Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 2200 |
|---|---|
| ensemblid | ENSG00000166147.15 |
| hgncid | 3603 |
| symbol | FBN1 |
| name | fibrillin 1 |
| refseq_nuc | NM_000138.5 |
| refseq_prot | NP_000129.3 |
| ensembl_nuc | ENST00000316623.10 |
| ensembl_prot | ENSP00000325527.5 |
| mane_status | MANE Select |
| chr | chr15 |
| start | 48408313 |
| end | 48645709 |
| strand | - |
| ver | v1.2 |
| region | chr15:48408313-48645709 |
| region5000 | chr15:48403313-48650709 |
| regionname0 | FBN1_chr15_48408313_48645709 |
| regionname5000 | FBN1_chr15_48403313_48650709 |
| ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 2871 | 239 | 71 | 30 | 88 | 10 | 38 | 68 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0002 | 0/0 | 2871 | 38 | 2 | 3 | 33 | 0 | 0 | 29 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0003 | 0/0 | 2871 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0004 | 0/0 | 2871 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0005 | 0/0 | 2871 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0006 | 0/0 | 2871 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0007 | 0/0 | 2871 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0008 | 0/0 | 2871 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0009 | 0/0 | 2871 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0010 | 0/0 | 2871 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0011 | 0/0 | 2871 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0012 | 0/0 | 2871 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 1/1 | 8616 | 137 | 23 | 20 | 58 | 6 | 28 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0002 | 0/0 | 8616 | 45 | 20 | 9 | 7 | 3 | 6 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0003 | 0/0 | 8616 | 36 | 0 | 3 | 33 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0004 | 0/0 | 8616 | 30 | 2 | 0 | 23 | 1 | 4 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0005 | 0/0 | 8616 | 14 | 14 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0006 | 0/0 | 8616 | 2 | 2 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0007 | 0/0 | 8616 | 2 | 2 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0008 | 0/0 | 8616 | 2 | 2 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0009 | 0/0 | 8616 | 2 | 2 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0010 | 0/0 | 8616 | 2 | 2 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0011 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0012 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0013 | 0/0 | 8616 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0014 | 0/0 | 8616 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0015 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0016 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0017 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0018 | 0/0 | 8616 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0019 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0020 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0021 | 0/0 | 8616 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0022 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0023 | 0/0 | 8616 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0024 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0025 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| c0026 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| 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 | 2994 | 109 | 19 | 11 | 54 | 2 | 22 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0002 | 0/0 | 2994 | 35 | 17 | 4 | 7 | 3 | 4 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0003 | 1/0 | 2994 | 29 | 8 | 7 | 6 | 2 | 5 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0004 | 0/0 | 2994 | 28 | 1 | 0 | 22 | 1 | 4 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0005 | 0/0 | 2994 | 23 | 5 | 2 | 16 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0006 | 0/0 | 2994 | 13 | 0 | 1 | 12 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0007 | 0/0 | 2994 | 7 | 6 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0008 | 0/0 | 2994 | 6 | 6 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0009 | 0/0 | 2994 | 6 | 0 | 2 | 4 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0010 | 0/0 | 2994 | 5 | 5 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0011 | 0/0 | 2994 | 5 | 4 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0012 | 0/0 | 2994 | 3 | 2 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0013 | 0/0 | 2994 | 3 | 3 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0014 | 0/0 | 2994 | 2 | 2 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0015 | 0/0 | 2994 | 2 | 0 | 2 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0016 | 0/0 | 2994 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0017 | 0/0 | 2994 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0018 | 0/0 | 2994 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0019 | 0/0 | 2994 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0020 | 0/0 | 2994 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0021 | 0/0 | 2994 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0022 | 0/0 | 2994 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0023 | 0/0 | 2994 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0024 | 0/0 | 2994 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0025 | 0/0 | 2994 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0026 | 0/0 | 2994 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| t0027 | 0/0 | 2994 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0019 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0029 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0032 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0033 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0034 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0072 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0074 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0078 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0086 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0095 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0098 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0100 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0107 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0137 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0188 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0216 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0218 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0226 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0232 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0233 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0238 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0239 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0240 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0241 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0242 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0243 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0245 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0246 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0248 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0250 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0251 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0252 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0253 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0259 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0260 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0261 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0262 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0263 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0264 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0267 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0268 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0270 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0271 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0274 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0276 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0277 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0278 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0279 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0280 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0282 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0283 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0284 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0285 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0286 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| g0288 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 8616 | 137 | 23 | 20 | 58 | 6 | 28 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0002 | 0/0 | 8616 | 45 | 20 | 9 | 7 | 3 | 6 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0004 | 0/0 | 8616 | 30 | 2 | 0 | 23 | 1 | 4 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0005 | 0/0 | 8616 | 14 | 14 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0006 | 0/0 | 8616 | 2 | 2 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0007 | 0/0 | 8616 | 2 | 2 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0010 | 0/0 | 8616 | 2 | 2 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0012 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0015 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0021 | 0/0 | 8616 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0022 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0024 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0025 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0026 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0002c0003 | 0/0 | 8616 | 36 | 0 | 3 | 33 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0002c0009 | 0/0 | 8616 | 2 | 2 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0003c0008 | 0/0 | 8616 | 2 | 2 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0004c0017 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0005c0016 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0006c0018 | 0/0 | 8616 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0007c0019 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0008c0013 | 0/0 | 8616 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0009c0014 | 0/0 | 8616 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0010c0020 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0011c0023 | 0/0 | 8616 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0012c0011 | 0/0 | 8616 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 11609 | 92 | 9 | 9 | 49 | 2 | 22 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0001t0002 | 0/0 | 11609 | 17 | 5 | 4 | 1 | 3 | 4 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0001t0003 | 1/0 | 11609 | 2 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0001t0005 | 0/0 | 11609 | 5 | 3 | 0 | 2 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0001t0008 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0001t0009 | 0/0 | 11609 | 6 | 0 | 2 | 4 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0001t0010 | 0/0 | 11609 | 2 | 2 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0001t0011 | 0/0 | 11609 | 3 | 2 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0001t0012 | 0/0 | 11609 | 2 | 1 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0001t0015 | 0/0 | 11609 | 2 | 0 | 2 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0001t0019 | 0/0 | 11609 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0001t0020 | 0/0 | 11609 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0001t0024 | 0/0 | 11609 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0001t0025 | 0/0 | 11609 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0001t0026 | 0/0 | 11609 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0002t0001 | 0/0 | 11609 | 6 | 4 | 1 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0002t0002 | 0/0 | 11609 | 8 | 8 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0002t0003 | 0/0 | 11609 | 21 | 3 | 6 | 5 | 2 | 5 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0002t0004 | 0/0 | 11609 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0002t0007 | 0/0 | 11609 | 2 | 1 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0002t0008 | 0/0 | 11609 | 4 | 4 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0002t0017 | 0/0 | 11609 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0002t0018 | 0/0 | 11609 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0002t0023 | 0/0 | 11609 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0004t0004 | 0/0 | 11609 | 27 | 1 | 0 | 21 | 1 | 4 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0004t0010 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0004t0016 | 0/0 | 11609 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0004t0022 | 0/0 | 11609 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0005t0001 | 0/0 | 11609 | 2 | 2 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0005t0002 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0005t0003 | 0/0 | 11609 | 4 | 4 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0005t0007 | 0/0 | 11609 | 5 | 5 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0005t0013 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0005t0014 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0006t0013 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0006t0014 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0007t0002 | 0/0 | 11609 | 2 | 2 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0010t0003 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0010t0011 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0012t0010 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0015t0001 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0021t0001 | 0/0 | 11609 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0022t0013 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0024t0010 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0025t0008 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0001c0026t0021 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0002c0003t0001 | 0/0 | 11609 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0002c0003t0002 | 0/0 | 11609 | 6 | 0 | 0 | 6 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0002c0003t0005 | 0/0 | 11609 | 16 | 0 | 2 | 14 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0002c0003t0006 | 0/0 | 11609 | 13 | 0 | 1 | 12 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0002c0009t0001 | 0/0 | 11609 | 2 | 2 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0003c0008t0005 | 0/0 | 11609 | 2 | 2 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0004c0017t0002 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0005c0016t0011 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0006c0018t0001 | 0/0 | 11609 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0007c0019t0012 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0008c0013t0003 | 0/0 | 11609 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0009c0014t0001 | 0/0 | 11609 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0010c0020t0001 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0011c0023t0001 | 0/0 | 11609 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| a0012c0011t0027 | 0/0 | 11609 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | copy fasta | chr15 | 48403313 | 48650709 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0226 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0232 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0233 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0238 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0239 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0240 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0241 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0242 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0243 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0245 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0248 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0250 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0251 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0252 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0259 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0260 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0262 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0263 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0270 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0271 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0277 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0278 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0279 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0001g0286 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0002g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0002g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0002g0072 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0002g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0002g0074 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0002g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0002g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0002g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0002g0078 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0002g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0002g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0002g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0002g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0002g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0002g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0002g0216 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0002g0288 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0003g0086 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0003g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0005g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0005g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0005g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0005g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0005g0280 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0008g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0009g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0009g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0009g0264 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0009g0267 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0009g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0009g0274 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0010g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0010g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0011g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0011g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0011g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0012g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0012g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0015g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0015g0276 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0019g0246 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0020g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0024g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0025g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0001t0026g0268 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0001g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0001g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0001g0283 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0002g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0002g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0002g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0002g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0002g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0002g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0002g0282 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0002g0284 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0003g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0003g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0003g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0003g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0003g0029 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0003g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0003g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0003g0032 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0003g0033 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0003g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0003g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0003g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0003g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0003g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0003g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0003g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0003g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0003g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0003g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0003g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0003g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0004g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0007g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0007g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0008g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0008g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0008g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0008g0285 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0017g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0018g0253 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0002t0023g0034 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0137 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0004g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0010g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0016g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0004t0022g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0005t0001g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0005t0001g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0005t0002g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0005t0003g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0005t0003g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0005t0003g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0005t0003g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0005t0007g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0005t0007g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0005t0007g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0005t0007g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0005t0007g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0005t0013g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0005t0014g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0006t0013g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0006t0014g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0007t0002g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0007t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0010t0003g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0010t0011g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0012t0010g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0015t0001g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0021t0001g0218 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0022t0013g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0024t0010g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0025t0008g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0001c0026t0021g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0002g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0002g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0002g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0002g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0002g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0002g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0005g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0005g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0005g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0005g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0005g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0005g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0005g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0005g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0005g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0005g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0005g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0005g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0005g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0005g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0005g0261 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0005g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0006g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0006g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0006g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0006g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0006g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0006g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0006g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0006g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0006g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0006g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0006g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0006g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0003t0006g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0009t0001g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0002c0009t0001g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0003c0008t0005g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0003c0008t0005g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0004c0017t0002g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0005c0016t0011g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0006c0018t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0007c0019t0012g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0008c0013t0003g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0009c0014t0001g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0010c0020t0001g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0011c0023t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| a0012c0011t0027g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0002 | t0023 | g0034 | EUR | GBR | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG00099 | hp2 | a0001 | c0001 | t0019 | g0246 | EUR | GBR | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG00408 | hp1 | a0006 | c0018 | t0001 | g0179 | EAS | CHS | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG00408 | hp2 | a0001 | c0004 | t0004 | g0140 | EAS | CHS | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG00544 | hp1 | a0001 | c0004 | t0016 | g0050 | EAS | CHS | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0265 | EAS | CHS | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG00597 | hp1 | a0002 | c0003 | t0005 | g0169 | EAS | CHS | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0231 | EAS | CHS | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0172 | EAS | CHS | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0104 | EAS | CHS | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG00642 | hp1 | a0001 | c0002 | t0017 | g0040 | AMR | PUR | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG00642 | hp2 | a0001 | c0001 | t0002 | g0077 | AMR | PUR | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0222 | EAS | CHS | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0092 | EAS | CHS | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0250 | AMR | PUR | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG00741 | hp2 | a0001 | c0002 | t0003 | g0037 | AMR | PUR | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01106 | hp1 | a0001 | c0002 | t0003 | g0031 | AMR | PUR | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01106 | hp2 | a0001 | c0001 | t0001 | g0242 | AMR | PUR | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01167 | hp1 | a0001 | c0001 | t0012 | g0113 | AMR | PUR | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01167 | hp2 | a0001 | c0002 | t0001 | g0020 | AMR | PUR | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0230 | AMR | PUR | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01175 | hp2 | a0001 | c0002 | t0003 | g0025 | AMR | PUR | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01192 | hp1 | a0008 | c0013 | t0003 | g0028 | AMR | PUR | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01192 | hp2 | a0001 | c0001 | t0015 | g0097 | AMR | PUR | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01243 | hp1 | a0001 | c0001 | t0011 | g0009 | AMR | PUR | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01243 | hp2 | a0001 | c0001 | t0001 | g0262 | AMR | PUR | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01255 | hp1 | a0001 | c0002 | t0007 | g0127 | AMR | CLM | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01255 | hp2 | a0001 | c0002 | t0003 | g0042 | AMR | CLM | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01257 | hp1 | a0001 | c0021 | t0001 | g0218 | AMR | CLM | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01257 | hp2 | a0001 | c0001 | t0001 | g0110 | AMR | CLM | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0226 | AMR | CLM | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01258 | hp2 | a0001 | c0001 | t0025 | g0109 | AMR | CLM | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0243 | AMR | CLM | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01346 | hp2 | a0002 | c0003 | t0006 | g0153 | AMR | CLM | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01361 | hp1 | a0001 | c0001 | t0002 | g0073 | AMR | CLM | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01361 | hp2 | a0001 | c0002 | t0003 | g0030 | AMR | CLM | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01516 | hp1 | a0001 | c0001 | t0001 | g0098 | EUR | IBS | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01516 | hp2 | a0001 | c0002 | t0003 | g0032 | EUR | IBS | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01517 | hp1 | a0001 | c0002 | t0003 | g0033 | EUR | IBS | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01517 | hp2 | a0001 | c0001 | t0002 | g0072 | EUR | IBS | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01884 | hp1 | a0001 | c0001 | t0010 | g0018 | AFR | ACB | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01884 | hp2 | a0001 | c0012 | t0010 | g0016 | AFR | ACB | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01928 | hp1 | a0001 | c0001 | t0009 | g0267 | AMR | PEL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01928 | hp2 | a0001 | c0001 | t0001 | g0101 | AMR | PEL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01978 | hp1 | a0001 | c0002 | t0003 | g0035 | AMR | PEL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01978 | hp2 | a0001 | c0001 | t0009 | g0264 | AMR | PEL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01981 | hp1 | a0001 | c0001 | t0002 | g0079 | AMR | PEL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01981 | hp2 | a0002 | c0003 | t0005 | g0261 | AMR | PEL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0228 | EAS | KHV | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02027 | hp2 | a0002 | c0003 | t0006 | g0163 | EAS | KHV | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02056 | hp1 | a0001 | c0002 | t0003 | g0082 | EAS | KHV | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02056 | hp2 | a0001 | c0001 | t0005 | g0223 | EAS | KHV | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02080 | hp1 | a0001 | c0001 | t0009 | g0257 | EAS | KHV | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02080 | hp2 | a0002 | c0003 | t0006 | g0164 | EAS | KHV | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0254 | EAS | KHV | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02135 | hp2 | a0009 | c0014 | t0001 | g0227 | EAS | KHV | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0111 | EAS | CDX | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02155 | hp2 | a0001 | c0004 | t0004 | g0064 | EAS | CDX | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02165 | hp1 | a0001 | c0002 | t0003 | g0044 | EAS | CDX | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02165 | hp2 | a0001 | c0001 | t0005 | g0221 | EAS | CDX | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02257 | hp1 | a0003 | c0008 | t0005 | g0122 | AFR | ACB | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02257 | hp2 | a0001 | c0002 | t0002 | g0125 | AFR | ACB | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02258 | hp1 | a0001 | c0006 | t0014 | g0004 | AFR | ACB | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02258 | hp2 | a0001 | c0001 | t0002 | g0091 | AFR | ACB | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02280 | hp1 | a0001 | c0015 | t0001 | g0219 | AFR | ACB | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02280 | hp2 | a0001 | c0002 | t0002 | g0126 | AFR | ACB | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02293 | hp1 | a0002 | c0003 | t0005 | g0156 | AMR | PEL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02293 | hp2 | a0001 | c0001 | t0002 | g0071 | AMR | PEL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02451 | hp1 | a0005 | c0016 | t0011 | g0123 | AFR | ACB | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02451 | hp2 | a0001 | c0002 | t0008 | g0134 | AFR | ACB | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0220 | EAS | KHV | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02523 | hp2 | a0001 | c0004 | t0004 | g0054 | EAS | KHV | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02572 | hp1 | a0001 | c0010 | t0011 | g0193 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02572 | hp2 | a0001 | c0001 | t0005 | g0136 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0177 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02602 | hp2 | a0001 | c0002 | t0003 | g0039 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02615 | hp1 | a0001 | c0005 | t0014 | g0196 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0131 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02622 | hp1 | a0001 | c0001 | t0008 | g0121 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02622 | hp2 | a0001 | c0005 | t0007 | g0200 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02630 | hp1 | a0001 | c0002 | t0002 | g0282 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0279 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0251 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02683 | hp2 | a0001 | c0002 | t0003 | g0027 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02698 | hp1 | a0001 | c0002 | t0003 | g0026 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0238 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0128 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02717 | hp2 | a0001 | c0005 | t0003 | g0204 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02723 | hp1 | a0001 | c0005 | t0001 | g0198 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02723 | hp2 | a0001 | c0005 | t0007 | g0197 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02735 | hp1 | a0001 | c0001 | t0002 | g0078 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0245 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02738 | hp1 | a0001 | c0004 | t0004 | g0048 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02738 | hp2 | a0001 | c0001 | t0001 | g0270 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02809 | hp1 | a0002 | c0009 | t0001 | g0212 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0130 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02818 | hp1 | a0001 | c0024 | t0010 | g0195 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02818 | hp2 | a0001 | c0002 | t0001 | g0011 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02886 | hp1 | a0001 | c0002 | t0003 | g0024 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02886 | hp2 | a0001 | c0002 | t0002 | g0084 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02896 | hp1 | a0001 | c0007 | t0002 | g0014 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02896 | hp2 | a0004 | c0017 | t0002 | g0023 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02897 | hp1 | a0001 | c0001 | t0002 | g0003 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02897 | hp2 | a0001 | c0007 | t0002 | g0013 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02922 | hp1 | a0001 | c0001 | t0002 | g0076 | AFR | ESN | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02922 | hp2 | a0001 | c0022 | t0013 | g0010 | AFR | ESN | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02965 | hp1 | a0001 | c0001 | t0011 | g0007 | AFR | ESN | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02965 | hp2 | a0001 | c0005 | t0003 | g0208 | AFR | ESN | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02970 | hp1 | a0001 | c0005 | t0003 | g0210 | AFR | ESN | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02970 | hp2 | a0001 | c0001 | t0002 | g0075 | AFR | ESN | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0278 | AFR | ESN | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02976 | hp2 | a0001 | c0005 | t0007 | g0205 | AFR | ESN | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03017 | hp1 | a0001 | c0002 | t0003 | g0029 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0248 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03041 | hp1 | a0001 | c0005 | t0013 | g0199 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03041 | hp2 | a0001 | c0001 | t0005 | g0280 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03098 | hp1 | a0001 | c0002 | t0002 | g0005 | AFR | MSL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03098 | hp2 | a0002 | c0009 | t0001 | g0211 | AFR | MSL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03130 | hp1 | a0001 | c0005 | t0003 | g0209 | AFR | ESN | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03130 | hp2 | a0001 | c0002 | t0001 | g0283 | AFR | ESN | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03195 | hp1 | a0001 | c0005 | t0001 | g0201 | AFR | ESN | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03195 | hp2 | a0012 | c0011 | t0027 | g0213 | AFR | ESN | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03209 | hp1 | a0001 | c0006 | t0013 | g0215 | AFR | MSL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03209 | hp2 | a0001 | c0002 | t0001 | g0022 | AFR | MSL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0277 | AFR | MSL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03225 | hp2 | a0001 | c0001 | t0010 | g0225 | AFR | MSL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03239 | hp1 | a0001 | c0002 | t0018 | g0253 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0188 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03453 | hp1 | a0001 | c0001 | t0005 | g0141 | AFR | MSL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03453 | hp2 | a0001 | c0002 | t0008 | g0135 | AFR | MSL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03486 | hp1 | a0001 | c0026 | t0021 | g0194 | AFR | MSL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03486 | hp2 | a0001 | c0002 | t0002 | g0085 | AFR | MSL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03490 | hp1 | a0001 | c0001 | t0026 | g0268 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03490 | hp2 | a0001 | c0001 | t0001 | g0096 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0240 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03491 | hp2 | a0001 | c0001 | t0002 | g0081 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03516 | hp1 | a0001 | c0001 | t0002 | g0214 | AFR | ESN | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03516 | hp2 | a0010 | c0020 | t0001 | g0129 | AFR | ESN | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03540 | hp1 | a0003 | c0008 | t0005 | g0015 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03540 | hp2 | a0001 | c0002 | t0002 | g0284 | AFR | GWD | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03579 | hp1 | a0001 | c0004 | t0004 | g0017 | AFR | MSL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03579 | hp2 | a0001 | c0002 | t0007 | g0021 | AFR | MSL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03654 | hp1 | a0001 | c0004 | t0004 | g0069 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03654 | hp2 | a0001 | c0001 | t0001 | g0232 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0260 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03669 | hp2 | a0001 | c0002 | t0003 | g0041 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0252 | SAS | STU | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03688 | hp2 | a0001 | c0001 | t0001 | g0116 | SAS | STU | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03704 | hp1 | a0001 | c0001 | t0020 | g0070 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0241 | SAS | PJL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03831 | hp1 | a0001 | c0004 | t0004 | g0068 | SAS | BEB | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0100 | SAS | BEB | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03834 | hp1 | a0001 | c0004 | t0004 | g0052 | SAS | BEB | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03834 | hp2 | a0001 | c0001 | t0002 | g0288 | SAS | BEB | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0176 | SAS | STU | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0107 | SAS | STU | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0271 | SAS | STU | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG04204 | hp2 | a0001 | c0001 | t0002 | g0080 | SAS | STU | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0019 | SAS | STU | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0108 | SAS | STU | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18522 | hp1 | a0001 | c0001 | t0011 | g0008 | AFR | YRI | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18522 | hp2 | a0007 | c0019 | t0012 | g0115 | AFR | YRI | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18747 | hp1 | a0001 | c0001 | t0024 | g0112 | EAS | CHB | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18747 | hp2 | a0002 | c0003 | t0005 | g0170 | EAS | CHB | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18943 | hp1 | a0001 | c0002 | t0004 | g0043 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18943 | hp2 | a0002 | c0003 | t0005 | g0175 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0235 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18944 | hp2 | a0002 | c0003 | t0006 | g0158 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18945 | hp2 | a0002 | c0003 | t0005 | g0159 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18946 | hp1 | a0001 | c0001 | t0001 | g0090 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18946 | hp2 | a0001 | c0004 | t0004 | g0083 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18947 | hp1 | a0001 | c0001 | t0001 | g0119 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18947 | hp2 | a0002 | c0003 | t0006 | g0166 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18954 | hp1 | a0001 | c0001 | t0001 | g0191 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18954 | hp2 | a0001 | c0004 | t0022 | g0139 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18956 | hp1 | a0002 | c0003 | t0002 | g0147 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18956 | hp2 | a0001 | c0001 | t0001 | g0117 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0186 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18959 | hp2 | a0001 | c0001 | t0001 | g0120 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0178 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18960 | hp2 | a0001 | c0004 | t0004 | g0061 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0102 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18962 | hp2 | a0001 | c0001 | t0001 | g0183 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18963 | hp1 | a0001 | c0002 | t0001 | g0051 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18963 | hp2 | a0001 | c0004 | t0004 | g0138 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0132 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18965 | hp2 | a0002 | c0003 | t0002 | g0145 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18968 | hp1 | a0002 | c0003 | t0002 | g0189 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18968 | hp2 | a0001 | c0001 | t0001 | g0180 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18969 | hp1 | a0001 | c0001 | t0001 | g0103 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18969 | hp2 | a0002 | c0003 | t0005 | g0144 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18971 | hp1 | a0002 | c0003 | t0005 | g0142 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0249 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18975 | hp1 | a0001 | c0004 | t0004 | g0287 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18975 | hp2 | a0001 | c0001 | t0001 | g0256 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18978 | hp1 | a0001 | c0001 | t0001 | g0181 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18978 | hp2 | a0002 | c0003 | t0006 | g0173 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18981 | hp1 | a0002 | c0003 | t0005 | g0171 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18981 | hp2 | a0001 | c0001 | t0001 | g0094 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18982 | hp1 | a0001 | c0001 | t0001 | g0185 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18982 | hp2 | a0001 | c0004 | t0004 | g0059 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0187 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18983 | hp2 | a0002 | c0003 | t0005 | g0157 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18986 | hp1 | a0002 | c0003 | t0006 | g0150 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18986 | hp2 | a0001 | c0001 | t0001 | g0269 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18990 | hp2 | a0001 | c0001 | t0001 | g0106 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18992 | hp1 | a0001 | c0004 | t0004 | g0066 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18992 | hp2 | a0001 | c0001 | t0009 | g0258 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18993 | hp1 | a0001 | c0004 | t0004 | g0063 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18993 | hp2 | a0002 | c0003 | t0006 | g0149 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18994 | hp1 | a0002 | c0003 | t0006 | g0160 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18994 | hp2 | a0001 | c0001 | t0002 | g0087 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0229 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18995 | hp2 | a0002 | c0003 | t0006 | g0161 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18999 | hp1 | a0001 | c0001 | t0001 | g0272 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA18999 | hp2 | a0002 | c0003 | t0005 | g0281 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19000 | hp1 | a0001 | c0004 | t0004 | g0049 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0275 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19002 | hp1 | a0002 | c0003 | t0005 | g0146 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19002 | hp2 | a0001 | c0004 | t0004 | g0060 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19003 | hp1 | a0002 | c0003 | t0002 | g0155 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19003 | hp2 | a0001 | c0001 | t0001 | g0259 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0255 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19004 | hp2 | a0001 | c0002 | t0003 | g0047 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19005 | hp1 | a0001 | c0004 | t0004 | g0053 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19005 | hp2 | a0001 | c0001 | t0001 | g0236 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0118 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19007 | hp2 | a0002 | c0003 | t0006 | g0167 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19010 | hp1 | a0001 | c0002 | t0003 | g0045 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19010 | hp2 | a0002 | c0003 | t0002 | g0154 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19012 | hp1 | a0001 | c0001 | t0009 | g0273 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19012 | hp2 | a0001 | c0004 | t0004 | g0057 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19030 | hp1 | a0001 | c0010 | t0003 | g0192 | AFR | LWK | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19030 | hp2 | a0001 | c0005 | t0007 | g0207 | AFR | LWK | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19043 | hp1 | a0001 | c0001 | t0012 | g0114 | AFR | LWK | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0244 | AFR | LWK | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19056 | hp1 | a0001 | c0002 | t0003 | g0046 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19056 | hp2 | a0001 | c0001 | t0001 | g0182 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19060 | hp1 | a0001 | c0004 | t0004 | g0055 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19060 | hp2 | a0001 | c0001 | t0001 | g0247 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19062 | hp1 | a0001 | c0001 | t0003 | g0224 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19062 | hp2 | a0002 | c0003 | t0005 | g0143 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19065 | hp1 | a0001 | c0001 | t0001 | g0263 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19065 | hp2 | a0002 | c0003 | t0006 | g0151 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0266 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19070 | hp2 | a0002 | c0003 | t0005 | g0152 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19072 | hp1 | a0001 | c0004 | t0004 | g0058 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19072 | hp2 | a0001 | c0001 | t0001 | g0286 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19074 | hp1 | a0001 | c0004 | t0004 | g0065 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19074 | hp2 | a0002 | c0003 | t0001 | g0162 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19077 | hp1 | a0011 | c0023 | t0001 | g0234 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19077 | hp2 | a0001 | c0004 | t0004 | g0062 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19080 | hp1 | a0001 | c0001 | t0009 | g0274 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19080 | hp2 | a0001 | c0004 | t0004 | g0056 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19081 | hp1 | a0002 | c0003 | t0002 | g0148 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19081 | hp2 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19084 | hp1 | a0001 | c0001 | t0001 | g0184 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19084 | hp2 | a0001 | c0004 | t0004 | g0067 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19086 | hp1 | a0001 | c0001 | t0001 | g0237 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19086 | hp2 | a0002 | c0003 | t0006 | g0168 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19087 | hp2 | a0002 | c0003 | t0005 | g0165 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19088 | hp1 | a0001 | c0004 | t0004 | g0105 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19088 | hp2 | a0002 | c0003 | t0005 | g0174 | EAS | JPT | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19240 | hp1 | a0001 | c0005 | t0007 | g0206 | AFR | YRI | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA19240 | hp2 | a0001 | c0004 | t0010 | g0012 | AFR | YRI | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA20129 | hp1 | a0001 | c0002 | t0001 | g0124 | AFR | ASW | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA20129 | hp2 | a0001 | c0002 | t0003 | g0038 | AFR | ASW | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0239 | EUR | TSI | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA20752 | hp2 | a0001 | c0001 | t0002 | g0074 | EUR | TSI | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA20805 | hp1 | a0001 | c0001 | t0002 | g0216 | EUR | TSI | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA20805 | hp2 | a0001 | c0004 | t0004 | g0137 | EUR | TSI | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0095 | SAS | GIH | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0217 | SAS | GIH | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01123 | hp1 | a0001 | c0001 | t0001 | g0099 | AMR | CLM | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG01123 | hp2 | a0001 | c0001 | t0015 | g0276 | AMR | CLM | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02486 | hp1 | a0001 | c0002 | t0008 | g0133 | AFR | ACB | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02486 | hp2 | a0001 | c0002 | t0003 | g0036 | AFR | ACB | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02559 | hp1 | a0001 | c0002 | t0008 | g0285 | AFR | ACB | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0190 | AFR | ACB | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03471 | hp1 | a0001 | c0005 | t0002 | g0202 | AFR | MSL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | MSL | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA20300 | hp1 | a0001 | c0002 | t0002 | g0006 | AFR | USA | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| NA20300 | hp2 | a0001 | c0025 | t0008 | g0203 | AFR | USA | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0233 | REF | REF | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0003 | g0086 | REF | REF | FBN1_chr15_48403313_48650709 | FBN1 | chr15 | 48403313 | 48650709 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr15:48421954
|
A | G | 1 | a0004 | 1 | HG02896.hp2 | missense_variant&splice_region_variant | MODERATE | c.7568T>C | p.Ile2523Thr | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 61/66 | 7884/11609 | 7568/8616 | 2523/2871 | chr15 | 48421954 | ||
| chr15:48422067
|
A | C | 1 | a0005 | 1 | HG02451.hp1 | missense_variant&splice_region_variant | MODERATE | c.7455T>G | p.Asp2485Glu | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 61/66 | 7771/11609 | 7455/8616 | 2485/2871 | chr15 | 48422067 | ||
| chr15:48428356
|
G | C | 1 | a0006 | 1 | HG00408.hp1 | missense_variant | MODERATE | c.6987C>G | p.Asp2329Glu | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 57/66 | 7303/11609 | 6987/8616 | 2329/2871 | chr15 | 48428356 | ||
| chr15:48430710
|
G | A | 1 | a0003 | 2 | HG02257.hp1 HG03540.hp1 |
missense_variant | MODERATE | c.6832C>T | p.Pro2278Ser | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 56/66 | 7148/11609 | 6832/8616 | 2278/2871 | chr15 | 48430710 | ||
| chr15:48441811
|
C | A | 1 | a0007 | 1 | NA18522.hp2 | missense_variant | MODERATE | c.6073G>T | p.Ala2025Ser | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/66 | 6389/11609 | 6073/8616 | 2025/2871 | chr15 | 48441811 | ||
| chr15:48465856
|
C | T | 1 | a0008 | 1 | HG01192.hp1 | missense_variant&splice_region_variant | MODERATE | c.4750G>A | p.Glu1584Lys | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 39/66 | 5066/11609 | 4750/8616 | 1584/2871 | chr15 | 48465856 | ||
| chr15:48487321
|
C | T | 1 | a0009 | 1 | HG02135.hp2 | missense_variant | MODERATE | c.3454G>A | p.Ala1152Thr | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 28/66 | 3770/11609 | 3454/8616 | 1152/2871 | chr15 | 48487321 | ||
| chr15:48487333
|
G | C | 1 | a0002 | 38 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(35): Show |
missense_variant | MODERATE | c.3442C>G | p.Pro1148Ala | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 28/66 | 3758/11609 | 3442/8616 | 1148/2871 | chr15 | 48487333 | ||
| chr15:48489999
|
G | C | 1 | a0010 | 1 | HG03516.hp2 | missense_variant | MODERATE | c.2934C>G | p.Asp978Glu | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 25/66 | 3250/11609 | 2934/8616 | 978/2871 | chr15 | 48489999 | ||
| chr15:48510082
|
G | A | 1 | a0011 | 1 | NA19077.hp1 | missense_variant | MODERATE | c.1676C>T | p.Ala559Val | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 14/66 | 1992/11609 | 1676/8616 | 559/2871 | chr15 | 48510082 | ||
| chr15:48526132
|
A | G | 1 | a0012 | 1 | HG03195.hp2 | missense_variant&splice_region_variant | MODERATE | c.986T>C | p.Ile329Thr | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/66 | 1302/11609 | 986/8616 | 329/2871 | chr15 | 48526132 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr15:48415637
|
A | G | 1 | a0001c0026 | 1 | HG03486.hp1 | synonymous_variant | LOW | c.7950T>C | p.Asn2650Asn | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/66 | 8266/11609 | 7950/8616 | 2650/2871 | chr15 | 48415637 | ||
| chr15:48422025
|
T | C | 1 | a0002c0009 | 2 | HG02809.hp1 HG03098.hp2 |
synonymous_variant | LOW | c.7497A>G | p.Leu2499Leu | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 61/66 | 7813/11609 | 7497/8616 | 2499/2871 | chr15 | 48422025 | ||
| chr15:48428455
|
C | T | 3 | a0001c0004a0001c0012a0001c0024 | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
synonymous_variant | LOW | c.6888G>A | p.Gln2296Gln | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 57/66 | 7204/11609 | 6888/8616 | 2296/2871 | chr15 | 48428455 | ||
| chr15:48430687
|
A | G | 3 | a0001c0004a0001c0012a0001c0024 | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
synonymous_variant | LOW | c.6855T>C | p.Asp2285Asp | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 56/66 | 7171/11609 | 6855/8616 | 2285/2871 | chr15 | 48430687 | ||
| chr15:48430705
|
C | T | 1 | a0001c0015 | 1 | HG02280.hp1 | synonymous_variant | LOW | c.6837G>A | p.Gly2279Gly | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 56/66 | 7153/11609 | 6837/8616 | 2279/2871 | chr15 | 48430705 | ||
| chr15:48437064
|
G | A | 1 | a0001c0007 | 2 | HG02896.hp1 HG02897.hp2 |
synonymous_variant | LOW | c.6393C>T | p.Cys2131Cys | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/66 | 6709/11609 | 6393/8616 | 2131/2871 | chr15 | 48437064 | ||
| chr15:48485411
|
C | T | 1 | a0001c0025 | 1 | NA20300.hp2 | synonymous_variant | LOW | c.3675G>A | p.Pro1225Pro | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 30/66 | 3991/11609 | 3675/8616 | 1225/2871 | chr15 | 48485411 | ||
| chr15:48497270
|
G | A | 1 | a0001c0021 | 1 | HG01257.hp1 | synonymous_variant | LOW | c.2289C>T | p.Cys763Cys | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 19/66 | 2605/11609 | 2289/8616 | 763/2871 | chr15 | 48497270 | ||
| chr15:48499004
|
T | C | 1 | a0001c0022 | 1 | HG02922.hp2 | synonymous_variant | LOW | c.2148A>G | p.Gly716Gly | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 18/66 | 2464/11609 | 2148/8616 | 716/2871 | chr15 | 48499004 | ||
| chr15:48505110
|
A | G | 7 | a0001c0002a0001c0004a0001c0005others(4): Show | 129 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(126): Show |
synonymous_variant | LOW | c.1875T>C | p.Asn625Asn | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 16/66 | 2191/11609 | 1875/8616 | 625/2871 | chr15 | 48505110 | ||
| chr15:48520777
|
C | T | 3 | a0001c0006a0001c0007a0001c0012 | 5 | HG01884.hp2 HG02258.hp1 HG02896.hp1 others(2): Show |
synonymous_variant | LOW | c.1029G>A | p.Gly343Gly | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/66 | 1345/11609 | 1029/8616 | 343/2871 | chr15 | 48520777 | ||
| chr15:48644614
|
C | A | 6 | a0001c0005a0001c0010a0001c0024others(3): Show | 21 | HG02572.hp1 HG02615.hp1 HG02622.hp2 others(18): Show |
synonymous_variant | LOW | c.156G>T | p.Ala52Ala | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/66 | 472/11609 | 156/8616 | 52/2871 | chr15 | 48644614 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr15:48408316
|
A | T | 3 | a0001c0005t0013a0001c0006t0013a0001c0022t0013 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2674T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 2674 | chr15 | 48408316 | |||||
| chr15:48408466
|
T | C | 1 | a0001c0001t0009 | 6 | HG01928.hp1 HG01978.hp2 HG02080.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*2524A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 2524 | chr15 | 48408466 | |||||
| chr15:48408630
|
G | C | 1 | a0001c0004t0022 | 1 | NA18954.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2360C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 2360 | chr15 | 48408630 | |||||
| chr15:48408832
|
C | T | 40 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(37): Show | 211 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(208): Show |
3_prime_UTR_variant | MODIFIER | c.*2158G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 2158 | chr15 | 48408832 | |||||
| chr15:48408837
|
T | C | 2 | a0001c0001t0012a0007c0019t0012 | 3 | HG01167.hp1 NA18522.hp2 NA19043.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2153A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 2153 | chr15 | 48408837 | |||||
| chr15:48408950
|
A | G | 10 | a0001c0001t0010a0001c0001t0012a0001c0002t0004others(7): Show | 38 | HG00408.hp2 HG00544.hp1 HG01167.hp1 others(35): Show |
3_prime_UTR_variant | MODIFIER | c.*2040T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 2040 | chr15 | 48408950 | |||||
| chr15:48408975
|
T | C | 1 | a0001c0001t0025 | 1 | HG01258.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2015A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 2015 | chr15 | 48408975 | |||||
| chr15:48408993
|
G | A | 1 | a0001c0004t0016 | 1 | HG00544.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1997C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 1997 | chr15 | 48408993 | |||||
| chr15:48409031
|
C | T | 5 | a0001c0001t0005a0001c0002t0018a0002c0003t0005others(2): Show | 37 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(34): Show |
3_prime_UTR_variant | MODIFIER | c.*1959G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 1959 | chr15 | 48409031 | |||||
| chr15:48409213
|
G | A | 1 | a0001c0026t0021 | 1 | HG03486.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1777C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 1777 | chr15 | 48409213 | |||||
| chr15:48409371
|
A | T | 1 | a0001c0001t0024 | 1 | NA18747.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1619T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 1619 | chr15 | 48409371 | |||||
| chr15:48409410
|
C | T | 1 | a0001c0002t0017 | 1 | HG00642.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1580G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 1580 | chr15 | 48409410 | |||||
| chr15:48409415
|
A | C | 32 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(29): Show | 164 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(161): Show |
3_prime_UTR_variant | MODIFIER | c.*1575T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 1575 | chr15 | 48409415 | |||||
| chr15:48409428
|
C | A | 11 | a0001c0001t0010a0001c0001t0012a0001c0002t0004others(8): Show | 39 | HG00408.hp2 HG00544.hp1 HG01167.hp1 others(36): Show |
3_prime_UTR_variant | MODIFIER | c.*1562G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 1562 | chr15 | 48409428 | |||||
| chr15:48409553
|
C | T | 1 | a0001c0002t0018 | 1 | HG03239.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1437G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 1437 | chr15 | 48409553 | |||||
| chr15:48409622
|
T | C | 4 | a0001c0002t0004a0001c0004t0004a0001c0004t0016others(1): Show | 30 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(27): Show |
3_prime_UTR_variant | MODIFIER | c.*1368A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 1368 | chr15 | 48409622 | |||||
| chr15:48409906
|
A | G | 1 | a0002c0003t0006 | 13 | HG01346.hp2 HG02027.hp2 HG02080.hp2 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*1084T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 1084 | chr15 | 48409906 | |||||
| chr15:48410123
|
C | A | 1 | a0001c0001t0026 | 1 | HG03490.hp1 | 3_prime_UTR_variant | MODIFIER | c.*867G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 867 | chr15 | 48410123 | |||||
| chr15:48410260
|
C | A | 54 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(51): Show | 257 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(254): Show |
3_prime_UTR_variant | MODIFIER | c.*730G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 730 | chr15 | 48410260 | |||||
| chr15:48410604
|
C | G | 1 | a0001c0004t0016 | 1 | HG00544.hp1 | 3_prime_UTR_variant | MODIFIER | c.*386G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 386 | chr15 | 48410604 | |||||
| chr15:48410676
|
G | A | 23 | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(20): Show | 129 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(126): Show |
3_prime_UTR_variant | MODIFIER | c.*314C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 314 | chr15 | 48410676 | |||||
| chr15:48410767
|
A | C | 2 | a0001c0005t0014a0001c0006t0014 | 2 | HG02258.hp1 HG02615.hp1 |
3_prime_UTR_variant | MODIFIER | c.*223T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 223 | chr15 | 48410767 | |||||
| chr15:48410933
|
T | C | 2 | a0001c0002t0007a0001c0005t0007 | 7 | HG01255.hp1 HG02622.hp2 HG02723.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*57A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 66/66 | 57 | chr15 | 48410933 | |||||
| chr15:48644945
|
T | A | 1 | a0012c0011t0027 | 1 | HG03195.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-176A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/66 | chr15 | 48644945 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr15:48411479
|
T | G | 5 | a0001c0001t0001g0132a0001c0001t0001g0178a0001c0001t0001g0180others(2): Show | 5 | NA18960.hp1 NA18965.hp1 NA18968.hp2 others(2): Show |
intron_variant | MODIFIER | c.8227-100A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 65/65 | chr15 | 48411479 | ||||||
| chr15:48411482
|
G | A | 3 | a0001c0004t0010g0012a0001c0012t0010g0016a0001c0024t0010g0195 | 3 | HG01884.hp2 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.8227-103C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 65/65 | chr15 | 48411482 | ||||||
| chr15:48411626
|
A | G | 258 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(255): Show | 258 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(255): Show |
intron_variant | MODIFIER | c.8227-247T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 65/65 | chr15 | 48411626 | ||||||
| chr15:48411805
|
A | G | 3 | a0001c0004t0010g0012a0001c0012t0010g0016a0001c0024t0010g0195 | 3 | HG01884.hp2 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.8227-426T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 65/65 | chr15 | 48411805 | ||||||
| chr15:48411882
|
G | C | 1 | a0001c0001t0019g0246 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.8227-503C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 65/65 | chr15 | 48411882 | ||||||
| chr15:48411924
|
T | C | 1 | a0001c0022t0013g0010 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.8227-545A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 65/65 | chr15 | 48411924 | ||||||
| chr15:48412045
|
C | T | 9 | a0001c0001t0001g0132a0001c0001t0001g0178a0001c0001t0001g0180others(6): Show | 9 | HG00408.hp1 HG00597.hp2 NA18960.hp1 others(6): Show |
intron_variant | MODIFIER | c.8226+524G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 65/65 | chr15 | 48412045 | ||||||
| chr15:48412223
|
C | T | 1 | a0001c0001t0001g0188 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.8226+346G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 65/65 | chr15 | 48412223 | ||||||
| chr15:48412782
|
T | C | 1 | a0001c0002t0023g0034 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.8052-39A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48412782 | ||||||
| chr15:48412932
|
A | G | 2 | a0001c0001t0008g0121a0001c0025t0008g0203 | 2 | HG02622.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.8052-189T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48412932 | ||||||
| chr15:48413009
|
T | C | 132 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(129): Show | 132 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(129): Show |
intron_variant | MODIFIER | c.8052-266A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48413009 | ||||||
| chr15:48413075
|
G | A | 5 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0004t0010g0012others(2): Show | 5 | HG01884.hp1 HG01884.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.8052-332C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48413075 | ||||||
| chr15:48413302
|
AG | A | 33 | a0001c0001t0001g0088a0001c0001t0001g0092a0001c0001t0001g0093others(30): Show | 33 | HG00621.hp2 HG00673.hp2 HG01123.hp2 others(30): Show |
intron_variant | MODIFIER | c.8052-560delC | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48413302 | ||||||
| chr15:48413336
|
G | A | 2 | a0003c0008t0005g0015a0003c0008t0005g0122 | 2 | HG02257.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.8052-593C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48413336 | ||||||
| chr15:48413449
|
T | A | 3 | a0001c0004t0010g0012a0001c0012t0010g0016a0001c0024t0010g0195 | 3 | HG01884.hp2 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.8052-706A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48413449 | ||||||
| chr15:48413458
|
G | A | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.8052-715C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48413458 | ||||||
| chr15:48413893
|
C | G | 3 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135 | 3 | HG02451.hp2 HG02486.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.8052-1150G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48413893 | ||||||
| chr15:48413904
|
T | C | 5 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0004t0010g0012others(2): Show | 5 | HG01884.hp1 HG01884.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.8052-1161A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48413904 | ||||||
| chr15:48413913
|
T | C | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.8052-1170A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48413913 | ||||||
| chr15:48414256
|
T | C | 35 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0004t0004g0017others(32): Show | 35 | HG00408.hp2 HG00544.hp1 HG01884.hp1 others(32): Show |
intron_variant | MODIFIER | c.8051+1280A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48414256 | ||||||
| chr15:48414257
|
G | C | 1 | a0001c0001t0001g0229 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.8051+1279C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48414257 | ||||||
| chr15:48414374
|
A | G | 132 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(129): Show | 132 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(129): Show |
intron_variant | MODIFIER | c.8051+1162T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48414374 | ||||||
| chr15:48414496
|
A | G | 35 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0004t0004g0017others(32): Show | 35 | HG00408.hp2 HG00544.hp1 HG01884.hp1 others(32): Show |
intron_variant | MODIFIER | c.8051+1040T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48414496 | ||||||
| chr15:48414574
|
A | C | 37 | a0001c0001t0005g0141a0001c0001t0005g0221a0001c0001t0005g0223others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(34): Show |
intron_variant | MODIFIER | c.8051+962T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48414574 | ||||||
| chr15:48414618
|
C | T | 1 | a0002c0003t0005g0175 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.8051+918G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48414618 | ||||||
| chr15:48414622
|
T | C | 1 | a0001c0001t0001g0107 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.8051+914A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48414622 | ||||||
| chr15:48414623
|
A | G | 1 | a0001c0001t0001g0107 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.8051+913T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48414623 | ||||||
| chr15:48414625
|
A | G | 1 | a0001c0001t0001g0107 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.8051+911T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48414625 | ||||||
| chr15:48414641
|
A | C | 1 | a0001c0002t0003g0042 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.8051+895T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48414641 | ||||||
| chr15:48414678
|
C | A | 4 | a0001c0001t0002g0091a0001c0007t0002g0013a0001c0007t0002g0014others(1): Show | 4 | HG02258.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.8051+858G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48414678 | ||||||
| chr15:48414712
|
C | T | 5 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0004t0010g0012others(2): Show | 5 | HG01884.hp1 HG01884.hp2 HG02818.hp1 others(2): Show |
intron_variant | MODIFIER | c.8051+824G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48414712 | ||||||
| chr15:48414724
|
G | A | 1 | a0001c0004t0004g0064 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.8051+812C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48414724 | ||||||
| chr15:48414863
|
T | G | 1 | a0001c0004t0004g0083 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.8051+673A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48414863 | ||||||
| chr15:48414874
|
C | T | 4 | a0001c0004t0010g0012a0001c0004t0016g0050a0001c0012t0010g0016others(1): Show | 4 | HG00544.hp1 HG01884.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.8051+662G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48414874 | ||||||
| chr15:48414875
|
G | A | 1 | a0001c0001t0009g0274 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.8051+661C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48414875 | ||||||
| chr15:48414894
|
TA | T | 221 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(218): Show | 221 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(218): Show |
intron_variant | MODIFIER | c.8051+641delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48414894 | ||||||
| chr15:48414894
|
TAA | T | 35 | a0001c0001t0002g0072a0001c0001t0010g0225a0001c0001t0024g0112others(32): Show | 35 | HG00408.hp2 HG00544.hp1 HG01517.hp2 others(32): Show |
intron_variant | MODIFIER | c.8051+640_8051+641d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48414894 | ||||||
| chr15:48414961
|
T | C | 2 | a0001c0007t0002g0013a0001c0007t0002g0014 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.8051+575A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48414961 | ||||||
| chr15:48415088
|
A | T | 1 | a0001c0001t0001g0188 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.8051+448T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48415088 | ||||||
| chr15:48415384
|
C | A | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.8051+152G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 64/65 | chr15 | 48415384 | ||||||
| chr15:48415790
|
C | T | 4 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135others(1): Show | 4 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.7820-23G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48415790 | ||||||
| chr15:48415829
|
G | A | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.7820-62C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48415829 | ||||||
| chr15:48415933
|
C | T | 1 | a0002c0003t0005g0170 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.7820-166G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48415933 | ||||||
| chr15:48416105
|
C | T | 1 | a0001c0001t0001g0263 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.7820-338G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48416105 | ||||||
| chr15:48416148
|
G | A | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.7820-381C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48416148 | ||||||
| chr15:48416149
|
G | T | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.7820-382C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48416149 | ||||||
| chr15:48416186
|
C | T | 3 | a0001c0001t0002g0071a0001c0001t0002g0074a0001c0001t0002g0077 | 3 | HG00642.hp2 HG02293.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.7820-419G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48416186 | ||||||
| chr15:48416203
|
T | G | 36 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(33): Show | 36 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(33): Show |
intron_variant | MODIFIER | c.7820-436A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48416203 | ||||||
| chr15:48416321
|
A | AGTGTCTG others(6): Show |
1 | a0001c0001t0001g0182 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.7820-567_7820-555d others(15): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48416321 | ||||||
| chr15:48416525
|
T | G | 1 | a0001c0001t0002g0072 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.7820-758A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48416525 | ||||||
| chr15:48416526
|
G | T | 1 | a0001c0001t0002g0072 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.7820-759C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48416526 | ||||||
| chr15:48416527
|
C | G | 1 | a0001c0001t0002g0072 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.7820-760G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48416527 | ||||||
| chr15:48416851
|
G | A | 4 | a0001c0001t0005g0136a0001c0001t0005g0280a0003c0008t0005g0015others(1): Show | 4 | HG02257.hp1 HG02572.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.7820-1084C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48416851 | ||||||
| chr15:48416941
|
C | CCATT | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7820-1178_7820-117 others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48416941 | ||||||
| chr15:48417044
|
C | T | 1 | a0001c0004t0004g0059 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.7820-1277G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417044 | ||||||
| chr15:48417095
|
C | T | 33 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(30): Show | 33 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(30): Show |
intron_variant | MODIFIER | c.7820-1328G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417095 | ||||||
| chr15:48417097
|
A | T | 1 | a0002c0003t0001g0162 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.7820-1330T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417097 | ||||||
| chr15:48417104
|
C | T | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7820-1337G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417104 | ||||||
| chr15:48417172
|
G | GT | 35 | a0001c0001t0001g0088a0001c0001t0001g0092a0001c0001t0001g0093others(32): Show | 35 | HG00621.hp2 HG00673.hp2 HG01123.hp2 others(32): Show |
intron_variant | MODIFIER | c.7820-1406dupA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417172 | ||||||
| chr15:48417335
|
ACCTG | A | 9 | a0001c0001t0002g0214a0001c0002t0007g0021a0001c0002t0007g0127others(6): Show | 9 | HG01255.hp1 HG02622.hp2 HG02723.hp2 others(6): Show |
intron_variant | MODIFIER | c.7820-1572_7820-156 others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417335 | ||||||
| chr15:48417380
|
C | A | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.7820-1613G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417380 | ||||||
| chr15:48417423
|
T | TTCCC | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7820-1660_7820-165 others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417423 | ||||||
| chr15:48417428
|
C | T | 3 | a0001c0004t0010g0012a0001c0012t0010g0016a0001c0024t0010g0195 | 3 | HG01884.hp2 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.7820-1661G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417428 | ||||||
| chr15:48417448
|
T | TTTCC | 49 | a0001c0001t0001g0191a0001c0001t0002g0003a0001c0001t0002g0072others(46): Show | 49 | HG00642.hp2 HG01167.hp1 HG01361.hp1 others(46): Show |
intron_variant | MODIFIER | c.7820-1685_7820-168 others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417448 | ||||||
| chr15:48417448
|
T | TTTCCTTC others(1): Show |
26 | a0001c0001t0001g0019a0001c0001t0001g0217a0001c0001t0001g0279others(23): Show | 26 | HG01346.hp2 HG01981.hp2 HG02027.hp2 others(23): Show |
intron_variant | MODIFIER | c.7820-1689_7820-168 others(12): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417448 | ||||||
| chr15:48417448
|
T | TTTCCTTC others(5): Show |
82 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0096others(79): Show | 82 | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.7820-1693_7820-168 others(16): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417448 | ||||||
| chr15:48417448
|
T | TTTCCTTC others(9): Show |
63 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0090others(60): Show | 63 | HG00408.hp1 HG00597.hp2 HG00621.hp2 others(60): Show |
intron_variant | MODIFIER | c.7820-1697_7820-168 others(20): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417448 | ||||||
| chr15:48417448
|
T | TTTCCTTC others(13): Show |
3 | a0001c0001t0001g0108a0001c0006t0013g0215a0001c0015t0001g0219 | 3 | HG02280.hp1 HG03209.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.7820-1701_7820-168 others(24): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417448 | ||||||
| chr15:48417448
|
T | TTTCCTTC others(17): Show |
1 | a0001c0001t0001g0182 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.7820-1682_7820-168 others(28): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417448 | ||||||
| chr15:48417469
|
T | TTCC | 3 | a0001c0004t0010g0012a0001c0012t0010g0016a0001c0024t0010g0195 | 3 | HG01884.hp2 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.7820-1703_7820-170 others(7): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417469 | ||||||
| chr15:48417469
|
T | TTCCTTCC others(4): Show |
1 | a0001c0001t0001g0100 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.7820-1703_7820-170 others(15): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417469 | ||||||
| chr15:48417469
|
T | TTCCTTCC others(8): Show |
2 | a0001c0004t0004g0068a0001c0004t0004g0069 | 2 | HG03654.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.7820-1703_7820-170 others(19): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417469 | ||||||
| chr15:48417469
|
T | TTCCTTCC others(12): Show |
20 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0052others(17): Show | 20 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(17): Show |
intron_variant | MODIFIER | c.7820-1703_7820-170 others(23): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417469 | ||||||
| chr15:48417469
|
T | TTCCTTCC others(16): Show |
5 | a0001c0004t0004g0049a0001c0004t0004g0059a0001c0004t0004g0060others(2): Show | 5 | NA18963.hp2 NA18975.hp1 NA18982.hp2 others(2): Show |
intron_variant | MODIFIER | c.7820-1703_7820-170 others(27): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417469 | ||||||
| chr15:48417469
|
T | TTCCTTCC others(20): Show |
1 | a0001c0004t0004g0067 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.7820-1703_7820-170 others(31): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417469 | ||||||
| chr15:48417469
|
T | TTCCTTCC others(24): Show |
1 | a0001c0004t0004g0083 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.7820-1703_7820-170 others(35): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417469 | ||||||
| chr15:48417473
|
C | CT | 33 | a0001c0001t0001g0100a0001c0004t0004g0017a0001c0004t0004g0048others(30): Show | 33 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(30): Show |
intron_variant | MODIFIER | c.7820-1707dupA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417473 | ||||||
| chr15:48417537
|
G | A | 2 | a0001c0001t0001g0245a0001c0001t0001g0252 | 2 | HG02735.hp2 HG03688.hp1 |
intron_variant | MODIFIER | c.7820-1770C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417537 | ||||||
| chr15:48417614
|
C | T | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7820-1847G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417614 | ||||||
| chr15:48417894
|
G | A | 1 | a0001c0004t0004g0137 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.7820-2127C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48417894 | ||||||
| chr15:48418002
|
G | A | 1 | a0001c0002t0003g0029 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.7820-2235C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48418002 | ||||||
| chr15:48418013
|
G | C | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7820-2246C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48418013 | ||||||
| chr15:48418015
|
G | T | 1 | a0002c0003t0005g0170 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.7820-2248C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48418015 | ||||||
| chr15:48418205
|
G | A | 33 | a0001c0001t0001g0088a0001c0001t0001g0092a0001c0001t0001g0093others(30): Show | 33 | HG00621.hp2 HG00673.hp2 HG01123.hp2 others(30): Show |
intron_variant | MODIFIER | c.7820-2438C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48418205 | ||||||
| chr15:48418271
|
A | G | 257 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(254): Show | 257 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(254): Show |
intron_variant | MODIFIER | c.7819+2416T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48418271 | ||||||
| chr15:48418354
|
T | C | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.7819+2333A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48418354 | ||||||
| chr15:48418390
|
CT | C | 4 | a0001c0001t0002g0091a0001c0007t0002g0013a0001c0007t0002g0014others(1): Show | 4 | HG02258.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.7819+2296delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48418390 | ||||||
| chr15:48418564
|
G | T | 4 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135others(1): Show | 4 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.7819+2123C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48418564 | ||||||
| chr15:48418694
|
G | T | 9 | a0002c0003t0006g0153a0002c0003t0006g0158a0002c0003t0006g0160others(6): Show | 9 | HG01346.hp2 HG02027.hp2 HG02080.hp2 others(6): Show |
intron_variant | MODIFIER | c.7819+1993C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48418694 | ||||||
| chr15:48418853
|
A | G | 3 | a0001c0004t0010g0012a0001c0012t0010g0016a0001c0024t0010g0195 | 3 | HG01884.hp2 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.7819+1834T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48418853 | ||||||
| chr15:48418942
|
C | T | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.7819+1745G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48418942 | ||||||
| chr15:48418984
|
A | G | 1 | a0001c0001t0001g0233 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.7819+1703T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48418984 | ||||||
| chr15:48419066
|
T | C | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.7819+1621A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48419066 | ||||||
| chr15:48419187
|
A | T | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7819+1500T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48419187 | ||||||
| chr15:48419333
|
T | G | 1 | a0001c0001t0001g0099 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.7819+1354A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48419333 | ||||||
| chr15:48419413
|
G | T | 2 | a0001c0001t0005g0136a0001c0001t0005g0280 | 2 | HG02572.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.7819+1274C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48419413 | ||||||
