0029t0027g0118 | 3 | HG02257.hp2 HG02886.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.629-15067_629-1505 others(20): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479972 | ||||||
| chr5:128479972
|
CTCTCTAT others(13): Show |
C | 3 | a0001c0011t0010g0104a0001c0021t0003g0010a0002c0002t0002g0068 | 3 | HG03195.hp1 HG03927.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.629-15071_629-1505 others(24): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479972 | ||||||
| chr5:128479972
|
CTCTCTAT others(15): Show |
C | 3 | a0001c0001t0001g0184a0001c0001t0001g0186a0001c0001t0001g0226 | 3 | HG00609.hp2 HG01928.hp2 HG02273.hp2 |
intron_variant | MODIFIER | c.629-15073_629-1505 others(26): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479972 | ||||||
| chr5:128479972
|
CTCTCTAT others(19): Show |
C | 2 | a0001c0001t0001g0164a0002c0002t0001g0168 | 2 | HG01346.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.629-15077_629-1505 others(30): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479972 | ||||||
| chr5:128479972
|
CTCTCTAT others(21): Show |
C | 2 | a0003c0007t0006g0057a0003c0007t0006g0058 | 2 | HG03041.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.629-15079_629-1505 others(32): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479972 | ||||||
| chr5:128479972
|
CTCTCTAT others(23): Show |
C | 2 | a0008c0042t0012g0054a0026c0070t0002g0105 | 2 | HG02922.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.629-15081_629-1505 others(34): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479972 | ||||||
| chr5:128479974
|
C | A | 2 | a0001c0001t0001g0152a0003c0013t0007g0171 | 2 | HG01346.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.629-15053G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479974 | ||||||
| chr5:128479974
|
CTCTA | C | 2 | a0001c0001t0001g0127a0001c0001t0001g0146 | 2 | HG03927.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.629-15057_629-1505 others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479974 | ||||||
| chr5:128479974
|
CTCTATA | C | 2 | a0001c0001t0001g0147a0002c0002t0001g0213 | 2 | HG00323.hp1 NA18975.hp1 |
intron_variant | MODIFIER | c.629-15059_629-1505 others(10): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479974 | ||||||
| chr5:128479974
|
CTCTATAT others(1): Show |
C | 3 | a0001c0001t0001g0229a0001c0003t0001g0174a0010c0020t0001g0149 | 3 | HG01109.hp1 HG01975.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.629-15061_629-1505 others(12): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479974 | ||||||
| chr5:128479974
|
CTCTATAT others(3): Show |
C | 3 | a0001c0003t0001g0190a0003c0006t0004g0050a0016c0056t0001g0189 | 3 | HG01952.hp1 HG01978.hp1 HG02273.hp1 |
intron_variant | MODIFIER | c.629-15063_629-1505 others(14): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479974 | ||||||
| chr5:128479974
|
CTCTATAT others(5): Show |
C | 1 | a0001c0003t0001g0177 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.629-15065_629-1505 others(16): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479974 | ||||||
| chr5:128479974
|
CTCTATAT others(7): Show |
C | 3 | a0001c0008t0006g0023a0003c0006t0004g0047a0004c0005t0001g0191 | 3 | HG01496.hp2 HG03516.hp1 NA18951.hp2 |
intron_variant | MODIFIER | c.629-15067_629-1505 others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479974 | ||||||
| chr5:128479974
|
CTCTATAT others(9): Show |
C | 4 | a0001c0003t0001g0204a0004c0005t0001g0195a0004c0005t0001g0199others(1): Show | 4 | HG01516.hp2 NA18956.hp2 NA18998.hp1 others(1): Show |
intron_variant | MODIFIER | c.629-15069_629-1505 others(20): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479974 | ||||||
| chr5:128479974
|
CTCTATAT others(11): Show |
C | 2 | a0003c0004t0003g0012a0004c0005t0001g0197 | 2 | HG03669.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.629-15071_629-1505 others(22): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479974 | ||||||
| chr5:128479974
|
CTCTATAT others(13): Show |
C | 4 | a0001c0003t0032g0141a0001c0009t0006g0028a0003c0010t0008g0085others(1): Show | 4 | HG01074.hp1 HG02717.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.629-15073_629-1505 others(24): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479974 | ||||||
| chr5:128479974
|
CTCTATAT others(15): Show |
C | 3 | a0001c0001t0001g0188a0001c0003t0001g0136a0001c0054t0001g0194 | 3 | HG00099.hp1 HG01192.hp1 NA19010.hp2 |
intron_variant | MODIFIER | c.629-15075_629-1505 others(26): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479974 | ||||||
| chr5:128479974
|
CTCTATAT others(17): Show |
C | 1 | a0017c0061t0031g0169 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.629-15077_629-1505 others(28): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479974 | ||||||
| chr5:128479974
|
CTCTATAT others(21): Show |
C | 1 | a0022c0066t0021g0101 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.629-15081_629-1505 others(32): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479974 | ||||||
| chr5:128479976
|
C | A | 4 | a0001c0001t0001g0152a0002c0002t0001g0224a0003c0013t0007g0171others(1): Show | 4 | HG01346.hp2 HG03669.hp1 NA19056.hp1 others(1): Show |
intron_variant | MODIFIER | c.629-15055G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479976 | ||||||
| chr5:128479976
|
CTA | C | 8 | a0001c0001t0001g0144a0001c0001t0001g0162a0001c0001t0001g0231others(5): Show | 8 | HG00558.hp1 HG01071.hp2 HG02523.hp2 others(5): Show |
intron_variant | MODIFIER | c.629-15057_629-1505 others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479976 | ||||||
| chr5:128479976
|
CTATA | C | 5 | a0001c0001t0001g0153a0002c0002t0001g0165a0002c0002t0001g0219others(2): Show | 5 | HG00140.hp2 HG02129.hp2 NA18990.hp2 others(2): Show |
intron_variant | MODIFIER | c.629-15059_629-1505 others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479976 | ||||||
| chr5:128479976
|
CTATATA | C | 5 | a0001c0001t0001g0150a0001c0001t0030g0119a0002c0002t0001g0135others(2): Show | 5 | HG01074.hp2 HG01358.hp1 NA18960.hp1 others(2): Show |
intron_variant | MODIFIER | c.629-15061_629-1505 others(10): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479976 | ||||||
| chr5:128479976
|
CTATATAT others(1): Show |
C | 7 | a0001c0001t0001g0143a0001c0001t0001g0154a0002c0002t0001g0163others(4): Show | 7 | HG00741.hp2 HG01069.hp2 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.629-15063_629-1505 others(12): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479976 | ||||||
| chr5:128479976
|
CTATATAT others(3): Show |
C | 11 | a0001c0001t0001g0175a0001c0003t0001g0176a0001c0003t0001g0178others(8): Show | 11 | HG00735.hp1 HG01109.hp2 HG02155.hp1 others(8): Show |
intron_variant | MODIFIER | c.629-15065_629-1505 others(14): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479976 | ||||||
| chr5:128479976
|
CTATATAT others(5): Show |
C | 4 | a0001c0001t0001g0156a0001c0001t0001g0227a0002c0002t0001g0207others(1): Show | 4 | HG01928.hp1 HG02083.hp2 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.629-15067_629-1505 others(16): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479976 | ||||||
| chr5:128479976
|
CTATATAT others(7): Show |
C | 8 | a0001c0003t0001g0201a0002c0002t0001g0183a0002c0023t0038g0235others(5): Show | 8 | HG00099.hp2 HG00609.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.629-15069_629-1505 others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479976 | ||||||
| chr5:128479976
|
CTATATAT others(9): Show |
C | 6 | a0001c0028t0002g0022a0001c0057t0001g0202a0003c0004t0033g0128others(3): Show | 6 | HG01358.hp2 HG02145.hp2 HG02155.hp2 others(3): Show |
intron_variant | MODIFIER | c.629-15071_629-1505 others(20): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479976 | ||||||
| chr5:128479976
|
CTATATAT others(11): Show |
C | 3 | a0001c0003t0001g0140a0001c0003t0001g0182a0004c0005t0001g0200 | 3 | HG02109.hp1 HG03654.hp1 NA19058.hp2 |
intron_variant | MODIFIER | c.629-15073_629-1505 others(22): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479976 | ||||||
| chr5:128479976
|
CTATATAT others(13): Show |
C | 9 | a0001c0003t0001g0185a0003c0004t0001g0124a0003c0004t0001g0129others(6): Show | 9 | HG00140.hp1 HG01106.hp2 HG01192.hp2 others(6): Show |
intron_variant | MODIFIER | c.629-15075_629-1505 others(24): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479976 | ||||||
| chr5:128479976
|
CTATATAT others(15): Show |
C | 1 | a0001c0021t0001g0206 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.629-15077_629-1505 others(26): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479976 | ||||||
| chr5:128479978
|
A | C | 27 | a0001c0003t0001g0173a0001c0003t0017g0004a0001c0008t0028g0113others(24): Show | 27 | HG01256.hp2 HG02129.hp1 HG02257.hp1 others(24): Show |
intron_variant | MODIFIER | c.629-15057T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479978 | ||||||
| chr5:128479980
|
A | C | 28 | a0001c0001t0001g0144a0001c0001t0001g0162a0001c0001t0001g0231others(25): Show | 28 | HG00558.hp1 HG01071.hp2 HG02523.hp2 others(25): Show |
intron_variant | MODIFIER | c.629-15059T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479980 | ||||||
| chr5:128479982
|
A | C | 26 | a0001c0001t0001g0144a0001c0001t0001g0153a0001c0001t0001g0162others(23): Show | 26 | HG00140.hp2 HG00558.hp1 HG01071.hp2 others(23): Show |
intron_variant | MODIFIER | c.629-15061T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479982 | ||||||
| chr5:128479984
|
A | C | 26 | a0001c0001t0001g0153a0001c0001t0001g0162a0001c0001t0001g0231others(23): Show | 26 | HG00140.hp2 HG00558.hp1 HG01074.hp2 others(23): Show |
intron_variant | MODIFIER | c.629-15063T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479984 | ||||||
| chr5:128479986
|
A | C | 19 | a0001c0001t0001g0153a0001c0001t0001g0154a0001c0001t0001g0162others(16): Show | 19 | HG00140.hp2 HG00558.hp1 HG01069.hp2 others(16): Show |
intron_variant | MODIFIER | c.629-15065T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479986 | ||||||
| chr5:128479988
|
A | C | 20 | a0001c0001t0001g0154a0001c0001t0001g0162a0001c0001t0001g0231others(17): Show | 20 | HG00558.hp1 HG01069.hp2 HG01074.hp2 others(17): Show |
intron_variant | MODIFIER | c.629-15067T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479988 | ||||||
| chr5:128479990
|
A | C | 18 | a0001c0001t0001g0154a0001c0001t0001g0162a0001c0001t0001g0227others(15): Show | 18 | HG00558.hp1 HG01069.hp2 HG01109.hp2 others(15): Show |
intron_variant | MODIFIER | c.629-15069T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479990 | ||||||
| chr5:128479992
|
A | C | 20 | a0001c0001t0001g0162a0001c0001t0001g0227a0001c0001t0001g0231others(17): Show | 20 | HG00099.hp2 HG00558.hp1 HG00609.hp1 others(17): Show |
intron_variant | MODIFIER | c.629-15071T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479992 | ||||||
| chr5:128479994
|
A | C | 17 | a0001c0001t0001g0162a0001c0001t0001g0227a0001c0001t0001g0231others(14): Show | 17 | HG00099.hp2 HG00558.hp1 HG00609.hp1 others(14): Show |
intron_variant | MODIFIER | c.629-15073T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479994 | ||||||
| chr5:128479996
|
A | C | 14 | a0001c0001t0001g0162a0001c0001t0001g0227a0001c0001t0001g0231others(11): Show | 14 | HG00099.hp2 HG00558.hp1 HG01109.hp2 others(11): Show |
intron_variant | MODIFIER | c.629-15075T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479996 | ||||||
| chr5:128479998
|
A | C | 14 | a0001c0001t0001g0227a0001c0001t0001g0231a0001c0003t0001g0140others(11): Show | 14 | HG00140.hp1 HG00558.hp1 HG01109.hp2 others(11): Show |
intron_variant | MODIFIER | c.629-15077T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128479998 | ||||||
| chr5:128480000
|
A | C | 10 | a0001c0001t0001g0227a0001c0001t0001g0231a0001c0003t0001g0140others(7): Show | 10 | HG00140.hp1 HG00323.hp2 HG00558.hp1 others(7): Show |
intron_variant | MODIFIER | c.629-15079T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480000 | ||||||
| chr5:128480002
|
A | C | 5 | a0001c0003t0001g0181a0001c0021t0001g0206a0003c0004t0036g0233others(2): Show | 5 | HG00140.hp1 HG00323.hp2 HG01109.hp2 others(2): Show |
intron_variant | MODIFIER | c.629-15081T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480002 | ||||||
| chr5:128480004
|
A | C | 1 | a0003c0004t0036g0233 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.629-15083T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480004 | ||||||
| chr5:128480006
|
A | C | 1 | a0003c0004t0036g0233 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.629-15085T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480006 | ||||||
| chr5:128480006
|
A | G | 8 | a0001c0001t0003g0002a0001c0008t0028g0113a0003c0006t0004g0044others(5): Show | 8 | HG01258.hp1 HG02129.hp1 HG02257.hp1 others(5): Show |
intron_variant | MODIFIER | c.629-15085T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480006 | ||||||
| chr5:128480008
|
A | G | 8 | a0001c0003t0017g0004a0003c0004t0002g0090a0003c0006t0004g0045others(5): Show | 8 | HG01256.hp2 HG03834.hp1 HG04115.hp1 others(5): Show |
intron_variant | MODIFIER | c.629-15087T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480008 | ||||||
| chr5:128480008
|
ATATATAT others(9): Show |
A | 6 | a0001c0001t0003g0002a0005c0017t0003g0015a0005c0019t0003g0006others(3): Show | 6 | HG02129.hp1 HG02257.hp1 HG02698.hp2 others(3): Show |
intron_variant | MODIFIER | c.629-15103_629-1508 others(20): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480008 | ||||||
| chr5:128480010
|
A | G | 3 | a0001c0014t0014g0112a0003c0006t0004g0042a0018c0030t0008g0021 | 3 | HG02965.hp2 HG03239.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.629-15089T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480010 | ||||||
| chr5:128480010
|
ATATATAT others(7): Show |
A | 7 | a0001c0003t0017g0004a0001c0008t0028g0113a0003c0004t0002g0090others(4): Show | 7 | HG01258.hp1 HG02630.hp1 HG03834.hp1 others(4): Show |
intron_variant | MODIFIER | c.629-15103_629-1509 others(18): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480010 | ||||||
| chr5:128480012
|
A | G | 4 | a0001c0003t0001g0173a0001c0009t0002g0049a0024c0068t0002g0106others(1): Show | 4 | HG02630.hp2 HG03831.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.629-15091T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480012 | ||||||
| chr5:128480012
|
ATATATAT others(5): Show |
A | 3 | a0003c0006t0004g0045a0003c0006t0004g0046a0003c0006t0004g0048 | 3 | HG01256.hp2 NA18964.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.629-15103_629-1509 others(16): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480012 | ||||||
| chr5:128480014
|
A | G | 1 | a0003c0006t0004g0051 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.629-15093T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480014 | ||||||
| chr5:128480014
|
ATATATAT others(3): Show |
A | 5 | a0001c0003t0001g0173a0001c0014t0014g0112a0003c0006t0004g0042others(2): Show | 5 | HG02630.hp2 HG03239.hp2 HG06807.hp1 others(2): Show |
intron_variant | MODIFIER | c.629-15103_629-1509 others(14): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480014 | ||||||
| chr5:128480015
|
TATATATA others(9): Show |
T | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.629-15110_629-1509 others(20): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480015 | ||||||
| chr5:128480016
|
A | G | 1 | a0001c0031t0026g0116 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.629-15095T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480016 | ||||||
| chr5:128480018
|
A | G | 1 | a0001c0011t0022g0061 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.629-15097T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480018 | ||||||
| chr5:128480020
|
A | G | 12 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0009t0002g0040others(9): Show | 12 | HG01496.hp2 HG02257.hp2 HG02273.hp1 others(9): Show |
intron_variant | MODIFIER | c.629-15099T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480020 | ||||||
| chr5:128480022
|
A | G | 6 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0003t0001g0174others(3): Show | 6 | HG00741.hp1 HG01516.hp2 HG03669.hp2 others(3): Show |
intron_variant | MODIFIER | c.629-15101T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480022 | ||||||
| chr5:128480024
|
G | A | 20 | a0001c0001t0001g0157a0001c0001t0003g0013a0001c0001t0003g0014others(17): Show | 20 | HG00741.hp1 HG01496.hp2 HG01516.hp2 others(17): Show |
intron_variant | MODIFIER | c.629-15103C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480024 | ||||||
| chr5:128480025
|
T | C | 1 | a0001c0011t0022g0061 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.629-15104A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480025 | ||||||
| chr5:128480026
|
A | G | 1 | a0001c0001t0001g0170 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.629-15105T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480026 | ||||||
| chr5:128480027
|
T | C | 23 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0008t0028g0113others(20): Show | 23 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(20): Show |
intron_variant | MODIFIER | c.629-15106A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480027 | ||||||
| chr5:128480029
|
T | C | 43 | a0001c0001t0003g0002a0001c0001t0003g0013a0001c0001t0003g0014others(40): Show | 43 | HG00741.hp1 HG01256.hp2 HG01258.hp1 others(40): Show |
intron_variant | MODIFIER | c.629-15108A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480029 | ||||||
| chr5:128480029
|
TAC | T | 5 | a0001c0001t0001g0147a0001c0001t0001g0148a0003c0004t0002g0063others(2): Show | 5 | HG00323.hp1 HG02683.hp1 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.629-15110_629-1510 others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480029 | ||||||
| chr5:128480031
|
C | T | 1 | a0001c0001t0001g0157 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.629-15110G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480031 | ||||||
| chr5:128480376
|
G | A | 115 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(112): Show | 115 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(112): Show |
intron_variant | MODIFIER | c.629-15455C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480376 | ||||||
| chr5:128480397
|
G | C | 2 | a0002c0032t0009g0039a0002c0034t0004g0038 | 2 | HG02109.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.629-15476C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480397 | ||||||
| chr5:128480488
|
A | G | 41 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(38): Show | 41 | HG00099.hp2 HG00741.hp1 HG01081.hp1 others(38): Show |
intron_variant | MODIFIER | c.629-15567T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480488 | ||||||
| chr5:128480728
|
T | C | 41 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(38): Show | 41 | HG00099.hp2 HG00741.hp1 HG01081.hp1 others(38): Show |
intron_variant | MODIFIER | c.629-15807A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480728 | ||||||
| chr5:128480740
|
G | T | 5 | a0003c0007t0006g0055a0003c0007t0006g0056a0003c0007t0006g0057others(2): Show | 5 | HG01069.hp1 HG01071.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.629-15819C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480740 | ||||||
| chr5:128480867
|
C | T | 1 | a0001c0003t0001g0201 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.629-15946G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480867 | ||||||
| chr5:128480937
|
CA | C | 9 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(6): Show | 9 | HG00735.hp2 HG00741.hp2 HG01069.hp2 others(6): Show |
intron_variant | MODIFIER | c.629-16017delT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128480937 | ||||||
| chr5:128481028
|
G | A | 2 | a0002c0023t0038g0235a0022c0066t0021g0101 | 2 | HG02280.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.629-16107C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128481028 | ||||||
| chr5:128481153
|
A | T | 6 | a0002c0039t0005g0031a0003c0007t0006g0055a0003c0007t0006g0056others(3): Show | 6 | HG01069.hp1 HG01071.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.629-16232T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128481153 | ||||||
| chr5:128481169
|
T | C | 23 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0008t0028g0113others(20): Show | 23 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(20): Show |
intron_variant | MODIFIER | c.629-16248A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128481169 | ||||||
| chr5:128481180
|
GA | G | 137 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(134): Show | 137 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(134): Show |
intron_variant | MODIFIER | c.629-16260delT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128481180 | ||||||
| chr5:128481190
|
A | C | 2 | a0003c0044t0004g0053a0020c0043t0019g0018 | 2 | HG01496.hp1 HG02055.hp2 |
intron_variant | MODIFIER | c.629-16269T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128481190 | ||||||
| chr5:128481231
|
A | G | 1 | a0003c0006t0004g0048 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.629-16310T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128481231 | ||||||
| chr5:128481391
|
T | C | 1 | a0001c0001t0002g0073 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.629-16470A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128481391 | ||||||
| chr5:128481737
|
C | T | 1 | a0020c0043t0019g0018 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.629-16816G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128481737 | ||||||
| chr5:128481792
|
T | C | 3 | a0003c0044t0004g0053a0020c0043t0019g0018a0027c0027t0008g0020 | 3 | HG01496.hp1 HG02055.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.629-16871A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128481792 | ||||||
| chr5:128481856
|
T | C | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.629-16935A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128481856 | ||||||
| chr5:128481896
|
G | A | 22 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(19): Show | 22 | HG00558.hp2 HG01516.hp1 HG01952.hp2 others(19): Show |
intron_variant | MODIFIER | c.629-16975C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128481896 | ||||||
| chr5:128481958
|
C | A | 110 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(107): Show | 110 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(107): Show |
intron_variant | MODIFIER | c.629-17037G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128481958 | ||||||
| chr5:128482056
|
G | A | 1 | a0001c0011t0010g0104 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.629-17135C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128482056 | ||||||
| chr5:128482446
|
T | C | 10 | a0001c0001t0001g0175a0001c0003t0001g0174a0001c0003t0001g0176others(7): Show | 10 | HG00735.hp1 HG01952.hp1 HG01978.hp1 others(7): Show |
intron_variant | MODIFIER | c.629-17525A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128482446 | ||||||
| chr5:128482517
|
C | T | 2 | a0001c0035t0009g0036a0002c0038t0004g0035 | 2 | HG03471.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.629-17596G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128482517 | ||||||
| chr5:128482644
|
T | A | 2 | a0002c0032t0009g0039a0002c0034t0004g0038 | 2 | HG02109.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.629-17723A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128482644 | ||||||
| chr5:128482862
|
G | A | 1 | a0002c0023t0038g0235 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.629-17941C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128482862 | ||||||
| chr5:128483162
|
T | G | 2 | a0002c0060t0007g0228a0004c0005t0001g0214 | 2 | HG02129.hp2 NA19056.hp1 |
intron_variant | MODIFIER | c.629-18241A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128483162 | ||||||
| chr5:128483197
|
T | G | 69 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(66): Show | 69 | HG00099.hp2 HG00741.hp1 HG01081.hp1 others(66): Show |
intron_variant | MODIFIER | c.629-18276A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128483197 | ||||||
| chr5:128483209
|
C | T | 1 | a0003c0004t0033g0128 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.629-18288G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128483209 | ||||||
| chr5:128483211
|
C | G | 1 | a0002c0029t0027g0118 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.629-18290G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128483211 | ||||||
| chr5:128483371
|
G | A | 1 | a0003c0004t0001g0129 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.629-18450C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128483371 | ||||||
| chr5:128483439
|
G | A | 15 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(12): Show | 15 | HG00741.hp1 HG01081.hp1 HG02129.hp1 others(12): Show |
intron_variant | MODIFIER | c.629-18518C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128483439 | ||||||
| chr5:128483504
|
G | GT | 5 | a0001c0008t0006g0023a0001c0028t0002g0022a0001c0045t0006g0026others(2): Show | 5 | HG02055.hp1 HG02145.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.629-18584dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128483504 | ||||||
| chr5:128483659
|
G | A | 1 | a0002c0002t0001g0217 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.629-18738C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128483659 | ||||||
| chr5:128483729
|
A | G | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.629-18808T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128483729 | ||||||
| chr5:128483951
|
C | T | 22 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(19): Show | 22 | HG00558.hp2 HG01516.hp1 HG01952.hp2 others(19): Show |
intron_variant | MODIFIER | c.629-19030G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128483951 | ||||||
| chr5:128483999
|
T | A | 1 | a0003c0006t0004g0048 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.629-19078A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128483999 | ||||||
| chr5:128484024
|
C | T | 1 | a0003c0016t0037g0234 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.629-19103G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128484024 | ||||||
| chr5:128484108
|
T | C | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.629-19187A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128484108 | ||||||
| chr5:128484121
|
A | G | 1 | a0001c0001t0003g0002 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.629-19200T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128484121 | ||||||
| chr5:128484122
|
T | C | 1 | a0003c0004t0002g0089 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.629-19201A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128484122 | ||||||
| chr5:128484143
|
T | C | 69 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(66): Show | 69 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(66): Show |
intron_variant | MODIFIER | c.629-19222A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128484143 | ||||||
| chr5:128484163
|
T | C | 1 | a0002c0023t0038g0235 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.629-19242A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128484163 | ||||||
| chr5:128484183
|
T | C | 1 | a0001c0001t0001g0184 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.629-19262A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128484183 | ||||||
| chr5:128484195
|
T | C | 41 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(38): Show | 41 | HG00099.hp2 HG00741.hp1 HG01081.hp1 others(38): Show |
intron_variant | MODIFIER | c.629-19274A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128484195 | ||||||
| chr5:128484222
|
G | C | 1 | a0003c0004t0003g0012 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.629-19301C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128484222 | ||||||
| chr5:128484243
|
G | A | 1 | a0003c0004t0002g0103 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.629-19322C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128484243 | ||||||
| chr5:128484275
|
A | G | 2 | a0002c0032t0009g0039a0002c0034t0004g0038 | 2 | HG02109.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.629-19354T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128484275 | ||||||
| chr5:128484308
|
A | G | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.629-19387T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128484308 | ||||||
| chr5:128484408
|
A | G | 1 | a0003c0044t0004g0053 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.629-19487T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128484408 | ||||||
| chr5:128484540
|
T | C | 1 | a0001c0001t0001g0154 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.629-19619A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128484540 | ||||||
| chr5:128484840
|
A | G | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.629-19919T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128484840 | ||||||
| chr5:128484844
|
C | T | 23 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0008t0028g0113others(20): Show | 23 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(20): Show |
intron_variant | MODIFIER | c.629-19923G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128484844 | ||||||
| chr5:128484904
|
G | A | 1 | a0002c0002t0001g0225 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.629-19983C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128484904 | ||||||
| chr5:128485029
|
C | CT | 69 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(66): Show | 69 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(66): Show |
intron_variant | MODIFIER | c.629-20109dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128485029 | ||||||
| chr5:128485029
|
C | CTT | 69 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(66): Show | 69 | HG00099.hp2 HG00741.hp1 HG01081.hp1 others(66): Show |
intron_variant | MODIFIER | c.629-20110_629-2010 others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128485029 | ||||||
| chr5:128485228
|
GC | G | 3 | a0001c0001t0001g0142a0001c0001t0001g0164a0001c0021t0001g0206 | 3 | HG00323.hp2 HG01346.hp1 HG01981.hp1 |
intron_variant | MODIFIER | c.629-20308delG | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128485228 | ||||||
| chr5:128485413
|
T | C | 2 | a0005c0017t0003g0008a0023c0051t0003g0005 | 2 | HG02129.hp1 NA18984.hp2 |
intron_variant | MODIFIER | c.629-20492A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128485413 | ||||||
| chr5:128485416
|
A | T | 1 | a0001c0001t0002g0082 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.629-20495T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128485416 | ||||||
| chr5:128485419
|
T | C | 41 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(38): Show | 41 | HG00099.hp2 HG00741.hp1 HG01081.hp1 others(38): Show |
intron_variant | MODIFIER | c.629-20498A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128485419 | ||||||
| chr5:128485541
|
AT | A | 7 | a0001c0008t0025g0115a0001c0008t0028g0113a0001c0011t0022g0061others(4): Show | 7 | HG02257.hp2 HG02572.hp1 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.629-20621delA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128485541 | ||||||
| chr5:128485544
|
A | T | 7 | a0001c0008t0025g0115a0001c0008t0028g0113a0001c0011t0022g0061others(4): Show | 7 | HG02257.hp2 HG02572.hp1 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.629-20623T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128485544 | ||||||
| chr5:128485548
|
C | A | 7 | a0001c0008t0025g0115a0001c0008t0028g0113a0001c0011t0022g0061others(4): Show | 7 | HG02257.hp2 HG02572.hp1 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.629-20627G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128485548 | ||||||
| chr5:128485558
|
C | G | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.629-20637G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128485558 | ||||||
| chr5:128485982
|
A | G | 69 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(66): Show | 69 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(66): Show |
intron_variant | MODIFIER | c.629-21061T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128485982 | ||||||
| chr5:128486158
|
CCT | C | 23 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0008t0028g0113others(20): Show | 23 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(20): Show |
intron_variant | MODIFIER | c.629-21239_629-2123 others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128486158 | ||||||
| chr5:128486298
|
G | A | 3 | a0001c0001t0001g0157a0001c0001t0001g0158a0001c0001t0001g0159 | 3 | HG03654.hp2 HG04199.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.629-21377C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128486298 | ||||||
| chr5:128486659
|
C | T | 23 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0008t0028g0113others(20): Show | 23 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(20): Show |
intron_variant | MODIFIER | c.629-21738G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128486659 | ||||||
| chr5:128486835
|
T | C | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.629-21914A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128486835 | ||||||
| chr5:128486852
|
A | T | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.629-21931T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128486852 | ||||||
| chr5:128487081
|
G | A | 1 | a0002c0002t0005g0086 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.629-22160C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128487081 | ||||||
| chr5:128487082
|
G | A | 1 | a0002c0002t0005g0086 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.629-22161C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128487082 | ||||||
| chr5:128487183
|
C | T | 69 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(66): Show | 69 | HG00099.hp2 HG00741.hp1 HG01081.hp1 others(66): Show |
intron_variant | MODIFIER | c.629-22262G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128487183 | ||||||
| chr5:128487570
|
G | A | 1 | a0001c0001t0001g0175 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.629-22649C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128487570 | ||||||
| chr5:128487685
|
CTTTA | C | 69 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(66): Show | 69 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(66): Show |
intron_variant | MODIFIER | c.629-22768_629-2276 others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128487685 | ||||||
| chr5:128487859
|
A | C | 41 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(38): Show | 41 | HG00099.hp2 HG00741.hp1 HG01081.hp1 others(38): Show |
intron_variant | MODIFIER | c.629-22938T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128487859 | ||||||
| chr5:128487859
|
A | G | 1 | a0001c0058t0020g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.629-22938T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128487859 | ||||||
| chr5:128487949
|
G | C | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.629-23028C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128487949 | ||||||
| chr5:128488013
|
G | C | 11 | a0001c0009t0002g0040a0001c0009t0002g0049a0003c0006t0004g0042others(8): Show | 11 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(8): Show |
intron_variant | MODIFIER | c.629-23092C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128488013 | ||||||
| chr5:128488083
|
T | C | 1 | a0008c0063t0012g0096 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.629-23162A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128488083 | ||||||
| chr5:128488196
|
A | T | 3 | a0002c0002t0005g0086a0003c0004t0006g0095a0008c0063t0012g0096 | 3 | HG00639.hp1 HG02922.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.629-23275T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128488196 | ||||||
| chr5:128488204
|
CA | C | 97 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(94): Show | 97 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(94): Show |
intron_variant | MODIFIER | c.629-23284delT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128488204 | ||||||
| chr5:128488271
|
G | A | 1 | a0001c0050t0001g0208 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.629-23350C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128488271 | ||||||
| chr5:128488293
|
G | T | 69 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(66): Show | 69 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(66): Show |
intron_variant | MODIFIER | c.629-23372C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128488293 | ||||||
| chr5:128488312
|