| chr15:48419515
|
T | C | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7819+1172A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48419515 | ||||||
| chr15:48419607
|
C | T | 1 | a0001c0004t0016g0050 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.7819+1080G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48419607 | ||||||
| chr15:48420079
|
G | A | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.7819+608C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48420079 | ||||||
| chr15:48420141
|
TGAGA | T | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7819+542_7819+545d others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48420141 | ||||||
| chr15:48420192
|
A | G | 2 | a0003c0008t0005g0015a0003c0008t0005g0122 | 2 | HG02257.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.7819+495T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48420192 | ||||||
| chr15:48420202
|
C | T | 4 | a0001c0002t0003g0025a0001c0002t0003g0035a0001c0002t0003g0036others(1): Show | 4 | HG00741.hp2 HG01175.hp2 HG01978.hp1 others(1): Show |
intron_variant | MODIFIER | c.7819+485G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48420202 | ||||||
| chr15:48420212
|
C | CA | 217 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(214): Show | 217 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(214): Show |
intron_variant | MODIFIER | c.7819+474dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48420212 | ||||||
| chr15:48420335
|
C | T | 1 | a0001c0001t0001g0131 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.7819+352G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48420335 | ||||||
| chr15:48420343
|
T | C | 2 | a0001c0001t0005g0136a0001c0001t0005g0280 | 2 | HG02572.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.7819+344A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48420343 | ||||||
| chr15:48420502
|
AT | A | 88 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(85): Show | 88 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(85): Show |
intron_variant | MODIFIER | c.7819+184delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48420502 | ||||||
| chr15:48420545
|
C | T | 3 | a0001c0004t0010g0012a0001c0012t0010g0016a0001c0024t0010g0195 | 3 | HG01884.hp2 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.7819+142G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48420545 | ||||||
| chr15:48420547
|
C | T | 3 | a0001c0004t0010g0012a0001c0012t0010g0016a0001c0024t0010g0195 | 3 | HG01884.hp2 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.7819+140G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48420547 | ||||||
| chr15:48420560
|
G | T | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7819+127C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48420560 | ||||||
| chr15:48420679
|
T | G | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
splice_region_variant&intron_variant | LOW | c.7819+8A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | 48420679 | ||||||
| chr15:48420849
|
C | G | 4 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135others(1): Show | 4 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.7700-43G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 62/65 | chr15 | 48420849 | ||||||
| chr15:48421082
|
C | CT | 23 | a0001c0001t0002g0071a0001c0001t0002g0072a0001c0001t0002g0073others(20): Show | 23 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(20): Show |
intron_variant | MODIFIER | c.7700-277dupA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 62/65 | chr15 | 48421082 | ||||||
| chr15:48421082
|
CT | C | 33 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0092others(30): Show | 33 | HG00621.hp2 HG00673.hp2 HG01123.hp2 others(30): Show |
intron_variant | MODIFIER | c.7700-277delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 62/65 | chr15 | 48421082 | ||||||
| chr15:48421095
|
A | T | 1 | a0001c0001t0001g0132 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.7700-289T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 62/65 | chr15 | 48421095 | ||||||
| chr15:48421155
|
A | T | 1 | a0001c0001t0001g0132 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.7700-349T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 62/65 | chr15 | 48421155 | ||||||
| chr15:48421261
|
A | C | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.7699+297T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 62/65 | chr15 | 48421261 | ||||||
| chr15:48421452
|
C | T | 2 | a0001c0001t0002g0003a0004c0017t0002g0023 | 2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.7699+106G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 62/65 | chr15 | 48421452 | ||||||
| chr15:48421475
|
G | T | 1 | a0001c0004t0004g0059 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.7699+83C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 62/65 | chr15 | 48421475 | ||||||
| chr15:48421537
|
G | A | 2 | a0002c0009t0001g0211a0002c0009t0001g0212 | 2 | HG02809.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.7699+21C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 62/65 | chr15 | 48421537 | ||||||
| chr15:48421762
|
A | T | 8 | a0001c0001t0002g0214a0001c0002t0007g0021a0001c0002t0007g0127others(5): Show | 8 | HG01255.hp1 HG02622.hp2 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.7571-76T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 61/65 | chr15 | 48421762 | ||||||
| chr15:48421799
|
G | T | 256 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(253): Show | 256 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(253): Show |
intron_variant | MODIFIER | c.7571-113C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 61/65 | chr15 | 48421799 | ||||||
| chr15:48422158
|
T | C | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.7454-90A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48422158 | ||||||
| chr15:48422369
|
T | C | 2 | a0001c0001t0001g0235a0001c0001t0001g0249 | 2 | NA18944.hp1 NA18971.hp2 |
intron_variant | MODIFIER | c.7454-301A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48422369 | ||||||
| chr15:48422398
|
C | T | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7454-330G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48422398 | ||||||
| chr15:48422543
|
A | G | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7454-475T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48422543 | ||||||
| chr15:48422641
|
T | G | 123 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(120): Show | 123 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(120): Show |
intron_variant | MODIFIER | c.7454-573A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48422641 | ||||||
| chr15:48422751
|
C | G | 257 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(254): Show | 257 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(254): Show |
intron_variant | MODIFIER | c.7454-683G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48422751 | ||||||
| chr15:48422830
|
G | T | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.7454-762C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48422830 | ||||||
| chr15:48422889
|
T | C | 1 | a0001c0001t0001g0019 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.7454-821A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48422889 | ||||||
| chr15:48422956
|
C | T | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.7454-888G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48422956 | ||||||
| chr15:48422963
|
C | CA | 6 | a0001c0001t0001g0089a0001c0001t0002g0087a0001c0002t0008g0133others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.7454-896dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48422963 | ||||||
| chr15:48423040
|
C | G | 37 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(34): Show | 37 | HG00642.hp2 HG01167.hp1 HG01361.hp1 others(34): Show |
intron_variant | MODIFIER | c.7454-972G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48423040 | ||||||
| chr15:48423251
|
A | G | 123 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(120): Show | 123 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(120): Show |
intron_variant | MODIFIER | c.7454-1183T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48423251 | ||||||
| chr15:48423385
|
C | T | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7454-1317G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48423385 | ||||||
| chr15:48423403
|
T | A | 257 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(254): Show | 257 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(254): Show |
intron_variant | MODIFIER | c.7454-1335A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48423403 | ||||||
| chr15:48423610
|
A | T | 2 | a0001c0001t0001g0236a0001c0001t0001g0263 | 2 | NA19005.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.7454-1542T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48423610 | ||||||
| chr15:48423733
|
T | C | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7453+1636A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48423733 | ||||||
| chr15:48423764
|
T | A | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.7453+1605A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48423764 | ||||||
| chr15:48423773
|
T | G | 32 | a0001c0001t0005g0221a0001c0001t0005g0223a0001c0002t0018g0253others(29): Show | 32 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(29): Show |
intron_variant | MODIFIER | c.7453+1596A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48423773 | ||||||
| chr15:48423932
|
T | G | 1 | a0001c0002t0003g0039 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.7453+1437A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48423932 | ||||||
| chr15:48424060
|
G | T | 3 | a0001c0004t0010g0012a0001c0012t0010g0016a0001c0024t0010g0195 | 3 | HG01884.hp2 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.7453+1309C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48424060 | ||||||
| chr15:48424202
|
G | A | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7453+1167C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48424202 | ||||||
| chr15:48424253
|
C | T | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7453+1116G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48424253 | ||||||
| chr15:48424282
|
C | G | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7453+1087G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48424282 | ||||||
| chr15:48424414
|
C | T | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7453+955G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48424414 | ||||||
| chr15:48424544
|
A | G | 1 | a0001c0001t0001g0019 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.7453+825T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48424544 | ||||||
| chr15:48424568
|
CT | C | 33 | a0001c0001t0005g0141a0001c0001t0005g0221a0001c0001t0005g0223others(30): Show | 33 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(30): Show |
intron_variant | MODIFIER | c.7453+800delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48424568 | ||||||
| chr15:48424630
|
G | C | 2 | a0001c0001t0001g0103a0001c0001t0001g0106 | 2 | NA18969.hp1 NA18990.hp2 |
intron_variant | MODIFIER | c.7453+739C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48424630 | ||||||
| chr15:48424656
|
T | C | 38 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(35): Show | 38 | HG00642.hp2 HG01167.hp1 HG01361.hp1 others(35): Show |
intron_variant | MODIFIER | c.7453+713A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48424656 | ||||||
| chr15:48424964
|
G | A | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.7453+405C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48424964 | ||||||
| chr15:48425096
|
A | AG | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7453+272_7453+273i others(3): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48425096 | ||||||
| chr15:48425177
|
C | G | 1 | a0001c0002t0017g0040 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.7453+192G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48425177 | ||||||
| chr15:48425204
|
C | T | 1 | a0001c0002t0003g0037 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.7453+165G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48425204 | ||||||
| chr15:48425205
|
T | C | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7453+164A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 60/65 | chr15 | 48425205 | ||||||
| chr15:48425901
|
T | C | 1 | a0001c0001t0002g0216 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.7205-37A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 58/65 | chr15 | 48425901 | ||||||
| chr15:48425923
|
T | C | 1 | a0001c0001t0002g0216 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.7205-59A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 58/65 | chr15 | 48425923 | ||||||
| chr15:48426041
|
T | C | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7205-177A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 58/65 | chr15 | 48426041 | ||||||
| chr15:48426065
|
C | T | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7205-201G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 58/65 | chr15 | 48426065 | ||||||
| chr15:48426087
|
A | G | 3 | a0001c0004t0010g0012a0001c0012t0010g0016a0001c0024t0010g0195 | 3 | HG01884.hp2 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.7205-223T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 58/65 | chr15 | 48426087 | ||||||
| chr15:48426106
|
A | T | 1 | a0001c0001t0001g0177 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.7205-242T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 58/65 | chr15 | 48426106 | ||||||
| chr15:48426110
|
G | C | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.7205-246C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 58/65 | chr15 | 48426110 | ||||||
| chr15:48426141
|
A | G | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7205-277T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 58/65 | chr15 | 48426141 | ||||||
| chr15:48426279
|
CT | C | 3 | a0001c0001t0002g0091a0001c0007t0002g0013a0001c0007t0002g0014 | 3 | HG02258.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.7205-416delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 58/65 | chr15 | 48426279 | ||||||
| chr15:48426492
|
C | T | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7205-628G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 58/65 | chr15 | 48426492 | ||||||
| chr15:48426669
|
C | T | 3 | a0001c0004t0010g0012a0001c0012t0010g0016a0001c0024t0010g0195 | 3 | HG01884.hp2 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.7205-805G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 58/65 | chr15 | 48426669 | ||||||
| chr15:48426709
|
G | T | 4 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135others(1): Show | 4 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.7205-845C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 58/65 | chr15 | 48426709 | ||||||
| chr15:48426827
|
T | C | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.7204+740A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 58/65 | chr15 | 48426827 | ||||||
| chr15:48426842
|
T | A | 5 | a0001c0004t0004g0053a0001c0004t0004g0058a0001c0004t0004g0059others(2): Show | 5 | NA18960.hp2 NA18982.hp2 NA19005.hp1 others(2): Show |
intron_variant | MODIFIER | c.7204+725A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 58/65 | chr15 | 48426842 | ||||||
| chr15:48427036
|
T | C | 2 | a0001c0001t0010g0018a0001c0001t0010g0225 | 2 | HG01884.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.7204+531A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 58/65 | chr15 | 48427036 | ||||||
| chr15:48427186
|
G | A | 1 | a0001c0004t0016g0050 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.7204+381C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 58/65 | chr15 | 48427186 | ||||||
| chr15:48427238
|
A | G | 1 | a0001c0001t0001g0094 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.7204+329T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 58/65 | chr15 | 48427238 | ||||||
| chr15:48427428
|
T | C | 1 | a0001c0001t0001g0263 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.7204+139A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 58/65 | chr15 | 48427428 | ||||||
| chr15:48427504
|
G | T | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.7204+63C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 58/65 | chr15 | 48427504 | ||||||
| chr15:48428069
|
A | G | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.6997+277T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 57/65 | chr15 | 48428069 | ||||||
| chr15:48428074
|
C | T | 215 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(212): Show | 215 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(212): Show |
intron_variant | MODIFIER | c.6997+272G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 57/65 | chr15 | 48428074 | ||||||
| chr15:48428329
|
G | C | 160 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(157): Show | 160 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(157): Show |
intron_variant | MODIFIER | c.6997+17C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 57/65 | chr15 | 48428329 | ||||||
| chr15:48428689
|
G | A | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.6872-218C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 56/65 | chr15 | 48428689 | ||||||
| chr15:48428714
|
A | G | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.6872-243T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 56/65 | chr15 | 48428714 | ||||||
| chr15:48428816
|
T | C | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.6872-345A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 56/65 | chr15 | 48428816 | ||||||
| chr15:48428875
|
T | C | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.6872-404A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 56/65 | chr15 | 48428875 | ||||||
| chr15:48429055
|
C | A | 4 | a0001c0001t0002g0091a0001c0007t0002g0013a0001c0007t0002g0014others(1): Show | 4 | HG02258.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.6872-584G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 56/65 | chr15 | 48429055 | ||||||
| chr15:48429079
|
CAT | C | 10 | a0001c0001t0001g0176a0001c0001t0001g0177a0001c0001t0001g0188others(7): Show | 10 | HG01167.hp2 HG02559.hp2 HG02602.hp1 others(7): Show |
intron_variant | MODIFIER | c.6872-610_6872-609d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 56/65 | chr15 | 48429079 | ||||||
| chr15:48429089
|
A | T | 1 | a0001c0001t0001g0266 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.6872-618T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 56/65 | chr15 | 48429089 | ||||||
| chr15:48429125
|
A | T | 3 | a0001c0004t0010g0012a0001c0012t0010g0016a0001c0024t0010g0195 | 3 | HG01884.hp2 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.6872-654T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 56/65 | chr15 | 48429125 | ||||||
| chr15:48429415
|
A | G | 3 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135 | 3 | HG02451.hp2 HG02486.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.6872-944T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 56/65 | chr15 | 48429415 | ||||||
| chr15:48429527
|
G | C | 4 | a0001c0001t0005g0136a0001c0001t0005g0280a0003c0008t0005g0015others(1): Show | 4 | HG02257.hp1 HG02572.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.6872-1056C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 56/65 | chr15 | 48429527 | ||||||
| chr15:48430105
|
T | A | 7 | a0001c0002t0007g0021a0001c0002t0007g0127a0001c0005t0007g0197others(4): Show | 7 | HG01255.hp1 HG02622.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.6871+566A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 56/65 | chr15 | 48430105 | ||||||
| chr15:48430515
|
G | A | 1 | a0001c0004t0004g0287 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.6871+156C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 56/65 | chr15 | 48430515 | ||||||
| chr15:48430550
|
C | A | 1 | a0001c0002t0001g0020 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.6871+121G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 56/65 | chr15 | 48430550 | ||||||
| chr15:48430989
|
T | C | 3 | a0001c0004t0010g0012a0001c0012t0010g0016a0001c0024t0010g0195 | 3 | HG01884.hp2 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.6740-187A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 55/65 | chr15 | 48430989 | ||||||
| chr15:48431171
|
C | G | 1 | a0001c0004t0004g0069 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.6740-369G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 55/65 | chr15 | 48431171 | ||||||
| chr15:48431190
|
C | T | 1 | a0001c0001t0001g0107 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.6740-388G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 55/65 | chr15 | 48431190 | ||||||
| chr15:48431234
|
A | G | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.6740-432T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 55/65 | chr15 | 48431234 | ||||||
| chr15:48431312
|
T | G | 257 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(254): Show | 257 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(254): Show |
intron_variant | MODIFIER | c.6740-510A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 55/65 | chr15 | 48431312 | ||||||
| chr15:48431340
|
A | G | 3 | a0001c0004t0010g0012a0001c0012t0010g0016a0001c0024t0010g0195 | 3 | HG01884.hp2 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.6740-538T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 55/65 | chr15 | 48431340 | ||||||
| chr15:48431358
|
C | T | 2 | a0002c0003t0005g0142a0002c0003t0005g0146 | 2 | NA18971.hp1 NA19002.hp1 |
intron_variant | MODIFIER | c.6740-556G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 55/65 | chr15 | 48431358 | ||||||
| chr15:48431584
|
G | A | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.6740-782C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 55/65 | chr15 | 48431584 | ||||||
| chr15:48431627
|
TATA | T | 56 | a0001c0001t0002g0214a0001c0001t0005g0136a0001c0001t0005g0141others(53): Show | 56 | HG00597.hp1 HG01255.hp1 HG01346.hp2 others(53): Show |
intron_variant | MODIFIER | c.6740-828_6740-826d others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 55/65 | chr15 | 48431627 | ||||||
| chr15:48431757
|
C | T | 1 | a0001c0005t0003g0210 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.6740-955G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 55/65 | chr15 | 48431757 | ||||||
| chr15:48431803
|
C | T | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.6740-1001G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 55/65 | chr15 | 48431803 | ||||||
| chr15:48432047
|
T | C | 1 | a0001c0001t0009g0274 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.6739+819A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 55/65 | chr15 | 48432047 | ||||||
| chr15:48432090
|
G | C | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.6739+776C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 55/65 | chr15 | 48432090 | ||||||
| chr15:48432108
|
C | T | 2 | a0001c0001t0010g0018a0001c0001t0010g0225 | 2 | HG01884.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.6739+758G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 55/65 | chr15 | 48432108 | ||||||
| chr15:48432348
|
T | A | 4 | a0001c0001t0005g0136a0001c0001t0005g0280a0003c0008t0005g0015others(1): Show | 4 | HG02257.hp1 HG02572.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.6739+518A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 55/65 | chr15 | 48432348 | ||||||
| chr15:48432349
|
A | T | 4 | a0001c0001t0005g0136a0001c0001t0005g0280a0003c0008t0005g0015others(1): Show | 4 | HG02257.hp1 HG02572.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.6739+517T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 55/65 | chr15 | 48432349 | ||||||
| chr15:48432499
|
T | C | 36 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0092others(33): Show | 36 | HG00621.hp2 HG00673.hp2 HG01123.hp2 others(33): Show |
intron_variant | MODIFIER | c.6739+367A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 55/65 | chr15 | 48432499 | ||||||
| chr15:48432521
|
T | A | 4 | a0001c0001t0005g0136a0001c0001t0005g0280a0003c0008t0005g0015others(1): Show | 4 | HG02257.hp1 HG02572.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.6739+345A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 55/65 | chr15 | 48432521 | ||||||
| chr15:48432528
|
G | A | 3 | a0002c0003t0006g0150a0002c0003t0006g0151a0002c0003t0006g0167 | 3 | NA18986.hp1 NA19007.hp2 NA19065.hp2 |
intron_variant | MODIFIER | c.6739+338C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 55/65 | chr15 | 48432528 | ||||||
| chr15:48432571
|
C | T | 55 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0096others(52): Show | 55 | HG00099.hp2 HG00544.hp2 HG00621.hp1 others(52): Show |
intron_variant | MODIFIER | c.6739+295G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 55/65 | chr15 | 48432571 | ||||||
| chr15:48432741
|
C | T | 1 | a0001c0001t0001g0236 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.6739+125G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 55/65 | chr15 | 48432741 | ||||||
| chr15:48433009
|
T | A | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.6617-21A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 54/65 | chr15 | 48433009 | ||||||
| chr15:48433196
|
C | T | 1 | a0001c0005t0007g0197 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.6617-208G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 54/65 | chr15 | 48433196 | ||||||
| chr15:48433442
|
CCT | C | 4 | a0001c0001t0005g0136a0001c0001t0005g0280a0003c0008t0005g0015others(1): Show | 4 | HG02257.hp1 HG02572.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.6617-456_6617-455d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 54/65 | chr15 | 48433442 | ||||||
| chr15:48433630
|
A | T | 26 | a0001c0001t0001g0090a0001c0001t0001g0132a0001c0001t0001g0176others(23): Show | 26 | HG00408.hp1 HG00597.hp2 HG01167.hp2 others(23): Show |
intron_variant | MODIFIER | c.6617-642T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 54/65 | chr15 | 48433630 | ||||||
| chr15:48433686
|
A | T | 4 | a0001c0001t0005g0136a0001c0001t0005g0280a0003c0008t0005g0015others(1): Show | 4 | HG02257.hp1 HG02572.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.6617-698T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 54/65 | chr15 | 48433686 | ||||||
| chr15:48433982
|
C | A | 36 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(33): Show | 36 | HG00642.hp2 HG01167.hp1 HG01361.hp1 others(33): Show |
intron_variant | MODIFIER | c.6616+612G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 54/65 | chr15 | 48433982 | ||||||
| chr15:48434162
|
T | C | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.6616+432A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 54/65 | chr15 | 48434162 | ||||||
| chr15:48434170
|
A | G | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.6616+424T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 54/65 | chr15 | 48434170 | ||||||
| chr15:48434209
|
G | A | 1 | a0001c0001t0001g0128 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.6616+385C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 54/65 | chr15 | 48434209 | ||||||
| chr15:48434247
|
A | T | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.6616+347T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 54/65 | chr15 | 48434247 | ||||||
| chr15:48434300
|
A | C | 1 | a0001c0002t0008g0285 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.6616+294T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 54/65 | chr15 | 48434300 | ||||||
| chr15:48434353
|
T | C | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.6616+241A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 54/65 | chr15 | 48434353 | ||||||
| chr15:48434736
|
C | G | 37 | a0001c0001t0005g0136a0001c0001t0005g0141a0001c0001t0005g0221others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(34): Show |
intron_variant | MODIFIER | c.6497-23G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48434736 | ||||||
| chr15:48435324
|
T | TA | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.6497-612dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435324 | ||||||
| chr15:48435475
|
G | A | 3 | a0001c0001t0001g0128a0001c0002t0001g0022a0010c0020t0001g0129 | 3 | HG02717.hp1 HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.6497-762C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435475 | ||||||
| chr15:48435547
|
A | T | 2 | a0001c0001t0010g0018a0001c0001t0010g0225 | 2 | HG01884.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.6497-834T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435547 | ||||||
| chr15:48435551
|
T | A | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.6497-838A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435551 | ||||||
| chr15:48435617
|
C | T | 12 | a0002c0003t0005g0142a0002c0003t0005g0143a0002c0003t0005g0144others(9): Show | 12 | HG00597.hp1 NA18945.hp2 NA18969.hp2 others(9): Show |
intron_variant | MODIFIER | c.6497-904G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435617 | ||||||
| chr15:48435666
|
A | ATG | 46 | a0001c0001t0001g0286a0001c0001t0002g0214a0001c0001t0011g0007others(43): Show | 46 | HG00408.hp2 HG00544.hp1 HG01243.hp1 others(43): Show |
intron_variant | MODIFIER | c.6497-955_6497-954d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435666 | ||||||
| chr15:48435666
|
A | ATGTGTGT others(5): Show |
1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.6497-965_6497-954d others(14): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435666 | ||||||
| chr15:48435666
|
A | ATGTGTGT others(7): Show |
2 | a0001c0007t0002g0013a0001c0007t0002g0014 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.6497-967_6497-954d others(16): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435666 | ||||||
| chr15:48435666
|
A | ATGTGTGT others(11): Show |
1 | a0001c0001t0002g0091 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.6497-971_6497-954d others(20): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435666 | ||||||
| chr15:48435666
|
ATG | A | 43 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0092others(40): Show | 43 | HG00621.hp2 HG00673.hp2 HG01123.hp2 others(40): Show |
intron_variant | MODIFIER | c.6497-955_6497-954d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435666 | ||||||
| chr15:48435692
|
A | G | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.6497-979T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435692 | ||||||
| chr15:48435712
|
G | A | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.6497-999C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435712 | ||||||
| chr15:48435738
|
G | GTGTGTAT others(5): Show |
2 | a0001c0001t0009g0257a0001c0001t0009g0258 | 2 | HG02080.hp1 NA18992.hp2 |
intron_variant | MODIFIER | c.6497-1037_6497-102 others(16): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435738 | ||||||
| chr15:48435742
|
G | GTA | 32 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(29): Show | 32 | HG00408.hp2 HG00544.hp1 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.6497-1031_6497-103 others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435742 | ||||||
| chr15:48435752
|
G | GTGTATAT others(3): Show |
1 | a0001c0001t0025g0109 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.6497-1040_6497-103 others(14): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435752 | ||||||
| chr15:48435756
|
G | A | 46 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0096others(43): Show | 46 | HG00099.hp2 HG00621.hp1 HG00673.hp1 others(43): Show |
intron_variant | MODIFIER | c.6497-1043C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435756 | ||||||
| chr15:48435758
|
A | G | 1 | a0001c0001t0025g0109 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.6497-1045T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435758 | ||||||
| chr15:48435764
|
A | G | 46 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0096others(43): Show | 46 | HG00099.hp2 HG00621.hp1 HG00673.hp1 others(43): Show |
intron_variant | MODIFIER | c.6497-1051T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435764 | ||||||
| chr15:48435766
|
G | A | 1 | a0001c0001t0025g0109 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.6497-1053C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435766 | ||||||
| chr15:48435766
|
G | GTGTATAT others(17): Show |
53 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0092others(50): Show | 53 | HG00621.hp2 HG00673.hp2 HG01123.hp2 others(50): Show |
intron_variant | MODIFIER | c.6497-1054_6497-105 others(28): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435766 | ||||||
| chr15:48435768
|
G | A | 5 | a0001c0001t0009g0257a0001c0001t0009g0258a0001c0007t0002g0013others(2): Show | 5 | HG02080.hp1 HG02896.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.6497-1055C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435768 | ||||||
| chr15:48435768
|
G | GTATA | 61 | a0001c0001t0001g0190a0001c0001t0005g0136a0001c0001t0005g0141others(58): Show | 61 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(58): Show |
intron_variant | MODIFIER | c.6497-1059_6497-105 others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435768 | ||||||
| chr15:48435768
|
G | GTATATAT others(19): Show |
13 | a0001c0001t0001g0090a0001c0001t0001g0128a0001c0001t0001g0132others(10): Show | 13 | HG00408.hp1 HG00597.hp2 HG02451.hp1 others(10): Show |
intron_variant | MODIFIER | c.6497-1056_6497-105 others(30): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435768 | ||||||
| chr15:48435770
|
A | ATATATAT others(15): Show |
2 | a0001c0001t0008g0121a0001c0025t0008g0203 | 2 | HG02622.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.6497-1058_6497-105 others(26): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435770 | ||||||
| chr15:48435772
|
A | ATATATG | 21 | a0001c0001t0001g0176a0001c0001t0001g0177a0001c0001t0001g0178others(18): Show | 21 | HG01243.hp1 HG01255.hp1 HG02155.hp2 others(18): Show |
intron_variant | MODIFIER | c.6497-1060_6497-105 others(10): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435772 | ||||||
| chr15:48435772
|
A | ATATATGT others(7): Show |
26 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0096others(23): Show | 26 | HG00099.hp2 HG00621.hp1 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.6497-1060_6497-105 others(18): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435772 | ||||||
| chr15:48435772
|
A | ATATATGT others(9): Show |
16 | a0001c0001t0001g0217a0001c0001t0001g0230a0001c0001t0001g0232others(13): Show | 16 | HG00741.hp1 HG01106.hp2 HG01175.hp1 others(13): Show |
intron_variant | MODIFIER | c.6497-1060_6497-105 others(20): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435772 | ||||||
| chr15:48435772
|
A | ATATATGT others(11): Show |
3 | a0001c0001t0001g0248a0001c0001t0001g0252a0001c0001t0001g0260 | 3 | HG03017.hp2 HG03669.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.6497-1060_6497-105 others(22): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435772 | ||||||
| chr15:48435772
|
A | ATATATGT others(9): Show |
1 | a0001c0001t0001g0241 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.6497-1060_6497-105 others(20): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435772 | ||||||
| chr15:48435772
|
A | ATATATGT others(21): Show |
9 | a0001c0001t0001g0002a0001c0001t0001g0220a0001c0001t0001g0265others(6): Show | 9 | HG00544.hp2 HG01257.hp1 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.6497-1060_6497-105 others(32): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435772 | ||||||
| chr15:48435772
|
A | ATATATGT others(23): Show |
9 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0002g0075others(6): Show | 9 | HG01167.hp1 HG02615.hp2 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.6497-1060_6497-105 others(34): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435772 | ||||||
| chr15:48435772
|
A | ATATATGT others(25): Show |
21 | a0001c0001t0002g0071a0001c0001t0002g0072a0001c0001t0002g0073others(18): Show | 21 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(18): Show |
intron_variant | MODIFIER | c.6497-1060_6497-105 others(36): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435772 | ||||||
| chr15:48435772
|
A | ATATATGT others(27): Show |
8 | a0001c0001t0002g0003a0001c0001t0020g0070a0002c0003t0002g0145others(5): Show | 8 | HG02896.hp2 HG02897.hp1 HG03704.hp1 others(5): Show |
intron_variant | MODIFIER | c.6497-1060_6497-105 others(38): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435772 | ||||||
| chr15:48435772
|
A | ATG | 3 | a0001c0002t0004g0043a0001c0005t0003g0208a0001c0005t0003g0209 | 3 | HG02965.hp2 HG03130.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.6497-1061_6497-106 others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435772 | ||||||
| chr15:48435774
|
G | A | 62 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0092others(59): Show | 62 | HG00621.hp2 HG00673.hp2 HG01123.hp2 others(59): Show |
intron_variant | MODIFIER | c.6497-1061C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435774 | ||||||
| chr15:48435776
|
G | A | 7 | a0001c0004t0004g0068a0001c0004t0004g0069a0001c0004t0004g0105others(4): Show | 7 | HG01884.hp2 HG02818.hp1 HG03654.hp1 others(4): Show |
intron_variant | MODIFIER | c.6497-1063C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435776 | ||||||
| chr15:48435776
|
G | GTATATAT others(7): Show |
6 | a0001c0004t0004g0058a0001c0005t0013g0199a0001c0006t0013g0215others(3): Show | 6 | HG02922.hp2 HG03041.hp1 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.6497-1064_6497-106 others(18): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435776 | ||||||
| chr15:48435776
|
G | GTATATAT others(9): Show |
15 | a0001c0001t0001g0176a0001c0001t0001g0177a0001c0001t0001g0178others(12): Show | 15 | HG01243.hp1 HG01255.hp1 HG02155.hp2 others(12): Show |
intron_variant | MODIFIER | c.6497-1064_6497-106 others(20): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435776 | ||||||
| chr15:48435778
|
G | GTATATAT others(7): Show |
34 | a0001c0001t0005g0136a0001c0001t0005g0141a0001c0001t0005g0221others(31): Show | 34 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(31): Show |
intron_variant | MODIFIER | c.6497-1066_6497-106 others(18): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435778 | ||||||
| chr15:48435778
|
G | GTATATAT others(9): Show |
27 | a0001c0001t0001g0190a0001c0001t0010g0018a0001c0002t0008g0133others(24): Show | 27 | HG00408.hp2 HG00544.hp1 HG01884.hp1 others(24): Show |
intron_variant | MODIFIER | c.6497-1066_6497-106 others(20): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435778 | ||||||
| chr15:48435780
|
G | GTGTATAT others(9): Show |
1 | a0002c0003t0005g0171 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.6497-1068_6497-106 others(20): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435780 | ||||||
| chr15:48435780
|
G | GTGTATAT others(11): Show |
3 | a0001c0004t0004g0068a0001c0004t0004g0069a0001c0004t0004g0105 | 3 | HG03654.hp1 HG03831.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.6497-1068_6497-106 others(22): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435780 | ||||||
| chr15:48435782
|
G | GTATATAT others(1): Show |
3 | a0001c0004t0010g0012a0001c0012t0010g0016a0001c0024t0010g0195 | 3 | HG01884.hp2 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.6497-1070_6497-106 others(12): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435782 | ||||||
| chr15:48435786
|
G | A | 3 | a0001c0004t0010g0012a0001c0012t0010g0016a0001c0024t0010g0195 | 3 | HG01884.hp2 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.6497-1073C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435786 | ||||||
| chr15:48435788
|
G | A | 3 | a0001c0004t0010g0012a0001c0012t0010g0016a0001c0024t0010g0195 | 3 | HG01884.hp2 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.6497-1075C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435788 | ||||||
| chr15:48435790
|
G | A | 3 | a0001c0004t0010g0012a0001c0012t0010g0016a0001c0024t0010g0195 | 3 | HG01884.hp2 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.6497-1077C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435790 | ||||||
| chr15:48435810
|
G | A | 44 | a0001c0001t0001g0092a0001c0001t0001g0095a0001c0001t0001g0098others(41): Show | 44 | HG00099.hp1 HG00621.hp2 HG00673.hp2 others(41): Show |
intron_variant | MODIFIER | c.6497-1097C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435810 | ||||||
| chr15:48435812
|
A | G | 71 | a0001c0001t0001g0272a0001c0001t0005g0136a0001c0001t0005g0141others(68): Show | 71 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(68): Show |
intron_variant | MODIFIER | c.6497-1099T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435812 | ||||||
| chr15:48435904
|
A | G | 1 | a0001c0004t0004g0056 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.6496+1057T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48435904 | ||||||
| chr15:48436094
|
A | C | 57 | a0001c0001t0002g0214a0001c0001t0005g0136a0001c0001t0005g0141others(54): Show | 57 | HG00597.hp1 HG01255.hp1 HG01346.hp2 others(54): Show |
intron_variant | MODIFIER | c.6496+867T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48436094 | ||||||
| chr15:48436123
|
A | C | 35 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0092others(32): Show | 35 | HG00621.hp2 HG00673.hp2 HG01123.hp2 others(32): Show |
intron_variant | MODIFIER | c.6496+838T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48436123 | ||||||
| chr15:48436353
|
CACAG | C | 3 | a0001c0004t0010g0012a0001c0012t0010g0016a0001c0024t0010g0195 | 3 | HG01884.hp2 HG02818.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.6496+604_6496+607d others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48436353 | ||||||
| chr15:48436437
|
C | T | 127 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(124): Show | 127 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(124): Show |
intron_variant | MODIFIER | c.6496+524G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48436437 | ||||||
| chr15:48436593
|
T | G | 5 | a0001c0002t0007g0021a0001c0005t0007g0197a0001c0005t0007g0205others(2): Show | 5 | HG02723.hp2 HG02976.hp2 HG03579.hp2 others(2): Show |
intron_variant | MODIFIER | c.6496+368A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48436593 | ||||||
| chr15:48436637
|
A | T | 1 | a0001c0004t0004g0063 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.6496+324T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48436637 | ||||||
| chr15:48436661
|
T | C | 1 | a0001c0001t0001g0220 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.6496+300A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48436661 | ||||||
| chr15:48436676
|
T | C | 1 | a0001c0004t0004g0068 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.6496+285A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48436676 | ||||||
| chr15:48436777
|
A | G | 1 | a0001c0001t0001g0092 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.6496+184T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48436777 | ||||||
| chr15:48436833
|
T | C | 36 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(33): Show | 36 | HG00642.hp2 HG01167.hp2 HG01361.hp1 others(33): Show |
intron_variant | MODIFIER | c.6496+128A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | 48436833 | ||||||
| chr15:48437162
|
A | T | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.6380-85T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 52/65 | chr15 | 48437162 | ||||||
| chr15:48437207
|
G | A | 32 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0092others(29): Show | 32 | HG00621.hp2 HG00673.hp2 HG01123.hp2 others(29): Show |
intron_variant | MODIFIER | c.6379+115C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 52/65 | chr15 | 48437207 | ||||||
| chr15:48437451
|
T | C | 259 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(256): Show | 259 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(256): Show |
intron_variant | MODIFIER | c.6314-64A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 51/65 | chr15 | 48437451 | ||||||
| chr15:48437723
|
C | T | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.6313+45G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 51/65 | chr15 | 48437723 | ||||||
| chr15:48438215
|
C | T | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.6164-298G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48438215 | ||||||
| chr15:48438285
|
T | C | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.6164-368A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48438285 | ||||||
| chr15:48438365
|
A | G | 34 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0092others(31): Show | 34 | HG00621.hp2 HG00673.hp2 HG01123.hp2 others(31): Show |
intron_variant | MODIFIER | c.6164-448T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48438365 | ||||||
| chr15:48438383
|
T | C | 2 | a0003c0008t0005g0015a0003c0008t0005g0122 | 2 | HG02257.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.6164-466A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48438383 | ||||||
| chr15:48438540
|
C | T | 1 | a0001c0001t0001g0172 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.6164-623G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48438540 | ||||||
| chr15:48438670
|
A | G | 2 | a0001c0001t0008g0121a0001c0025t0008g0203 | 2 | HG02622.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.6164-753T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48438670 | ||||||
| chr15:48438672
|
T | C | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.6164-755A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48438672 | ||||||
| chr15:48438740
|
G | A | 4 | a0001c0002t0001g0020a0001c0002t0001g0283a0001c0002t0002g0282others(1): Show | 4 | HG01167.hp2 HG02630.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.6164-823C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48438740 | ||||||
| chr15:48438768
|
T | C | 2 | a0001c0005t0013g0199a0001c0022t0013g0010 | 2 | HG02922.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.6164-851A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48438768 | ||||||
| chr15:48438867
|
C | T | 4 | a0001c0002t0002g0084a0001c0002t0002g0125a0001c0002t0002g0126others(1): Show | 4 | HG02257.hp2 HG02280.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.6164-950G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48438867 | ||||||
| chr15:48438890
|
C | G | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.6164-973G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48438890 | ||||||
| chr15:48438967
|
C | A | 1 | a0001c0002t0003g0024 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.6164-1050G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48438967 | ||||||
| chr15:48439207
|
A | T | 1 | a0002c0003t0006g0173 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.6164-1290T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48439207 | ||||||
| chr15:48439712
|
G | A | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.6164-1795C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48439712 | ||||||
| chr15:48439817
|
T | C | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.6164-1900A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48439817 | ||||||
| chr15:48439896
|
C | T | 1 | a0001c0001t0001g0178 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.6163+1825G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48439896 | ||||||
| chr15:48439915
|
G | A | 33 | a0001c0001t0005g0221a0001c0001t0005g0223a0001c0002t0018g0253others(30): Show | 33 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(30): Show |
intron_variant | MODIFIER | c.6163+1806C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48439915 | ||||||
| chr15:48440146
|
C | G | 1 | a0001c0004t0004g0062 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.6163+1575G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48440146 | ||||||
| chr15:48440192
|
G | C | 2 | a0001c0002t0007g0127a0001c0005t0007g0200 | 2 | HG01255.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.6163+1529C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48440192 | ||||||
| chr15:48440273
|
T | C | 2 | a0001c0001t0001g0120a0001c0001t0001g0184 | 2 | NA18959.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.6163+1448A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48440273 | ||||||
| chr15:48440374
|
G | A | 2 | a0001c0001t0005g0141a0005c0016t0011g0123 | 2 | HG02451.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.6163+1347C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48440374 | ||||||
| chr15:48440375
|
G | A | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.6163+1346C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48440375 | ||||||
| chr15:48440450
|
C | T | 1 | a0002c0003t0005g0143 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.6163+1271G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48440450 | ||||||
| chr15:48440495
|
A | G | 258 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(255): Show | 258 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(255): Show |
intron_variant | MODIFIER | c.6163+1226T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48440495 | ||||||
| chr15:48440525
|
G | A | 7 | a0001c0002t0007g0021a0001c0002t0007g0127a0001c0005t0007g0197others(4): Show | 7 | HG01255.hp1 HG02622.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.6163+1196C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48440525 | ||||||
| chr15:48440589
|
G | A | 2 | a0001c0002t0003g0032a0001c0002t0003g0033 | 2 | HG01516.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.6163+1132C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48440589 | ||||||
| chr15:48440700
|
C | G | 1 | a0001c0001t0001g0177 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.6163+1021G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48440700 | ||||||
| chr15:48440872
|
T | C | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.6163+849A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48440872 | ||||||
| chr15:48440889
|
C | CA | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.6163+831dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48440889 | ||||||
| chr15:48440899
|
T | TA | 99 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(96): Show | 99 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(96): Show |
intron_variant | MODIFIER | c.6163+821_6163+822i others(3): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48440899 | ||||||
| chr15:48440899
|
T | TAA | 21 | a0001c0001t0001g0098a0001c0001t0001g0100a0001c0001t0001g0101others(18): Show | 21 | HG00597.hp2 HG01123.hp2 HG01192.hp2 others(18): Show |
intron_variant | MODIFIER | c.6163+821_6163+822i others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48440899 | ||||||
| chr15:48440900
|
G | A | 125 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(122): Show | 125 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(122): Show |
intron_variant | MODIFIER | c.6163+821C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48440900 | ||||||
| chr15:48440900
|
G | GA | 28 | a0001c0001t0002g0079a0001c0001t0002g0214a0001c0001t0005g0141others(25): Show | 28 | HG01243.hp1 HG01255.hp1 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.6163+820dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48440900 | ||||||
| chr15:48440900
|
G | GAA | 33 | a0001c0001t0005g0136a0001c0001t0005g0221a0001c0001t0005g0223others(30): Show | 33 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(30): Show |
intron_variant | MODIFIER | c.6163+819_6163+820d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48440900 | ||||||
| chr15:48440953
|
CA | C | 5 | a0001c0001t0002g0091a0001c0007t0002g0013a0001c0007t0002g0014others(2): Show | 5 | HG02258.hp2 HG02896.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.6163+767delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48440953 | ||||||
| chr15:48441132
|
T | C | 1 | a0001c0001t0001g0220 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.6163+589A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48441132 | ||||||
| chr15:48441140
|
G | A | 1 | a0001c0001t0005g0141 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.6163+581C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48441140 | ||||||
| chr15:48441428
|
C | T | 125 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(122): Show | 125 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(122): Show |
intron_variant | MODIFIER | c.6163+293G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48441428 | ||||||
| chr15:48441460
|
CT | C | 3 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0001g0190 | 3 | HG02559.hp2 HG02615.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.6163+260delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48441460 | ||||||
| chr15:48441463
|
T | G | 3 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0001g0190 | 3 | HG02559.hp2 HG02615.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.6163+258A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48441463 | ||||||
| chr15:48441491
|
G | T | 1 | a0001c0001t0001g0092 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.6163+230C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48441491 | ||||||
| chr15:48441575
|
C | T | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.6163+146G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48441575 | ||||||
| chr15:48441591
|
G | A | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.6163+130C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48441591 | ||||||
| chr15:48441642
|
G | C | 2 | a0001c0001t0008g0121a0001c0025t0008g0203 | 2 | HG02622.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.6163+79C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 50/65 | chr15 | 48441642 | ||||||
| chr15:48441854
|
A | T | 2 | a0001c0001t0001g0095a0001c0001t0001g0116 | 2 | HG03688.hp2 NA20905.hp1 |
splice_region_variant&intron_variant | LOW | c.6038-8T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48441854 | ||||||
| chr15:48442013
|
T | C | 1 | a0001c0004t0004g0052 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.6038-167A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48442013 | ||||||
| chr15:48442019
|
C | T | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.6038-173G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48442019 | ||||||
| chr15:48442136
|
C | T | 1 | a0001c0001t0009g0257 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.6038-290G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48442136 | ||||||
| chr15:48442248
|
C | G | 258 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(255): Show | 258 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(255): Show |
intron_variant | MODIFIER | c.6038-402G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48442248 | ||||||
| chr15:48442427
|
G | A | 55 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0096others(52): Show | 55 | HG00099.hp2 HG00544.hp2 HG00621.hp1 others(52): Show |
intron_variant | MODIFIER | c.6038-581C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48442427 | ||||||
| chr15:48442454
|
G | A | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.6038-608C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48442454 | ||||||
| chr15:48442505
|
C | T | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.6038-659G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48442505 | ||||||
| chr15:48442524
|
T | C | 1 | a0001c0006t0013g0215 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.6038-678A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48442524 | ||||||
| chr15:48442737
|
C | T | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.6038-891G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48442737 | ||||||
| chr15:48442816
|
T | C | 1 | a0001c0005t0014g0196 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.6038-970A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48442816 | ||||||
| chr15:48443047
|
T | C | 1 | a0002c0003t0005g0165 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.6038-1201A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48443047 | ||||||
| chr15:48443182
|
T | C | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.6038-1336A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48443182 | ||||||
| chr15:48443206
|
C | T | 33 | a0001c0001t0005g0221a0001c0001t0005g0223a0001c0002t0018g0253others(30): Show | 33 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(30): Show |
intron_variant | MODIFIER | c.6037+1335G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48443206 | ||||||
| chr15:48443389
|
G | A | 1 | a0001c0002t0001g0022 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.6037+1152C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48443389 | ||||||
| chr15:48443455
|
C | T | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.6037+1086G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48443455 | ||||||
| chr15:48443527
|
G | T | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.6037+1014C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48443527 | ||||||
| chr15:48443568
|
T | C | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.6037+973A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48443568 | ||||||
| chr15:48443677
|
G | C | 2 | a0001c0001t0010g0018a0001c0001t0010g0225 | 2 | HG01884.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.6037+864C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48443677 | ||||||
| chr15:48443758
|
T | C | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.6037+783A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48443758 | ||||||
| chr15:48443799
|
G | A | 1 | a0001c0001t0011g0008 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.6037+742C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48443799 | ||||||
| chr15:48443808
|
G | T | 5 | a0001c0001t0002g0091a0001c0007t0002g0013a0001c0007t0002g0014others(2): Show | 5 | HG02258.hp2 HG02896.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.6037+733C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48443808 | ||||||
| chr15:48443830
|
T | G | 1 | a0001c0005t0003g0204 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.6037+711A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48443830 | ||||||
| chr15:48443834
|
G | A | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.6037+707C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48443834 | ||||||
| chr15:48444028
|
C | G | 12 | a0001c0001t0002g0214a0001c0002t0007g0021a0001c0002t0007g0127others(9): Show | 12 | HG01255.hp1 HG02451.hp2 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.6037+513G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48444028 | ||||||
| chr15:48444036
|
AAAAC | A | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.6037+501_6037+504d others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48444036 | ||||||
| chr15:48444073
|
T | C | 1 | a0002c0003t0005g0157 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.6037+468A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48444073 | ||||||
| chr15:48444098
|
G | C | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.6037+443C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48444098 | ||||||
| chr15:48444116
|
T | C | 1 | a0001c0001t0001g0118 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.6037+425A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48444116 | ||||||
| chr15:48444242
|
G | C | 33 | a0001c0001t0005g0221a0001c0001t0005g0223a0001c0002t0018g0253others(30): Show | 33 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(30): Show |
intron_variant | MODIFIER | c.6037+299C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48444242 | ||||||
| chr15:48444245
|
C | T | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.6037+296G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48444245 | ||||||
| chr15:48444418
|
T | C | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.6037+123A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48444418 | ||||||
| chr15:48444487
|
A | T | 130 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(127): Show | 130 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(127): Show |
intron_variant | MODIFIER | c.6037+54T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 49/65 | chr15 | 48444487 | ||||||
| chr15:48444739
|
A | G | 1 | a0001c0002t0003g0044 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.5918-79T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48444739 | ||||||
| chr15:48444753
|
A | G | 7 | a0001c0002t0007g0021a0001c0002t0007g0127a0001c0005t0007g0197others(4): Show | 7 | HG01255.hp1 HG02622.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.5918-93T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48444753 | ||||||
| chr15:48444843
|
T | C | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5918-183A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48444843 | ||||||
| chr15:48444893
|
C | T | 1 | a0001c0001t0010g0225 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.5918-233G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48444893 | ||||||
| chr15:48444929
|
T | TAA | 258 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(255): Show | 258 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(255): Show |
intron_variant | MODIFIER | c.5918-270_5918-269i others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48444929 | ||||||
| chr15:48445019
|
A | G | 1 | a0001c0002t0007g0021 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.5917+357T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48445019 | ||||||
| chr15:48445036
|
T | C | 1 | a0001c0001t0001g0263 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.5917+340A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48445036 | ||||||
| chr15:48445062
|
T | C | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5917+314A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48445062 | ||||||
| chr15:48445106
|
T | TTA | 36 | a0001c0001t0002g0091a0001c0001t0005g0221a0001c0001t0005g0223others(33): Show | 36 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(33): Show |
intron_variant | MODIFIER | c.5917+268_5917+269d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48445106 | ||||||
| chr15:48445118
|
ATACACAT others(83): Show |
A | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5917+168_5917+257d others(92): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48445118 | ||||||
| chr15:48445121
|
C | T | 1 | a0002c0003t0006g0168 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.5917+255G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48445121 | ||||||
| chr15:48445125
|
T | C | 1 | a0002c0003t0006g0168 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.5917+251A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48445125 | ||||||
| chr15:48445127
|
T | C | 8 | a0001c0001t0002g0214a0001c0002t0007g0021a0001c0002t0007g0127others(5): Show | 8 | HG01255.hp1 HG02622.hp2 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.5917+249A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48445127 | ||||||
| chr15:48445135
|
T | C | 1 | a0001c0001t0002g0081 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.5917+241A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48445135 | ||||||
| chr15:48445137
|
C | T | 1 | a0002c0003t0006g0168 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.5917+239G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48445137 | ||||||
| chr15:48445141
|
CACACATA others(7): Show |
C | 1 | a0001c0001t0002g0081 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.5917+221_5917+234d others(16): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48445141 | ||||||
| chr15:48445143
|
CACATATA others(5): Show |
C | 34 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(31): Show | 34 | HG00642.hp2 HG01167.hp2 HG01361.hp1 others(31): Show |
intron_variant | MODIFIER | c.5917+221_5917+232d others(14): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48445143 | ||||||
| chr15:48445145
|
C | CAT | 3 | a0001c0002t0003g0039a0001c0002t0003g0041a0001c0002t0003g0042 | 3 | HG01255.hp2 HG02602.hp2 HG03669.hp2 |
intron_variant | MODIFIER | c.5917+229_5917+230d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48445145 | ||||||
| chr15:48445147
|
T | C | 3 | a0001c0001t0008g0121a0001c0025t0008g0203a0002c0003t0006g0168 | 3 | HG02622.hp1 NA19086.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.5917+229A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48445147 | ||||||
| chr15:48445168
|
A | G | 2 | a0001c0001t0010g0018a0001c0001t0010g0225 | 2 | HG01884.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.5917+208T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48445168 | ||||||
| chr15:48445173
|
CAT | C | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.5917+201_5917+202d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48445173 | ||||||
| chr15:48445174
|
A | ATATATAT others(27): Show |
1 | a0001c0001t0020g0070 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.5917+168_5917+201d others(36): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48445174 | ||||||
| chr15:48445182
|
ATGTATAT others(19): Show |
A | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.5917+168_5917+193d others(28): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48445182 | ||||||
| chr15:48445215
|
T | A | 2 | a0001c0001t0005g0141a0005c0016t0011g0123 | 2 | HG02451.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.5917+161A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 48/65 | chr15 | 48445215 | ||||||
| chr15:48445782
|
T | C | 1 | a0001c0001t0001g0111 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.5789-278A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 47/65 | chr15 | 48445782 | ||||||
| chr15:48445792
|
T | C | 1 | a0009c0014t0001g0227 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.5789-288A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 47/65 | chr15 | 48445792 | ||||||
| chr15:48445862
|
T | C | 27 | a0001c0001t0002g0214a0001c0001t0005g0136a0001c0001t0005g0141others(24): Show | 27 | HG01255.hp1 HG01884.hp1 HG02257.hp1 others(24): Show |
intron_variant | MODIFIER | c.5789-358A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 47/65 | chr15 | 48445862 | ||||||
| chr15:48446295
|
G | A | 1 | a0001c0002t0002g0284 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.5788+411C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 47/65 | chr15 | 48446295 | ||||||
| chr15:48446311
|
G | T | 2 | a0001c0001t0005g0141a0005c0016t0011g0123 | 2 | HG02451.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.5788+395C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 47/65 | chr15 | 48446311 | ||||||
| chr15:48446392
|
T | C | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5788+314A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 47/65 | chr15 | 48446392 | ||||||
| chr15:48446558
|
A | G | 1 | a0001c0001t0001g0248 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.5788+148T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 47/65 | chr15 | 48446558 | ||||||
| chr15:48446885
|
C | A | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5672-63G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48446885 | ||||||
| chr15:48447027
|
T | C | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5672-205A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48447027 | ||||||
| chr15:48447077
|
A | G | 131 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(128): Show | 131 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(128): Show |
intron_variant | MODIFIER | c.5672-255T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48447077 | ||||||
| chr15:48447145
|
T | C | 2 | a0002c0009t0001g0211a0002c0009t0001g0212 | 2 | HG02809.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.5672-323A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48447145 | ||||||
| chr15:48447304
|
C | T | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.5672-482G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48447304 | ||||||
| chr15:48447455
|
T | C | 33 | a0001c0001t0005g0221a0001c0001t0005g0223a0001c0002t0018g0253others(30): Show | 33 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(30): Show |
intron_variant | MODIFIER | c.5672-633A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48447455 | ||||||
| chr15:48447468
|
G | A | 33 | a0001c0001t0005g0221a0001c0001t0005g0223a0001c0002t0018g0253others(30): Show | 33 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(30): Show |
intron_variant | MODIFIER | c.5672-646C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48447468 | ||||||
| chr15:48447493
|
A | G | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.5672-671T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48447493 | ||||||
| chr15:48447524
|
C | G | 2 | a0001c0001t0008g0121a0001c0025t0008g0203 | 2 | HG02622.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.5672-702G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48447524 | ||||||
| chr15:48447665
|
T | C | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5672-843A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48447665 | ||||||
| chr15:48447665
|
T | TGA | 36 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(33): Show | 36 | HG00642.hp2 HG01167.hp2 HG01361.hp1 others(33): Show |
intron_variant | MODIFIER | c.5672-845_5672-844d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48447665 | ||||||
| chr15:48447671
|
A | T | 7 | a0001c0002t0007g0021a0001c0002t0007g0127a0001c0005t0007g0197others(4): Show | 7 | HG01255.hp1 HG02622.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.5672-849T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48447671 | ||||||
| chr15:48447735
|
T | G | 1 | a0001c0005t0007g0200 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.5672-913A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48447735 | ||||||
| chr15:48447778
|
C | T | 1 | a0001c0001t0001g0094 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.5672-956G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48447778 | ||||||
| chr15:48447805
|
A | G | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5671+963T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48447805 | ||||||
| chr15:48447875
|
T | C | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5671+893A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48447875 | ||||||
| chr15:48447900
|
C | T | 125 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(122): Show | 125 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(122): Show |
intron_variant | MODIFIER | c.5671+868G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48447900 | ||||||
| chr15:48448058
|
G | A | 1 | a0001c0001t0005g0221 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.5671+710C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48448058 | ||||||
| chr15:48448209
|
T | TTAAAGTA others(327): Show |
3 | a0001c0001t0005g0136a0001c0001t0005g0280a0003c0008t0005g0122 | 3 | HG02257.hp1 HG02572.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.5671+558_5671+559i others(336): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48448209 | ||||||
| chr15:48448209
|
T | TTAAAGTA others(328): Show |
1 | a0003c0008t0005g0015 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.5671+558_5671+559i others(337): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48448209 | ||||||
| chr15:48448245
|
T | C | 8 | a0001c0001t0002g0214a0001c0002t0007g0021a0001c0002t0007g0127others(5): Show | 8 | HG01255.hp1 HG02622.hp2 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.5671+523A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48448245 | ||||||
| chr15:48448286
|
G | A | 1 | a0001c0005t0014g0196 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5671+482C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48448286 | ||||||
| chr15:48448348
|
T | C | 2 | a0001c0001t0008g0121a0001c0025t0008g0203 | 2 | HG02622.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.5671+420A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48448348 | ||||||
| chr15:48448425
|
A | G | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5671+343T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48448425 | ||||||
| chr15:48448580
|
G | A | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5671+188C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48448580 | ||||||
| chr15:48448739
|
G | GA | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5671+28dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 46/65 | chr15 | 48448739 | ||||||
| chr15:48449064
|
T | A | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5546-171A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48449064 | ||||||
| chr15:48449172
|
C | T | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5546-279G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48449172 | ||||||
| chr15:48449173
|
G | A | 33 | a0001c0001t0005g0221a0001c0001t0005g0223a0001c0002t0018g0253others(30): Show | 33 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(30): Show |
intron_variant | MODIFIER | c.5546-280C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48449173 | ||||||
| chr15:48449196
|
C | T | 32 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0092others(29): Show | 32 | HG00621.hp2 HG00673.hp2 HG01123.hp2 others(29): Show |
intron_variant | MODIFIER | c.5546-303G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48449196 | ||||||
| chr15:48449204
|
G | A | 11 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(8): Show | 11 | HG00642.hp2 HG01517.hp2 HG01981.hp1 others(8): Show |
intron_variant | MODIFIER | c.5546-311C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48449204 | ||||||
| chr15:48449293
|
T | G | 31 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0004t0004g0017others(28): Show | 31 | HG00408.hp2 HG00544.hp1 HG01884.hp1 others(28): Show |
intron_variant | MODIFIER | c.5546-400A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48449293 | ||||||
| chr15:48449360
|
T | C | 31 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0004t0004g0017others(28): Show | 31 | HG00408.hp2 HG00544.hp1 HG01884.hp1 others(28): Show |
intron_variant | MODIFIER | c.5546-467A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48449360 | ||||||
| chr15:48449616
|
T | TTATA | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5546-724_5546-723i others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48449616 | ||||||
| chr15:48449799
|
G | A | 38 | a0001c0001t0005g0136a0001c0001t0005g0141a0001c0001t0005g0280others(35): Show | 38 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(35): Show |
intron_variant | MODIFIER | c.5546-906C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48449799 | ||||||
| chr15:48449818
|
A | C | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.5546-925T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48449818 | ||||||
| chr15:48449873
|
C | G | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5546-980G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48449873 | ||||||
| chr15:48449940
|
G | A | 9 | a0001c0001t0005g0136a0001c0001t0005g0141a0001c0001t0005g0280others(6): Show | 9 | HG02257.hp1 HG02451.hp1 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.5546-1047C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48449940 | ||||||
| chr15:48450350
|
C | T | 1 | a0001c0004t0004g0138 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.5546-1457G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48450350 | ||||||
| chr15:48450593
|
C | G | 31 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0004t0004g0017others(28): Show | 31 | HG00408.hp2 HG00544.hp1 HG01884.hp1 others(28): Show |
intron_variant | MODIFIER | c.5546-1700G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48450593 | ||||||
| chr15:48450610
|
T | C | 31 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0004t0004g0017others(28): Show | 31 | HG00408.hp2 HG00544.hp1 HG01884.hp1 others(28): Show |
intron_variant | MODIFIER | c.5546-1717A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48450610 | ||||||
| chr15:48450611
|
G | C | 31 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0004t0004g0017others(28): Show | 31 | HG00408.hp2 HG00544.hp1 HG01884.hp1 others(28): Show |
intron_variant | MODIFIER | c.5546-1718C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48450611 | ||||||
| chr15:48450644
|
T | C | 258 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(255): Show | 258 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(255): Show |
intron_variant | MODIFIER | c.5546-1751A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48450644 | ||||||
| chr15:48450683
|
A | G | 4 | a0001c0001t0005g0136a0001c0001t0005g0280a0003c0008t0005g0015others(1): Show | 4 | HG02257.hp1 HG02572.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.5546-1790T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48450683 | ||||||
| chr15:48450736
|
T | C | 1 | a0002c0003t0005g0143 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.5545+1826A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48450736 | ||||||
| chr15:48450864
|
G | GA | 64 | a0001c0001t0001g0128a0001c0001t0005g0221a0001c0001t0005g0223others(61): Show | 64 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.5545+1697dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48450864 | ||||||
| chr15:48450864
|
GA | G | 8 | a0001c0001t0001g0271a0001c0002t0007g0021a0001c0002t0007g0127others(5): Show | 8 | HG01255.hp1 HG02622.hp2 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.5545+1697delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48450864 | ||||||
| chr15:48451071
|
G | A | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5545+1491C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48451071 | ||||||
| chr15:48451117
|
A | G | 31 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0004t0004g0017others(28): Show | 31 | HG00408.hp2 HG00544.hp1 HG01884.hp1 others(28): Show |
intron_variant | MODIFIER | c.5545+1445T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48451117 | ||||||
| chr15:48451661
|
G | A | 1 | a0001c0001t0001g0279 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.5545+901C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48451661 | ||||||
| chr15:48451672
|
C | T | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.5545+890G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48451672 | ||||||
| chr15:48451708
|
CAAT | C | 4 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135others(1): Show | 4 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.5545+851_5545+853d others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48451708 | ||||||
| chr15:48451723
|
C | T | 2 | a0001c0001t0002g0078a0001c0001t0002g0216 | 2 | HG02735.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.5545+839G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48451723 | ||||||
| chr15:48451787
|
T | C | 31 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0004t0004g0017others(28): Show | 31 | HG00408.hp2 HG00544.hp1 HG01884.hp1 others(28): Show |
intron_variant | MODIFIER | c.5545+775A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48451787 | ||||||
| chr15:48451808
|
T | C | 217 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(214): Show | 217 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(214): Show |
intron_variant | MODIFIER | c.5545+754A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48451808 | ||||||
| chr15:48451812
|
T | C | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.5545+750A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48451812 | ||||||
| chr15:48451981
|
T | C | 4 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135others(1): Show | 4 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.5545+581A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48451981 | ||||||
| chr15:48452081
|
T | C | 31 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0004t0004g0017others(28): Show | 31 | HG00408.hp2 HG00544.hp1 HG01884.hp1 others(28): Show |
intron_variant | MODIFIER | c.5545+481A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48452081 | ||||||
| chr15:48452292
|
C | A | 129 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(126): Show | 129 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(126): Show |
intron_variant | MODIFIER | c.5545+270G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 45/65 | chr15 | 48452292 | ||||||
| chr15:48452711
|
AAGG | A | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5423-30_5423-28del others(3): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48452711 | ||||||
| chr15:48453022
|
T | A | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5423-338A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453022 | ||||||
| chr15:48453031
|
C | T | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5423-347G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453031 | ||||||
| chr15:48453086
|
G | A | 1 | a0001c0001t0001g0236 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.5423-402C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453086 | ||||||
| chr15:48453110
|
G | A | 1 | a0002c0003t0006g0164 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.5423-426C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453110 | ||||||
| chr15:48453125
|
G | A | 126 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(123): Show | 126 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(123): Show |
intron_variant | MODIFIER | c.5423-441C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453125 | ||||||
| chr15:48453200
|
G | A | 1 | a0001c0025t0008g0203 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.5423-516C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453200 | ||||||
| chr15:48453282
|
A | C | 1 | a0001c0004t0004g0138 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.5423-598T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453282 | ||||||
| chr15:48453283
|
AATAAAAC others(49): Show |
A | 1 | a0001c0004t0004g0138 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.5423-655_5423-600d others(58): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453283 | ||||||
| chr15:48453290
|
C | A | 4 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135others(1): Show | 4 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.5423-606G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453290 | ||||||
| chr15:48453290
|
C | CA | 26 | a0001c0001t0001g0089a0001c0001t0001g0094a0001c0001t0001g0095others(23): Show | 26 | HG01123.hp2 HG01192.hp2 HG01516.hp1 others(23): Show |
intron_variant | MODIFIER | c.5423-607dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453290 | ||||||
| chr15:48453290
|
C | CAA | 3 | a0001c0001t0001g0088a0001c0001t0001g0093a0001c0001t0002g0087 | 3 | NA18945.hp1 NA18994.hp2 NA19087.hp1 |
intron_variant | MODIFIER | c.5423-608_5423-607d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453290 | ||||||
| chr15:48453290
|
CAAACAAA others(53): Show |
C | 28 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(25): Show | 28 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(25): Show |
intron_variant | MODIFIER | c.5423-666_5423-607d others(62): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453290 | ||||||
| chr15:48453292
|
AAC | A | 10 | a0001c0001t0001g0182a0001c0001t0001g0190a0001c0001t0009g0258others(7): Show | 10 | HG01243.hp1 HG01884.hp1 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.5423-610_5423-609d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453292 | ||||||
| chr15:48453293
|
A | AAC | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.5423-610_5423-609i others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453293 | ||||||
| chr15:48453293
|
AC | A | 85 | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0090others(82): Show | 85 | HG00408.hp1 HG00544.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.5423-610delG | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453293 | ||||||
| chr15:48453294
|
C | A | 54 | a0001c0001t0001g0001a0001c0001t0001g0088a0001c0001t0001g0089others(51): Show | 54 | HG00099.hp2 HG00673.hp2 HG01123.hp2 others(51): Show |
intron_variant | MODIFIER | c.5423-610G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453294 | ||||||
| chr15:48453294
|
C | CA | 36 | a0001c0001t0002g0091a0001c0001t0005g0221a0001c0001t0005g0223others(33): Show | 36 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(33): Show |
intron_variant | MODIFIER | c.5423-611dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453294 | ||||||
| chr15:48453294
|
CA | C | 34 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(31): Show | 34 | HG00642.hp2 HG01167.hp2 HG01361.hp1 others(31): Show |
intron_variant | MODIFIER | c.5423-611delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453294 | ||||||
| chr15:48453303
|
A | AC | 4 | a0001c0001t0002g0214a0001c0002t0001g0283a0001c0002t0002g0284others(1): Show | 4 | HG03130.hp2 HG03516.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.5423-620_5423-619i others(3): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453303 | ||||||
| chr15:48453303
|
A | C | 7 | a0001c0001t0019g0246a0001c0002t0007g0127a0001c0002t0008g0133others(4): Show | 7 | HG00099.hp2 HG01255.hp1 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.5423-619T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453303 | ||||||
| chr15:48453311
|
CA | C | 35 | a0001c0001t0005g0221a0001c0001t0005g0223a0001c0001t0010g0018others(32): Show | 35 | HG00597.hp1 HG01346.hp2 HG01884.hp1 others(32): Show |
intron_variant | MODIFIER | c.5423-628delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453311 | ||||||
| chr15:48453313
|
A | C | 2 | a0001c0005t0014g0196a0002c0003t0005g0281 | 2 | HG02615.hp1 NA18999.hp2 |
intron_variant | MODIFIER | c.5423-629T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453313 | ||||||
| chr15:48453322
|
G | C | 4 | a0001c0005t0007g0197a0001c0005t0007g0205a0001c0005t0007g0206others(1): Show | 4 | HG02723.hp2 HG02976.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.5423-638C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453322 | ||||||
| chr15:48453345
|
G | T | 1 | a0001c0004t0004g0138 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.5423-661C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453345 | ||||||
| chr15:48453348
|
G | A | 1 | a0001c0004t0004g0138 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.5423-664C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453348 | ||||||
| chr15:48453350
|
A | C | 1 | a0001c0004t0004g0138 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.5423-666T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453350 | ||||||
| chr15:48453353
|
AAG | A | 7 | a0001c0002t0007g0021a0001c0002t0007g0127a0001c0005t0007g0197others(4): Show | 7 | HG01255.hp1 HG02622.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.5423-671_5423-670d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453353 | ||||||
| chr15:48453379
|
C | T | 4 | a0001c0001t0002g0091a0001c0007t0002g0013a0001c0007t0002g0014others(1): Show | 4 | HG02258.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.5423-695G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453379 | ||||||
| chr15:48453404
|
C | T | 1 | a0001c0005t0014g0196 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5423-720G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453404 | ||||||
| chr15:48453483
|
A | AG | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5423-800dupC | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453483 | ||||||
| chr15:48453496
|