A | T | 1 | a0001c0001t0002g0070 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.629-23391T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128488312 | ||||||
| chr5:128488475
|
T | G | 1 | a0025c0069t0005g0109 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.629-23554A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128488475 | ||||||
| chr5:128488476
|
C | T | 2 | a0001c0003t0001g0136a0001c0003t0001g0185 | 2 | HG01106.hp2 HG01192.hp1 |
intron_variant | MODIFIER | c.629-23555G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128488476 | ||||||
| chr5:128488625
|
A | T | 41 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(38): Show | 41 | HG00099.hp2 HG00741.hp1 HG01081.hp1 others(38): Show |
intron_variant | MODIFIER | c.629-23704T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128488625 | ||||||
| chr5:128488835
|
A | C | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.629-23914T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128488835 | ||||||
| chr5:128488892
|
A | G | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.629-23971T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128488892 | ||||||
| chr5:128488998
|
T | C | 69 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(66): Show | 69 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(66): Show |
intron_variant | MODIFIER | c.629-24077A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128488998 | ||||||
| chr5:128489136
|
A | AT | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.629-24216dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128489136 | ||||||
| chr5:128489288
|
A | C | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.629-24367T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128489288 | ||||||
| chr5:128489440
|
GC | G | 69 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(66): Show | 69 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(66): Show |
intron_variant | MODIFIER | c.629-24520delG | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128489440 | ||||||
| chr5:128489718
|
AATT | A | 3 | a0003c0004t0002g0063a0003c0004t0002g0064a0003c0004t0005g0062 | 3 | HG02896.hp1 HG03579.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.629-24800_629-2479 others(7): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128489718 | ||||||
| chr5:128489792
|
C | T | 23 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0008t0028g0113others(20): Show | 23 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(20): Show |
intron_variant | MODIFIER | c.629-24871G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128489792 | ||||||
| chr5:128489810
|
T | C | 4 | a0001c0021t0003g0010a0003c0010t0008g0085a0003c0013t0016g0003others(1): Show | 4 | HG01074.hp1 HG02818.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.629-24889A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128489810 | ||||||
| chr5:128489873
|
C | T | 1 | a0022c0066t0021g0101 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.629-24952G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128489873 | ||||||
| chr5:128490264
|
A | G | 19 | a0001c0003t0001g0201a0001c0003t0001g0204a0001c0050t0001g0208others(16): Show | 19 | HG00099.hp2 HG01358.hp2 HG01361.hp1 others(16): Show |
intron_variant | MODIFIER | c.629-25343T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128490264 | ||||||
| chr5:128490342
|
G | A | 2 | a0001c0036t0004g0032a0003c0007t0002g0033 | 2 | HG01884.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.629-25421C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128490342 | ||||||
| chr5:128490402
|
A | C | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.629-25481T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128490402 | ||||||
| chr5:128490586
|
G | A | 28 | a0001c0003t0005g0100a0001c0008t0006g0023a0001c0008t0025g0115others(25): Show | 28 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(25): Show |
intron_variant | MODIFIER | c.629-25665C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128490586 | ||||||
| chr5:128490630
|
C | T | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.629-25709G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128490630 | ||||||
| chr5:128490697
|
C | G | 1 | a0022c0066t0021g0101 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.629-25776G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128490697 | ||||||
| chr5:128490733
|
G | A | 1 | a0026c0070t0002g0105 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.629-25812C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128490733 | ||||||
| chr5:128490760
|
T | C | 69 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(66): Show | 69 | HG00099.hp2 HG00741.hp1 HG01081.hp1 others(66): Show |
intron_variant | MODIFIER | c.629-25839A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128490760 | ||||||
| chr5:128490761
|
G | A | 3 | a0001c0045t0006g0026a0003c0006t0004g0051a0019c0046t0010g0027 | 3 | HG02559.hp1 HG03195.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.629-25840C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128490761 | ||||||
| chr5:128490844
|
A | G | 1 | a0001c0003t0001g0181 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.629-25923T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128490844 | ||||||
| chr5:128490898
|
T | G | 19 | a0001c0003t0001g0201a0001c0003t0001g0204a0001c0050t0001g0208others(16): Show | 19 | HG00099.hp2 HG01358.hp2 HG01361.hp1 others(16): Show |
intron_variant | MODIFIER | c.629-25977A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128490898 | ||||||
| chr5:128491000
|
A | G | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.629-26079T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128491000 | ||||||
| chr5:128491061
|
TTA | T | 69 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(66): Show | 69 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(66): Show |
intron_variant | MODIFIER | c.629-26142_629-2614 others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128491061 | ||||||
| chr5:128491207
|
A | G | 1 | a0015c0049t0002g0066 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.629-26286T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128491207 | ||||||
| chr5:128491326
|
A | C | 5 | a0001c0008t0006g0023a0001c0028t0002g0022a0002c0023t0038g0235others(2): Show | 5 | HG02145.hp2 HG02280.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.629-26405T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128491326 | ||||||
| chr5:128491469
|
A | G | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.629-26548T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128491469 | ||||||
| chr5:128491650
|
T | C | 1 | a0001c0001t0002g0076 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.629-26729A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128491650 | ||||||
| chr5:128491736
|
T | G | 5 | a0001c0008t0006g0023a0001c0028t0002g0022a0002c0023t0038g0235others(2): Show | 5 | HG02145.hp2 HG02280.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.629-26815A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128491736 | ||||||
| chr5:128492191
|
T | G | 1 | a0001c0008t0029g0117 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.628+27082A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128492191 | ||||||
| chr5:128492310
|
T | A | 2 | a0001c0008t0006g0023a0001c0028t0002g0022 | 2 | HG02145.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.628+26963A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128492310 | ||||||
| chr5:128492367
|
A | G | 13 | a0001c0001t0005g0087a0002c0002t0005g0086a0002c0059t0005g0092others(10): Show | 13 | HG00639.hp1 HG01081.hp2 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.628+26906T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128492367 | ||||||
| chr5:128492491
|
G | A | 1 | a0014c0053t0039g0236 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.628+26782C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128492491 | ||||||
| chr5:128492573
|
C | T | 1 | a0002c0002t0001g0212 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.628+26700G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128492573 | ||||||
| chr5:128492624
|
T | G | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.628+26649A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128492624 | ||||||
| chr5:128492690
|
C | T | 23 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0008t0028g0113others(20): Show | 23 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(20): Show |
intron_variant | MODIFIER | c.628+26583G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128492690 | ||||||
| chr5:128492707
|
G | T | 14 | a0001c0003t0006g0060a0001c0011t0009g0065a0001c0033t0005g0037others(11): Show | 14 | HG01496.hp1 HG01884.hp2 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.628+26566C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128492707 | ||||||
| chr5:128492735
|
A | G | 97 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(94): Show | 97 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(94): Show |
intron_variant | MODIFIER | c.628+26538T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128492735 | ||||||
| chr5:128492757
|
C | T | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.628+26516G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128492757 | ||||||
| chr5:128492800
|
T | A | 8 | a0001c0021t0003g0010a0003c0004t0002g0063a0003c0004t0002g0064others(5): Show | 8 | HG01074.hp1 HG02818.hp1 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.628+26473A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128492800 | ||||||
| chr5:128492803
|
C | CA | 9 | a0001c0001t0001g0146a0001c0001t0030g0119a0001c0048t0001g0120others(6): Show | 9 | HG01074.hp2 HG01978.hp1 HG04115.hp2 others(6): Show |
intron_variant | MODIFIER | c.628+26469dupT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128492803 | ||||||
| chr5:128492803
|
CA | C | 15 | a0001c0001t0001g0126a0001c0001t0001g0147a0001c0001t0001g0148others(12): Show | 15 | HG00323.hp1 HG00323.hp2 HG01975.hp2 others(12): Show |
intron_variant | MODIFIER | c.628+26469delT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128492803 | ||||||
| chr5:128492803
|
CAA | C | 25 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(22): Show | 25 | HG00558.hp2 HG01516.hp1 HG01952.hp2 others(22): Show |
intron_variant | MODIFIER | c.628+26468_628+2646 others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128492803 | ||||||
| chr5:128492803
|
CAAA | C | 46 | a0001c0001t0002g0079a0001c0001t0005g0087a0001c0003t0005g0100others(43): Show | 46 | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(43): Show |
intron_variant | MODIFIER | c.628+26467_628+2646 others(7): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128492803 | ||||||
| chr5:128492803
|
CAAAA | C | 25 | a0001c0003t0006g0060a0001c0008t0006g0023a0001c0011t0009g0065others(22): Show | 25 | HG01074.hp1 HG01496.hp1 HG01884.hp2 others(22): Show |
intron_variant | MODIFIER | c.628+26466_628+2646 others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128492803 | ||||||
| chr5:128493025
|
G | A | 97 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(94): Show | 97 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(94): Show |
intron_variant | MODIFIER | c.628+26248C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128493025 | ||||||
| chr5:128493177
|
G | C | 2 | a0002c0032t0009g0039a0002c0034t0004g0038 | 2 | HG02109.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.628+26096C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128493177 | ||||||
| chr5:128493287
|
G | T | 97 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(94): Show | 97 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(94): Show |
intron_variant | MODIFIER | c.628+25986C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128493287 | ||||||
| chr5:128493324
|
T | G | 69 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(66): Show | 69 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(66): Show |
intron_variant | MODIFIER | c.628+25949A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128493324 | ||||||
| chr5:128493382
|
A | T | 1 | a0007c0022t0001g0216 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.628+25891T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128493382 | ||||||
| chr5:128493479
|
C | T | 1 | a0004c0005t0001g0232 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.628+25794G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128493479 | ||||||
| chr5:128493538
|
T | C | 3 | a0001c0011t0009g0065a0001c0033t0005g0037a0002c0055t0008g0093 | 3 | HG02559.hp2 NA18522.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.628+25735A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128493538 | ||||||
| chr5:128493591
|
G | A | 13 | a0001c0001t0005g0087a0002c0002t0005g0086a0002c0059t0005g0092others(10): Show | 13 | HG00639.hp1 HG01081.hp2 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.628+25682C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128493591 | ||||||
| chr5:128493656
|
C | A | 5 | a0001c0008t0006g0023a0001c0028t0002g0022a0002c0023t0038g0235others(2): Show | 5 | HG02145.hp2 HG02280.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.628+25617G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128493656 | ||||||
| chr5:128493684
|
T | C | 69 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(66): Show | 69 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(66): Show |
intron_variant | MODIFIER | c.628+25589A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128493684 | ||||||
| chr5:128493829
|
T | C | 23 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0008t0028g0113others(20): Show | 23 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(20): Show |
intron_variant | MODIFIER | c.628+25444A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128493829 | ||||||
| chr5:128494009
|
CAGAG | C | 97 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(94): Show | 97 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(94): Show |
intron_variant | MODIFIER | c.628+25260_628+2526 others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128494009 | ||||||
| chr5:128494072
|
C | A | 4 | a0003c0007t0005g0052a0003c0010t0002g0099a0003c0010t0024g0097others(1): Show | 4 | HG02258.hp2 HG02572.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.628+25201G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128494072 | ||||||
| chr5:128494077
|
A | T | 7 | a0001c0003t0001g0140a0003c0004t0001g0124a0003c0004t0001g0129others(4): Show | 7 | HG01192.hp2 HG01256.hp1 HG01258.hp2 others(4): Show |
intron_variant | MODIFIER | c.628+25196T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128494077 | ||||||
| chr5:128494172
|
A | G | 39 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(36): Show | 39 | HG00099.hp2 HG00741.hp1 HG01081.hp1 others(36): Show |
intron_variant | MODIFIER | c.628+25101T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128494172 | ||||||
| chr5:128494251
|
T | A | 2 | a0001c0001t0002g0077a0002c0002t0002g0078 | 2 | HG00558.hp2 NA19077.hp2 |
intron_variant | MODIFIER | c.628+25022A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128494251 | ||||||
| chr5:128494412
|
G | C | 4 | a0003c0004t0002g0063a0003c0004t0002g0064a0003c0004t0005g0062others(1): Show | 4 | HG02896.hp1 HG02965.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.628+24861C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128494412 | ||||||
| chr5:128494435
|
T | G | 7 | a0005c0017t0003g0008a0005c0017t0003g0015a0005c0019t0003g0006others(4): Show | 7 | HG02129.hp1 NA18940.hp2 NA18960.hp2 others(4): Show |
intron_variant | MODIFIER | c.628+24838A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128494435 | ||||||
| chr5:128494442
|
A | T | 8 | a0001c0021t0003g0010a0003c0004t0002g0063a0003c0004t0002g0064others(5): Show | 8 | HG01074.hp1 HG02818.hp1 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.628+24831T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128494442 | ||||||
| chr5:128494500
|
C | A | 69 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(66): Show | 69 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(66): Show |
intron_variant | MODIFIER | c.628+24773G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128494500 | ||||||
| chr5:128494562
|
G | T | 4 | a0003c0004t0002g0063a0003c0004t0002g0064a0003c0004t0005g0062others(1): Show | 4 | HG02896.hp1 HG02965.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.628+24711C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128494562 | ||||||
| chr5:128495185
|
A | T | 1 | a0003c0004t0002g0103 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.628+24088T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128495185 | ||||||
| chr5:128495215
|
A | AC | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.628+24057_628+2405 others(5): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128495215 | ||||||
| chr5:128495457
|
T | A | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.628+23816A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128495457 | ||||||
| chr5:128495561
|
A | G | 2 | a0006c0025t0009g0091a0006c0025t0018g0017 | 2 | HG02809.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.628+23712T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128495561 | ||||||
| chr5:128495572
|
G | C | 24 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(21): Show | 24 | HG00558.hp2 HG01516.hp1 HG01952.hp2 others(21): Show |
intron_variant | MODIFIER | c.628+23701C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128495572 | ||||||
| chr5:128495582
|
C | G | 19 | a0001c0003t0001g0201a0001c0003t0001g0204a0001c0050t0001g0208others(16): Show | 19 | HG00099.hp2 HG01358.hp2 HG01361.hp1 others(16): Show |
intron_variant | MODIFIER | c.628+23691G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128495582 | ||||||
| chr5:128495693
|
A | G | 2 | a0001c0008t0006g0023a0001c0028t0002g0022 | 2 | HG02145.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.628+23580T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128495693 | ||||||
| chr5:128495739
|
C | A | 5 | a0001c0008t0006g0023a0001c0028t0002g0022a0002c0023t0038g0235others(2): Show | 5 | HG02145.hp2 HG02280.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.628+23534G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128495739 | ||||||
| chr5:128495795