G | A | 3 | a0001c0002t0001g0283a0001c0002t0002g0282a0001c0002t0002g0284 | 3 | HG02630.hp1 HG03130.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.5423-812C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453496 | ||||||
| chr15:48453609
|
A | G | 1 | a0001c0001t0005g0141 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.5423-925T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453609 | ||||||
| chr15:48453709
|
G | A | 1 | a0001c0005t0014g0196 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5423-1025C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453709 | ||||||
| chr15:48453743
|
T | C | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.5423-1059A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453743 | ||||||
| chr15:48453853
|
A | G | 2 | a0001c0001t0010g0018a0001c0001t0010g0225 | 2 | HG01884.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.5423-1169T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453853 | ||||||
| chr15:48453864
|
G | A | 33 | a0001c0001t0005g0221a0001c0001t0005g0223a0001c0002t0018g0253others(30): Show | 33 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(30): Show |
intron_variant | MODIFIER | c.5423-1180C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453864 | ||||||
| chr15:48453961
|
A | G | 1 | a0001c0001t0001g0270 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.5423-1277T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48453961 | ||||||
| chr15:48454002
|
T | C | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.5423-1318A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48454002 | ||||||
| chr15:48454237
|
T | C | 4 | a0001c0004t0004g0053a0001c0004t0004g0058a0001c0004t0004g0059others(1): Show | 4 | NA18960.hp2 NA18982.hp2 NA19005.hp1 others(1): Show |
intron_variant | MODIFIER | c.5423-1553A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48454237 | ||||||
| chr15:48454388
|
T | C | 2 | a0001c0007t0002g0013a0001c0007t0002g0014 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.5423-1704A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48454388 | ||||||
| chr15:48454450
|
CAACAACA others(3): Show |
C | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5423-1776_5423-176 others(14): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48454450 | ||||||
| chr15:48454874
|
C | G | 2 | a0001c0001t0001g0235a0001c0001t0001g0249 | 2 | NA18944.hp1 NA18971.hp2 |
intron_variant | MODIFIER | c.5422+1763G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48454874 | ||||||
| chr15:48454891
|
A | G | 1 | a0002c0003t0005g0144 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.5422+1746T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48454891 | ||||||
| chr15:48454943
|
T | C | 1 | a0001c0005t0014g0196 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5422+1694A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48454943 | ||||||
| chr15:48455033
|
G | A | 36 | a0001c0001t0001g0128a0001c0001t0005g0221a0001c0001t0005g0223others(33): Show | 36 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(33): Show |
intron_variant | MODIFIER | c.5422+1604C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48455033 | ||||||
| chr15:48455166
|
T | C | 2 | a0001c0001t0001g0231a0011c0023t0001g0234 | 2 | HG00597.hp2 NA19077.hp1 |
intron_variant | MODIFIER | c.5422+1471A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48455166 | ||||||
| chr15:48455182
|
A | G | 4 | a0001c0001t0001g0229a0001c0001t0001g0247a0001c0001t0001g0259others(1): Show | 4 | HG01243.hp2 NA18995.hp1 NA19003.hp2 others(1): Show |
intron_variant | MODIFIER | c.5422+1455T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48455182 | ||||||
| chr15:48455243
|
C | T | 126 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(123): Show | 126 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(123): Show |
intron_variant | MODIFIER | c.5422+1394G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48455243 | ||||||
| chr15:48455334
|
G | C | 1 | a0001c0004t0004g0138 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.5422+1303C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48455334 | ||||||
| chr15:48455444
|
G | T | 4 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135others(1): Show | 4 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.5422+1193C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48455444 | ||||||
| chr15:48455459
|
C | T | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.5422+1178G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48455459 | ||||||
| chr15:48455509
|
C | A | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.5422+1128G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48455509 | ||||||
| chr15:48455552
|
C | T | 1 | a0001c0002t0023g0034 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.5422+1085G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48455552 | ||||||
| chr15:48455668
|
G | A | 24 | a0001c0001t0002g0214a0001c0001t0005g0136a0001c0001t0005g0141others(21): Show | 24 | HG01255.hp1 HG02257.hp1 HG02451.hp1 others(21): Show |
intron_variant | MODIFIER | c.5422+969C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48455668 | ||||||
| chr15:48455824
|
T | C | 4 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135others(1): Show | 4 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.5422+813A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48455824 | ||||||
| chr15:48455847
|
T | A | 1 | a0001c0001t0001g0095 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.5422+790A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48455847 | ||||||
| chr15:48455979
|
G | A | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.5422+658C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48455979 | ||||||
| chr15:48456065
|
G | A | 33 | a0001c0001t0005g0221a0001c0001t0005g0223a0001c0002t0018g0253others(30): Show | 33 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(30): Show |
intron_variant | MODIFIER | c.5422+572C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48456065 | ||||||
| chr15:48456083
|
C | T | 1 | a0001c0005t0014g0196 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5422+554G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48456083 | ||||||
| chr15:48456090
|
C | T | 3 | a0002c0003t0006g0158a0002c0003t0006g0160a0002c0003t0006g0161 | 3 | NA18944.hp2 NA18994.hp1 NA18995.hp2 |
intron_variant | MODIFIER | c.5422+547G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48456090 | ||||||
| chr15:48456193
|
G | A | 1 | a0001c0001t0001g0260 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.5422+444C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48456193 | ||||||
| chr15:48456269
|
G | T | 1 | a0001c0001t0019g0246 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.5422+368C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48456269 | ||||||
| chr15:48456364
|
T | A | 2 | a0001c0007t0002g0013a0001c0007t0002g0014 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.5422+273A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48456364 | ||||||
| chr15:48456386
|
G | A | 2 | a0001c0001t0005g0141a0005c0016t0011g0123 | 2 | HG02451.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.5422+251C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48456386 | ||||||
| chr15:48456447
|
T | A | 33 | a0001c0001t0005g0221a0001c0001t0005g0223a0001c0002t0018g0253others(30): Show | 33 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(30): Show |
intron_variant | MODIFIER | c.5422+190A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48456447 | ||||||
| chr15:48456468
|
A | AT | 63 | a0001c0001t0005g0221a0001c0001t0005g0223a0001c0001t0011g0007others(60): Show | 63 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(60): Show |
intron_variant | MODIFIER | c.5422+168dupA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 44/65 | chr15 | 48456468 | ||||||
| chr15:48456843
|
C | CGT | 8 | a0001c0001t0001g0270a0001c0001t0009g0273a0001c0001t0009g0274others(5): Show | 8 | HG01243.hp1 HG02572.hp1 HG02738.hp2 others(5): Show |
intron_variant | MODIFIER | c.5297-83_5297-82dup others(2): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48456843 | ||||||
| chr15:48456843
|
C | CGTGCGTG others(5): Show |
1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.5297-82_5297-81ins others(12): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48456843 | ||||||
| chr15:48456843
|
C | CGTGCGTG others(9): Show |
1 | a0001c0001t0010g0225 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.5297-82_5297-81ins others(16): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48456843 | ||||||
| chr15:48456843
|
C | CGTGT | 116 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(113): Show | 116 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(113): Show |
intron_variant | MODIFIER | c.5297-85_5297-82dup others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48456843 | ||||||
| chr15:48456843
|
C | CGTGTGT | 12 | a0001c0001t0001g0130a0001c0001t0001g0237a0001c0001t0001g0249others(9): Show | 12 | HG01258.hp2 HG02258.hp2 HG02809.hp2 others(9): Show |
intron_variant | MODIFIER | c.5297-87_5297-82dup others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48456843 | ||||||
| chr15:48456843
|
C | CGTGTGTG others(1): Show |
13 | a0001c0001t0001g0104a0001c0001t0001g0177a0001c0001t0001g0188others(10): Show | 13 | HG00621.hp2 HG02280.hp1 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.5297-89_5297-82dup others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48456843 | ||||||
| chr15:48456843
|
C | CGTGTGTG others(3): Show |
31 | a0001c0001t0001g0096a0001c0001t0001g0098a0001c0001t0001g0102others(28): Show | 31 | HG00408.hp2 HG01123.hp2 HG01192.hp2 others(28): Show |
intron_variant | MODIFIER | c.5297-91_5297-82dup others(10): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48456843 | ||||||
| chr15:48456843
|
C | CGTGTGTG others(5): Show |
32 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0092others(29): Show | 32 | HG00544.hp1 HG00642.hp2 HG00673.hp2 others(29): Show |
intron_variant | MODIFIER | c.5297-93_5297-82dup others(12): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48456843 | ||||||
| chr15:48456843
|
C | CGTGTGTG others(7): Show |
9 | a0001c0001t0001g0100a0001c0001t0001g0117a0001c0001t0001g0119others(6): Show | 9 | HG01517.hp2 HG02523.hp2 HG02735.hp1 others(6): Show |
intron_variant | MODIFIER | c.5297-95_5297-82dup others(14): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48456843 | ||||||
| chr15:48456843
|
C | CGTGTGTG others(9): Show |
21 | a0001c0001t0001g0228a0001c0001t0002g0003a0001c0001t0002g0071others(18): Show | 21 | HG01167.hp2 HG01884.hp2 HG01981.hp1 others(18): Show |
intron_variant | MODIFIER | c.5297-97_5297-82dup others(16): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48456843 | ||||||
| chr15:48456843
|
C | CGTGTGTG others(11): Show |
6 | a0001c0001t0002g0075a0001c0001t0002g0216a0001c0002t0002g0005others(3): Show | 6 | HG02970.hp2 HG03098.hp1 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.5297-99_5297-82dup others(18): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48456843 | ||||||
| chr15:48456843
|
C | CGTGTGTG others(13): Show |
4 | a0001c0002t0002g0125a0001c0004t0010g0012a0001c0024t0010g0195others(1): Show | 4 | HG02257.hp2 HG02809.hp1 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.5297-101_5297-82du others(21): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48456843 | ||||||
| chr15:48456843
|
C | CGTGTGTG others(15): Show |
1 | a0001c0002t0002g0006 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.5297-103_5297-82du others(23): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48456843 | ||||||
| chr15:48456843
|
C | CGTGTGTG others(17): Show |
1 | a0001c0002t0002g0126 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.5297-105_5297-82du others(25): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48456843 | ||||||
| chr15:48456868
|
G | C | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.5297-106C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48456868 | ||||||
| chr15:48456871
|
T | TGTGTGTG others(9): Show |
1 | a0001c0001t0002g0073 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.5297-110_5297-109i others(18): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48456871 | ||||||
| chr15:48456873
|
C | T | 1 | a0001c0004t0022g0139 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.5297-111G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48456873 | ||||||
| chr15:48456874
|
G | A | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.5297-112C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48456874 | ||||||
| chr15:48456948
|
C | T | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.5297-186G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48456948 | ||||||
| chr15:48457090
|
A | G | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.5297-328T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48457090 | ||||||
| chr15:48457134
|
C | A | 7 | a0001c0002t0007g0021a0001c0002t0007g0127a0001c0005t0007g0197others(4): Show | 7 | HG01255.hp1 HG02622.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.5297-372G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48457134 | ||||||
| chr15:48457137
|
A | G | 4 | a0001c0001t0002g0091a0001c0007t0002g0013a0001c0007t0002g0014others(1): Show | 4 | HG02258.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.5297-375T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48457137 | ||||||
| chr15:48457309
|
G | A | 1 | a0001c0001t0019g0246 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.5297-547C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48457309 | ||||||
| chr15:48457376
|
G | A | 1 | a0001c0001t0001g0240 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.5297-614C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48457376 | ||||||
| chr15:48457506
|
T | C | 261 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(258): Show | 261 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(258): Show |
intron_variant | MODIFIER | c.5297-744A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48457506 | ||||||
| chr15:48457783
|
C | T | 2 | a0001c0001t0010g0018a0001c0001t0010g0225 | 2 | HG01884.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.5297-1021G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48457783 | ||||||
| chr15:48458046
|
G | A | 1 | a0002c0003t0005g0142 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.5297-1284C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48458046 | ||||||
| chr15:48458130
|
G | A | 1 | a0001c0001t0001g0270 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.5297-1368C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48458130 | ||||||
| chr15:48458235
|
C | G | 1 | a0001c0002t0002g0085 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.5297-1473G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48458235 | ||||||
| chr15:48458240
|
G | C | 1 | a0001c0001t0001g0243 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.5297-1478C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48458240 | ||||||
| chr15:48458323
|
C | A | 130 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(127): Show | 130 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(127): Show |
intron_variant | MODIFIER | c.5297-1561G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48458323 | ||||||
| chr15:48458327
|
T | TC | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5297-1566_5297-156 others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48458327 | ||||||
| chr15:48458328
|
T | A | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5297-1566A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48458328 | ||||||
| chr15:48458339
|
T | C | 1 | a0002c0003t0005g0144 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.5297-1577A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48458339 | ||||||
| chr15:48458433
|
T | C | 2 | a0002c0003t0002g0147a0002c0003t0002g0148 | 2 | NA18956.hp1 NA19081.hp1 |
intron_variant | MODIFIER | c.5297-1671A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48458433 | ||||||
| chr15:48458441
|
G | C | 3 | a0001c0001t0001g0128a0001c0002t0001g0022a0010c0020t0001g0129 | 3 | HG02717.hp1 HG03209.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.5297-1679C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48458441 | ||||||
| chr15:48458659
|
A | G | 31 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0004t0004g0017others(28): Show | 31 | HG00408.hp2 HG00544.hp1 HG01884.hp1 others(28): Show |
intron_variant | MODIFIER | c.5296+1587T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48458659 | ||||||
| chr15:48458735
|
A | C | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5296+1511T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48458735 | ||||||
| chr15:48459027
|
C | T | 1 | a0001c0001t0001g0100 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.5296+1219G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48459027 | ||||||
| chr15:48459067
|
C | G | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.5296+1179G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48459067 | ||||||
| chr15:48459099
|
T | G | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.5296+1147A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48459099 | ||||||
| chr15:48459123
|
G | A | 4 | a0001c0002t0003g0030a0001c0002t0003g0031a0001c0002t0003g0032others(1): Show | 4 | HG01106.hp1 HG01361.hp2 HG01516.hp2 others(1): Show |
intron_variant | MODIFIER | c.5296+1123C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48459123 | ||||||
| chr15:48459132
|
C | G | 162 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(159): Show | 162 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(159): Show |
intron_variant | MODIFIER | c.5296+1114G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48459132 | ||||||
| chr15:48459231
|
C | G | 3 | a0001c0005t0003g0208a0001c0005t0003g0209a0001c0005t0003g0210 | 3 | HG02965.hp2 HG02970.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.5296+1015G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48459231 | ||||||
| chr15:48459556
|
C | A | 3 | a0001c0005t0003g0208a0001c0005t0003g0209a0001c0005t0003g0210 | 3 | HG02965.hp2 HG02970.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.5296+690G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48459556 | ||||||
| chr15:48459650
|
G | A | 2 | a0001c0001t0008g0121a0001c0025t0008g0203 | 2 | HG02622.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.5296+596C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48459650 | ||||||
| chr15:48459755
|
C | T | 2 | a0001c0001t0010g0018a0001c0001t0010g0225 | 2 | HG01884.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.5296+491G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48459755 | ||||||
| chr15:48459815
|
T | C | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5296+431A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48459815 | ||||||
| chr15:48460004
|
A | G | 3 | a0001c0002t0001g0283a0001c0002t0002g0282a0001c0002t0002g0284 | 3 | HG02630.hp1 HG03130.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.5296+242T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48460004 | ||||||
| chr15:48460059
|
T | C | 33 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(30): Show | 33 | HG00408.hp2 HG00544.hp1 HG01243.hp1 others(30): Show |
intron_variant | MODIFIER | c.5296+187A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48460059 | ||||||
| chr15:48460081
|
C | T | 33 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(30): Show | 33 | HG00408.hp2 HG00544.hp1 HG01243.hp1 others(30): Show |
intron_variant | MODIFIER | c.5296+165G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48460081 | ||||||
| chr15:48460232
|
C | T | 1 | a0001c0001t0001g0266 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.5296+14G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48460232 | ||||||
| chr15:48460234
|
G | A | 1 | a0001c0004t0004g0017 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.5296+12C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | 48460234 | ||||||
| chr15:48460380
|
T | G | 1 | a0001c0004t0004g0063 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.5225-63A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48460380 | ||||||
| chr15:48460395
|
T | G | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.5225-78A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48460395 | ||||||
| chr15:48460449
|
G | C | 1 | a0001c0001t0001g0093 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.5225-132C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48460449 | ||||||
| chr15:48460525
|
G | A | 1 | a0001c0002t0023g0034 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.5225-208C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48460525 | ||||||
| chr15:48460537
|
G | A | 2 | a0001c0001t0008g0121a0001c0025t0008g0203 | 2 | HG02622.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.5225-220C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48460537 | ||||||
| chr15:48460712
|
C | T | 4 | a0001c0001t0001g0265a0001c0001t0001g0269a0001c0001t0001g0272others(1): Show | 4 | HG00544.hp2 HG01257.hp1 NA18986.hp2 others(1): Show |
intron_variant | MODIFIER | c.5225-395G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48460712 | ||||||
| chr15:48460803
|
C | G | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.5225-486G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48460803 | ||||||
| chr15:48460941
|
C | G | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.5225-624G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48460941 | ||||||
| chr15:48460948
|
C | A | 126 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(123): Show | 126 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(123): Show |
intron_variant | MODIFIER | c.5225-631G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48460948 | ||||||
| chr15:48460960
|
C | G | 7 | a0001c0002t0007g0021a0001c0002t0007g0127a0001c0005t0007g0197others(4): Show | 7 | HG01255.hp1 HG02622.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.5225-643G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48460960 | ||||||
| chr15:48461041
|
A | C | 33 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(30): Show | 33 | HG00408.hp2 HG00544.hp1 HG01243.hp1 others(30): Show |
intron_variant | MODIFIER | c.5225-724T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48461041 | ||||||
| chr15:48461057
|
C | T | 1 | a0001c0001t0001g0119 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.5225-740G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48461057 | ||||||
| chr15:48461427
|
C | A | 127 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(124): Show | 127 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(124): Show |
intron_variant | MODIFIER | c.5225-1110G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48461427 | ||||||
| chr15:48461534
|
T | G | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.5225-1217A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48461534 | ||||||
| chr15:48461558
|
CATACATA others(7): Show |
C | 8 | a0001c0001t0002g0214a0001c0002t0007g0021a0001c0002t0007g0127others(5): Show | 8 | HG01255.hp1 HG02622.hp2 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.5225-1255_5225-124 others(18): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48461558 | ||||||
| chr15:48461925
|
G | T | 126 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(123): Show | 126 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(123): Show |
intron_variant | MODIFIER | c.5224+1157C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48461925 | ||||||
| chr15:48461930
|
C | T | 33 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(30): Show | 33 | HG00408.hp2 HG00544.hp1 HG01243.hp1 others(30): Show |
intron_variant | MODIFIER | c.5224+1152G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48461930 | ||||||
| chr15:48462104
|
T | C | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.5224+978A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48462104 | ||||||
| chr15:48462147
|
A | G | 1 | a0001c0001t0001g0235 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.5224+935T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48462147 | ||||||
| chr15:48462216
|
C | T | 1 | a0001c0002t0003g0024 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.5224+866G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48462216 | ||||||
| chr15:48462321
|
T | C | 4 | a0001c0001t0005g0136a0001c0001t0005g0280a0003c0008t0005g0015others(1): Show | 4 | HG02257.hp1 HG02572.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.5224+761A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48462321 | ||||||
| chr15:48462351
|
C | CT | 12 | a0001c0001t0002g0080a0001c0001t0002g0091a0001c0001t0011g0007others(9): Show | 12 | HG01243.hp1 HG02258.hp2 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.5224+730dupA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48462351 | ||||||
| chr15:48462351
|
CT | C | 130 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(127): Show | 130 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(127): Show |
intron_variant | MODIFIER | c.5224+730delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48462351 | ||||||
| chr15:48462479
|
T | C | 2 | a0001c0001t0009g0273a0001c0001t0009g0274 | 2 | NA19012.hp1 NA19080.hp1 |
intron_variant | MODIFIER | c.5224+603A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48462479 | ||||||
| chr15:48462571
|
A | AG | 287 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(284): Show | 287 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(284): Show |
intron_variant | MODIFIER | c.5224+510dupC | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48462571 | ||||||
| chr15:48462615
|
C | A | 2 | a0001c0001t0005g0141a0005c0016t0011g0123 | 2 | HG02451.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.5224+467G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48462615 | ||||||
| chr15:48462763
|
AT | A | 4 | a0001c0001t0005g0136a0001c0001t0005g0280a0003c0008t0005g0015others(1): Show | 4 | HG02257.hp1 HG02572.hp2 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.5224+318delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48462763 | ||||||
| chr15:48462835
|
T | C | 1 | a0001c0004t0004g0137 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.5224+247A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48462835 | ||||||
| chr15:48462904
|
T | G | 1 | a0001c0001t0002g0079 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.5224+178A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48462904 | ||||||
| chr15:48462921
|
G | A | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.5224+161C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48462921 | ||||||
| chr15:48462922
|
G | T | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.5224+160C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48462922 | ||||||
| chr15:48462971
|
T | C | 128 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(125): Show | 128 | HG00099.hp1 HG00597.hp1 HG00642.hp1 others(125): Show |
intron_variant | MODIFIER | c.5224+111A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 42/65 | chr15 | 48462971 | ||||||
| chr15:48463253
|
T | TA | 33 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(30): Show | 33 | HG00408.hp2 HG00544.hp1 HG01243.hp1 others(30): Show |
intron_variant | MODIFIER | c.5066-14dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 41/65 | chr15 | 48463253 | ||||||
| chr15:48463275
|
G | A | 9 | a0001c0001t0002g0071a0001c0001t0002g0072a0001c0001t0002g0074others(6): Show | 9 | HG00642.hp2 HG01517.hp2 HG01981.hp1 others(6): Show |
intron_variant | MODIFIER | c.5066-35C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 41/65 | chr15 | 48463275 | ||||||
| chr15:48463333
|
T | C | 26 | a0001c0001t0002g0214a0001c0001t0005g0136a0001c0001t0005g0141others(23): Show | 26 | HG01255.hp1 HG01884.hp1 HG02257.hp1 others(23): Show |
intron_variant | MODIFIER | c.5066-93A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 41/65 | chr15 | 48463333 | ||||||
| chr15:48463337
|
T | C | 7 | a0001c0004t0004g0053a0001c0004t0004g0058a0001c0004t0004g0059others(4): Show | 7 | NA18946.hp2 NA18960.hp2 NA18982.hp2 others(4): Show |
intron_variant | MODIFIER | c.5066-97A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 41/65 | chr15 | 48463337 | ||||||
| chr15:48463415
|
T | C | 1 | a0001c0005t0014g0196 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5066-175A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 41/65 | chr15 | 48463415 | ||||||
| chr15:48463522
|
T | C | 3 | a0001c0001t0001g0230a0001c0001t0001g0239a0001c0001t0001g0271 | 3 | HG01175.hp1 HG04204.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.5066-282A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 41/65 | chr15 | 48463522 | ||||||
| chr15:48463617
|
T | C | 39 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(36): Show | 39 | HG00642.hp2 HG01167.hp2 HG01361.hp1 others(36): Show |
intron_variant | MODIFIER | c.5065+282A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 41/65 | chr15 | 48463617 | ||||||
| chr15:48463715
|
A | C | 5 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0107others(2): Show | 5 | HG01928.hp2 HG02155.hp1 HG04115.hp2 others(2): Show |
intron_variant | MODIFIER | c.5065+184T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 41/65 | chr15 | 48463715 | ||||||
| chr15:48464069
|
T | G | 2 | a0001c0002t0003g0032a0001c0002t0003g0033 | 2 | HG01516.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.4943-48A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 40/65 | chr15 | 48464069 | ||||||
| chr15:48464085
|
C | T | 4 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135others(1): Show | 4 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.4943-64G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 40/65 | chr15 | 48464085 | ||||||
| chr15:48464090
|
T | C | 5 | a0001c0001t0005g0136a0001c0001t0005g0280a0001c0001t0008g0121others(2): Show | 5 | HG02257.hp1 HG02572.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.4943-69A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 40/65 | chr15 | 48464090 | ||||||
| chr15:48464190
|
T | C | 33 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(30): Show | 33 | HG00408.hp2 HG00544.hp1 HG01243.hp1 others(30): Show |
intron_variant | MODIFIER | c.4943-169A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 40/65 | chr15 | 48464190 | ||||||
| chr15:48464339
|
C | G | 26 | a0001c0002t0003g0024a0001c0002t0003g0025a0001c0002t0003g0026others(23): Show | 26 | HG00099.hp1 HG00642.hp1 HG00741.hp2 others(23): Show |
intron_variant | MODIFIER | c.4943-318G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 40/65 | chr15 | 48464339 | ||||||
| chr15:48464372
|
G | T | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.4943-351C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 40/65 | chr15 | 48464372 | ||||||
| chr15:48464383
|
C | G | 33 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(30): Show | 33 | HG00408.hp2 HG00544.hp1 HG01243.hp1 others(30): Show |
intron_variant | MODIFIER | c.4943-362G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 40/65 | chr15 | 48464383 | ||||||
| chr15:48464516
|
G | A | 1 | a0001c0005t0007g0207 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4943-495C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 40/65 | chr15 | 48464516 | ||||||
| chr15:48464616
|
C | T | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.4943-595G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 40/65 | chr15 | 48464616 | ||||||
| chr15:48464726
|
G | T | 1 | a0001c0001t0002g0080 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.4943-705C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 40/65 | chr15 | 48464726 | ||||||
| chr15:48464876
|
A | C | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.4942+692T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 40/65 | chr15 | 48464876 | ||||||
| chr15:48464998
|
A | G | 161 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(158): Show | 161 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(158): Show |
intron_variant | MODIFIER | c.4942+570T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 40/65 | chr15 | 48464998 | ||||||
| chr15:48465263
|
T | C | 161 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(158): Show | 161 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(158): Show |
intron_variant | MODIFIER | c.4942+305A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 40/65 | chr15 | 48465263 | ||||||
| chr15:48465467
|
T | A | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.4942+101A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 40/65 | chr15 | 48465467 | ||||||
| chr15:48465512
|
T | G | 2 | a0002c0009t0001g0211a0002c0009t0001g0212 | 2 | HG02809.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.4942+56A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 40/65 | chr15 | 48465512 | ||||||
| chr15:48465935
|
A | C | 71 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0092others(68): Show | 71 | HG00621.hp2 HG00642.hp2 HG00673.hp2 others(68): Show |
intron_variant | MODIFIER | c.4748-77T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48465935 | ||||||
| chr15:48465956
|
C | T | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.4748-98G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48465956 | ||||||
| chr15:48465988
|
C | G | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.4748-130G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48465988 | ||||||
| chr15:48466043
|
T | C | 1 | a0001c0002t0002g0006 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.4748-185A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48466043 | ||||||
| chr15:48466330
|
T | C | 39 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(36): Show | 39 | HG00642.hp2 HG01167.hp2 HG01361.hp1 others(36): Show |
intron_variant | MODIFIER | c.4748-472A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48466330 | ||||||
| chr15:48466501
|
A | G | 3 | a0001c0001t0012g0113a0001c0001t0012g0114a0007c0019t0012g0115 | 3 | HG01167.hp1 NA18522.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.4748-643T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48466501 | ||||||
| chr15:48466503
|
G | A | 4 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135others(1): Show | 4 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.4748-645C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48466503 | ||||||
| chr15:48466526
|
A | T | 1 | a0001c0002t0008g0135 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.4748-668T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48466526 | ||||||
| chr15:48466585
|
C | T | 1 | a0001c0001t0024g0112 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.4748-727G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48466585 | ||||||
| chr15:48466714
|
TGTTTTGC others(7): Show |
T | 1 | a0001c0001t0001g0254 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.4748-870_4748-857d others(16): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48466714 | ||||||
| chr15:48466817
|
G | T | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.4748-959C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48466817 | ||||||
| chr15:48466950
|
G | A | 33 | a0001c0001t0005g0221a0001c0001t0005g0223a0001c0002t0018g0253others(30): Show | 33 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(30): Show |
intron_variant | MODIFIER | c.4747+988C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48466950 | ||||||
| chr15:48466951
|
A | T | 33 | a0001c0001t0005g0221a0001c0001t0005g0223a0001c0002t0018g0253others(30): Show | 33 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(30): Show |
intron_variant | MODIFIER | c.4747+987T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48466951 | ||||||
| chr15:48467003
|
A | C | 33 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(30): Show | 33 | HG00408.hp2 HG00544.hp1 HG01243.hp1 others(30): Show |
intron_variant | MODIFIER | c.4747+935T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48467003 | ||||||
| chr15:48467094
|
G | T | 159 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(156): Show | 159 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(156): Show |
intron_variant | MODIFIER | c.4747+844C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48467094 | ||||||
| chr15:48467121
|
C | A | 7 | a0001c0002t0002g0084a0001c0002t0002g0125a0001c0002t0002g0126others(4): Show | 7 | HG01884.hp2 HG02257.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.4747+817G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48467121 | ||||||
| chr15:48467144
|
T | C | 2 | a0001c0001t0010g0018a0001c0001t0010g0225 | 2 | HG01884.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.4747+794A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48467144 | ||||||
| chr15:48467291
|
T | C | 1 | a0001c0001t0002g0081 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.4747+647A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48467291 | ||||||
| chr15:48467378
|
G | A | 2 | a0001c0002t0003g0032a0001c0002t0003g0033 | 2 | HG01516.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.4747+560C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48467378 | ||||||
| chr15:48467505
|
G | A | 1 | a0001c0004t0004g0105 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.4747+433C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48467505 | ||||||
| chr15:48467590
|
C | T | 2 | a0001c0001t0010g0018a0001c0001t0010g0225 | 2 | HG01884.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.4747+348G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48467590 | ||||||
| chr15:48467598
|
C | T | 7 | a0001c0001t0005g0136a0001c0001t0005g0141a0001c0001t0005g0280others(4): Show | 7 | HG02257.hp1 HG02451.hp1 HG02572.hp2 others(4): Show |
intron_variant | MODIFIER | c.4747+340G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48467598 | ||||||
| chr15:48467796
|
AT | A | 56 | a0001c0001t0002g0214a0001c0001t0005g0136a0001c0001t0005g0141others(53): Show | 56 | HG00597.hp1 HG01255.hp1 HG01346.hp2 others(53): Show |
intron_variant | MODIFIER | c.4747+141delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48467796 | ||||||
| chr15:48467870
|
G | A | 33 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(30): Show | 33 | HG00408.hp2 HG00544.hp1 HG01243.hp1 others(30): Show |
intron_variant | MODIFIER | c.4747+68C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 38/65 | chr15 | 48467870 | ||||||
| chr15:48468194
|
G | A | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.4583-92C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 37/65 | chr15 | 48468194 | ||||||
| chr15:48468262
|
T | C | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.4582+150A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 37/65 | chr15 | 48468262 | ||||||
| chr15:48468348
|
T | C | 33 | a0001c0001t0005g0221a0001c0001t0005g0223a0001c0002t0018g0253others(30): Show | 33 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(30): Show |
intron_variant | MODIFIER | c.4582+64A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 37/65 | chr15 | 48468348 | ||||||
| chr15:48468553
|
T | C | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.4460-19A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48468553 | ||||||
| chr15:48468657
|
C | T | 1 | a0001c0005t0003g0208 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.4460-123G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48468657 | ||||||
| chr15:48468700
|
G | A | 26 | a0001c0002t0003g0024a0001c0002t0003g0025a0001c0002t0003g0026others(23): Show | 26 | HG00099.hp1 HG00642.hp1 HG00741.hp2 others(23): Show |
intron_variant | MODIFIER | c.4460-166C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48468700 | ||||||
| chr15:48468715
|
A | ATAGTCTT others(43): Show |
2 | a0001c0001t0010g0018a0001c0001t0010g0225 | 2 | HG01884.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.4460-182_4460-181i others(52): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48468715 | ||||||
| chr15:48468796
|
C | T | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.4460-262G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48468796 | ||||||
| chr15:48468845
|
G | A | 1 | a0001c0001t0001g0172 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.4460-311C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48468845 | ||||||
| chr15:48468919
|
T | G | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.4460-385A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48468919 | ||||||
| chr15:48468929
|
G | T | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.4460-395C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48468929 | ||||||
| chr15:48468943
|
C | T | 1 | a0001c0002t0003g0044 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.4460-409G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48468943 | ||||||
| chr15:48468999
|
C | T | 124 | a0001c0001t0002g0091a0001c0001t0002g0214a0001c0001t0005g0136others(121): Show | 124 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(121): Show |
intron_variant | MODIFIER | c.4460-465G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48468999 | ||||||
| chr15:48469067
|
C | CA | 25 | a0001c0001t0001g0093a0001c0001t0001g0100a0001c0001t0001g0119others(22): Show | 25 | HG01361.hp1 HG01517.hp2 HG02280.hp1 others(22): Show |
intron_variant | MODIFIER | c.4460-534dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469067 | ||||||
| chr15:48469067
|
CA | C | 27 | a0001c0004t0004g0048a0001c0004t0004g0049a0001c0004t0004g0052others(24): Show | 27 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(24): Show |
intron_variant | MODIFIER | c.4460-534delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469067 | ||||||
| chr15:48469067
|
CAAA | C | 32 | a0001c0001t0005g0221a0001c0001t0005g0223a0001c0002t0018g0253others(29): Show | 32 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(29): Show |
intron_variant | MODIFIER | c.4460-536_4460-534d others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469067 | ||||||
| chr15:48469079
|
A | AT | 14 | a0001c0001t0001g0103a0001c0001t0001g0106a0001c0001t0001g0110others(11): Show | 14 | HG00642.hp2 HG01175.hp1 HG01257.hp2 others(11): Show |
intron_variant | MODIFIER | c.4460-546_4460-545i others(3): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469079 | ||||||
| chr15:48469079
|
A | T | 43 | a0001c0001t0001g0002a0001c0001t0001g0217a0001c0001t0001g0266others(40): Show | 43 | HG00099.hp1 HG00642.hp1 HG00741.hp2 others(40): Show |
intron_variant | MODIFIER | c.4460-545T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469079 | ||||||
| chr15:48469080
|
A | AAAATATA others(23): Show |
1 | a0001c0024t0010g0195 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.4460-547_4460-546i others(32): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469080 | ||||||
| chr15:48469080
|
A | AAATATAT others(22): Show |
1 | a0001c0001t0003g0224 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.4460-547_4460-546i others(31): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469080 | ||||||
| chr15:48469080
|
A | AATATATA others(23): Show |
30 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0092others(27): Show | 30 | HG00621.hp2 HG00673.hp2 HG01123.hp2 others(27): Show |
intron_variant | MODIFIER | c.4460-547_4460-546i others(32): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469080 | ||||||
| chr15:48469080
|
AT | A | 10 | a0001c0001t0005g0136a0001c0001t0005g0280a0001c0001t0008g0121others(7): Show | 10 | HG02257.hp1 HG02523.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.4460-547delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469080 | ||||||
| chr15:48469081
|
T | A | 2 | a0001c0001t0002g0072a0005c0016t0011g0123 | 2 | HG01517.hp2 HG02451.hp1 |
intron_variant | MODIFIER | c.4460-547A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469081 | ||||||
| chr15:48469083
|
T | A | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.4460-549A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469083 | ||||||
| chr15:48469083
|
T | C | 32 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0092others(29): Show | 32 | HG00621.hp2 HG00673.hp2 HG01123.hp2 others(29): Show |
intron_variant | MODIFIER | c.4460-549A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469083 | ||||||
| chr15:48469083
|
T | TATATATA others(22): Show |
11 | a0001c0001t0001g0093a0001c0001t0001g0100a0001c0001t0001g0103others(8): Show | 11 | HG01257.hp2 HG01258.hp1 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.4460-578_4460-550d others(31): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469083 | ||||||
| chr15:48469084
|
ATATATAT others(19): Show |
A | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.4460-576_4460-551d others(28): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469084 | ||||||
| chr15:48469085
|
TATATATA others(20): Show |
T | 68 | a0001c0001t0002g0091a0001c0001t0002g0214a0001c0001t0005g0141others(65): Show | 68 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(65): Show |
intron_variant | MODIFIER | c.4460-578_4460-552d others(29): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469085 | ||||||
| chr15:48469087
|
TATATATA others(18): Show |
T | 10 | a0001c0001t0005g0136a0001c0001t0005g0280a0001c0001t0008g0121others(7): Show | 10 | HG01884.hp1 HG02257.hp1 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.4460-578_4460-554d others(27): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469087 | ||||||
| chr15:48469089
|
TATATAAA others(16): Show |
T | 31 | a0001c0002t0003g0027a0001c0002t0003g0044a0001c0002t0018g0253others(28): Show | 31 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(28): Show |
intron_variant | MODIFIER | c.4460-578_4460-556d others(25): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469089 | ||||||
| chr15:48469091
|
TATAAAAT others(14): Show |
T | 3 | a0001c0001t0005g0221a0001c0001t0005g0223a0002c0003t0005g0175 | 3 | HG02056.hp2 HG02165.hp2 NA18943.hp2 |
intron_variant | MODIFIER | c.4460-578_4460-558d others(23): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469091 | ||||||
| chr15:48469112
|
C | CATATATA others(28): Show |
4 | a0001c0005t0007g0197a0001c0005t0007g0205a0001c0005t0007g0206others(1): Show | 4 | HG02723.hp2 HG02976.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.4460-579_4460-578i others(37): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469112 | ||||||
| chr15:48469112
|
C | CATATATA others(57): Show |
1 | a0001c0005t0007g0200 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.4460-579_4460-578i others(66): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469112 | ||||||
| chr15:48469112
|
C | CATATATA others(61): Show |
1 | a0001c0002t0007g0127 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.4460-579_4460-578i others(70): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469112 | ||||||
| chr15:48469112
|
C | T | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.4460-578G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469112 | ||||||
| chr15:48469124
|
A | T | 4 | a0001c0001t0002g0079a0001c0005t0013g0199a0001c0006t0013g0215others(1): Show | 4 | HG01981.hp1 HG02922.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.4460-590T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469124 | ||||||
| chr15:48469238
|
A | G | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.4460-704T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469238 | ||||||
| chr15:48469242
|
G | A | 3 | a0001c0005t0013g0199a0001c0006t0013g0215a0001c0022t0013g0010 | 3 | HG02922.hp2 HG03041.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.4460-708C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469242 | ||||||
| chr15:48469389
|
A | T | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.4460-855T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469389 | ||||||
| chr15:48469549
|
T | C | 1 | a0001c0002t0003g0082 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.4460-1015A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469549 | ||||||
| chr15:48469801
|
G | T | 4 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135others(1): Show | 4 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.4459+833C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469801 | ||||||
| chr15:48469873
|
T | A | 5 | a0001c0001t0005g0136a0001c0001t0005g0280a0001c0001t0008g0121others(2): Show | 5 | HG02257.hp1 HG02572.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.4459+761A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469873 | ||||||
| chr15:48469967
|
G | A | 1 | a0001c0025t0008g0203 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.4459+667C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48469967 | ||||||
| chr15:48470023
|
G | C | 47 | a0001c0001t0002g0091a0001c0001t0002g0214a0001c0001t0005g0136others(44): Show | 47 | HG00408.hp2 HG00544.hp1 HG01884.hp1 others(44): Show |
intron_variant | MODIFIER | c.4459+611C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48470023 | ||||||
| chr15:48470096
|
G | A | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.4459+538C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48470096 | ||||||
| chr15:48470204
|
G | C | 2 | a0001c0001t0010g0018a0001c0001t0010g0225 | 2 | HG01884.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.4459+430C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48470204 | ||||||
| chr15:48470264
|
C | T | 1 | a0001c0001t0001g0117 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.4459+370G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48470264 | ||||||
| chr15:48470311
|
C | T | 32 | a0001c0001t0005g0221a0001c0001t0005g0223a0002c0003t0001g0162others(29): Show | 32 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(29): Show |
intron_variant | MODIFIER | c.4459+323G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48470311 | ||||||
| chr15:48470573
|
T | G | 1 | a0001c0002t0008g0133 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.4459+61A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | 48470573 | ||||||
| chr15:48470811
|
A | T | 26 | a0001c0002t0003g0024a0001c0002t0003g0025a0001c0002t0003g0026others(23): Show | 26 | HG00099.hp1 HG00642.hp1 HG00741.hp2 others(23): Show |
intron_variant | MODIFIER | c.4337-55T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 35/65 | chr15 | 48470811 | ||||||
| chr15:48470838
|
T | C | 1 | a0001c0025t0008g0203 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.4337-82A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 35/65 | chr15 | 48470838 | ||||||
| chr15:48470862
|
T | C | 2 | a0001c0001t0010g0018a0001c0001t0010g0225 | 2 | HG01884.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.4337-106A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 35/65 | chr15 | 48470862 | ||||||
| chr15:48471071
|
C | T | 25 | a0001c0002t0003g0024a0001c0002t0003g0025a0001c0002t0003g0026others(22): Show | 25 | HG00099.hp1 HG00642.hp1 HG00741.hp2 others(22): Show |
intron_variant | MODIFIER | c.4337-315G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 35/65 | chr15 | 48471071 | ||||||
| chr15:48471279
|
T | C | 1 | a0001c0002t0001g0011 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.4337-523A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 35/65 | chr15 | 48471279 | ||||||
| chr15:48471292
|
C | T | 28 | a0001c0004t0004g0048a0001c0004t0004g0049a0001c0004t0004g0052others(25): Show | 28 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(25): Show |
intron_variant | MODIFIER | c.4337-536G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 35/65 | chr15 | 48471292 | ||||||
| chr15:48471352
|
C | A | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.4337-596G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 35/65 | chr15 | 48471352 | ||||||
| chr15:48471557
|
A | G | 43 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(40): Show | 43 | HG00642.hp2 HG01167.hp2 HG01255.hp1 others(40): Show |
intron_variant | MODIFIER | c.4337-801T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 35/65 | chr15 | 48471557 | ||||||
| chr15:48471677
|
G | T | 1 | a0001c0002t0003g0029 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.4336+874C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 35/65 | chr15 | 48471677 | ||||||
| chr15:48471678
|
C | A | 1 | a0001c0002t0003g0029 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.4336+873G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 35/65 | chr15 | 48471678 | ||||||
| chr15:48471701
|
G | C | 16 | a0001c0001t0001g0090a0001c0001t0001g0132a0001c0001t0001g0178others(13): Show | 16 | HG00408.hp1 HG00597.hp2 NA18946.hp1 others(13): Show |
intron_variant | MODIFIER | c.4336+850C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 35/65 | chr15 | 48471701 | ||||||
| chr15:48472089
|
G | A | 1 | a0001c0001t0010g0225 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.4336+462C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 35/65 | chr15 | 48472089 | ||||||
| chr15:48472152
|
T | C | 36 | a0001c0001t0005g0221a0001c0001t0005g0223a0001c0002t0018g0253others(33): Show | 36 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(33): Show |
intron_variant | MODIFIER | c.4336+399A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 35/65 | chr15 | 48472152 | ||||||
| chr15:48472167
|
A | G | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.4336+384T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 35/65 | chr15 | 48472167 | ||||||
| chr15:48472194
|
C | G | 154 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(151): Show | 154 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(151): Show |
intron_variant | MODIFIER | c.4336+357G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 35/65 | chr15 | 48472194 | ||||||
| chr15:48472235
|
C | T | 1 | a0002c0003t0005g0157 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.4336+316G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 35/65 | chr15 | 48472235 | ||||||
| chr15:48472297
|
T | C | 2 | a0001c0001t0002g0075a0001c0001t0002g0076 | 2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.4336+254A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 35/65 | chr15 | 48472297 | ||||||
| chr15:48472329
|
C | T | 1 | a0001c0001t0001g0089 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.4336+222G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 35/65 | chr15 | 48472329 | ||||||
| chr15:48472458
|
T | TA | 13 | a0001c0001t0001g0228a0001c0001t0001g0260a0001c0001t0011g0007others(10): Show | 13 | HG01167.hp2 HG01243.hp1 HG01884.hp2 others(10): Show |
intron_variant | MODIFIER | c.4336+92dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 35/65 | chr15 | 48472458 | ||||||
| chr15:48472458
|
TA | T | 46 | a0001c0001t0001g0099a0001c0001t0001g0186a0001c0001t0001g0217others(43): Show | 46 | HG00099.hp1 HG00642.hp1 HG00741.hp2 others(43): Show |
intron_variant | MODIFIER | c.4336+92delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 35/65 | chr15 | 48472458 | ||||||
| chr15:48472745
|
A | G | 70 | a0001c0001t0001g0001a0001c0001t0001g0176a0001c0001t0001g0188others(67): Show | 70 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.4211-69T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 34/65 | chr15 | 48472745 | ||||||
| chr15:48472836
|
A | C | 229 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0088others(226): Show | 229 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(226): Show |
intron_variant | MODIFIER | c.4211-160T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 34/65 | chr15 | 48472836 | ||||||
| chr15:48472847
|
T | G | 190 | a0001c0001t0001g0001a0001c0001t0001g0088a0001c0001t0001g0089others(187): Show | 190 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(187): Show |
intron_variant | MODIFIER | c.4211-171A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 34/65 | chr15 | 48472847 | ||||||
| chr15:48472947
|
C | T | 1 | a0001c0001t0001g0266 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.4211-271G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 34/65 | chr15 | 48472947 | ||||||
| chr15:48473032
|
C | G | 4 | a0001c0002t0003g0025a0001c0002t0003g0035a0001c0002t0003g0036others(1): Show | 4 | HG00741.hp2 HG01175.hp2 HG01978.hp1 others(1): Show |
intron_variant | MODIFIER | c.4211-356G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 34/65 | chr15 | 48473032 | ||||||
| chr15:48473057
|
T | C | 1 | a0001c0001t0001g0100 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.4211-381A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 34/65 | chr15 | 48473057 | ||||||
| chr15:48473157
|
T | C | 1 | a0003c0008t0005g0015 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.4211-481A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 34/65 | chr15 | 48473157 | ||||||
| chr15:48473266
|
A | T | 2 | a0002c0009t0001g0211a0002c0009t0001g0212 | 2 | HG02809.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.4211-590T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 34/65 | chr15 | 48473266 | ||||||
| chr15:48473429
|
T | G | 1 | a0002c0003t0005g0170 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.4211-753A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 34/65 | chr15 | 48473429 | ||||||
| chr15:48473447
|
A | C | 2 | a0001c0001t0001g0183a0001c0001t0001g0184 | 2 | NA18962.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.4211-771T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 34/65 | chr15 | 48473447 | ||||||
| chr15:48473571
|
A | G | 1 | a0001c0001t0001g0243 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.4210+684T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 34/65 | chr15 | 48473571 | ||||||
| chr15:48473815
|
A | T | 2 | a0001c0001t0001g0001a0001c0001t0005g0221 | 2 | HG02165.hp2 NA18990.hp1 |
intron_variant | MODIFIER | c.4210+440T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 34/65 | chr15 | 48473815 | ||||||
| chr15:48473817
|
A | T | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.4210+438T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 34/65 | chr15 | 48473817 | ||||||
| chr15:48473818
|
T | A | 177 | a0001c0001t0001g0002a0001c0001t0001g0088a0001c0001t0001g0089others(174): Show | 177 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(174): Show |
intron_variant | MODIFIER | c.4210+437A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 34/65 | chr15 | 48473818 | ||||||
| chr15:48473821
|
T | A | 4 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135others(1): Show | 4 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.4210+434A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 34/65 | chr15 | 48473821 | ||||||
| chr15:48473866
|
A | T | 4 | a0001c0005t0003g0208a0001c0005t0003g0209a0001c0005t0003g0210others(1): Show | 4 | HG02965.hp2 HG02970.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.4210+389T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 34/65 | chr15 | 48473866 | ||||||
| chr15:48474053
|
G | C | 146 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(143): Show | 146 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(143): Show |
intron_variant | MODIFIER | c.4210+202C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 34/65 | chr15 | 48474053 | ||||||
| chr15:48474245
|
G | A | 1 | a0001c0001t0001g0090 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.4210+10C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 34/65 | chr15 | 48474245 | ||||||
| chr15:48474428
|
C | T | 2 | a0001c0005t0001g0201a0001c0005t0003g0204 | 2 | HG02717.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.4088-51G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 33/65 | chr15 | 48474428 | ||||||
| chr15:48474658
|
A | G | 3 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0001g0190 | 3 | HG02559.hp2 HG02615.hp2 HG02809.hp2 |
splice_region_variant&intron_variant | LOW | c.3965-8T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48474658 | ||||||
| chr15:48474981
|
C | T | 67 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(64): Show | 67 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(64): Show |
intron_variant | MODIFIER | c.3965-331G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48474981 | ||||||
| chr15:48475010
|
A | ACTCCATA others(4): Show |
10 | a0001c0001t0005g0136a0001c0001t0005g0141a0001c0001t0005g0280others(7): Show | 10 | HG01243.hp1 HG02257.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.3965-361_3965-360i others(13): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48475010 | ||||||
| chr15:48475011
|
G | A | 10 | a0001c0001t0005g0136a0001c0001t0005g0141a0001c0001t0005g0280others(7): Show | 10 | HG01243.hp1 HG02257.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.3965-361C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48475011 | ||||||
| chr15:48475236
|
A | C | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.3965-586T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48475236 | ||||||
| chr15:48475433
|
C | G | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.3965-783G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48475433 | ||||||
| chr15:48475909
|
T | G | 1 | a0001c0002t0003g0027 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.3965-1259A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48475909 | ||||||
| chr15:48476139
|
T | C | 39 | a0001c0002t0018g0253a0002c0003t0001g0162a0002c0003t0002g0145others(36): Show | 39 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(36): Show |
intron_variant | MODIFIER | c.3965-1489A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48476139 | ||||||
| chr15:48476321
|
A | G | 1 | a0002c0003t0006g0166 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.3965-1671T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48476321 | ||||||
| chr15:48476436
|
G | A | 5 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135others(2): Show | 5 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.3965-1786C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48476436 | ||||||
| chr15:48476476
|
A | G | 25 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(22): Show | 25 | HG00099.hp1 HG00642.hp1 HG00741.hp2 others(22): Show |
intron_variant | MODIFIER | c.3965-1826T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48476476 | ||||||
| chr15:48476610
|
C | CTT | 65 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0052others(62): Show | 65 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(62): Show |
intron_variant | MODIFIER | c.3965-1962_3965-196 others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48476610 | ||||||
| chr15:48476610
|
C | CTTT | 28 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(25): Show | 28 | HG00099.hp1 HG00642.hp1 HG00741.hp2 others(25): Show |
intron_variant | MODIFIER | c.3965-1963_3965-196 others(7): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48476610 | ||||||
| chr15:48476613
|
T | TC | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.3965-1964_3965-196 others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48476613 | ||||||
| chr15:48476714
|
A | C | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.3965-2064T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48476714 | ||||||
| chr15:48476718
|
C | T | 1 | a0001c0001t0015g0276 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.3965-2068G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48476718 | ||||||
| chr15:48476774
|
C | CT | 42 | a0001c0001t0001g0002a0001c0001t0001g0089a0001c0001t0001g0098others(39): Show | 42 | HG01123.hp1 HG01123.hp2 HG01167.hp1 others(39): Show |
intron_variant | MODIFIER | c.3965-2125dupA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48476774 | ||||||
| chr15:48476774
|
CT | C | 96 | a0001c0001t0001g0186a0001c0001t0002g0003a0001c0001t0002g0071others(93): Show | 96 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(93): Show |
intron_variant | MODIFIER | c.3965-2125delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48476774 | ||||||
| chr15:48476774
|
CTT | C | 10 | a0001c0002t0003g0026a0001c0002t0003g0032a0001c0002t0003g0033others(7): Show | 10 | HG01516.hp2 HG01517.hp1 HG02698.hp1 others(7): Show |
intron_variant | MODIFIER | c.3965-2126_3965-212 others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48476774 | ||||||
| chr15:48476847
|
C | T | 131 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(128): Show | 131 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(128): Show |
intron_variant | MODIFIER | c.3965-2197G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48476847 | ||||||
| chr15:48476907
|
C | T | 5 | a0001c0001t0002g0091a0001c0007t0002g0013a0001c0007t0002g0014others(2): Show | 5 | HG01884.hp2 HG02258.hp2 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.3965-2257G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48476907 | ||||||
| chr15:48477015
|
T | C | 1 | a0001c0001t0001g0286 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.3965-2365A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48477015 | ||||||
| chr15:48477039
|
A | C | 25 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(22): Show | 25 | HG00099.hp1 HG00642.hp1 HG00741.hp2 others(22): Show |
intron_variant | MODIFIER | c.3965-2389T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48477039 | ||||||
| chr15:48477096
|
T | G | 17 | a0001c0002t0001g0283a0001c0002t0002g0005a0001c0002t0002g0006others(14): Show | 17 | HG01255.hp1 HG02257.hp2 HG02280.hp2 others(14): Show |
intron_variant | MODIFIER | c.3965-2446A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48477096 | ||||||
| chr15:48477116
|
T | C | 1 | a0001c0004t0004g0017 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3965-2466A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48477116 | ||||||
| chr15:48477268
|
T | C | 29 | a0001c0004t0004g0017a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.3965-2618A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48477268 | ||||||
| chr15:48477361
|
G | T | 1 | a0001c0001t0005g0221 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.3965-2711C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48477361 | ||||||
| chr15:48477421
|
A | T | 114 | a0001c0002t0001g0283a0001c0002t0002g0005a0001c0002t0002g0006others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(111): Show |
intron_variant | MODIFIER | c.3965-2771T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48477421 | ||||||
| chr15:48477593
|
A | G | 1 | a0002c0003t0002g0154 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.3965-2943T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48477593 | ||||||
| chr15:48477698
|
G | T | 1 | a0001c0015t0001g0219 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.3965-3048C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48477698 | ||||||
| chr15:48477827
|
C | T | 4 | a0001c0005t0003g0208a0001c0005t0003g0209a0001c0005t0003g0210others(1): Show | 4 | HG02965.hp2 HG02970.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.3965-3177G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48477827 | ||||||
| chr15:48477847
|
C | A | 3 | a0001c0005t0007g0205a0001c0005t0007g0206a0001c0005t0007g0207 | 3 | HG02976.hp2 NA19030.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.3965-3197G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48477847 | ||||||
| chr15:48477909
|
T | C | 25 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(22): Show | 25 | HG00099.hp1 HG00642.hp1 HG00741.hp2 others(22): Show |
intron_variant | MODIFIER | c.3965-3259A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48477909 | ||||||
| chr15:48478383
|
A | G | 147 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(144): Show | 147 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(144): Show |
intron_variant | MODIFIER | c.3964+3272T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48478383 | ||||||
| chr15:48478451
|
T | C | 3 | a0001c0007t0002g0013a0001c0007t0002g0014a0001c0012t0010g0016 | 3 | HG01884.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.3964+3204A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48478451 | ||||||
| chr15:48478567
|
A | AC | 83 | a0001c0002t0001g0283a0001c0002t0002g0084a0001c0002t0002g0125others(80): Show | 83 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(80): Show |
intron_variant | MODIFIER | c.3964+3087dupG | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48478567 | ||||||
| chr15:48478687
|
C | G | 114 | a0001c0002t0001g0283a0001c0002t0002g0005a0001c0002t0002g0006others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(111): Show |
intron_variant | MODIFIER | c.3964+2968G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48478687 | ||||||
| chr15:48478757
|
G | C | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.3964+2898C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48478757 | ||||||
| chr15:48478764
|
A | C | 68 | a0001c0002t0018g0253a0001c0004t0004g0017a0001c0004t0004g0048others(65): Show | 68 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(65): Show |
intron_variant | MODIFIER | c.3964+2891T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48478764 | ||||||
| chr15:48478806
|
G | A | 1 | a0001c0001t0005g0141 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.3964+2849C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48478806 | ||||||
| chr15:48478822
|
C | T | 72 | a0001c0002t0018g0253a0001c0004t0004g0017a0001c0004t0004g0048others(69): Show | 72 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(69): Show |
intron_variant | MODIFIER | c.3964+2833G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48478822 | ||||||
| chr15:48478956
|
A | G | 68 | a0001c0002t0018g0253a0001c0004t0004g0017a0001c0004t0004g0048others(65): Show | 68 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(65): Show |
intron_variant | MODIFIER | c.3964+2699T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48478956 | ||||||
| chr15:48479112
|
G | T | 39 | a0001c0002t0018g0253a0002c0003t0001g0162a0002c0003t0002g0145others(36): Show | 39 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(36): Show |
intron_variant | MODIFIER | c.3964+2543C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48479112 | ||||||
| chr15:48479154
|
C | T | 5 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0006t0013g0215others(2): Show | 5 | HG01884.hp1 HG02258.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.3964+2501G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48479154 | ||||||
| chr15:48479222
|
C | G | 114 | a0001c0002t0001g0283a0001c0002t0002g0005a0001c0002t0002g0006others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(111): Show |
intron_variant | MODIFIER | c.3964+2433G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48479222 | ||||||
| chr15:48479242
|
C | G | 1 | a0001c0002t0001g0020 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.3964+2413G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48479242 | ||||||
| chr15:48479287
|
T | C | 11 | a0001c0001t0005g0136a0001c0001t0005g0141a0001c0001t0005g0280others(8): Show | 11 | HG01243.hp1 HG02257.hp1 HG02572.hp1 others(8): Show |
intron_variant | MODIFIER | c.3964+2368A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48479287 | ||||||
| chr15:48479516
|
C | T | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.3964+2139G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48479516 | ||||||
| chr15:48479978
|
T | C | 2 | a0001c0001t0001g0101a0001c0001t0001g0107 | 2 | HG01928.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.3964+1677A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48479978 | ||||||
| chr15:48480006
|
C | A | 1 | a0001c0001t0001g0120 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.3964+1649G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48480006 | ||||||
| chr15:48480265
|
T | C | 92 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(89): Show | 92 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(89): Show |
intron_variant | MODIFIER | c.3964+1390A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48480265 | ||||||
| chr15:48480646
|
T | C | 16 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(13): Show | 16 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(13): Show |
intron_variant | MODIFIER | c.3964+1009A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48480646 | ||||||
| chr15:48480739
|
A | G | 197 | a0001c0001t0001g0002a0001c0001t0001g0088a0001c0001t0001g0089others(194): Show | 197 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(194): Show |
intron_variant | MODIFIER | c.3964+916T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48480739 | ||||||
| chr15:48480763
|
G | A | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.3964+892C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48480763 | ||||||
| chr15:48480895
|
A | C | 1 | a0001c0001t0002g0072 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.3964+760T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48480895 | ||||||
| chr15:48481117
|
A | G | 5 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0006t0013g0215others(2): Show | 5 | HG01884.hp1 HG02258.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.3964+538T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48481117 | ||||||
| chr15:48481440
|
T | C | 2 | a0001c0001t0002g0003a0004c0017t0002g0023 | 2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.3964+215A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48481440 | ||||||
| chr15:48481494
|
C | A | 53 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.3964+161G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 32/65 | chr15 | 48481494 | ||||||
| chr15:48481982
|
C | G | 1 | a0001c0001t0001g0237 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.3839-202G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 31/65 | chr15 | 48481982 | ||||||
| chr15:48482060
|
G | A | 2 | a0002c0009t0001g0211a0002c0009t0001g0212 | 2 | HG02809.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.3839-280C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 31/65 | chr15 | 48482060 | ||||||
| chr15:48482091
|
A | G | 147 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(144): Show | 147 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(144): Show |
intron_variant | MODIFIER | c.3839-311T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 31/65 | chr15 | 48482091 | ||||||
| chr15:48482130
|
A | T | 114 | a0001c0002t0001g0283a0001c0002t0002g0005a0001c0002t0002g0006others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(111): Show |
intron_variant | MODIFIER | c.3839-350T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 31/65 | chr15 | 48482130 | ||||||
| chr15:48482235
|
T | C | 2 | a0001c0002t0002g0125a0001c0002t0002g0126 | 2 | HG02257.hp2 HG02280.hp2 |
intron_variant | MODIFIER | c.3839-455A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 31/65 | chr15 | 48482235 | ||||||
| chr15:48482351
|
T | C | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.3839-571A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 31/65 | chr15 | 48482351 | ||||||
| chr15:48482506
|
C | T | 1 | a0001c0001t0002g0079 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.3839-726G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 31/65 | chr15 | 48482506 | ||||||
| chr15:48482604
|
G | A | 2 | a0001c0002t0002g0005a0001c0002t0002g0006 | 2 | HG03098.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.3839-824C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 31/65 | chr15 | 48482604 | ||||||
| chr15:48482805
|
C | T | 4 | a0001c0002t0003g0030a0001c0002t0003g0031a0001c0002t0003g0032others(1): Show | 4 | HG01106.hp1 HG01361.hp2 HG01516.hp2 others(1): Show |
intron_variant | MODIFIER | c.3838+1013G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 31/65 | chr15 | 48482805 | ||||||
| chr15:48483052
|
T | C | 39 | a0001c0002t0018g0253a0002c0003t0001g0162a0002c0003t0002g0145others(36): Show | 39 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(36): Show |
intron_variant | MODIFIER | c.3838+766A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 31/65 | chr15 | 48483052 | ||||||
| chr15:48483350
|
C | G | 1 | a0001c0001t0001g0239 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.3838+468G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 31/65 | chr15 | 48483350 | ||||||
| chr15:48483455
|
T | C | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.3838+363A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 31/65 | chr15 | 48483455 | ||||||
| chr15:48483460
|
T | C | 1 | a0001c0005t0001g0198 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.3838+358A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 31/65 | chr15 | 48483460 | ||||||
| chr15:48483498
|
C | T | 1 | a0001c0001t0002g0080 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.3838+320G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 31/65 | chr15 | 48483498 | ||||||
| chr15:48483596
|
C | T | 53 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.3838+222G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 31/65 | chr15 | 48483596 | ||||||
| chr15:48483597
|
G | A | 2 | a0001c0001t0005g0136a0001c0001t0005g0280 | 2 | HG02572.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.3838+221C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 31/65 | chr15 | 48483597 | ||||||
| chr15:48484119
|
G | A | 1 | a0001c0001t0025g0109 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.3713-176C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 30/65 | chr15 | 48484119 | ||||||
| chr15:48484164
|
C | T | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.3713-221G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 30/65 | chr15 | 48484164 | ||||||
| chr15:48484374
|
A | G | 1 | a0001c0001t0001g0228 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.3713-431T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 30/65 | chr15 | 48484374 | ||||||
| chr15:48484375
|
A | AT | 10 | a0001c0001t0001g0119a0001c0001t0001g0272a0001c0002t0001g0022others(7): Show | 10 | HG02723.hp2 HG02738.hp1 HG03209.hp2 others(7): Show |
intron_variant | MODIFIER | c.3713-433dupA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 30/65 | chr15 | 48484375 | ||||||
| chr15:48484449
|
G | A | 53 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.3713-506C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 30/65 | chr15 | 48484449 | ||||||
| chr15:48484450
|
C | A | 53 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.3713-507G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 30/65 | chr15 | 48484450 | ||||||
| chr15:48484473
|
G | A | 1 | a0001c0001t0001g0222 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.3713-530C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 30/65 | chr15 | 48484473 | ||||||
| chr15:48484511
|
A | G | 1 | a0001c0001t0001g0248 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.3713-568T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 30/65 | chr15 | 48484511 | ||||||
| chr15:48485079
|
G | A | 3 | a0001c0004t0004g0137a0001c0004t0004g0138a0001c0004t0022g0139 | 3 | NA18954.hp2 NA18963.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.3712+295C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 30/65 | chr15 | 48485079 | ||||||
| chr15:48485159
|
A | G | 1 | a0001c0025t0008g0203 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.3712+215T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 30/65 | chr15 | 48485159 | ||||||
| chr15:48485528
|
A | C | 2 | a0002c0009t0001g0211a0002c0009t0001g0212 | 2 | HG02809.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.3590-32T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 29/65 | chr15 | 48485528 | ||||||
| chr15:48485690
|
C | G | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.3590-194G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 29/65 | chr15 | 48485690 | ||||||
| chr15:48486019
|
C | G | 53 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.3590-523G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 29/65 | chr15 | 48486019 | ||||||
| chr15:48486864
|
T | C | 1 | a0001c0001t0005g0136 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.3589+211A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 29/65 | chr15 | 48486864 | ||||||
| chr15:48486940
|
C | T | 3 | a0001c0007t0002g0013a0001c0007t0002g0014a0001c0012t0010g0016 | 3 | HG01884.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.3589+135G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 29/65 | chr15 | 48486940 | ||||||
| chr15:48486941
|
G | A | 102 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0003g0025others(99): Show | 102 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(99): Show |
intron_variant | MODIFIER | c.3589+134C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 29/65 | chr15 | 48486941 | ||||||
| chr15:48487003
|
AATAAC | A | 127 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(124): Show | 127 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(124): Show |
intron_variant | MODIFIER | c.3589+67_3589+71del others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 29/65 | chr15 | 48487003 | ||||||
| chr15:48487023
|
C | A | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.3589+52G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 29/65 | chr15 | 48487023 | ||||||
| chr15:48487024
|
A | ATAAAG | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.3589+50_3589+51ins others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 29/65 | chr15 | 48487024 | ||||||
| chr15:48487034
|
G | A | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.3589+41C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 29/65 | chr15 | 48487034 | ||||||
| chr15:48487034
|
GTAAAA | G | 102 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0003g0025others(99): Show | 102 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(99): Show |
intron_variant | MODIFIER | c.3589+36_3589+40del others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 29/65 | chr15 | 48487034 | ||||||
| chr15:48487205
|
C | T | 102 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0003g0025others(99): Show | 102 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(99): Show |
splice_region_variant&intron_variant | LOW | c.3464-5G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 28/65 | chr15 | 48487205 | ||||||
| chr15:48487309
|
T | C | 2 | a0001c0001t0005g0221a0001c0001t0005g0223 | 2 | HG02056.hp2 HG02165.hp2 |
splice_region_variant&intron_variant | LOW | c.3463+3A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 28/65 | chr15 | 48487309 | ||||||
| chr15:48487575
|
T | C | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3338-138A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 27/65 | chr15 | 48487575 | ||||||
| chr15:48487639
|
C | A | 3 | a0001c0001t0008g0121a0003c0008t0005g0015a0003c0008t0005g0122 | 3 | HG02257.hp1 HG02622.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3338-202G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 27/65 | chr15 | 48487639 | ||||||
| chr15:48487788
|
C | A | 1 | a0002c0003t0006g0163 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.3337+325G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 27/65 | chr15 | 48487788 | ||||||
| chr15:48487892
|
A | C | 114 | a0001c0002t0001g0283a0001c0002t0002g0005a0001c0002t0002g0006others(111): Show | 114 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(111): Show |
intron_variant | MODIFIER | c.3337+221T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 27/65 | chr15 | 48487892 | ||||||
| chr15:48488058
|
C | G | 3 | a0001c0002t0001g0011a0001c0002t0001g0124a0001c0002t0002g0085 | 3 | HG02818.hp2 HG03486.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.3337+55G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 27/65 | chr15 | 48488058 | ||||||
| chr15:48488307
|
TTAAAGA | T | 12 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(9): Show | 12 | HG00642.hp2 HG01517.hp2 HG01981.hp1 others(9): Show |
intron_variant | MODIFIER | c.3208+55_3208+60del others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 26/65 | chr15 | 48488307 | ||||||
| chr15:48488332
|
G | A | 1 | a0001c0001t0001g0128 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.3208+36C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 26/65 | chr15 | 48488332 | ||||||
| chr15:48488709
|
A | C | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0008g0133others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.3083-216T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 25/65 | chr15 | 48488709 | ||||||
| chr15:48488803
|
T | C | 1 | a0001c0001t0001g0251 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.3083-310A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 25/65 | chr15 | 48488803 | ||||||
| chr15:48488877
|
A | G | 1 | a0001c0001t0001g0181 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.3083-384T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 25/65 | chr15 | 48488877 | ||||||
| chr15:48489009
|
A | G | 37 | a0001c0002t0018g0253a0002c0003t0001g0162a0002c0003t0002g0145others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(34): Show |
intron_variant | MODIFIER | c.3083-516T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 25/65 | chr15 | 48489009 | ||||||
| chr15:48489023
|
T | C | 5 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0006t0013g0215others(2): Show | 5 | HG01884.hp1 HG02258.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.3083-530A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 25/65 | chr15 | 48489023 | ||||||
| chr15:48489113
|
C | A | 1 | a0001c0002t0003g0024 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.3083-620G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 25/65 | chr15 | 48489113 | ||||||
| chr15:48489177
|
G | A | 1 | a0001c0001t0026g0268 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.3082+674C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 25/65 | chr15 | 48489177 | ||||||
| chr15:48489186
|
C | T | 103 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0003g0025others(100): Show | 103 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(100): Show |
intron_variant | MODIFIER | c.3082+665G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 25/65 | chr15 | 48489186 | ||||||
| chr15:48489199
|
T | C | 1 | a0001c0001t0001g0176 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.3082+652A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 25/65 | chr15 | 48489199 | ||||||
| chr15:48489200
|
A | AT | 12 | a0001c0001t0001g0093a0001c0002t0002g0284a0001c0002t0003g0025others(9): Show | 12 | HG00642.hp1 HG01175.hp2 HG01978.hp1 others(9): Show |
intron_variant | MODIFIER | c.3082+650dupA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 25/65 | chr15 | 48489200 | ||||||
| chr15:48489200
|
A | ATT | 27 | a0001c0002t0018g0253a0002c0003t0001g0162a0002c0003t0002g0145others(24): Show | 27 | HG01346.hp2 HG03239.hp1 NA18747.hp2 others(24): Show |
intron_variant | MODIFIER | c.3082+649_3082+650d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 25/65 | chr15 | 48489200 | ||||||
| chr15:48489200
|
A | ATTT | 10 | a0002c0003t0005g0156a0002c0003t0005g0169a0002c0003t0005g0171others(7): Show | 10 | HG00597.hp1 HG01981.hp2 HG02027.hp2 others(7): Show |
intron_variant | MODIFIER | c.3082+648_3082+650d others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 25/65 | chr15 | 48489200 | ||||||
| chr15:48489200
|
AT | A | 158 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(155): Show | 158 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(155): Show |
intron_variant | MODIFIER | c.3082+650delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 25/65 | chr15 | 48489200 | ||||||
| chr15:48489298
|
C | A | 1 | a0001c0001t0001g0279 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.3082+553G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 25/65 | chr15 | 48489298 | ||||||