|
C | G | 1 | a0004c0005t0002g0069 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.628+23478G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128495795 | ||||||
| chr5:128495891
|
C | G | 6 | a0001c0001t0002g0071a0001c0001t0002g0073a0001c0001t0002g0079others(3): Show | 6 | NA18951.hp1 NA18962.hp2 NA18975.hp2 others(3): Show |
intron_variant | MODIFIER | c.628+23382G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128495891 | ||||||
| chr5:128495933
|
T | C | 41 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(38): Show | 41 | HG00099.hp2 HG00741.hp1 HG01081.hp1 others(38): Show |
intron_variant | MODIFIER | c.628+23340A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128495933 | ||||||
| chr5:128496064
|
A | G | 1 | a0003c0004t0002g0103 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.628+23209T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128496064 | ||||||
| chr5:128496243
|
A | G | 5 | a0001c0008t0006g0023a0001c0028t0002g0022a0002c0023t0038g0235others(2): Show | 5 | HG02145.hp2 HG02280.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.628+23030T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128496243 | ||||||
| chr5:128496439
|
T | A | 4 | a0001c0021t0003g0010a0003c0010t0008g0085a0003c0013t0016g0003others(1): Show | 4 | HG01074.hp1 HG02818.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.628+22834A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128496439 | ||||||
| chr5:128496575
|
G | T | 6 | a0001c0001t0002g0071a0001c0001t0002g0073a0001c0001t0002g0079others(3): Show | 6 | NA18951.hp1 NA18962.hp2 NA18975.hp2 others(3): Show |
intron_variant | MODIFIER | c.628+22698C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128496575 | ||||||
| chr5:128496854
|
A | G | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.628+22419T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128496854 | ||||||
| chr5:128497123
|
T | C | 8 | a0001c0021t0003g0010a0003c0004t0002g0063a0003c0004t0002g0064others(5): Show | 8 | HG01074.hp1 HG02818.hp1 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.628+22150A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128497123 | ||||||
| chr5:128497163
|
C | T | 97 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(94): Show | 97 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(94): Show |
intron_variant | MODIFIER | c.628+22110G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128497163 | ||||||
| chr5:128497346
|
T | C | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.628+21927A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128497346 | ||||||
| chr5:128497381
|
A | G | 2 | a0001c0008t0006g0023a0001c0028t0002g0022 | 2 | HG02145.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.628+21892T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128497381 | ||||||
| chr5:128497387
|
A | G | 97 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(94): Show | 97 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(94): Show |
intron_variant | MODIFIER | c.628+21886T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128497387 | ||||||
| chr5:128497596
|
T | C | 1 | a0002c0002t0002g0068 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.628+21677A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128497596 | ||||||
| chr5:128497602
|
C | T | 139 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(136): Show | 139 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(136): Show |
intron_variant | MODIFIER | c.628+21671G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128497602 | ||||||
| chr5:128497729
|
C | T | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.628+21544G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128497729 | ||||||
| chr5:128497967
|
G | GAAAAGC | 5 | a0001c0008t0006g0023a0001c0028t0002g0022a0002c0023t0038g0235others(2): Show | 5 | HG02145.hp2 HG02280.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.628+21300_628+2130 others(10): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128497967 | ||||||
| chr5:128498083
|
C | G | 1 | a0003c0016t0037g0234 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.628+21190G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128498083 | ||||||
| chr5:128498748
|
A | G | 97 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(94): Show | 97 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(94): Show |
intron_variant | MODIFIER | c.628+20525T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128498748 | ||||||
| chr5:128498812
|
T | C | 23 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0008t0028g0113others(20): Show | 23 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(20): Show |
intron_variant | MODIFIER | c.628+20461A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128498812 | ||||||
| chr5:128498995
|
A | T | 1 | a0001c0001t0001g0156 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.628+20278T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128498995 | ||||||
| chr5:128499382
|
C | G | 69 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(66): Show | 69 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(66): Show |
intron_variant | MODIFIER | c.628+19891G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128499382 | ||||||
| chr5:128499476
|
C | G | 28 | a0001c0003t0005g0100a0001c0008t0006g0023a0001c0008t0025g0115others(25): Show | 28 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(25): Show |
intron_variant | MODIFIER | c.628+19797G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128499476 | ||||||
| chr5:128499590
|
T | A | 1 | a0001c0008t0029g0117 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.628+19683A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128499590 | ||||||
| chr5:128499619
|
C | T | 206 | a0001c0001t0001g0162a0001c0001t0001g0172a0001c0001t0001g0175others(203): Show | 206 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(203): Show |
intron_variant | MODIFIER | c.628+19654G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128499619 | ||||||
| chr5:128499669
|
A | G | 1 | a0001c0001t0001g0156 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.628+19604T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128499669 | ||||||
| chr5:128499678
|
T | C | 28 | a0001c0003t0005g0100a0001c0008t0006g0023a0001c0008t0025g0115others(25): Show | 28 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(25): Show |
intron_variant | MODIFIER | c.628+19595A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128499678 | ||||||
| chr5:128499683
|
C | A | 1 | a0003c0013t0016g0003 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.628+19590G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128499683 | ||||||
| chr5:128499703
|
C | A | 1 | a0027c0027t0008g0020 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.628+19570G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128499703 | ||||||
| chr5:128499794
|
CT | C | 5 | a0001c0008t0006g0023a0001c0028t0002g0022a0002c0023t0038g0235others(2): Show | 5 | HG02145.hp2 HG02280.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.628+19478delA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128499794 | ||||||
| chr5:128499852
|
T | C | 13 | a0001c0001t0005g0087a0002c0002t0005g0086a0002c0059t0005g0092others(10): Show | 13 | HG00639.hp1 HG01081.hp2 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.628+19421A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128499852 | ||||||
| chr5:128499908
|
A | C | 5 | a0001c0008t0006g0023a0001c0028t0002g0022a0002c0023t0038g0235others(2): Show | 5 | HG02145.hp2 HG02280.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.628+19365T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128499908 | ||||||
| chr5:128499949
|
G | A | 69 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(66): Show | 69 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(66): Show |
intron_variant | MODIFIER | c.628+19324C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128499949 | ||||||
| chr5:128500016
|
T | C | 1 | a0001c0003t0001g0180 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.628+19257A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500016 | ||||||
| chr5:128500166
|
A | T | 23 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0008t0028g0113others(20): Show | 23 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(20): Show |
intron_variant | MODIFIER | c.628+19107T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500166 | ||||||
| chr5:128500228
|
T | TCAA | 52 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(49): Show | 52 | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.628+19042_628+1904 others(7): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500228 | ||||||
| chr5:128500228
|
T | TCAACAA | 14 | a0001c0001t0002g0077a0001c0011t0009g0065a0001c0033t0005g0037others(11): Show | 14 | HG00558.hp2 HG02559.hp2 HG02818.hp2 others(11): Show |
intron_variant | MODIFIER | c.628+19039_628+1904 others(10): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500228 | ||||||
| chr5:128500228
|
T | TCAACAAC others(2): Show |
3 | a0001c0001t0002g0082a0020c0043t0019g0018a0027c0027t0008g0020 | 3 | HG01496.hp1 HG02683.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.628+19036_628+1904 others(13): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500228 | ||||||
| chr5:128500228
|
T | TCAACAAC others(5): Show |
1 | a0003c0044t0004g0053 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.628+19033_628+1904 others(16): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500228 | ||||||
| chr5:128500228
|
TCAA | T | 24 | a0001c0001t0001g0175a0001c0001t0001g0184a0001c0001t0001g0186others(21): Show | 24 | HG00099.hp1 HG00609.hp1 HG00735.hp1 others(21): Show |
intron_variant | MODIFIER | c.628+19042_628+1904 others(7): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500228 | ||||||
| chr5:128500369
|
T | C | 1 | a0001c0001t0001g0159 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.628+18904A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500369 | ||||||
| chr5:128500430
|
C | CT | 16 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0144others(13): Show | 16 | HG00741.hp2 HG01071.hp2 HG01106.hp1 others(13): Show |
intron_variant | MODIFIER | c.628+18842dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500430 | ||||||
| chr5:128500430
|
C | CTTTTT | 5 | a0001c0008t0025g0115a0001c0009t0002g0040a0001c0014t0014g0112others(2): Show | 5 | HG03209.hp1 HG03491.hp1 HG06807.hp1 others(2): Show |
intron_variant | MODIFIER | c.628+18838_628+1884 others(9): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500430 | ||||||
| chr5:128500430
|
C | CTTTTTT | 8 | a0001c0003t0005g0100a0001c0008t0028g0113a0001c0011t0022g0061others(5): Show | 8 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(5): Show |
intron_variant | MODIFIER | c.628+18837_628+1884 others(10): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500430 | ||||||
| chr5:128500430
|
C | CTTTTTTT others(3): Show |
3 | a0001c0008t0006g0023a0001c0009t0002g0049a0001c0028t0002g0022 | 3 | HG02145.hp2 HG03516.hp1 HG03831.hp2 |
intron_variant | MODIFIER | c.628+18833_628+1884 others(14): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500430 | ||||||
| chr5:128500430
|
CT | C | 7 | a0001c0001t0013g0110a0001c0001t0013g0111a0002c0002t0001g0125others(4): Show | 7 | HG01074.hp2 HG01516.hp1 HG01952.hp2 others(4): Show |
intron_variant | MODIFIER | c.628+18842delA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500430 | ||||||
| chr5:128500430
|
CTT | C | 19 | a0001c0001t0002g0071a0001c0003t0006g0060a0001c0011t0009g0065others(16): Show | 19 | HG01081.hp2 HG02055.hp1 HG02258.hp2 others(16): Show |
intron_variant | MODIFIER | c.628+18841_628+1884 others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500430 | ||||||
| chr5:128500430
|
CTTT | C | 54 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0072others(51): Show | 54 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(51): Show |
intron_variant | MODIFIER | c.628+18840_628+1884 others(7): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500430 | ||||||
| chr5:128500430
|
CTTTT | C | 34 | a0001c0001t0002g0079a0001c0001t0003g0002a0001c0001t0003g0011others(31): Show | 34 | HG00099.hp2 HG00741.hp1 HG01081.hp1 others(31): Show |
intron_variant | MODIFIER | c.628+18839_628+1884 others(8): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500430 | ||||||
| chr5:128500430
|
CTTTTTTT others(5): Show |
C | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.628+18831_628+1884 others(16): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500430 | ||||||
| chr5:128500430
|
CTTTTTTT others(6): Show |
C | 1 | a0003c0006t0004g0046 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.628+18830_628+1884 others(17): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500430 | ||||||
| chr5:128500460
|
T | C | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.628+18813A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500460 | ||||||
| chr5:128500543
|
C | T | 2 | a0001c0003t0005g0100a0002c0015t0008g0024 | 2 | HG03139.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.628+18730G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500543 | ||||||
| chr5:128500593
|
T | C | 28 | a0001c0003t0005g0100a0001c0008t0006g0023a0001c0008t0025g0115others(25): Show | 28 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(25): Show |
intron_variant | MODIFIER | c.628+18680A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500593 | ||||||
| chr5:128500636
|
G | C | 28 | a0001c0003t0005g0100a0001c0008t0006g0023a0001c0008t0025g0115others(25): Show | 28 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(25): Show |
intron_variant | MODIFIER | c.628+18637C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500636 | ||||||
| chr5:128500665
|
C | A | 41 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(38): Show | 41 | HG00099.hp2 HG00741.hp1 HG01081.hp1 others(38): Show |
intron_variant | MODIFIER | c.628+18608G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500665 | ||||||
| chr5:128500821
|
A | C | 1 | a0003c0004t0002g0090 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.628+18452T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500821 | ||||||
| chr5:128500946
|
A | T | 69 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(66): Show | 69 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(66): Show |
intron_variant | MODIFIER | c.628+18327T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128500946 | ||||||
| chr5:128501156
|
C | T | 1 | a0002c0002t0001g0217 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.628+18117G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128501156 | ||||||
| chr5:128501185
|
G | C | 1 | a0003c0004t0002g0103 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.628+18088C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128501185 | ||||||
| chr5:128501425
|
A | T | 1 | a0001c0014t0014g0112 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.628+17848T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128501425 | ||||||
| chr5:128501534
|
A | G | 1 | a0002c0029t0027g0118 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.628+17739T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128501534 | ||||||
| chr5:128501806
|
T | A | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.628+17467A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128501806 | ||||||
| chr5:128502138
|
A | G | 4 | a0001c0001t0001g0156a0001c0001t0001g0157a0001c0001t0001g0158others(1): Show | 4 | HG01928.hp1 HG03654.hp2 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.628+17135T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128502138 | ||||||
| chr5:128502287
|
CA | C | 228 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(225): Show | 228 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
intron_variant | MODIFIER | c.628+16985delT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128502287 | ||||||
| chr5:128502291
|
A | C | 2 | a0001c0001t0001g0170a0003c0013t0007g0171 | 2 | HG00639.hp2 HG01346.hp2 |
intron_variant | MODIFIER | c.628+16982T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128502291 | ||||||
| chr5:128502297
|
A | T | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.628+16976T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128502297 | ||||||
| chr5:128502298
|
A | T | 1 | a0001c0048t0001g0120 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.628+16975T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128502298 | ||||||
| chr5:128502299
|
A | C | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.628+16974T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128502299 | ||||||
| chr5:128502391
|
C | T | 2 | a0001c0008t0006g0023a0001c0028t0002g0022 | 2 | HG02145.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.628+16882G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128502391 | ||||||
| chr5:128502503
|
C | T | 10 | a0001c0001t0001g0175a0001c0003t0001g0174a0001c0003t0001g0176others(7): Show | 10 | HG00735.hp1 HG01952.hp1 HG01978.hp1 others(7): Show |
intron_variant | MODIFIER | c.628+16770G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128502503 | ||||||
| chr5:128502541
|
G | A | 1 | a0003c0004t0033g0128 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.628+16732C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128502541 | ||||||
| chr5:128502602
|
AC | A | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.628+16670delG | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128502602 | ||||||
| chr5:128502717
|
C | T | 5 | a0001c0008t0006g0023a0001c0028t0002g0022a0002c0023t0038g0235others(2): Show | 5 | HG02145.hp2 HG02280.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.628+16556G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128502717 | ||||||
| chr5:128502752
|
G | T | 23 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0008t0028g0113others(20): Show | 23 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(20): Show |
intron_variant | MODIFIER | c.628+16521C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128502752 | ||||||
| chr5:128502866
|
C | A | 2 | a0002c0023t0038g0235a0022c0066t0021g0101 | 2 | HG02280.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.628+16407G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128502866 | ||||||
| chr5:128503083
|
TC | T | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.628+16189delG | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128503083 | ||||||
| chr5:128503265
|
T | C | 15 | a0001c0003t0006g0060a0001c0011t0009g0065a0001c0033t0005g0037others(12): Show | 15 | HG01496.hp1 HG01884.hp2 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.628+16008A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128503265 | ||||||
| chr5:128503521
|
G | A | 1 | a0003c0006t0004g0047 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.628+15752C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128503521 | ||||||
| chr5:128503616
|
G | T | 5 | a0001c0008t0006g0023a0001c0028t0002g0022a0002c0023t0038g0235others(2): Show | 5 | HG02145.hp2 HG02280.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.628+15657C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128503616 | ||||||
| chr5:128503762
|
T | A | 5 | a0003c0007t0006g0055a0003c0007t0006g0056a0003c0007t0006g0057others(2): Show | 5 | HG01069.hp1 HG01071.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.628+15511A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128503762 | ||||||
| chr5:128503813
|
A | G | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.628+15460T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128503813 | ||||||
| chr5:128503819
|
T | C | 1 | a0001c0001t0002g0082 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.628+15454A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128503819 | ||||||
| chr5:128503953
|
C | T | 69 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(66): Show | 69 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(66): Show |
intron_variant | MODIFIER | c.628+15320G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128503953 | ||||||
| chr5:128504170
|
T | C | 1 | a0002c0015t0008g0024 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.628+15103A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128504170 | ||||||
| chr5:128504207
|
C | G | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.628+15066G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128504207 | ||||||
| chr5:128504459
|
C | T | 1 | a0003c0004t0003g0012 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.628+14814G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128504459 | ||||||
| chr5:128504520
|
T | C | 1 | a0004c0005t0001g0214 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.628+14753A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128504520 | ||||||
| chr5:128504788
|
G | T | 1 | a0001c0011t0010g0104 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.628+14485C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128504788 | ||||||
| chr5:128504809
|
G | T | 13 | a0001c0001t0005g0087a0002c0002t0005g0086a0002c0059t0005g0092others(10): Show | 13 | HG00639.hp1 HG01081.hp2 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.628+14464C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128504809 | ||||||
| chr5:128504931
|
A | G | 206 | a0001c0001t0001g0162a0001c0001t0001g0172a0001c0001t0001g0175others(203): Show | 206 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(203): Show |
intron_variant | MODIFIER | c.628+14342T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128504931 | ||||||
| chr5:128505102
|
G | A | 3 | a0002c0002t0005g0086a0003c0004t0006g0095a0008c0063t0012g0096 | 3 | HG00639.hp1 HG02922.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.628+14171C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128505102 | ||||||
| chr5:128505134
|
G | A | 1 | a0002c0002t0001g0225 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.628+14139C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128505134 | ||||||
| chr5:128505298
|
G | C | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.628+13975C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128505298 | ||||||
| chr5:128505377
|
G | C | 4 | a0001c0001t0002g0072a0001c0001t0013g0110a0001c0001t0013g0111others(1): Show | 4 | HG01516.hp1 HG01952.hp2 HG01975.hp2 others(1): Show |
intron_variant | MODIFIER | c.628+13896C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128505377 | ||||||
| chr5:128505440
|
C | G | 2 | a0001c0001t0003g0013a0001c0001t0003g0014 | 2 | HG03834.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.628+13833G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128505440 | ||||||
| chr5:128505588
|
A | G | 69 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(66): Show | 69 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(66): Show |
intron_variant | MODIFIER | c.628+13685T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128505588 | ||||||
| chr5:128505700
|
T | C | 15 | a0001c0003t0006g0060a0001c0011t0009g0065a0001c0033t0005g0037others(12): Show | 15 | HG01496.hp1 HG01884.hp2 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.628+13573A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128505700 | ||||||
| chr5:128505726
|
ACT | A | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.628+13545_628+1354 others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128505726 | ||||||
| chr5:128505884
|
G | C | 1 | a0003c0064t0004g0080 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.628+13389C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128505884 | ||||||
| chr5:128505918
|
A | T | 1 | a0002c0029t0027g0118 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.628+13355T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128505918 | ||||||
| chr5:128505985
|
C | A | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.628+13288G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128505985 | ||||||
| chr5:128506413
|
A | G | 13 | a0001c0001t0005g0087a0002c0002t0005g0086a0002c0059t0005g0092others(10): Show | 13 | HG00639.hp1 HG01081.hp2 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.628+12860T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128506413 | ||||||
| chr5:128506596
|
A | C | 38 | a0001c0001t0001g0162a0001c0001t0001g0227a0001c0001t0001g0229others(35): Show | 38 | HG00558.hp1 HG01074.hp2 HG01975.hp1 others(35): Show |
intron_variant | MODIFIER | c.628+12677T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128506596 | ||||||
| chr5:128506726
|
C | T | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.628+12547G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128506726 | ||||||
| chr5:128506766
|
T | C | 1 | a0001c0009t0006g0030 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.628+12507A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128506766 | ||||||
| chr5:128506777
|
C | A | 11 | a0001c0054t0001g0194a0004c0005t0001g0191a0004c0005t0001g0193others(8): Show | 11 | HG02155.hp2 NA18949.hp1 NA18951.hp2 others(8): Show |
intron_variant | MODIFIER | c.628+12496G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128506777 | ||||||
| chr5:128507086
|
A | G | 1 | a0002c0039t0005g0031 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.628+12187T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128507086 | ||||||
| chr5:128507330
|
C | T | 1 | a0002c0002t0001g0212 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.628+11943G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128507330 | ||||||
| chr5:128507515
|
C | T | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.628+11758G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128507515 | ||||||
| chr5:128507668
|
T | C | 1 | a0003c0006t0004g0048 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.628+11605A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128507668 | ||||||
| chr5:128507830
|
C | T | 15 | a0001c0003t0006g0060a0001c0011t0009g0065a0001c0033t0005g0037others(12): Show | 15 | HG01496.hp1 HG01884.hp2 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.628+11443G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128507830 | ||||||
| chr5:128507845
|
C | T | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.628+11428G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128507845 | ||||||
| chr5:128507884
|
T | C | 1 | a0003c0004t0002g0103 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.628+11389A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128507884 | ||||||
| chr5:128508013
|
T | C | 1 | a0004c0005t0001g0214 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.628+11260A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128508013 | ||||||
| chr5:128508674
|
C | G | 5 | a0003c0007t0006g0055a0003c0007t0006g0056a0003c0007t0006g0057others(2): Show | 5 | HG01069.hp1 HG01071.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.628+10599G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128508674 | ||||||
| chr5:128508829
|
T | C | 28 | a0001c0003t0005g0100a0001c0008t0006g0023a0001c0008t0025g0115others(25): Show | 28 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(25): Show |
intron_variant | MODIFIER | c.628+10444A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128508829 | ||||||
| chr5:128508899
|
G | A | 1 | a0001c0057t0001g0202 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.628+10374C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128508899 | ||||||
| chr5:128509090
|
T | C | 2 | a0003c0013t0007g0203a0004c0005t0001g0209 | 2 | HG01358.hp2 HG01361.hp1 |
intron_variant | MODIFIER | c.628+10183A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128509090 | ||||||
| chr5:128509295
|
T | A | 1 | a0002c0002t0001g0165 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.628+9978A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128509295 | ||||||
| chr5:128509337
|
C | A | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.628+9936G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128509337 | ||||||
| chr5:128509585
|
A | T | 23 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0008t0028g0113others(20): Show | 23 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(20): Show |
intron_variant | MODIFIER | c.628+9688T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128509585 | ||||||
| chr5:128509654
|
A | AT | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.628+9618dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128509654 | ||||||
| chr5:128509908
|
CA | C | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.628+9364delT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128509908 | ||||||
| chr5:128510098
|
A | T | 1 | a0003c0004t0005g0062 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.628+9175T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128510098 | ||||||
| chr5:128510129
|
C | T | 1 | a0001c0003t0001g0201 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.628+9144G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128510129 | ||||||
| chr5:128510352
|
A | G | 138 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(135): Show | 138 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(135): Show |
intron_variant | MODIFIER | c.628+8921T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128510352 | ||||||
| chr5:128510389
|
C | T | 2 | a0002c0002t0005g0102a0002c0023t0007g0121 | 2 | HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.628+8884G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128510389 | ||||||
| chr5:128510525
|
T | C | 1 | a0001c0003t0001g0204 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.628+8748A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128510525 | ||||||
| chr5:128510787
|
C | G | 1 | a0023c0051t0003g0005 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.628+8486G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128510787 | ||||||
| chr5:128510853
|
G | A | 23 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0008t0028g0113others(20): Show | 23 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(20): Show |
intron_variant | MODIFIER | c.628+8420C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128510853 | ||||||
| chr5:128511185
|
G | A | 5 | a0001c0008t0006g0023a0001c0028t0002g0022a0002c0023t0038g0235others(2): Show | 5 | HG02145.hp2 HG02280.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.628+8088C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128511185 | ||||||
| chr5:128511228
|
G | A | 1 | a0003c0004t0001g0129 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.628+8045C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128511228 | ||||||
| chr5:128511541
|
G | A | 1 | a0002c0023t0038g0235 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.628+7732C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128511541 | ||||||
| chr5:128511653
|
T | C | 1 | a0026c0070t0002g0105 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.628+7620A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128511653 | ||||||
| chr5:128511865
|
T | C | 1 | a0027c0027t0008g0020 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.628+7408A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128511865 | ||||||
| chr5:128511955
|
T | C | 1 | a0005c0019t0003g0009 | 1 | NA18940.hp2 | intron_variant | MODIFIER | c.628+7318A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128511955 | ||||||
| chr5:128512018
|
G | A | 1 | a0002c0023t0007g0121 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.628+7255C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128512018 | ||||||
| chr5:128512037
|
G | T | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.628+7236C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128512037 | ||||||
| chr5:128512077
|
T | C | 8 | a0001c0021t0003g0010a0003c0004t0002g0063a0003c0004t0002g0064others(5): Show | 8 | HG01074.hp1 HG02818.hp1 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.628+7196A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128512077 | ||||||
| chr5:128512079
|
T | C | 2 | a0003c0044t0004g0053a0020c0043t0019g0018 | 2 | HG01496.hp1 HG02055.hp2 |
intron_variant | MODIFIER | c.628+7194A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128512079 | ||||||
| chr5:128512099
|
C | A | 2 | a0002c0032t0009g0039a0002c0034t0004g0038 | 2 | HG02109.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.628+7174G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128512099 | ||||||
| chr5:128512128
|
G | C | 1 | a0002c0002t0001g0168 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.628+7145C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128512128 | ||||||
| chr5:128512130
|
A | T | 1 | a0001c0011t0009g0065 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.628+7143T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128512130 | ||||||
| chr5:128512195
|
C | T | 61 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(58): Show | 61 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.628+7078G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128512195 | ||||||
| chr5:128512283
|
G | A | 3 | a0003c0004t0002g0063a0003c0004t0002g0064a0003c0004t0005g0062 | 3 | HG02896.hp1 HG03579.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.628+6990C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128512283 | ||||||
| chr5:128512435
|
C | A | 2 | a0002c0002t0005g0102a0002c0023t0007g0121 | 2 | HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.628+6838G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128512435 | ||||||
| chr5:128512505
|
C | T | 1 | a0002c0015t0010g0025 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.628+6768G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128512505 | ||||||
| chr5:128512512
|
C | CA | 58 | a0001c0001t0001g0162a0001c0001t0001g0164a0001c0001t0001g0227others(55): Show | 58 | HG00099.hp2 HG00140.hp1 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.628+6760dupT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128512512 | ||||||
| chr5:128512512
|
C | CAA | 14 | a0001c0001t0003g0002a0001c0008t0006g0023a0001c0011t0009g0065others(11): Show | 14 | HG01074.hp1 HG01516.hp2 HG02257.hp1 others(11): Show |
intron_variant | MODIFIER | c.628+6759_628+6760d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128512512 | ||||||
| chr5:128512512
|
C | CAAA | 14 | a0001c0001t0003g0011a0001c0001t0003g0013a0001c0001t0003g0014others(11): Show | 14 | HG00741.hp1 HG01081.hp1 HG02129.hp1 others(11): Show |
intron_variant | MODIFIER | c.628+6758_628+6760d others(5): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128512512 | ||||||
| chr5:128512512
|
CA | C | 10 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0188others(7): Show | 10 | HG00099.hp1 HG02818.hp1 HG02896.hp1 others(7): Show |
intron_variant | MODIFIER | c.628+6760delT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128512512 | ||||||
| chr5:128512611
|
C | A | 6 | a0002c0039t0005g0031a0003c0007t0006g0055a0003c0007t0006g0056others(3): Show | 6 | HG01069.hp1 HG01071.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.628+6662G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128512611 | ||||||
| chr5:128513400
|
C | A | 2 | a0002c0060t0007g0228a0004c0005t0001g0214 | 2 | HG02129.hp2 NA19056.hp1 |
intron_variant | MODIFIER | c.628+5873G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128513400 | ||||||
| chr5:128513630
|
A | G | 6 | a0003c0004t0002g0063a0003c0004t0002g0064a0003c0004t0005g0062others(3): Show | 6 | HG02818.hp1 HG02896.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.628+5643T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128513630 | ||||||
| chr5:128513668
|
C | G | 1 | a0002c0023t0038g0235 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.628+5605G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128513668 | ||||||
| chr5:128513718
|
C | T | 1 | a0002c0002t0034g0167 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.628+5555G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128513718 | ||||||
| chr5:128513896
|
A | G | 2 | a0002c0037t0023g0034a0003c0016t0037g0234 | 2 | HG02258.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.628+5377T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128513896 | ||||||
| chr5:128514023
|
A | AAT | 84 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(81): Show | 84 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(81): Show |
intron_variant | MODIFIER | c.628+5248_628+5249d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128514023 | ||||||
| chr5:128514024
|