| chr15:48489605
|
T | C | 1 | a0001c0001t0001g0177 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.3082+246A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 25/65 | chr15 | 48489605 | ||||||
| chr15:48489638
|
A | C | 2 | a0001c0002t0003g0039a0001c0002t0003g0042 | 2 | HG01255.hp2 HG02602.hp2 |
intron_variant | MODIFIER | c.3082+213T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 25/65 | chr15 | 48489638 | ||||||
| chr15:48489701
|
A | G | 2 | a0001c0005t0003g0208a0001c0005t0003g0209 | 2 | HG02965.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.3082+150T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 25/65 | chr15 | 48489701 | ||||||
| chr15:48489845
|
T | C | 8 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0006t0013g0215others(5): Show | 8 | HG01884.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
splice_region_variant&intron_variant | LOW | c.3082+6A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 25/65 | chr15 | 48489845 | ||||||
| chr15:48490087
|
G | A | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.2855-9C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 24/65 | chr15 | 48490087 | ||||||
| chr15:48490107
|
T | C | 3 | a0001c0001t0012g0113a0001c0001t0012g0114a0007c0019t0012g0115 | 3 | HG01167.hp1 NA18522.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.2855-29A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 24/65 | chr15 | 48490107 | ||||||
| chr15:48490186
|
T | C | 1 | a0001c0001t0001g0096 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.2855-108A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 24/65 | chr15 | 48490186 | ||||||
| chr15:48490366
|
T | C | 237 | a0001c0001t0001g0002a0001c0001t0001g0088a0001c0001t0001g0089others(234): Show | 237 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(234): Show |
intron_variant | MODIFIER | c.2855-288A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 24/65 | chr15 | 48490366 | ||||||
| chr15:48490372
|
C | T | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0008g0133others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.2855-294G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 24/65 | chr15 | 48490372 | ||||||
| chr15:48490479
|
G | A | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2855-401C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 24/65 | chr15 | 48490479 | ||||||
| chr15:48490483
|
C | T | 6 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(3): Show | 6 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.2855-405G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 24/65 | chr15 | 48490483 | ||||||
| chr15:48490606
|
C | G | 2 | a0001c0002t0001g0022a0001c0002t0007g0021 | 2 | HG03209.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2855-528G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 24/65 | chr15 | 48490606 | ||||||
| chr15:48490861
|
A | G | 122 | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0051others(119): Show | 122 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(119): Show |
intron_variant | MODIFIER | c.2855-783T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 24/65 | chr15 | 48490861 | ||||||
| chr15:48490879
|
C | A | 122 | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0051others(119): Show | 122 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(119): Show |
intron_variant | MODIFIER | c.2855-801G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 24/65 | chr15 | 48490879 | ||||||
| chr15:48491072
|
G | A | 122 | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0051others(119): Show | 122 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(119): Show |
intron_variant | MODIFIER | c.2855-994C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 24/65 | chr15 | 48491072 | ||||||
| chr15:48491239
|
A | G | 2 | a0001c0002t0007g0127a0001c0005t0007g0200 | 2 | HG01255.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.2855-1161T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 24/65 | chr15 | 48491239 | ||||||
| chr15:48491311
|
C | CA | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0008g0133others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.2854+1149dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 24/65 | chr15 | 48491311 | ||||||
| chr15:48491399
|
G | A | 1 | a0001c0001t0001g0269 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.2854+1062C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 24/65 | chr15 | 48491399 | ||||||
| chr15:48491541
|
C | T | 1 | a0001c0001t0010g0225 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2854+920G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 24/65 | chr15 | 48491541 | ||||||
| chr15:48491653
|
C | CT | 60 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0003g0025others(57): Show | 60 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(57): Show |
intron_variant | MODIFIER | c.2854+807dupA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 24/65 | chr15 | 48491653 | ||||||
| chr15:48492102
|
A | G | 10 | a0001c0001t0005g0136a0001c0001t0005g0280a0001c0001t0008g0121others(7): Show | 10 | HG01243.hp1 HG02257.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.2854+359T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 24/65 | chr15 | 48492102 | ||||||
| chr15:48492122
|
G | C | 10 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0008g0133others(7): Show | 10 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.2854+339C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 24/65 | chr15 | 48492122 | ||||||
| chr15:48492300
|
T | C | 167 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(164): Show | 167 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(164): Show |
intron_variant | MODIFIER | c.2854+161A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 24/65 | chr15 | 48492300 | ||||||
| chr15:48492336
|
G | A | 4 | a0001c0001t0002g0073a0001c0001t0002g0080a0001c0001t0002g0081others(1): Show | 4 | HG01361.hp1 HG03491.hp2 HG03834.hp2 others(1): Show |
intron_variant | MODIFIER | c.2854+125C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 24/65 | chr15 | 48492336 | ||||||
| chr15:48492386
|
G | A | 2 | a0001c0001t0001g0222a0001c0001t0003g0224 | 2 | HG00673.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.2854+75C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 24/65 | chr15 | 48492386 | ||||||
| chr15:48492717
|
G | A | 1 | a0001c0001t0001g0188 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2729-131C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 23/65 | chr15 | 48492717 | ||||||
| chr15:48492718
|
T | C | 53 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.2729-132A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 23/65 | chr15 | 48492718 | ||||||
| chr15:48492780
|
T | C | 1 | a0001c0001t0005g0141 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2729-194A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 23/65 | chr15 | 48492780 | ||||||
| chr15:48492784
|
A | G | 2 | a0001c0002t0001g0022a0001c0002t0007g0021 | 2 | HG03209.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2729-198T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 23/65 | chr15 | 48492784 | ||||||
| chr15:48493008
|
T | A | 2 | a0001c0001t0001g0176a0001c0001t0001g0188 | 2 | HG03239.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.2729-422A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 23/65 | chr15 | 48493008 | ||||||
| chr15:48493009
|
C | T | 15 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(12): Show | 15 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(12): Show |
intron_variant | MODIFIER | c.2729-423G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 23/65 | chr15 | 48493009 | ||||||
| chr15:48493311
|
A | G | 3 | a0001c0001t0001g0128a0001c0001t0001g0279a0010c0020t0001g0129 | 3 | HG02630.hp2 HG02717.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.2729-725T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 23/65 | chr15 | 48493311 | ||||||
| chr15:48493456
|
G | A | 37 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(34): Show |
intron_variant | MODIFIER | c.2728+748C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 23/65 | chr15 | 48493456 | ||||||
| chr15:48493600
|
G | A | 1 | a0001c0001t0005g0221 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.2728+604C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 23/65 | chr15 | 48493600 | ||||||
| chr15:48493746
|
A | G | 1 | a0001c0002t0007g0127 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.2728+458T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 23/65 | chr15 | 48493746 | ||||||
| chr15:48494142
|
G | A | 1 | a0001c0001t0001g0099 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.2728+62C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 23/65 | chr15 | 48494142 | ||||||
| chr15:48494269
|
G | A | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2678-15C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 22/65 | chr15 | 48494269 | ||||||
| chr15:48494492
|
C | T | 1 | a0001c0004t0004g0048 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2678-238G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 22/65 | chr15 | 48494492 | ||||||
| chr15:48494643
|
C | T | 23 | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0124others(20): Show | 23 | HG01167.hp2 HG01255.hp1 HG02257.hp2 others(20): Show |
intron_variant | MODIFIER | c.2678-389G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 22/65 | chr15 | 48494643 | ||||||
| chr15:48494720
|
C | T | 16 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(13): Show | 16 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(13): Show |
intron_variant | MODIFIER | c.2677+403G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 22/65 | chr15 | 48494720 | ||||||
| chr15:48494761
|
T | C | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.2677+362A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 22/65 | chr15 | 48494761 | ||||||
| chr15:48494997
|
C | T | 48 | a0001c0001t0002g0091a0001c0002t0001g0022a0001c0002t0001g0051others(45): Show | 48 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(45): Show |
intron_variant | MODIFIER | c.2677+126G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 22/65 | chr15 | 48494997 | ||||||
| chr15:48495048
|
T | C | 39 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(36): Show | 39 | HG00642.hp2 HG01243.hp1 HG01361.hp1 others(36): Show |
intron_variant | MODIFIER | c.2677+75A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 22/65 | chr15 | 48495048 | ||||||
| chr15:48495105
|
A | C | 1 | a0001c0001t0005g0141 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2677+18T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 22/65 | chr15 | 48495105 | ||||||
| chr15:48495326
|
T | C | 2 | a0002c0009t0001g0211a0002c0009t0001g0212 | 2 | HG02809.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.2540-66A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 21/65 | chr15 | 48495326 | ||||||
| chr15:48495596
|
A | G | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | splice_region_variant&intron_variant | LOW | c.2420-8T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 20/65 | chr15 | 48495596 | ||||||
| chr15:48495645
|
TA | T | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.2420-58delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 20/65 | chr15 | 48495645 | ||||||
| chr15:48495729
|
T | C | 2 | a0001c0001t0002g0091a0012c0011t0027g0213 | 2 | HG02258.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.2420-141A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 20/65 | chr15 | 48495729 | ||||||
| chr15:48495968
|
A | G | 5 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(2): Show | 5 | NA18959.hp1 NA18962.hp2 NA18982.hp1 others(2): Show |
intron_variant | MODIFIER | c.2419+132T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 20/65 | chr15 | 48495968 | ||||||
| chr15:48496046
|
T | C | 2 | a0001c0004t0004g0287a0011c0023t0001g0234 | 2 | NA18975.hp1 NA19077.hp1 |
intron_variant | MODIFIER | c.2419+54A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 20/65 | chr15 | 48496046 | ||||||
| chr15:48496405
|
C | T | 17 | a0001c0001t0001g0090a0001c0001t0001g0132a0001c0001t0001g0178others(14): Show | 17 | HG00408.hp1 HG00597.hp2 NA18944.hp1 others(14): Show |
intron_variant | MODIFIER | c.2294-180G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 19/65 | chr15 | 48496405 | ||||||
| chr15:48496596
|
T | C | 5 | a0001c0001t0005g0136a0001c0001t0005g0280a0001c0001t0008g0121others(2): Show | 5 | HG02257.hp1 HG02572.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.2294-371A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 19/65 | chr15 | 48496596 | ||||||
| chr15:48496649
|
T | G | 1 | a0002c0003t0006g0149 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.2294-424A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 19/65 | chr15 | 48496649 | ||||||
| chr15:48497039
|
C | CA | 53 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.2293+226dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 19/65 | chr15 | 48497039 | ||||||
| chr15:48497071
|
G | A | 1 | a0001c0001t0002g0072 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.2293+195C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 19/65 | chr15 | 48497071 | ||||||
| chr15:48497091
|
A | T | 1 | a0001c0004t0004g0052 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2293+175T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 19/65 | chr15 | 48497091 | ||||||
| chr15:48497437
|
T | C | 155 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(152): Show | 155 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(152): Show |
intron_variant | MODIFIER | c.2168-46A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 18/65 | chr15 | 48497437 | ||||||
| chr15:48497625
|
G | A | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.2168-234C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 18/65 | chr15 | 48497625 | ||||||
| chr15:48497667
|
TCTC | T | 37 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(34): Show |
intron_variant | MODIFIER | c.2168-279_2168-277d others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 18/65 | chr15 | 48497667 | ||||||
| chr15:48497707
|
G | A | 1 | a0001c0004t0004g0137 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.2168-316C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 18/65 | chr15 | 48497707 | ||||||
| chr15:48497789
|
C | G | 2 | a0001c0001t0009g0273a0001c0001t0009g0274 | 2 | NA19012.hp1 NA19080.hp1 |
intron_variant | MODIFIER | c.2168-398G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 18/65 | chr15 | 48497789 | ||||||
| chr15:48497938
|
C | T | 8 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0006t0013g0215others(5): Show | 8 | HG01884.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.2168-547G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 18/65 | chr15 | 48497938 | ||||||
| chr15:48498085
|
GA | G | 121 | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0051others(118): Show | 121 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(118): Show |
intron_variant | MODIFIER | c.2168-695delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 18/65 | chr15 | 48498085 | ||||||
| chr15:48498176
|
CT | C | 116 | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0051others(113): Show | 116 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(113): Show |
intron_variant | MODIFIER | c.2168-786delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 18/65 | chr15 | 48498176 | ||||||
| chr15:48498237
|
G | A | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.2167+748C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 18/65 | chr15 | 48498237 | ||||||
| chr15:48498299
|
C | T | 23 | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0124others(20): Show | 23 | HG01167.hp2 HG01255.hp1 HG02257.hp2 others(20): Show |
intron_variant | MODIFIER | c.2167+686G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 18/65 | chr15 | 48498299 | ||||||
| chr15:48498314
|
C | G | 5 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(2): Show | 5 | HG01243.hp1 HG02572.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.2167+671G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 18/65 | chr15 | 48498314 | ||||||
| chr15:48498519
|
T | C | 121 | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0051others(118): Show | 121 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(118): Show |
intron_variant | MODIFIER | c.2167+466A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 18/65 | chr15 | 48498519 | ||||||
| chr15:48498543
|
G | A | 1 | a0001c0001t0001g0108 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.2167+442C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 18/65 | chr15 | 48498543 | ||||||
| chr15:48498770
|
C | T | 1 | a0001c0006t0014g0004 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2167+215G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 18/65 | chr15 | 48498770 | ||||||
| chr15:48499129
|
G | A | 1 | a0001c0001t0010g0225 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2114-91C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48499129 | ||||||
| chr15:48499163
|
G | A | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2114-125C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48499163 | ||||||
| chr15:48499201
|
C | T | 1 | a0001c0002t0023g0034 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.2114-163G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48499201 | ||||||
| chr15:48499387
|
A | G | 1 | a0001c0005t0001g0198 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2114-349T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48499387 | ||||||
| chr15:48499447
|
T | G | 29 | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0124others(26): Show | 29 | HG01167.hp2 HG01255.hp1 HG02257.hp2 others(26): Show |
intron_variant | MODIFIER | c.2114-409A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48499447 | ||||||
| chr15:48499582
|
T | G | 1 | a0001c0002t0003g0029 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2114-544A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48499582 | ||||||
| chr15:48499715
|
CCAT | C | 29 | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0124others(26): Show | 29 | HG01167.hp2 HG01255.hp1 HG02257.hp2 others(26): Show |
intron_variant | MODIFIER | c.2114-680_2114-678d others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48499715 | ||||||
| chr15:48499957
|
G | A | 1 | a0001c0002t0004g0043 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.2114-919C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48499957 | ||||||
| chr15:48500101
|
G | T | 2 | a0001c0001t0005g0136a0001c0001t0005g0280 | 2 | HG02572.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.2114-1063C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48500101 | ||||||
| chr15:48500247
|
A | G | 168 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(165): Show | 168 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(165): Show |
intron_variant | MODIFIER | c.2114-1209T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48500247 | ||||||
| chr15:48500257
|
T | TA | 3 | a0001c0001t0001g0096a0001c0001t0019g0246a0001c0001t0025g0109 | 3 | HG00099.hp2 HG01258.hp2 HG03490.hp2 |
intron_variant | MODIFIER | c.2114-1220dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48500257 | ||||||
| chr15:48500272
|
G | A | 6 | a0001c0001t0001g0002a0001c0001t0001g0130a0001c0001t0001g0131others(3): Show | 6 | HG02280.hp1 HG02559.hp2 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.2114-1234C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48500272 | ||||||
| chr15:48500426
|
GA | G | 17 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(14): Show | 17 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(14): Show |
intron_variant | MODIFIER | c.2114-1389delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48500426 | ||||||
| chr15:48500729
|
C | T | 2 | a0001c0001t0001g0019a0001c0001t0001g0217 | 2 | HG04228.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.2114-1691G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48500729 | ||||||
| chr15:48501009
|
G | T | 1 | a0001c0001t0002g0091 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2114-1971C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48501009 | ||||||
| chr15:48501143
|
T | C | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2114-2105A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48501143 | ||||||
| chr15:48501146
|
C | T | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0008g0133others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.2114-2108G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48501146 | ||||||
| chr15:48501195
|
C | T | 1 | a0001c0001t0001g0233 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2114-2157G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48501195 | ||||||
| chr15:48501334
|
A | G | 7 | a0001c0002t0003g0026a0001c0002t0003g0027a0001c0002t0003g0030others(4): Show | 7 | HG01106.hp1 HG01192.hp1 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.2114-2296T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48501334 | ||||||
| chr15:48501418
|
C | T | 18 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(15): Show | 18 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(15): Show |
intron_variant | MODIFIER | c.2113+2369G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48501418 | ||||||
| chr15:48501467
|
T | G | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2113+2320A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48501467 | ||||||
| chr15:48501468
|
G | A | 1 | a0001c0005t0013g0199 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2113+2319C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48501468 | ||||||
| chr15:48501697
|
C | G | 1 | a0001c0001t0001g0251 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.2113+2090G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48501697 | ||||||
| chr15:48501923
|
A | G | 1 | a0001c0001t0005g0141 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2113+1864T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48501923 | ||||||
| chr15:48502019
|
T | C | 1 | a0001c0002t0023g0034 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.2113+1768A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48502019 | ||||||
| chr15:48502176
|
G | A | 3 | a0001c0004t0004g0065a0001c0004t0004g0066a0001c0010t0003g0192 | 3 | NA18992.hp1 NA19030.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.2113+1611C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48502176 | ||||||
| chr15:48502179
|
C | A | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0008g0133others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.2113+1608G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48502179 | ||||||
| chr15:48502241
|
T | G | 53 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.2113+1546A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48502241 | ||||||
| chr15:48502349
|
C | T | 10 | a0001c0001t0005g0136a0001c0001t0005g0280a0001c0001t0008g0121others(7): Show | 10 | HG01243.hp1 HG02257.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.2113+1438G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48502349 | ||||||
| chr15:48502998
|
C | T | 122 | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0022others(119): Show | 122 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(119): Show |
intron_variant | MODIFIER | c.2113+789G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48502998 | ||||||
| chr15:48503025
|
C | T | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2113+762G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48503025 | ||||||
| chr15:48503159
|
G | A | 39 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(36): Show | 39 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(36): Show |
intron_variant | MODIFIER | c.2113+628C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48503159 | ||||||
| chr15:48503166
|
C | T | 5 | a0001c0001t0015g0276a0002c0003t0002g0145a0002c0003t0002g0154others(2): Show | 5 | HG01123.hp2 NA18965.hp2 NA18968.hp1 others(2): Show |
intron_variant | MODIFIER | c.2113+621G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48503166 | ||||||
| chr15:48503172
|
C | T | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.2113+615G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48503172 | ||||||
| chr15:48503239
|
G | C | 15 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(12): Show | 15 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(12): Show |
intron_variant | MODIFIER | c.2113+548C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48503239 | ||||||
| chr15:48503296
|
C | CA | 6 | a0001c0001t0001g0099a0001c0001t0001g0222a0001c0001t0002g0214others(3): Show | 6 | HG00673.hp1 HG01123.hp1 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.2113+490dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48503296 | ||||||
| chr15:48503296
|
CA | C | 6 | a0001c0001t0001g0098a0001c0001t0001g0102a0001c0001t0001g0128others(3): Show | 6 | HG01516.hp1 HG02630.hp2 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.2113+490delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48503296 | ||||||
| chr15:48503312
|
A | G | 1 | a0001c0001t0001g0095 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2113+475T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48503312 | ||||||
| chr15:48503313
|
AAG | A | 54 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(51): Show | 54 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(51): Show |
intron_variant | MODIFIER | c.2113+472_2113+473d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48503313 | ||||||
| chr15:48503314
|
AG | A | 76 | a0001c0001t0002g0091a0001c0002t0001g0011a0001c0002t0001g0020others(73): Show | 76 | HG00597.hp1 HG01167.hp2 HG01255.hp1 others(73): Show |
intron_variant | MODIFIER | c.2113+472delC | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48503314 | ||||||
| chr15:48503315
|
G | A | 35 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(32): Show | 35 | HG00642.hp2 HG01243.hp1 HG01361.hp1 others(32): Show |
intron_variant | MODIFIER | c.2113+472C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48503315 | ||||||
| chr15:48503340
|
GAAAACCA others(4): Show |
G | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2113+436_2113+446d others(13): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48503340 | ||||||
| chr15:48503382
|
T | C | 1 | a0002c0003t0005g0142 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.2113+405A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48503382 | ||||||
| chr15:48503663
|
C | T | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2113+124G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48503663 | ||||||
| chr15:48503680
|
G | A | 121 | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0051others(118): Show | 121 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(118): Show |
intron_variant | MODIFIER | c.2113+107C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 17/65 | chr15 | 48503680 | ||||||
| chr15:48504051
|
G | A | 3 | a0001c0007t0002g0013a0001c0007t0002g0014a0001c0012t0010g0016 | 3 | HG01884.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1961-112C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 16/65 | chr15 | 48504051 | ||||||
| chr15:48504140
|
C | T | 128 | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0022others(125): Show | 128 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(125): Show |
intron_variant | MODIFIER | c.1961-201G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 16/65 | chr15 | 48504140 | ||||||
| chr15:48504220
|
C | T | 1 | a0001c0001t0001g0259 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.1961-281G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 16/65 | chr15 | 48504220 | ||||||
| chr15:48504551
|
T | C | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.1960+474A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 16/65 | chr15 | 48504551 | ||||||
| chr15:48504618
|
A | G | 1 | a0001c0001t0005g0141 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1960+407T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 16/65 | chr15 | 48504618 | ||||||
| chr15:48504927
|
T | A | 53 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.1960+98A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 16/65 | chr15 | 48504927 | ||||||
| chr15:48504949
|
C | T | 29 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0092others(26): Show | 29 | HG00621.hp2 HG00673.hp2 HG01123.hp2 others(26): Show |
intron_variant | MODIFIER | c.1960+76G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 16/65 | chr15 | 48504949 | ||||||
| chr15:48504995
|
C | T | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.1960+30G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 16/65 | chr15 | 48504995 | ||||||
| chr15:48505193
|
T | C | 1 | a0001c0001t0001g0090 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.1838-46A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48505193 | ||||||
| chr15:48505227
|
C | A | 121 | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0051others(118): Show | 121 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(118): Show |
intron_variant | MODIFIER | c.1838-80G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48505227 | ||||||
| chr15:48505441
|
C | A | 16 | a0001c0001t0001g0090a0001c0001t0001g0132a0001c0001t0001g0178others(13): Show | 16 | HG00408.hp1 NA18944.hp1 NA18946.hp1 others(13): Show |
intron_variant | MODIFIER | c.1838-294G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48505441 | ||||||
| chr15:48505804
|
G | A | 2 | a0001c0001t0002g0091a0012c0011t0027g0213 | 2 | HG02258.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.1838-657C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48505804 | ||||||
| chr15:48506078
|
C | T | 105 | a0001c0002t0001g0022a0001c0002t0001g0051a0001c0002t0002g0005others(102): Show | 105 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(102): Show |
intron_variant | MODIFIER | c.1838-931G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48506078 | ||||||
| chr15:48506108
|
A | G | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1838-961T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48506108 | ||||||
| chr15:48506204
|
G | A | 39 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(36): Show | 39 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(36): Show |
intron_variant | MODIFIER | c.1838-1057C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48506204 | ||||||
| chr15:48506289
|
C | G | 2 | a0001c0001t0005g0136a0001c0001t0005g0280 | 2 | HG02572.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.1838-1142G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48506289 | ||||||
| chr15:48506511
|
C | T | 98 | a0001c0002t0001g0051a0001c0002t0002g0005a0001c0002t0002g0006others(95): Show | 98 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(95): Show |
intron_variant | MODIFIER | c.1838-1364G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48506511 | ||||||
| chr15:48506600
|
G | C | 1 | a0001c0006t0014g0004 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1838-1453C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48506600 | ||||||
| chr15:48506713
|
A | G | 40 | a0001c0002t0001g0051a0001c0002t0018g0253a0002c0003t0001g0162others(37): Show | 40 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(37): Show |
intron_variant | MODIFIER | c.1838-1566T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48506713 | ||||||
| chr15:48506919
|
G | GCT | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0008g0133others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.1837+1661_1837+166 others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48506919 | ||||||
| chr15:48506919
|
G | GCTCT | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.1837+1659_1837+166 others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48506919 | ||||||
| chr15:48507030
|
A | G | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0008g0133others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.1837+1552T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48507030 | ||||||
| chr15:48507031
|
C | T | 1 | a0002c0003t0006g0166 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.1837+1551G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48507031 | ||||||
| chr15:48507095
|
T | C | 1 | a0003c0008t0005g0015 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1837+1487A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48507095 | ||||||
| chr15:48507151
|
T | C | 169 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(166): Show | 169 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(166): Show |
intron_variant | MODIFIER | c.1837+1431A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48507151 | ||||||
| chr15:48507184
|
T | A | 106 | a0001c0002t0001g0022a0001c0002t0001g0051a0001c0002t0002g0005others(103): Show | 106 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(103): Show |
intron_variant | MODIFIER | c.1837+1398A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48507184 | ||||||
| chr15:48507401
|
A | G | 1 | a0001c0001t0001g0111 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.1837+1181T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48507401 | ||||||
| chr15:48507518
|
T | C | 2 | a0001c0001t0002g0091a0012c0011t0027g0213 | 2 | HG02258.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.1837+1064A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48507518 | ||||||
| chr15:48507542
|
T | C | 2 | a0001c0001t0001g0255a0001c0001t0001g0256 | 2 | NA18975.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.1837+1040A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48507542 | ||||||
| chr15:48507634
|
G | A | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0008g0133others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.1837+948C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48507634 | ||||||
| chr15:48507699
|
C | T | 2 | a0001c0002t0002g0005a0001c0002t0002g0006 | 2 | HG03098.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.1837+883G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48507699 | ||||||
| chr15:48507966
|
G | A | 53 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.1837+616C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48507966 | ||||||
| chr15:48508009
|
T | TA | 40 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(37): Show | 40 | HG00642.hp2 HG01167.hp2 HG01255.hp1 others(37): Show |
intron_variant | MODIFIER | c.1837+572dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48508009 | ||||||
| chr15:48508086
|
G | A | 3 | a0001c0001t0008g0121a0003c0008t0005g0015a0003c0008t0005g0122 | 3 | HG02257.hp1 HG02622.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1837+496C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48508086 | ||||||
| chr15:48508106
|
A | T | 4 | a0002c0003t0005g0142a0002c0003t0005g0146a0002c0003t0005g0152others(1): Show | 4 | NA18971.hp1 NA19002.hp1 NA19070.hp2 others(1): Show |
intron_variant | MODIFIER | c.1837+476T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48508106 | ||||||
| chr15:48508351
|
C | T | 1 | a0001c0001t0005g0221 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1837+231G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48508351 | ||||||
| chr15:48508374
|
C | A | 4 | a0001c0002t0001g0011a0001c0002t0002g0084a0001c0004t0010g0012others(1): Show | 4 | HG02818.hp2 HG02886.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.1837+208G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48508374 | ||||||
| chr15:48508546
|
C | T | 17 | a0001c0001t0001g0090a0001c0001t0001g0132a0001c0001t0001g0178others(14): Show | 17 | HG00408.hp1 HG00597.hp2 NA18944.hp1 others(14): Show |
intron_variant | MODIFIER | c.1837+36G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 15/65 | chr15 | 48508546 | ||||||
| chr15:48508990
|
T | C | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.1715-286A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 14/65 | chr15 | 48508990 | ||||||
| chr15:48509128
|
T | C | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.1715-424A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 14/65 | chr15 | 48509128 | ||||||
| chr15:48509137
|
T | C | 1 | a0002c0003t0005g0174 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.1715-433A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 14/65 | chr15 | 48509137 | ||||||
| chr15:48509178
|
G | A | 3 | a0001c0001t0002g0071a0001c0001t0002g0074a0001c0001t0002g0077 | 3 | HG00642.hp2 HG02293.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1715-474C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 14/65 | chr15 | 48509178 | ||||||
| chr15:48509430
|
T | G | 1 | a0001c0004t0004g0017 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1714+614A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 14/65 | chr15 | 48509430 | ||||||
| chr15:48509496
|
T | C | 14 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0005g0142others(11): Show | 14 | HG00597.hp1 NA18945.hp2 NA18963.hp1 others(11): Show |
intron_variant | MODIFIER | c.1714+548A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 14/65 | chr15 | 48509496 | ||||||
| chr15:48509607
|
A | G | 39 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(36): Show | 39 | HG00642.hp2 HG01167.hp2 HG01255.hp1 others(36): Show |
intron_variant | MODIFIER | c.1714+437T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 14/65 | chr15 | 48509607 | ||||||
| chr15:48509613
|
AT | A | 99 | a0001c0002t0001g0051a0001c0002t0002g0005a0001c0002t0002g0006others(96): Show | 99 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(96): Show |
intron_variant | MODIFIER | c.1714+430delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 14/65 | chr15 | 48509613 | ||||||
| chr15:48509738
|
C | T | 99 | a0001c0002t0001g0051a0001c0002t0002g0005a0001c0002t0002g0006others(96): Show | 99 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(96): Show |
intron_variant | MODIFIER | c.1714+306G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 14/65 | chr15 | 48509738 | ||||||
| chr15:48509954
|
A | T | 8 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0006t0013g0215others(5): Show | 8 | HG01884.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.1714+90T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 14/65 | chr15 | 48509954 | ||||||
| chr15:48510259
|
A | T | 1 | a0001c0002t0001g0124 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1589-90T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48510259 | ||||||
| chr15:48510305
|
A | G | 40 | a0001c0002t0001g0051a0001c0002t0018g0253a0002c0003t0001g0162others(37): Show | 40 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(37): Show |
intron_variant | MODIFIER | c.1589-136T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48510305 | ||||||
| chr15:48510727
|
C | T | 1 | a0001c0025t0008g0203 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1589-558G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48510727 | ||||||
| chr15:48511017
|
G | A | 99 | a0001c0002t0001g0051a0001c0002t0002g0005a0001c0002t0002g0006others(96): Show | 99 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(96): Show |
intron_variant | MODIFIER | c.1589-848C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48511017 | ||||||
| chr15:48511062
|
A | G | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1589-893T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48511062 | ||||||
| chr15:48511066
|
G | A | 3 | a0001c0001t0001g0128a0001c0001t0001g0279a0010c0020t0001g0129 | 3 | HG02630.hp2 HG02717.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1589-897C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48511066 | ||||||
| chr15:48511594
|
T | C | 1 | a0001c0001t0005g0141 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1589-1425A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48511594 | ||||||
| chr15:48511609
|
C | T | 8 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0006t0013g0215others(5): Show | 8 | HG01884.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.1589-1440G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48511609 | ||||||
| chr15:48511642
|
T | C | 168 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(165): Show | 168 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(165): Show |
intron_variant | MODIFIER | c.1589-1473A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48511642 | ||||||
| chr15:48511722
|
T | G | 155 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(152): Show | 155 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(152): Show |
intron_variant | MODIFIER | c.1589-1553A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48511722 | ||||||
| chr15:48511860
|
G | C | 1 | a0001c0001t0002g0078 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1588+1689C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48511860 | ||||||
| chr15:48512152
|
T | A | 1 | a0001c0001t0001g0176 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1588+1397A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48512152 | ||||||
| chr15:48512445
|
A | G | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1588+1104T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48512445 | ||||||
| chr15:48512525
|
G | C | 40 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(37): Show | 40 | HG00642.hp2 HG01167.hp2 HG01255.hp1 others(37): Show |
intron_variant | MODIFIER | c.1588+1024C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48512525 | ||||||
| chr15:48512621
|
C | T | 37 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(34): Show |
intron_variant | MODIFIER | c.1588+928G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48512621 | ||||||
| chr15:48512644
|
C | A | 102 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(99): Show | 102 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(99): Show |
intron_variant | MODIFIER | c.1588+905G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48512644 | ||||||
| chr15:48512766
|
GT | G | 7 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0008g0133others(4): Show | 7 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1588+782delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48512766 | ||||||
| chr15:48512839
|
T | C | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1588+710A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48512839 | ||||||
| chr15:48512868
|
T | G | 1 | a0001c0001t0001g0100 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1588+681A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48512868 | ||||||
| chr15:48512899
|
C | T | 98 | a0001c0002t0001g0051a0001c0002t0002g0005a0001c0002t0002g0006others(95): Show | 98 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(95): Show |
intron_variant | MODIFIER | c.1588+650G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48512899 | ||||||
| chr15:48513020
|
C | T | 1 | a0001c0001t0001g0240 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1588+529G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48513020 | ||||||
| chr15:48513183
|
T | C | 1 | a0001c0015t0001g0219 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1588+366A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48513183 | ||||||
| chr15:48513350
|
T | C | 1 | a0001c0001t0001g0128 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1588+199A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48513350 | ||||||
| chr15:48513440
|
G | A | 165 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(162): Show | 165 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(162): Show |
intron_variant | MODIFIER | c.1588+109C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48513440 | ||||||
| chr15:48513477
|