A | ATG | 3 | a0001c0001t0001g0229a0002c0002t0001g0130a0007c0022t0001g0131 | 3 | HG01975.hp1 HG03491.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.628+5247_628+5248d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128514024 | ||||||
| chr5:128514026
|
G | A | 48 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(45): Show | 48 | HG00099.hp2 HG00741.hp1 HG01074.hp1 others(45): Show |
intron_variant | MODIFIER | c.628+5247C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128514026 | ||||||
| chr5:128514126
|
C | T | 13 | a0001c0003t0006g0060a0001c0011t0009g0065a0001c0033t0005g0037others(10): Show | 13 | HG01496.hp1 HG01884.hp2 HG02055.hp2 others(10): Show |
intron_variant | MODIFIER | c.628+5147G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128514126 | ||||||
| chr5:128514216
|
T | C | 1 | a0001c0001t0001g0188 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.628+5057A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128514216 | ||||||
| chr5:128514223
|
A | G | 61 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(58): Show | 61 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.628+5050T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128514223 | ||||||
| chr5:128514274
|
G | A | 1 | a0001c0009t0006g0030 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.628+4999C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128514274 | ||||||
| chr5:128514406
|
T | G | 6 | a0002c0039t0005g0031a0003c0007t0006g0055a0003c0007t0006g0056others(3): Show | 6 | HG01069.hp1 HG01071.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.628+4867A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128514406 | ||||||
| chr5:128514424
|
G | C | 5 | a0001c0008t0006g0023a0001c0028t0002g0022a0002c0023t0038g0235others(2): Show | 5 | HG02145.hp2 HG02280.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.628+4849C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128514424 | ||||||
| chr5:128514436
|
G | T | 61 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(58): Show | 61 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.628+4837C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128514436 | ||||||
| chr5:128514682
|
C | T | 235 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0142others(232): Show | 235 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(232): Show |
intron_variant | MODIFIER | c.628+4591G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128514682 | ||||||
| chr5:128514746
|
C | T | 1 | a0003c0013t0016g0003 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.628+4527G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128514746 | ||||||
| chr5:128514966
|
T | C | 1 | a0003c0006t0004g0050 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.628+4307A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128514966 | ||||||
| chr5:128515162
|
A | G | 61 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(58): Show | 61 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.628+4111T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128515162 | ||||||
| chr5:128515273
|
G | T | 1 | a0001c0001t0002g0072 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.628+4000C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128515273 | ||||||
| chr5:128515286
|
A | C | 110 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(107): Show | 110 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(107): Show |
intron_variant | MODIFIER | c.628+3987T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128515286 | ||||||
| chr5:128515286
|
A | T | 23 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0008t0028g0113others(20): Show | 23 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(20): Show |
intron_variant | MODIFIER | c.628+3987T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128515286 | ||||||
| chr5:128515439
|
T | C | 5 | a0004c0005t0001g0195a0004c0005t0001g0196a0004c0005t0001g0197others(2): Show | 5 | NA18956.hp2 NA18967.hp2 NA18977.hp2 others(2): Show |
intron_variant | MODIFIER | c.628+3834A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128515439 | ||||||
| chr5:128515483
|
G | A | 1 | a0001c0031t0026g0116 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.628+3790C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128515483 | ||||||
| chr5:128515501
|
C | G | 5 | a0001c0008t0006g0023a0001c0028t0002g0022a0002c0023t0038g0235others(2): Show | 5 | HG02145.hp2 HG02280.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.628+3772G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128515501 | ||||||
| chr5:128515570
|
C | T | 61 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(58): Show | 61 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.628+3703G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128515570 | ||||||
| chr5:128515690
|
A | G | 10 | a0001c0009t0002g0049a0003c0006t0004g0042a0003c0006t0004g0044others(7): Show | 10 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(7): Show |
intron_variant | MODIFIER | c.628+3583T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128515690 | ||||||
| chr5:128515783
|
TC | T | 61 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(58): Show | 61 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.628+3489delG | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128515783 | ||||||
| chr5:128516014
|
C | A | 1 | a0001c0048t0001g0120 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.628+3259G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128516014 | ||||||
| chr5:128516054
|
C | G | 1 | a0003c0004t0002g0103 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.628+3219G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128516054 | ||||||
| chr5:128516063
|
C | T | 61 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(58): Show | 61 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.628+3210G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128516063 | ||||||
| chr5:128516122
|
C | T | 1 | a0001c0003t0001g0173 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.628+3151G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128516122 | ||||||
| chr5:128516298
|
C | G | 61 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(58): Show | 61 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.628+2975G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128516298 | ||||||
| chr5:128516356
|
C | G | 5 | a0001c0008t0006g0023a0001c0028t0002g0022a0002c0023t0038g0235others(2): Show | 5 | HG02145.hp2 HG02280.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.628+2917G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128516356 | ||||||
| chr5:128516374
|
C | CT | 52 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(49): Show | 52 | HG00099.hp2 HG00741.hp1 HG01069.hp1 others(49): Show |
intron_variant | MODIFIER | c.628+2898dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128516374 | ||||||
| chr5:128516374
|
C | CTT | 23 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0008t0028g0113others(20): Show | 23 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(20): Show |
intron_variant | MODIFIER | c.628+2897_628+2898d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128516374 | ||||||
| chr5:128516525
|
G | A | 61 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(58): Show | 61 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.628+2748C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128516525 | ||||||
| chr5:128516675
|
T | A | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.628+2598A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128516675 | ||||||
| chr5:128516718
|
A | T | 2 | a0002c0002t0005g0102a0002c0023t0007g0121 | 2 | HG03579.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.628+2555T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128516718 | ||||||
| chr5:128516726
|
T | G | 1 | a0001c0031t0026g0116 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.628+2547A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128516726 | ||||||
| chr5:128516733
|
A | T | 61 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(58): Show | 61 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.628+2540T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128516733 | ||||||
| chr5:128516917
|
T | C | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.628+2356A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128516917 | ||||||
| chr5:128516919
|
G | C | 43 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(40): Show | 43 | HG00099.hp2 HG00741.hp1 HG01074.hp1 others(40): Show |
intron_variant | MODIFIER | c.628+2354C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128516919 | ||||||
| chr5:128517070
|
C | T | 61 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(58): Show | 61 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.628+2203G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128517070 | ||||||
| chr5:128517080
|
T | C | 61 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(58): Show | 61 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.628+2193A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128517080 | ||||||
| chr5:128517192
|
G | C | 1 | a0001c0001t0001g0172 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.628+2081C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128517192 | ||||||
| chr5:128517280
|
G | A | 5 | a0003c0007t0006g0055a0003c0007t0006g0056a0003c0007t0006g0057others(2): Show | 5 | HG01069.hp1 HG01071.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.628+1993C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128517280 | ||||||
| chr5:128517282
|
G | A | 2 | a0001c0008t0006g0023a0001c0028t0002g0022 | 2 | HG02145.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.628+1991C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128517282 | ||||||
| chr5:128517326
|
A | C | 5 | a0003c0007t0006g0055a0003c0007t0006g0056a0003c0007t0006g0057others(2): Show | 5 | HG01069.hp1 HG01071.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.628+1947T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128517326 | ||||||
| chr5:128517390
|
A | G | 1 | a0007c0022t0001g0216 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.628+1883T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128517390 | ||||||
| chr5:128517449
|
G | A | 61 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(58): Show | 61 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(58): Show |
intron_variant | MODIFIER | c.628+1824C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128517449 | ||||||
| chr5:128517567
|
T | C | 23 | a0001c0003t0005g0100a0001c0008t0025g0115a0001c0008t0028g0113others(20): Show | 23 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(20): Show |
intron_variant | MODIFIER | c.628+1706A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128517567 | ||||||
| chr5:128517631
|
G | T | 2 | a0003c0004t0001g0124a0003c0004t0001g0129 | 2 | HG01361.hp2 HG03239.hp1 |
intron_variant | MODIFIER | c.628+1642C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128517631 | ||||||
| chr5:128517762
|
T | C | 2 | a0001c0008t0006g0023a0001c0028t0002g0022 | 2 | HG02145.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.628+1511A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128517762 | ||||||
| chr5:128517970
|
C | T | 1 | a0001c0001t0002g0071 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.628+1303G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128517970 | ||||||
| chr5:128517980
|
GTTAT | G | 5 | a0001c0003t0001g0201a0001c0003t0001g0204a0001c0057t0001g0202others(2): Show | 5 | HG01358.hp2 HG01361.hp1 HG02145.hp1 others(2): Show |
intron_variant | MODIFIER | c.628+1289_628+1292d others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128517980 | ||||||
| chr5:128517999
|
G | A | 103 | a0001c0001t0001g0172a0001c0001t0002g0071a0001c0001t0002g0072others(100): Show | 103 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(100): Show |
intron_variant | MODIFIER | c.628+1274C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128517999 | ||||||
| chr5:128518156
|
G | C | 15 | a0001c0003t0005g0100a0001c0009t0002g0040a0001c0009t0002g0049others(12): Show | 15 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(12): Show |
intron_variant | MODIFIER | c.628+1117C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128518156 | ||||||
| chr5:128518283
|
AT | A | 58 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(55): Show | 58 | HG00099.hp2 HG00741.hp1 HG01074.hp1 others(55): Show |
intron_variant | MODIFIER | c.628+989delA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128518283 | ||||||
| chr5:128518412
|
T | C | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.628+861A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128518412 | ||||||
| chr5:128518452
|
G | A | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.628+821C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128518452 | ||||||
| chr5:128518882
|
C | T | 1 | a0003c0016t0037g0234 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.628+391G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128518882 | ||||||
| chr5:128519049
|
C | T | 1 | a0001c0008t0029g0117 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.628+224G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128519049 | ||||||
| chr5:128519065
|
C | T | 101 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(98): Show | 101 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(98): Show |
intron_variant | MODIFIER | c.628+208G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128519065 | ||||||
| chr5:128519155
|
T | A | 58 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(55): Show | 58 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(55): Show |
intron_variant | MODIFIER | c.628+118A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | 128519155 | ||||||
| chr5:128519374
|
T | C | 1 | a0001c0003t0001g0230 | 1 | NA18962.hp1 | splice_region_variant&intron_variant | LOW | c.533-6A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128519374 | ||||||
| chr5:128519398
|
A | C | 2 | a0001c0036t0004g0032a0003c0007t0002g0033 | 2 | HG01884.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.533-30T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128519398 | ||||||
| chr5:128519399
|
T | C | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.533-31A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128519399 | ||||||
| chr5:128519459
|
GTTAAA | G | 101 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(98): Show | 101 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(98): Show |
intron_variant | MODIFIER | c.533-96_533-92delTT others(3): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128519459 | ||||||
| chr5:128519460
|
T | C | 5 | a0001c0008t0006g0023a0001c0028t0002g0022a0002c0023t0038g0235others(2): Show | 5 | HG02145.hp2 HG02280.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.533-92A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128519460 | ||||||
| chr5:128519627
|
T | C | 101 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(98): Show | 101 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(98): Show |
intron_variant | MODIFIER | c.533-259A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128519627 | ||||||
| chr5:128519652
|
G | A | 2 | a0001c0008t0006g0023a0001c0028t0002g0022 | 2 | HG02145.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.533-284C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128519652 | ||||||
| chr5:128519699
|
C | T | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.533-331G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128519699 | ||||||
| chr5:128519778
|
G | A | 2 | a0002c0023t0038g0235a0022c0066t0021g0101 | 2 | HG02280.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.533-410C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128519778 | ||||||
| chr5:128519783
|
C | T | 3 | a0002c0002t0005g0086a0003c0004t0006g0095a0008c0063t0012g0096 | 3 | HG00639.hp1 HG02922.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.533-415G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128519783 | ||||||
| chr5:128519853
|
G | A | 1 | a0001c0001t0001g0127 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.533-485C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128519853 | ||||||
| chr5:128519900
|
G | A | 1 | a0003c0004t0002g0103 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.533-532C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128519900 | ||||||
| chr5:128520034
|
T | C | 17 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(14): Show | 17 | HG00741.hp1 HG01074.hp1 HG01081.hp1 others(14): Show |
intron_variant | MODIFIER | c.533-666A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128520034 | ||||||
| chr5:128520039
|
A | T | 2 | a0002c0032t0009g0039a0002c0034t0004g0038 | 2 | HG02109.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.533-671T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128520039 | ||||||
| chr5:128520103
|
C | T | 1 | a0001c0009t0006g0030 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.533-735G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128520103 | ||||||
| chr5:128520109
|
G | C | 8 | a0001c0008t0025g0115a0001c0008t0028g0113a0001c0011t0010g0104others(5): Show | 8 | HG02257.hp2 HG02572.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.533-741C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128520109 | ||||||
| chr5:128520147
|
G | A | 15 | a0001c0003t0005g0100a0001c0009t0002g0040a0001c0009t0002g0049others(12): Show | 15 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(12): Show |
intron_variant | MODIFIER | c.533-779C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128520147 | ||||||
| chr5:128520217
|
C | A | 2 | a0002c0041t0011g0029a0018c0030t0008g0021 | 2 | HG02647.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.533-849G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128520217 | ||||||
| chr5:128520284
|
A | G | 1 | a0003c0004t0033g0128 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.533-916T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128520284 | ||||||
| chr5:128520368
|
T | C | 1 | a0002c0002t0034g0167 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.533-1000A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128520368 | ||||||
| chr5:128520603
|
G | A | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.533-1235C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128520603 | ||||||
| chr5:128520679
|
A | T | 3 | a0002c0055t0008g0093a0002c0059t0005g0092a0003c0010t0005g0094 | 3 | HG01081.hp2 HG02280.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.533-1311T>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128520679 | ||||||
| chr5:128520781
|
G | A | 16 | a0001c0003t0005g0100a0001c0009t0002g0040a0001c0009t0002g0049others(13): Show | 16 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(13): Show |
intron_variant | MODIFIER | c.533-1413C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128520781 | ||||||
| chr5:128520801
|
C | A | 42 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(39): Show | 42 | HG00099.hp2 HG00741.hp1 HG01074.hp1 others(39): Show |
intron_variant | MODIFIER | c.533-1433G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128520801 | ||||||
| chr5:128520954
|
T | C | 1 | a0001c0001t0001g0229 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.533-1586A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128520954 | ||||||
| chr5:128521178
|
A | G | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.533-1810T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128521178 | ||||||
| chr5:128521261
|
C | A | 44 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(41): Show | 44 | HG00099.hp2 HG00741.hp1 HG01074.hp1 others(41): Show |
intron_variant | MODIFIER | c.533-1893G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128521261 | ||||||
| chr5:128521471
|
T | A | 1 | a0001c0001t0003g0011 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.533-2103A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128521471 | ||||||
| chr5:128521545
|
G | C | 1 | a0001c0008t0029g0117 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.533-2177C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128521545 | ||||||
| chr5:128521580
|
C | T | 1 | a0002c0059t0005g0092 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.533-2212G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128521580 | ||||||
| chr5:128521665
|
A | AT | 3 | a0001c0001t0001g0126a0001c0001t0001g0127a0002c0002t0001g0215 | 3 | HG03927.hp1 NA18986.hp1 NA18986.hp2 |
intron_variant | MODIFIER | c.533-2298dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128521665 | ||||||
| chr5:128521725
|
C | T | 1 | a0004c0005t0001g0205 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.533-2357G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128521725 | ||||||
| chr5:128521759
|
G | A | 1 | a0001c0001t0002g0082 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.533-2391C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128521759 | ||||||
| chr5:128521800
|
A | G | 140 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(137): Show | 140 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(137): Show |
intron_variant | MODIFIER | c.533-2432T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128521800 | ||||||
| chr5:128521832
|
A | G | 1 | a0004c0005t0001g0214 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.533-2464T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128521832 | ||||||
| chr5:128522025
|
A | G | 1 | a0001c0001t0003g0002 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.533-2657T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128522025 | ||||||
| chr5:128522075
|
G | A | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.533-2707C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128522075 | ||||||
| chr5:128522080
|
C | T | 5 | a0002c0023t0038g0235a0002c0032t0009g0039a0002c0034t0004g0038others(2): Show | 5 | HG02109.hp2 HG02280.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.533-2712G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128522080 | ||||||
| chr5:128522137
|
T | C | 1 | a0026c0070t0002g0105 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.533-2769A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128522137 | ||||||
| chr5:128522248
|
C | G | 1 | a0003c0016t0037g0234 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.533-2880G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128522248 | ||||||
| chr5:128522302
|
C | T | 1 | a0018c0030t0008g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.533-2934G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128522302 | ||||||
| chr5:128522316
|
G | T | 17 | a0001c0001t0005g0087a0001c0045t0006g0026a0002c0002t0005g0086others(14): Show | 17 | HG00639.hp1 HG01081.hp2 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.533-2948C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128522316 | ||||||
| chr5:128522537
|
T | G | 1 | a0004c0005t0001g0205 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.533-3169A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128522537 | ||||||
| chr5:128522640
|
G | A | 1 | a0013c0047t0002g0059 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.533-3272C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128522640 | ||||||
| chr5:128522652
|
G | A | 5 | a0001c0001t0001g0184a0001c0001t0001g0186a0001c0001t0001g0188others(2): Show | 5 | HG00099.hp1 HG01106.hp2 HG01192.hp2 others(2): Show |
intron_variant | MODIFIER | c.533-3284C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128522652 | ||||||
| chr5:128522784
|
T | G | 10 | a0001c0011t0009g0065a0001c0033t0005g0037a0001c0035t0009g0036others(7): Show | 10 | HG01884.hp2 HG02258.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.533-3416A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128522784 | ||||||
| chr5:128522989
|
T | C | 4 | a0001c0003t0005g0100a0001c0009t0006g0028a0001c0009t0006g0030others(1): Show | 4 | HG02717.hp2 HG03041.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.533-3621A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128522989 | ||||||
| chr5:128523230
|
T | C | 63 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(60): Show | 63 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(60): Show |
intron_variant | MODIFIER | c.533-3862A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128523230 | ||||||
| chr5:128523255
|
G | A | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.533-3887C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128523255 | ||||||
| chr5:128523361
|
C | A | 4 | a0001c0008t0006g0023a0001c0028t0002g0022a0002c0032t0009g0039others(1): Show | 4 | HG02109.hp2 HG02145.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.533-3993G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128523361 | ||||||
| chr5:128523399
|
C | G | 4 | a0001c0008t0006g0023a0001c0028t0002g0022a0002c0032t0009g0039others(1): Show | 4 | HG02109.hp2 HG02145.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.533-4031G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128523399 | ||||||
| chr5:128523693
|
T | C | 2 | a0002c0032t0009g0039a0002c0034t0004g0038 | 2 | HG02109.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.532+4179A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128523693 | ||||||
| chr5:128523715
|
T | C | 1 | a0002c0041t0011g0029 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.532+4157A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128523715 | ||||||
| chr5:128523779
|
A | AT | 17 | a0001c0001t0003g0013a0001c0003t0005g0100a0001c0009t0002g0040others(14): Show | 17 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(14): Show |
intron_variant | MODIFIER | c.532+4092dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128523779 | ||||||
| chr5:128523798
|
G | A | 5 | a0001c0003t0005g0100a0001c0009t0006g0028a0001c0009t0006g0030others(2): Show | 5 | HG02647.hp1 HG02717.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.532+4074C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128523798 | ||||||
| chr5:128523881
|
G | T | 110 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(107): Show | 110 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(107): Show |
intron_variant | MODIFIER | c.532+3991C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128523881 | ||||||
| chr5:128524020
|
G | C | 17 | a0001c0003t0005g0100a0001c0009t0002g0040a0001c0009t0002g0049others(14): Show | 17 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(14): Show |
intron_variant | MODIFIER | c.532+3852C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128524020 | ||||||
| chr5:128524056
|
G | T | 1 | a0003c0004t0002g0090 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.532+3816C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128524056 | ||||||
| chr5:128524109
|
C | A | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.532+3763G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128524109 | ||||||
| chr5:128524309
|
C | CT | 4 | a0003c0044t0004g0053a0018c0030t0008g0021a0020c0043t0019g0018others(1): Show | 4 | HG01496.hp1 HG02055.hp2 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.532+3562dupA | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128524309 | ||||||
| chr5:128524436
|
T | C | 1 | a0003c0004t0002g0103 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.532+3436A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128524436 | ||||||
| chr5:128524530
|
T | C | 1 | a0016c0056t0001g0189 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.532+3342A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128524530 | ||||||
| chr5:128524595
|
C | T | 1 | a0026c0070t0002g0105 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.532+3277G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128524595 | ||||||
| chr5:128524728
|
A | G | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.532+3144T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128524728 | ||||||
| chr5:128524837
|
G | A | 44 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(41): Show | 44 | HG00099.hp2 HG00741.hp1 HG01074.hp1 others(41): Show |
intron_variant | MODIFIER | c.532+3035C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128524837 | ||||||
| chr5:128524886
|
T | C | 2 | a0002c0002t0001g0168a0017c0061t0031g0169 | 2 | NA18940.hp1 NA19065.hp1 |
intron_variant | MODIFIER | c.532+2986A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128524886 | ||||||
| chr5:128524990
|
G | A | 1 | a0001c0001t0001g0170 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.532+2882C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128524990 | ||||||
| chr5:128525056
|
C | T | 118 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(115): Show | 118 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(115): Show |
intron_variant | MODIFIER | c.532+2816G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128525056 | ||||||
| chr5:128525091
|
G | A | 44 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(41): Show | 44 | HG00099.hp2 HG00741.hp1 HG01074.hp1 others(41): Show |
intron_variant | MODIFIER | c.532+2781C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128525091 | ||||||
| chr5:128525194
|
C | T | 49 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(46): Show | 49 | HG00558.hp2 HG01069.hp1 HG01071.hp1 others(46): Show |
intron_variant | MODIFIER | c.532+2678G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128525194 | ||||||
| chr5:128525381
|
C | T | 43 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(40): Show | 43 | HG00099.hp2 HG00741.hp1 HG01074.hp1 others(40): Show |
intron_variant | MODIFIER | c.532+2491G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128525381 | ||||||
| chr5:128525382
|
G | A | 5 | a0001c0008t0025g0115a0001c0008t0028g0113a0001c0014t0014g0112others(2): Show | 5 | HG02630.hp1 HG02647.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.532+2490C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128525382 | ||||||
| chr5:128525877
|
A | G | 48 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(45): Show | 48 | HG00558.hp2 HG01069.hp1 HG01071.hp1 others(45): Show |
intron_variant | MODIFIER | c.532+1995T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128525877 | ||||||
| chr5:128525919
|
C | T | 140 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(137): Show | 140 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(137): Show |
intron_variant | MODIFIER | c.532+1953G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128525919 | ||||||
| chr5:128525997
|
T | C | 44 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(41): Show | 44 | HG00099.hp2 HG00741.hp1 HG01074.hp1 others(41): Show |
intron_variant | MODIFIER | c.532+1875A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128525997 | ||||||
| chr5:128525999
|
T | C | 20 | a0001c0001t0001g0175a0001c0001t0001g0184a0001c0001t0001g0186others(17): Show | 20 | HG00099.hp1 HG00609.hp1 HG00735.hp1 others(17): Show |
intron_variant | MODIFIER | c.532+1873A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128525999 | ||||||
| chr5:128526015
|
C | T | 4 | a0001c0008t0006g0023a0001c0028t0002g0022a0003c0010t0008g0085others(1): Show | 4 | HG02145.hp2 HG02818.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.532+1857G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128526015 | ||||||
| chr5:128526146
|
C | T | 3 | a0001c0001t0005g0087a0003c0004t0002g0088a0003c0004t0002g0089 | 3 | HG01884.hp1 HG02055.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.532+1726G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128526146 | ||||||
| chr5:128526234
|
A | G | 2 | a0001c0001t0001g0172a0002c0002t0002g0067 | 2 | HG01978.hp2 NA19011.hp2 |
intron_variant | MODIFIER | c.532+1638T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128526234 | ||||||
| chr5:128526715
|
C | T | 1 | a0002c0002t0005g0086 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.532+1157G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128526715 | ||||||
| chr5:128526748
|
G | C | 1 | a0003c0013t0007g0171 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.532+1124C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128526748 | ||||||
| chr5:128526756
|
G | T | 1 | a0003c0006t0004g0042 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.532+1116C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128526756 | ||||||
| chr5:128526902
|
A | C | 121 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(118): Show | 121 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(118): Show |
intron_variant | MODIFIER | c.532+970T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128526902 | ||||||
| chr5:128527405
|
A | G | 140 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(137): Show | 140 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(137): Show |
intron_variant | MODIFIER | c.532+467T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128527405 | ||||||
| chr5:128527469
|
T | C | 2 | a0001c0008t0006g0023a0001c0028t0002g0022 | 2 | HG02145.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.532+403A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 4/64 | chr5 | 128527469 | ||||||
| chr5:128528129
|
T | C | 7 | a0001c0008t0025g0115a0001c0008t0028g0113a0001c0011t0010g0104others(4): Show | 7 | HG02257.hp2 HG02630.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.437-162A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 3/64 | chr5 | 128528129 | ||||||
| chr5:128528360
|
T | C | 66 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(63): Show | 66 | HG00558.hp2 HG00639.hp1 HG01069.hp1 others(63): Show |
intron_variant | MODIFIER | c.437-393A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 3/64 | chr5 | 128528360 | ||||||
| chr5:128528546
|
C | T | 18 | a0001c0001t0005g0087a0002c0002t0005g0086a0002c0023t0038g0235others(15): Show | 18 | HG00639.hp1 HG01081.hp2 HG01884.hp1 others(15): Show |
intron_variant | MODIFIER | c.437-579G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 3/64 | chr5 | 128528546 | ||||||
| chr5:128528619
|
T | C | 117 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(114): Show | 117 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(114): Show |
intron_variant | MODIFIER | c.437-652A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 3/64 | chr5 | 128528619 | ||||||
| chr5:128528669
|
A | G | 140 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(137): Show | 140 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(137): Show |
intron_variant | MODIFIER | c.437-702T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 3/64 | chr5 | 128528669 | ||||||
| chr5:128528743
|
A | C | 19 | a0001c0003t0005g0100a0001c0009t0002g0040a0001c0009t0002g0049others(16): Show | 19 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(16): Show |
intron_variant | MODIFIER | c.437-776T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 3/64 | chr5 | 128528743 | ||||||
| chr5:128528755
|
T | C | 44 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(41): Show | 44 | HG00099.hp2 HG00741.hp1 HG01074.hp1 others(41): Show |
intron_variant | MODIFIER | c.437-788A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 3/64 | chr5 | 128528755 | ||||||
| chr5:128528775
|
A | G | 1 | a0002c0023t0007g0121 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.437-808T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 3/64 | chr5 | 128528775 | ||||||
| chr5:128529029
|
C | T | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.437-1062G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 3/64 | chr5 | 128529029 | ||||||
| chr5:128529073
|
A | G | 2 | a0001c0008t0006g0023a0001c0028t0002g0022 | 2 | HG02145.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.437-1106T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 3/64 | chr5 | 128529073 | ||||||
| chr5:128529341
|
G | A | 44 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(41): Show | 44 | HG00099.hp2 HG00741.hp1 HG01074.hp1 others(41): Show |
intron_variant | MODIFIER | c.436+1254C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 3/64 | chr5 | 128529341 | ||||||
| chr5:128529377
|
G | A | 26 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(23): Show | 26 | HG00741.hp1 HG01074.hp1 HG01081.hp1 others(23): Show |
intron_variant | MODIFIER | c.436+1218C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 3/64 | chr5 | 128529377 | ||||||
| chr5:128529392
|
T | C | 121 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(118): Show | 121 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(118): Show |
intron_variant | MODIFIER | c.436+1203A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 3/64 | chr5 | 128529392 | ||||||
| chr5:128529667
|
G | C | 48 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(45): Show | 48 | HG00558.hp2 HG01069.hp1 HG01071.hp1 others(45): Show |
intron_variant | MODIFIER | c.436+928C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 3/64 | chr5 | 128529667 | ||||||
| chr5:128529728
|
T | C | 1 | a0003c0007t0005g0052 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.436+867A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 3/64 | chr5 | 128529728 | ||||||
| chr5:128529897
|
C | A | 1 | a0003c0004t0003g0012 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.436+698G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 3/64 | chr5 | 128529897 | ||||||
| chr5:128530283
|
C | T | 1 | a0001c0058t0020g0019 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.436+312G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 3/64 | chr5 | 128530283 | ||||||
| chr5:128530292
|
T | G | 1 | a0003c0004t0002g0103 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.436+303A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 3/64 | chr5 | 128530292 | ||||||
| chr5:128530782
|
G | T | 7 | a0001c0008t0025g0115a0001c0008t0028g0113a0001c0011t0010g0104others(4): Show | 7 | HG02257.hp2 HG02630.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.338-89C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128530782 | ||||||
| chr5:128530805
|
T | C | 1 | a0003c0004t0002g0103 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.338-112A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128530805 | ||||||
| chr5:128530869
|
C | T | 1 | a0003c0004t0002g0103 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.338-176G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128530869 | ||||||
| chr5:128531053
|
T | C | 7 | a0001c0008t0025g0115a0001c0008t0028g0113a0001c0011t0010g0104others(4): Show | 7 | HG02257.hp2 HG02630.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.338-360A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128531053 | ||||||
| chr5:128531095
|
G | A | 1 | a0003c0044t0004g0053 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.338-402C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128531095 | ||||||
| chr5:128531155
|
T | C | 1 | a0003c0004t0002g0103 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.338-462A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128531155 | ||||||
| chr5:128531225
|
G | A | 2 | a0002c0032t0009g0039a0002c0034t0004g0038 | 2 | HG02109.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.338-532C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128531225 | ||||||
| chr5:128531240
|
T | A | 44 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(41): Show | 44 | HG00099.hp2 HG00741.hp1 HG01074.hp1 others(41): Show |
intron_variant | MODIFIER | c.338-547A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128531240 | ||||||
| chr5:128531450
|
T | C | 1 | a0027c0027t0008g0020 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.338-757A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128531450 | ||||||
| chr5:128531531
|
T | C | 2 | a0001c0008t0006g0023a0001c0028t0002g0022 | 2 | HG02145.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.338-838A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128531531 | ||||||
| chr5:128531596
|
G | A | 12 | a0001c0011t0009g0065a0001c0033t0005g0037a0001c0035t0009g0036others(9): Show | 12 | HG01884.hp2 HG02109.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.338-903C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128531596 | ||||||
| chr5:128531643
|
A | G | 2 | a0001c0008t0006g0023a0001c0028t0002g0022 | 2 | HG02145.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.338-950T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128531643 | ||||||
| chr5:128531646
|
T | C | 2 | a0001c0008t0006g0023a0001c0028t0002g0022 | 2 | HG02145.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.338-953A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128531646 | ||||||
| chr5:128531685
|
T | A | 2 | a0001c0008t0006g0023a0001c0028t0002g0022 | 2 | HG02145.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.338-992A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128531685 | ||||||
| chr5:128531698
|
A | G | 27 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(24): Show | 27 | HG00558.hp2 HG01516.hp1 HG01952.hp2 others(24): Show |
intron_variant | MODIFIER | c.338-1005T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128531698 | ||||||
| chr5:128531716
|
ATG | A | 79 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0005g0087others(76): Show | 79 | HG00099.hp2 HG00639.hp1 HG00741.hp1 others(76): Show |
intron_variant | MODIFIER | c.338-1025_338-1024d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128531716 | ||||||
| chr5:128531720
|
G | GTA | 9 | a0001c0009t0006g0030a0003c0010t0008g0085a0003c0044t0004g0053others(6): Show | 9 | HG01496.hp1 HG02055.hp2 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.338-1028_338-1027i others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128531720 | ||||||
| chr5:128531722
|
G | A | 61 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(58): Show | 61 | HG00558.hp2 HG01069.hp1 HG01071.hp1 others(58): Show |
intron_variant | MODIFIER | c.338-1029C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128531722 | ||||||
| chr5:128531722
|
G | GTA | 2 | a0001c0003t0001g0190a0006c0025t0018g0017 | 2 | HG01952.hp1 HG02809.hp1 |
intron_variant | MODIFIER | c.338-1031_338-1030d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128531722 | ||||||
| chr5:128531850
|
A | G | 1 | a0001c0009t0002g0040 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.338-1157T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128531850 | ||||||
| chr5:128532401
|
T | G | 44 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(41): Show | 44 | HG00099.hp2 HG00741.hp1 HG01074.hp1 others(41): Show |
intron_variant | MODIFIER | c.338-1708A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128532401 | ||||||
| chr5:128532471
|
T | C | 5 | a0003c0007t0006g0055a0003c0007t0006g0056a0003c0007t0006g0057others(2): Show | 5 | HG01069.hp1 HG01071.hp1 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.338-1778A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128532471 | ||||||
| chr5:128532506
|
G | A | 121 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(118): Show | 121 | HG00099.hp2 HG00558.hp2 HG00639.hp1 others(118): Show |
intron_variant | MODIFIER | c.338-1813C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128532506 | ||||||
| chr5:128532577
|
T | C | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.338-1884A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128532577 | ||||||
| chr5:128532615
|
A | G | 48 | a0001c0001t0001g0172a0001c0001t0002g0070a0001c0001t0002g0071others(45): Show | 48 | HG00558.hp2 HG01069.hp1 HG01071.hp1 others(45): Show |
intron_variant | MODIFIER | c.338-1922T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128532615 | ||||||
| chr5:128532769
|
G | A | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.338-2076C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128532769 | ||||||
| chr5:128532788
|
G | A | 18 | a0001c0001t0005g0087a0002c0002t0005g0086a0002c0023t0038g0235others(15): Show | 18 | HG00639.hp1 HG01081.hp2 HG01884.hp1 others(15): Show |
intron_variant | MODIFIER | c.338-2095C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128532788 | ||||||
| chr5:128532962
|
C | A | 7 | a0001c0008t0025g0115a0001c0008t0028g0113a0001c0011t0010g0104others(4): Show | 7 | HG02257.hp2 HG02630.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.338-2269G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128532962 | ||||||
| chr5:128532964
|
C | T | 1 | a0003c0004t0001g0124 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.338-2271G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128532964 | ||||||
| chr5:128533350
|
T | C | 7 | a0001c0008t0025g0115a0001c0008t0028g0113a0001c0011t0010g0104others(4): Show | 7 | HG02257.hp2 HG02630.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.338-2657A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128533350 | ||||||
| chr5:128533447
|
C | A | 1 | a0005c0017t0003g0015 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.338-2754G>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128533447 | ||||||
| chr5:128533796
|
T | C | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.337+2606A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128533796 | ||||||
| chr5:128533890
|
C | T | 44 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(41): Show | 44 | HG00099.hp2 HG00741.hp1 HG01074.hp1 others(41): Show |
intron_variant | MODIFIER | c.337+2512G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128533890 | ||||||
| chr5:128534169
|
A | G | 7 | a0001c0008t0025g0115a0001c0008t0028g0113a0001c0011t0010g0104others(4): Show | 7 | HG02257.hp2 HG02630.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.337+2233T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128534169 | ||||||
| chr5:128534314
|
C | T | 7 | a0001c0008t0025g0115a0001c0008t0028g0113a0001c0011t0010g0104others(4): Show | 7 | HG02257.hp2 HG02630.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.337+2088G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128534314 | ||||||
| chr5:128534335
|
C | G | 1 | a0002c0039t0005g0031 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.337+2067G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128534335 | ||||||
| chr5:128534394
|
A | G | 69 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(66): Show | 69 | HG00099.hp2 HG00639.hp1 HG00741.hp1 others(66): Show |
intron_variant | MODIFIER | c.337+2008T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128534394 | ||||||
| chr5:128534497
|
T | C | 160 | a0001c0001t0001g0172a0001c0001t0001g0175a0001c0001t0001g0184others(157): Show | 160 | HG00099.hp1 HG00099.hp2 HG00558.hp2 others(157): Show |
intron_variant | MODIFIER | c.337+1905A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128534497 | ||||||
| chr5:128534539
|
TATAA | T | 2 | a0003c0007t0006g0057a0003c0007t0006g0058 | 2 | HG03041.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.337+1859_337+1862d others(6): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128534539 | ||||||
| chr5:128534778
|
T | C | 1 | a0011c0018t0003g0016 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.337+1624A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128534778 | ||||||
| chr5:128534823
|
G | A | 1 | a0003c0006t0004g0051 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.337+1579C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128534823 | ||||||
| chr5:128534857
|
TC | T | 8 | a0001c0003t0005g0100a0001c0008t0029g0117a0001c0009t0006g0028others(5): Show | 8 | HG02559.hp1 HG02647.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.337+1544delG | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128534857 | ||||||
| chr5:128534888
|
C | T | 2 | a0002c0002t0001g0212a0002c0002t0001g0213 | 2 | NA18975.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.337+1514G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128534888 | ||||||
| chr5:128534932
|
C | T | 63 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(60): Show | 63 | HG00099.hp2 HG00639.hp1 HG00741.hp1 others(60): Show |
intron_variant | MODIFIER | c.337+1470G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128534932 | ||||||
| chr5:128534949
|
T | C | 63 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(60): Show | 63 | HG00099.hp2 HG00639.hp1 HG00741.hp1 others(60): Show |
intron_variant | MODIFIER | c.337+1453A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128534949 | ||||||
| chr5:128535024
|
G | T | 1 | a0003c0004t0002g0083 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.337+1378C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128535024 | ||||||
| chr5:128535237
|
G | C | 1 | a0001c0001t0001g0231 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.337+1165C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128535237 | ||||||
| chr5:128535240
|
G | T | 32 | a0001c0001t0002g0070a0001c0001t0002g0071a0001c0001t0002g0072others(29): Show | 32 | HG00558.hp2 HG01516.hp1 HG01952.hp2 others(29): Show |
intron_variant | MODIFIER | c.337+1162C>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128535240 | ||||||
| chr5:128535339
|
CAG | C | 35 | a0001c0003t0005g0100a0001c0008t0006g0023a0001c0008t0029g0117others(32): Show | 35 | HG01256.hp2 HG01258.hp1 HG01496.hp1 others(32): Show |
intron_variant | MODIFIER | c.337+1061_337+1062d others(4): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128535339 | ||||||
| chr5:128535474
|
T | G | 1 | a0001c0021t0001g0206 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.337+928A>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128535474 | ||||||
| chr5:128535478
|
T | C | 2 | a0003c0010t0008g0085a0003c0065t0011g0084 | 2 | HG02818.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.337+924A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128535478 | ||||||
| chr5:128535526
|
T | C | 32 | a0001c0001t0002g0070a0001c0001t0002g0071a0001c0001t0002g0072others(29): Show | 32 | HG00558.hp2 HG01516.hp1 HG01952.hp2 others(29): Show |
intron_variant | MODIFIER | c.337+876A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128535526 | ||||||
| chr5:128535561
|
A | G | 35 | a0001c0001t0002g0070a0001c0001t0002g0071a0001c0001t0002g0072others(32): Show | 35 | HG00558.hp2 HG01516.hp1 HG01952.hp2 others(32): Show |
intron_variant | MODIFIER | c.337+841T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128535561 | ||||||
| chr5:128535638
|
C | T | 6 | a0001c0008t0025g0115a0001c0008t0028g0113a0001c0008t0029g0117others(3): Show | 6 | HG02630.hp1 HG02647.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.337+764G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128535638 | ||||||
| chr5:128535817
|
C | CA | 43 | a0001c0001t0002g0082a0001c0008t0006g0023a0001c0009t0002g0040others(40): Show | 43 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(40): Show |
intron_variant | MODIFIER | c.337+584dupT | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128535817 | ||||||
| chr5:128535817
|
C | CAA | 37 | a0001c0001t0003g0002a0001c0001t0003g0011a0001c0001t0003g0013others(34): Show | 37 | HG00639.hp1 HG01074.hp1 HG01081.hp1 others(34): Show |
intron_variant | MODIFIER | c.337+583_337+584dup others(2): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128535817 | ||||||
| chr5:128535830
|
A | C | 2 | a0002c0002t0001g0210a0002c0002t0001g0211 | 2 | NA18956.hp1 NA18964.hp1 |
intron_variant | MODIFIER | c.337+572T>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128535830 | ||||||
| chr5:128535918
|
C | G | 30 | a0001c0009t0002g0040a0001c0009t0002g0049a0001c0009t0006g0028others(27): Show | 30 | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(27): Show |
intron_variant | MODIFIER | c.337+484G>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128535918 | ||||||
| chr5:128536057
|
C | T | 120 | a0001c0001t0002g0070a0001c0001t0002g0071a0001c0001t0002g0072others(117): Show | 120 | HG00558.hp2 HG00639.hp1 HG00741.hp1 others(117): Show |
intron_variant | MODIFIER | c.337+345G>A | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128536057 | ||||||
| chr5:128536065
|
T | C | 2 | a0002c0023t0038g0235a0022c0066t0021g0101 | 2 | HG02280.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.337+337A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128536065 | ||||||
| chr5:128536138
|
T | C | 1 | a0004c0005t0001g0209 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.337+264A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128536138 | ||||||
| chr5:128536217
|
T | C | 23 | a0001c0001t0001g0226a0001c0001t0001g0227a0001c0001t0001g0229others(20): Show | 23 | HG00558.hp1 HG00609.hp2 HG01975.hp1 others(20): Show |
intron_variant | MODIFIER | c.337+185A>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128536217 | ||||||
| chr5:128536363
|
G | C | 4 | a0001c0011t0010g0104a0002c0002t0005g0102a0003c0004t0002g0103others(1): Show | 4 | HG02970.hp2 HG03195.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.337+39C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 2/64 | chr5 | 128536363 | ||||||
| chr5:128536621
|
A | G | 47 | a0001c0008t0006g0023a0001c0008t0025g0115a0001c0008t0028g0113others(44): Show | 47 | HG01069.hp1 HG01071.hp1 HG01256.hp2 others(44): Show |
intron_variant | MODIFIER | c.255-137T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/64 | chr5 | 128536621 | ||||||
| chr5:128536651
|
G | A | 1 | a0006c0025t0018g0017 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.255-167C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/64 | chr5 | 128536651 | ||||||
| chr5:128537022
|
G | A | 1 | a0003c0004t0036g0233 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.254+328C>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/64 | chr5 | 128537022 | ||||||
| chr5:128537047
|
G | C | 47 | a0001c0008t0006g0023a0001c0008t0025g0115a0001c0008t0028g0113others(44): Show | 47 | HG01069.hp1 HG01071.hp1 HG01256.hp2 others(44): Show |
intron_variant | MODIFIER | c.254+303C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/64 | chr5 | 128537047 | ||||||
| chr5:128537076
|
A | G | 47 | a0001c0008t0006g0023a0001c0008t0025g0115a0001c0008t0028g0113others(44): Show | 47 | HG01069.hp1 HG01071.hp1 HG01256.hp2 others(44): Show |
intron_variant | MODIFIER | c.254+274T>C | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/64 | chr5 | 128537076 | ||||||
| chr5:128537088
|
G | C | 1 | a0004c0005t0001g0232 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.254+262C>G | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/64 | chr5 | 128537088 | ||||||
| chr5:128537200
|
T | TG | 47 | a0001c0008t0006g0023a0001c0008t0025g0115a0001c0008t0028g0113others(44): Show | 47 | HG01069.hp1 HG01071.hp1 HG01256.hp2 others(44): Show |
intron_variant | MODIFIER | c.254+149dupC | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/64 | chr5 | 128537200 | ||||||
| chr5:128537260
|
T | A | 47 | a0001c0008t0006g0023a0001c0008t0025g0115a0001c0008t0028g0113others(44): Show | 47 | HG01069.hp1 HG01071.hp1 HG01256.hp2 others(44): Show |
intron_variant | MODIFIER | c.254+90A>T | FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1/64 | chr5 | 128537260 |