T | C | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0008g0133others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.1588+72A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 13/65 | chr15 | 48513477 | ||||||
| chr15:48513741
|
T | C | 1 | a0001c0005t0007g0206 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1469-73A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 12/65 | chr15 | 48513741 | ||||||
| chr15:48513830
|
T | C | 39 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(36): Show | 39 | HG00642.hp2 HG01167.hp2 HG01255.hp1 others(36): Show |
intron_variant | MODIFIER | c.1469-162A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 12/65 | chr15 | 48513830 | ||||||
| chr15:48514188
|
A | G | 1 | a0001c0002t0001g0283 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1469-520T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 12/65 | chr15 | 48514188 | ||||||
| chr15:48514342
|
C | T | 38 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(35): Show | 38 | HG00642.hp2 HG01167.hp2 HG01255.hp1 others(35): Show |
intron_variant | MODIFIER | c.1469-674G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 12/65 | chr15 | 48514342 | ||||||
| chr15:48514492
|
C | A | 1 | a0001c0001t0001g0019 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1469-824G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 12/65 | chr15 | 48514492 | ||||||
| chr15:48514554
|
T | A | 1 | a0001c0001t0001g0275 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.1468+833A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 12/65 | chr15 | 48514554 | ||||||
| chr15:48514633
|
T | C | 4 | a0002c0003t0006g0158a0002c0003t0006g0160a0002c0003t0006g0161others(1): Show | 4 | NA18944.hp2 NA18994.hp1 NA18995.hp2 others(1): Show |
intron_variant | MODIFIER | c.1468+754A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 12/65 | chr15 | 48514633 | ||||||
| chr15:48514692
|
G | T | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.1468+695C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 12/65 | chr15 | 48514692 | ||||||
| chr15:48514750
|
G | C | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1468+637C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 12/65 | chr15 | 48514750 | ||||||
| chr15:48514756
|
T | C | 107 | a0001c0002t0001g0022a0001c0002t0001g0051a0001c0002t0002g0005others(104): Show | 107 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(104): Show |
intron_variant | MODIFIER | c.1468+631A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 12/65 | chr15 | 48514756 | ||||||
| chr15:48514888
|
G | T | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1468+499C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 12/65 | chr15 | 48514888 | ||||||
| chr15:48514972
|
G | C | 1 | a0001c0005t0014g0196 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1468+415C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 12/65 | chr15 | 48514972 | ||||||
| chr15:48515096
|
G | A | 1 | a0001c0001t0001g0101 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.1468+291C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 12/65 | chr15 | 48515096 | ||||||
| chr15:48515200
|
C | G | 39 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(36): Show | 39 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(36): Show |
intron_variant | MODIFIER | c.1468+187G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 12/65 | chr15 | 48515200 | ||||||
| chr15:48515215
|
A | G | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1468+172T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 12/65 | chr15 | 48515215 | ||||||
| chr15:48515291
|
T | C | 1 | a0001c0001t0005g0141 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1468+96A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 12/65 | chr15 | 48515291 | ||||||
| chr15:48515671
|
A | G | 14 | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0124others(11): Show | 14 | HG01167.hp2 HG01255.hp1 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.1328-144T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 11/65 | chr15 | 48515671 | ||||||
| chr15:48515711
|
G | A | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1328-184C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 11/65 | chr15 | 48515711 | ||||||
| chr15:48515768
|
T | C | 1 | a0001c0004t0004g0138 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.1328-241A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 11/65 | chr15 | 48515768 | ||||||
| chr15:48515888
|
A | C | 1 | a0001c0002t0001g0124 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1327+295T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 11/65 | chr15 | 48515888 | ||||||
| chr15:48516538
|
C | T | 1 | a0001c0001t0002g0079 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1148-176G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48516538 | ||||||
| chr15:48516633
|
T | C | 40 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(37): Show | 40 | HG00642.hp2 HG01167.hp2 HG01255.hp1 others(37): Show |
intron_variant | MODIFIER | c.1148-271A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48516633 | ||||||
| chr15:48516760
|
G | A | 1 | a0001c0001t0002g0091 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1148-398C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48516760 | ||||||
| chr15:48516883
|
G | A | 99 | a0001c0002t0001g0051a0001c0002t0002g0005a0001c0002t0002g0006others(96): Show | 99 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(96): Show |
intron_variant | MODIFIER | c.1148-521C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48516883 | ||||||
| chr15:48517115
|
T | TA | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0008g0133others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.1148-754dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48517115 | ||||||
| chr15:48517231
|
G | A | 39 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(36): Show | 39 | HG00642.hp2 HG01167.hp2 HG01255.hp1 others(36): Show |
intron_variant | MODIFIER | c.1148-869C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48517231 | ||||||
| chr15:48517372
|
T | C | 2 | a0001c0002t0001g0124a0001c0002t0002g0085 | 2 | HG03486.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1148-1010A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48517372 | ||||||
| chr15:48517442
|
G | A | 4 | a0001c0002t0001g0283a0001c0005t0003g0208a0001c0005t0003g0210others(1): Show | 4 | HG02965.hp2 HG02970.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.1148-1080C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48517442 | ||||||
| chr15:48517571
|
C | T | 1 | a0001c0004t0004g0137 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.1148-1209G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48517571 | ||||||
| chr15:48517684
|
T | C | 1 | a0001c0001t0001g0251 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1148-1322A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48517684 | ||||||
| chr15:48517813
|
T | C | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.1148-1451A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48517813 | ||||||
| chr15:48518283
|
C | A | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1148-1921G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48518283 | ||||||
| chr15:48518292
|
T | C | 1 | a0001c0004t0004g0287 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.1148-1930A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48518292 | ||||||
| chr15:48518302
|
G | T | 147 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(144): Show | 147 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(144): Show |
intron_variant | MODIFIER | c.1148-1940C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48518302 | ||||||
| chr15:48518522
|
T | C | 3 | a0001c0001t0008g0121a0003c0008t0005g0015a0003c0008t0005g0122 | 3 | HG02257.hp1 HG02622.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1147+2137A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48518522 | ||||||
| chr15:48518735
|
G | A | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0008g0133others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.1147+1924C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48518735 | ||||||
| chr15:48518744
|
T | A | 15 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(12): Show | 15 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(12): Show |
intron_variant | MODIFIER | c.1147+1915A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48518744 | ||||||
| chr15:48518775
|
C | A | 1 | a0001c0002t0003g0044 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1147+1884G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48518775 | ||||||
| chr15:48518875
|
C | G | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1147+1784G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48518875 | ||||||
| chr15:48518934
|
T | C | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1147+1725A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48518934 | ||||||
| chr15:48519237
|
T | G | 1 | a0001c0001t0009g0274 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.1147+1422A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48519237 | ||||||
| chr15:48519516
|
T | C | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.1147+1143A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48519516 | ||||||
| chr15:48519823
|
A | G | 154 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(151): Show | 154 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(151): Show |
intron_variant | MODIFIER | c.1147+836T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48519823 | ||||||
| chr15:48519823
|
A | T | 1 | a0001c0001t0001g0254 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1147+836T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48519823 | ||||||
| chr15:48519866
|
T | C | 1 | a0001c0001t0001g0096 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.1147+793A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48519866 | ||||||
| chr15:48519942
|
G | A | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1147+717C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48519942 | ||||||
| chr15:48519942
|
G | C | 1 | a0001c0001t0002g0003 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.1147+717C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48519942 | ||||||
| chr15:48520186
|
C | T | 98 | a0001c0002t0001g0051a0001c0002t0002g0005a0001c0002t0002g0006others(95): Show | 98 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(95): Show |
intron_variant | MODIFIER | c.1147+473G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48520186 | ||||||
| chr15:48520387
|
T | C | 1 | a0001c0001t0001g0269 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.1147+272A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48520387 | ||||||
| chr15:48520402
|
T | A | 4 | a0001c0002t0001g0283a0001c0005t0003g0208a0001c0005t0003g0210others(1): Show | 4 | HG02965.hp2 HG02970.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.1147+257A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48520402 | ||||||
| chr15:48520488
|
C | CT | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.1147+170dupA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48520488 | ||||||
| chr15:48520617
|
G | GCTGGGAT others(2152): Show |
1 | a0001c0001t0001g0001 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1147+41_1147+42ins others(2159): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48520617 | ||||||
| chr15:48520631
|
T | C | 40 | a0001c0002t0001g0051a0001c0002t0018g0253a0002c0003t0001g0162others(37): Show | 40 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(37): Show |
intron_variant | MODIFIER | c.1147+28A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 10/65 | chr15 | 48520631 | ||||||
| chr15:48520885
|
C | A | 11 | a0001c0001t0005g0136a0001c0001t0005g0141a0001c0001t0005g0280others(8): Show | 11 | HG01243.hp1 HG02257.hp1 HG02572.hp1 others(8): Show |
intron_variant | MODIFIER | c.989-68G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48520885 | ||||||
| chr15:48520910
|
G | T | 98 | a0001c0002t0001g0051a0001c0002t0002g0005a0001c0002t0002g0006others(95): Show | 98 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(95): Show |
intron_variant | MODIFIER | c.989-93C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48520910 | ||||||
| chr15:48520939
|
T | C | 4 | a0001c0002t0001g0283a0001c0005t0003g0208a0001c0005t0003g0210others(1): Show | 4 | HG02965.hp2 HG02970.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.989-122A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48520939 | ||||||
| chr15:48520946
|
C | T | 2 | a0001c0002t0002g0005a0001c0002t0002g0006 | 2 | HG03098.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.989-129G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48520946 | ||||||
| chr15:48521000
|
G | T | 1 | a0001c0001t0005g0141 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.989-183C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48521000 | ||||||
| chr15:48521234
|
C | T | 2 | a0001c0001t0005g0136a0001c0001t0005g0280 | 2 | HG02572.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.989-417G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48521234 | ||||||
| chr15:48521254
|
G | A | 1 | a0001c0001t0001g0275 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.989-437C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48521254 | ||||||
| chr15:48521369
|
C | A | 1 | a0001c0001t0001g0120 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.989-552G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48521369 | ||||||
| chr15:48521407
|
C | T | 2 | a0001c0001t0005g0136a0001c0001t0005g0280 | 2 | HG02572.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.989-590G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48521407 | ||||||
| chr15:48521438
|
T | C | 3 | a0001c0001t0001g0238a0001c0001t0001g0242a0001c0001t0001g0250 | 3 | HG00741.hp1 HG01106.hp2 HG02698.hp2 |
intron_variant | MODIFIER | c.989-621A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48521438 | ||||||
| chr15:48521457
|
T | C | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.989-640A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48521457 | ||||||
| chr15:48521472
|
T | C | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.989-655A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48521472 | ||||||
| chr15:48521484
|
A | G | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.989-667T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48521484 | ||||||
| chr15:48521614
|
C | T | 8 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0006t0013g0215others(5): Show | 8 | HG01884.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.989-797G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48521614 | ||||||
| chr15:48521638
|
G | C | 98 | a0001c0002t0001g0051a0001c0002t0002g0005a0001c0002t0002g0006others(95): Show | 98 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(95): Show |
intron_variant | MODIFIER | c.989-821C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48521638 | ||||||
| chr15:48521838
|
T | A | 1 | a0001c0002t0003g0029 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.989-1021A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48521838 | ||||||
| chr15:48521862
|
T | G | 99 | a0001c0002t0001g0051a0001c0002t0002g0005a0001c0002t0002g0006others(96): Show | 99 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(96): Show |
intron_variant | MODIFIER | c.989-1045A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48521862 | ||||||
| chr15:48521932
|
G | C | 2 | a0001c0005t0003g0210a0001c0005t0013g0199 | 2 | HG02970.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.989-1115C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48521932 | ||||||
| chr15:48522000
|
C | T | 1 | a0001c0025t0008g0203 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.989-1183G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48522000 | ||||||
| chr15:48522075
|
C | T | 1 | a0001c0001t0001g0230 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.989-1258G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48522075 | ||||||
| chr15:48522100
|
G | A | 39 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(36): Show | 39 | HG00642.hp2 HG01167.hp2 HG01255.hp1 others(36): Show |
intron_variant | MODIFIER | c.989-1283C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48522100 | ||||||
| chr15:48522101
|
T | C | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.989-1284A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48522101 | ||||||
| chr15:48522119
|
T | A | 9 | a0002c0003t0006g0153a0002c0003t0006g0158a0002c0003t0006g0160others(6): Show | 9 | HG01346.hp2 HG02027.hp2 HG02080.hp2 others(6): Show |
intron_variant | MODIFIER | c.989-1302A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48522119 | ||||||
| chr15:48522279
|
T | C | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.989-1462A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48522279 | ||||||
| chr15:48522294
|
T | A | 2 | a0001c0001t0001g0277a0001c0001t0001g0278 | 2 | HG02976.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.989-1477A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48522294 | ||||||
| chr15:48522356
|
G | A | 1 | a0001c0002t0003g0024 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.989-1539C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48522356 | ||||||
| chr15:48522457
|
T | C | 106 | a0001c0002t0001g0022a0001c0002t0001g0051a0001c0002t0002g0005others(103): Show | 106 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(103): Show |
intron_variant | MODIFIER | c.989-1640A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48522457 | ||||||
| chr15:48522469
|
G | T | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.989-1652C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48522469 | ||||||
| chr15:48522815
|
C | T | 1 | a0001c0001t0005g0141 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.989-1998G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48522815 | ||||||
| chr15:48522991
|
G | C | 1 | a0001c0001t0001g0102 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.989-2174C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48522991 | ||||||
| chr15:48523012
|
C | T | 5 | a0001c0006t0013g0215a0001c0006t0014g0004a0001c0007t0002g0013others(2): Show | 5 | HG01884.hp2 HG02258.hp1 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.989-2195G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523012 | ||||||
| chr15:48523031
|
G | T | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0008g0133others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.989-2214C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523031 | ||||||
| chr15:48523032
|
A | G | 40 | a0001c0002t0001g0051a0001c0002t0018g0253a0002c0003t0001g0162others(37): Show | 40 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(37): Show |
intron_variant | MODIFIER | c.989-2215T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523032 | ||||||
| chr15:48523045
|
T | A | 25 | a0001c0004t0004g0048a0001c0004t0004g0049a0001c0004t0004g0052others(22): Show | 25 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(22): Show |
intron_variant | MODIFIER | c.989-2228A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523045 | ||||||
| chr15:48523141
|
G | A | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.989-2324C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523141 | ||||||
| chr15:48523148
|
G | T | 1 | a0001c0002t0017g0040 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.989-2331C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523148 | ||||||
| chr15:48523221
|
A | C | 4 | a0001c0002t0001g0011a0001c0002t0002g0084a0001c0004t0010g0012others(1): Show | 4 | HG02818.hp2 HG02886.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.989-2404T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523221 | ||||||
| chr15:48523328
|
T | C | 1 | a0001c0001t0001g0248 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.989-2511A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523328 | ||||||
| chr15:48523489
|
C | T | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.988+2641G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523489 | ||||||
| chr15:48523491
|
C | T | 1 | a0001c0001t0001g0178 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.988+2639G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523491 | ||||||
| chr15:48523707
|
G | T | 1 | a0001c0025t0008g0203 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.988+2423C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523707 | ||||||
| chr15:48523709
|
C | G | 1 | a0001c0025t0008g0203 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.988+2421G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523709 | ||||||
| chr15:48523710
|
T | G | 1 | a0001c0025t0008g0203 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.988+2420A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523710 | ||||||
| chr15:48523710
|
T | TG | 67 | a0001c0001t0001g0176a0001c0001t0001g0222a0001c0001t0001g0230others(64): Show | 67 | HG00544.hp2 HG00597.hp1 HG00673.hp1 others(64): Show |
intron_variant | MODIFIER | c.988+2419dupC | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523710 | ||||||
| chr15:48523710
|
TGGG | T | 54 | a0001c0001t0001g0229a0001c0002t0003g0025a0001c0002t0003g0026others(51): Show | 54 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(51): Show |
intron_variant | MODIFIER | c.988+2417_988+2419d others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523710 | ||||||
| chr15:48523714
|
G | GC | 31 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0092others(28): Show | 31 | HG00621.hp2 HG00673.hp2 HG01123.hp2 others(28): Show |
intron_variant | MODIFIER | c.988+2415_988+2416i others(3): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523714 | ||||||
| chr15:48523719
|
G | C | 53 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.988+2411C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523719 | ||||||
| chr15:48523719
|
G | T | 31 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0092others(28): Show | 31 | HG00621.hp2 HG00673.hp2 HG01123.hp2 others(28): Show |
intron_variant | MODIFIER | c.988+2411C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523719 | ||||||
| chr15:48523725
|
A | G | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.988+2405T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523725 | ||||||
| chr15:48523874
|
T | A | 1 | a0001c0001t0001g0259 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.988+2256A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523874 | ||||||
| chr15:48523883
|
G | A | 59 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0003g0025others(56): Show | 59 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(56): Show |
intron_variant | MODIFIER | c.988+2247C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523883 | ||||||
| chr15:48523973
|
A | G | 1 | a0001c0001t0001g0275 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.988+2157T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48523973 | ||||||
| chr15:48524089
|
G | T | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.988+2041C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48524089 | ||||||
| chr15:48524242
|
C | T | 1 | a0001c0001t0015g0097 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.988+1888G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48524242 | ||||||
| chr15:48524335
|
A | G | 2 | a0001c0004t0004g0055a0001c0004t0004g0063 | 2 | NA18993.hp1 NA19060.hp1 |
intron_variant | MODIFIER | c.988+1795T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48524335 | ||||||
| chr15:48524369
|
G | A | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.988+1761C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48524369 | ||||||
| chr15:48524399
|
C | T | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.988+1731G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48524399 | ||||||
| chr15:48524457
|
C | A | 53 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.988+1673G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48524457 | ||||||
| chr15:48524502
|
G | A | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.988+1628C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48524502 | ||||||
| chr15:48524615
|
A | C | 53 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.988+1515T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48524615 | ||||||
| chr15:48525017
|
T | C | 2 | a0001c0001t0002g0003a0004c0017t0002g0023 | 2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.988+1113A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48525017 | ||||||
| chr15:48525045
|
T | G | 1 | a0001c0005t0003g0209 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.988+1085A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48525045 | ||||||
| chr15:48525046
|
T | C | 2 | a0001c0001t0005g0136a0001c0001t0005g0280 | 2 | HG02572.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.988+1084A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48525046 | ||||||
| chr15:48525086
|
A | T | 1 | a0001c0001t0009g0274 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.988+1044T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48525086 | ||||||
| chr15:48525090
|
AT | A | 64 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(61): Show | 64 | HG00642.hp2 HG01167.hp2 HG01255.hp1 others(61): Show |
intron_variant | MODIFIER | c.988+1039delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48525090 | ||||||
| chr15:48525090
|
ATT | A | 99 | a0001c0002t0001g0051a0001c0002t0002g0005a0001c0002t0002g0006others(96): Show | 99 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(96): Show |
intron_variant | MODIFIER | c.988+1038_988+1039d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48525090 | ||||||
| chr15:48525148
|
G | A | 2 | a0001c0001t0010g0018a0001c0001t0010g0225 | 2 | HG01884.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.988+982C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48525148 | ||||||
| chr15:48525232
|
A | G | 154 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(151): Show | 154 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(151): Show |
intron_variant | MODIFIER | c.988+898T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48525232 | ||||||
| chr15:48525241
|
G | A | 1 | a0001c0002t0002g0284 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.988+889C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48525241 | ||||||
| chr15:48525467
|
A | G | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.988+663T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48525467 | ||||||
| chr15:48525474
|
T | C | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.988+656A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48525474 | ||||||
| chr15:48525614
|
C | G | 1 | a0001c0002t0001g0011 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.988+516G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48525614 | ||||||
| chr15:48525758
|
G | C | 6 | a0001c0001t0005g0136a0001c0001t0005g0141a0001c0001t0005g0280others(3): Show | 6 | HG02257.hp1 HG02572.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.988+372C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48525758 | ||||||
| chr15:48525841
|
A | T | 59 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0003g0025others(56): Show | 59 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(56): Show |
intron_variant | MODIFIER | c.988+289T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 9/65 | chr15 | 48525841 | ||||||
| chr15:48526487
|
C | G | 1 | a0001c0001t0001g0176 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.863-232G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48526487 | ||||||
| chr15:48526538
|
G | A | 23 | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0124others(20): Show | 23 | HG01167.hp2 HG01255.hp1 HG02257.hp2 others(20): Show |
intron_variant | MODIFIER | c.863-283C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48526538 | ||||||
| chr15:48526576
|
T | C | 1 | a0001c0002t0001g0011 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.863-321A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48526576 | ||||||
| chr15:48526619
|
C | T | 1 | a0001c0001t0001g0102 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.863-364G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48526619 | ||||||
| chr15:48526646
|
C | T | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0008g0133others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.863-391G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48526646 | ||||||
| chr15:48526711
|
T | C | 4 | a0002c0003t0006g0149a0002c0003t0006g0150a0002c0003t0006g0151others(1): Show | 4 | NA18986.hp1 NA18993.hp2 NA19007.hp2 others(1): Show |
intron_variant | MODIFIER | c.863-456A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48526711 | ||||||
| chr15:48526735
|
T | C | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0008g0133others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.863-480A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48526735 | ||||||
| chr15:48526904
|
A | T | 2 | a0001c0001t0001g0277a0001c0001t0001g0278 | 2 | HG02976.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.863-649T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48526904 | ||||||
| chr15:48526928
|
C | T | 39 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(36): Show | 39 | HG00642.hp2 HG01167.hp2 HG01255.hp1 others(36): Show |
intron_variant | MODIFIER | c.863-673G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48526928 | ||||||
| chr15:48527147
|
T | A | 1 | a0002c0003t0005g0156 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.863-892A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48527147 | ||||||
| chr15:48527305
|
G | A | 229 | a0001c0001t0001g0002a0001c0001t0001g0088a0001c0001t0001g0089others(226): Show | 229 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(226): Show |
intron_variant | MODIFIER | c.863-1050C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48527305 | ||||||
| chr15:48527347
|
T | A | 39 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(36): Show | 39 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(36): Show |
intron_variant | MODIFIER | c.863-1092A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48527347 | ||||||
| chr15:48527350
|
G | C | 1 | a0001c0001t0001g0242 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.863-1095C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48527350 | ||||||
| chr15:48527530
|
G | A | 6 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0117others(3): Show | 6 | NA18947.hp1 NA18956.hp2 NA18959.hp2 others(3): Show |
intron_variant | MODIFIER | c.863-1275C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48527530 | ||||||
| chr15:48527871
|
T | C | 167 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(164): Show | 167 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(164): Show |
intron_variant | MODIFIER | c.863-1616A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48527871 | ||||||
| chr15:48528184
|
C | A | 1 | a0001c0005t0003g0209 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.863-1929G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48528184 | ||||||
| chr15:48528222
|
A | G | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.863-1967T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48528222 | ||||||
| chr15:48528475
|
T | C | 39 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(36): Show | 39 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(36): Show |
intron_variant | MODIFIER | c.863-2220A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48528475 | ||||||
| chr15:48528510
|
C | A | 48 | a0001c0002t0001g0011a0001c0002t0001g0022a0001c0002t0001g0051others(45): Show | 48 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(45): Show |
intron_variant | MODIFIER | c.863-2255G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48528510 | ||||||
| chr15:48528618
|
G | A | 21 | a0001c0002t0001g0020a0001c0002t0001g0124a0001c0002t0001g0283others(18): Show | 21 | HG01167.hp2 HG01255.hp1 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.863-2363C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48528618 | ||||||
| chr15:48528704
|
T | C | 107 | a0001c0002t0001g0011a0001c0002t0001g0022a0001c0002t0001g0051others(104): Show | 107 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(104): Show |
intron_variant | MODIFIER | c.863-2449A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48528704 | ||||||
| chr15:48528851
|
G | A | 53 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.863-2596C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48528851 | ||||||
| chr15:48528916
|
G | A | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.863-2661C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48528916 | ||||||
| chr15:48528948
|
G | T | 1 | a0001c0002t0001g0011 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.863-2693C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48528948 | ||||||
| chr15:48529153
|
G | A | 53 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(50): Show | 53 | HG00642.hp2 HG01243.hp1 HG01255.hp1 others(50): Show |
intron_variant | MODIFIER | c.863-2898C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48529153 | ||||||
| chr15:48529177
|
T | C | 4 | a0001c0002t0001g0283a0001c0005t0003g0208a0001c0005t0003g0210others(1): Show | 4 | HG02965.hp2 HG02970.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.863-2922A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48529177 | ||||||
| chr15:48529182
|
A | G | 2 | a0001c0002t0002g0005a0001c0002t0002g0006 | 2 | HG03098.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.863-2927T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48529182 | ||||||
| chr15:48529507
|
G | A | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.863-3252C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48529507 | ||||||
| chr15:48529510
|
C | G | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0008g0133others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.863-3255G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48529510 | ||||||
| chr15:48529545
|
C | G | 52 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(49): Show | 52 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(49): Show |
intron_variant | MODIFIER | c.863-3290G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48529545 | ||||||
| chr15:48529624
|
CAAT | C | 4 | a0001c0001t0001g0093a0001c0001t0001g0118a0001c0001t0001g0119others(1): Show | 4 | NA18947.hp1 NA18959.hp2 NA19007.hp1 others(1): Show |
intron_variant | MODIFIER | c.863-3372_863-3370d others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48529624 | ||||||
| chr15:48529627
|
T | C | 52 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(49): Show | 52 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(49): Show |
intron_variant | MODIFIER | c.863-3372A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48529627 | ||||||
| chr15:48529729
|
CAA | C | 52 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(49): Show | 52 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(49): Show |
intron_variant | MODIFIER | c.863-3476_863-3475d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48529729 | ||||||
| chr15:48529810
|
T | G | 2 | a0001c0001t0002g0078a0001c0001t0002g0216 | 2 | HG02735.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.863-3555A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48529810 | ||||||
| chr15:48529838
|
TTTATCCA others(47): Show |
T | 23 | a0001c0001t0001g0117a0001c0001t0010g0225a0001c0001t0020g0070others(20): Show | 23 | HG01167.hp2 HG02257.hp2 HG02280.hp2 others(20): Show |
intron_variant | MODIFIER | c.863-3637_863-3584d others(56): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48529838 | ||||||
| chr15:48529863
|
G | A | 6 | a0001c0001t0005g0136a0001c0001t0005g0141a0001c0001t0005g0280others(3): Show | 6 | HG02257.hp1 HG02572.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.863-3608C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48529863 | ||||||
| chr15:48529894
|
T | C | 12 | a0001c0001t0010g0018a0001c0001t0011g0007a0001c0001t0011g0008others(9): Show | 12 | HG01243.hp1 HG01884.hp1 HG01884.hp2 others(9): Show |
intron_variant | MODIFIER | c.863-3639A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48529894 | ||||||
| chr15:48529916
|
C | T | 8 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(5): Show | 8 | HG01928.hp2 HG02027.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.863-3661G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48529916 | ||||||
| chr15:48529917
|
G | A | 1 | a0001c0002t0023g0034 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.863-3662C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48529917 | ||||||
| chr15:48529917
|
G | C | 7 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(4): Show | 7 | HG01928.hp2 HG02027.hp1 HG04115.hp2 others(4): Show |
intron_variant | MODIFIER | c.863-3662C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48529917 | ||||||
| chr15:48529948
|
T | C | 1 | a0001c0001t0010g0225 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.863-3693A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48529948 | ||||||
| chr15:48529964
|
G | GCCGCCCG others(47): Show |
6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0008g0133others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(3): Show |
intron_variant | MODIFIER | c.863-3710_863-3709i others(56): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48529964 | ||||||
| chr15:48530018
|
G | A | 12 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0003g0024others(9): Show | 12 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(9): Show |
intron_variant | MODIFIER | c.863-3763C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530018 | ||||||
| chr15:48530021
|
G | A | 24 | a0002c0003t0002g0145a0002c0003t0002g0147a0002c0003t0002g0148others(21): Show | 24 | HG01346.hp2 HG01981.hp2 HG02027.hp2 others(21): Show |
intron_variant | MODIFIER | c.863-3766C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530021 | ||||||
| chr15:48530021
|
G | GCCCGATC others(47): Show |
11 | a0002c0003t0001g0162a0002c0003t0005g0142a0002c0003t0005g0144others(8): Show | 11 | NA18945.hp2 NA18969.hp2 NA18971.hp1 others(8): Show |
intron_variant | MODIFIER | c.863-3767_863-3766i others(56): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530021 | ||||||
| chr15:48530075
|
G | A | 37 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(34): Show | 37 | HG01346.hp2 HG01981.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.863-3820C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530075 | ||||||
| chr15:48530075
|
G | GCCCGATC others(47): Show |
1 | a0002c0003t0005g0169 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.863-3821_863-3820i others(56): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530075 | ||||||
| chr15:48530076
|
CCCG | C | 4 | a0001c0002t0007g0127a0001c0005t0007g0200a0005c0016t0011g0123others(1): Show | 4 | HG01255.hp1 HG02451.hp1 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.863-3824_863-3822d others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530076 | ||||||
| chr15:48530078
|
C | CGATCACA others(152): Show |
1 | a0001c0001t0001g0131 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.863-3824_863-3823i others(161): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530078 | ||||||
| chr15:48530079
|
GATCACAA others(44): Show |
G | 50 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(47): Show | 50 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(47): Show |
intron_variant | MODIFIER | c.863-3875_863-3825d others(53): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530079 | ||||||
| chr15:48530079
|
GATCACAA others(98): Show |
G | 2 | a0001c0004t0004g0068a0001c0004t0004g0069 | 2 | HG03654.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.862+3896_863-3825d others(2): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530079 | ||||||
| chr15:48530129
|
G | GCATCACA others(47): Show |
1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.862+3897_863-3875d others(56): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530129 | ||||||
| chr15:48530129
|
G | GCCT | 3 | a0001c0002t0007g0127a0001c0005t0007g0200a0012c0011t0027g0213 | 3 | HG01255.hp1 HG02622.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.863-3875_863-3874i others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530129 | ||||||
| chr15:48530130
|
C | CCCG | 3 | a0001c0001t0001g0019a0001c0001t0001g0190a0001c0001t0002g0214 | 3 | HG02559.hp2 HG03516.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.863-3876_863-3875i others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530130 | ||||||
| chr15:48530130
|
C | CCCGATCA others(50): Show |
1 | a0001c0002t0001g0051 | 1 | NA18963.hp1 | intron_variant | MODIFIER | c.863-3876_863-3875i others(59): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530130 | ||||||
| chr15:48530130
|
C | CCTCATCA others(50): Show |
1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.863-3876_863-3875i others(59): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530130 | ||||||
| chr15:48530160
|
T | C | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.863-3905A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530160 | ||||||
| chr15:48530183
|
T | C | 52 | a0001c0001t0001g0019a0001c0002t0001g0051a0001c0002t0003g0025others(49): Show | 52 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(49): Show |
intron_variant | MODIFIER | c.862+3897A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530183 | ||||||
| chr15:48530184
|
C | G | 53 | a0001c0001t0001g0019a0001c0002t0001g0051a0001c0002t0003g0025others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.862+3896G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530184 | ||||||
| chr15:48530184
|
CATCACAA others(47): Show |
C | 1 | a0001c0001t0001g0088 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.862+3842_862+3895d others(56): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530184 | ||||||
| chr15:48530218
|
C | T | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.862+3862G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530218 | ||||||
| chr15:48530237
|
T | C | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.862+3843A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530237 | ||||||
| chr15:48530238
|
G | C | 150 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(147): Show | 150 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(147): Show |
intron_variant | MODIFIER | c.862+3842C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530238 | ||||||
| chr15:48530292
|
G | A | 1 | a0001c0004t0004g0064 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.862+3788C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530292 | ||||||
| chr15:48530292
|
G | C | 1 | a0002c0003t0005g0281 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.862+3788C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530292 | ||||||
| chr15:48530326
|
T | C | 1 | a0001c0022t0013g0010 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.862+3754A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530326 | ||||||
| chr15:48530430
|
C | T | 106 | a0001c0002t0001g0011a0001c0002t0001g0022a0001c0002t0001g0051others(103): Show | 106 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(103): Show |
intron_variant | MODIFIER | c.862+3650G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530430 | ||||||
| chr15:48530560
|
A | AT | 94 | a0001c0001t0005g0141a0001c0002t0001g0011a0001c0002t0001g0051others(91): Show | 94 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(91): Show |
intron_variant | MODIFIER | c.862+3519dupA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530560 | ||||||
| chr15:48530560
|
A | ATT | 13 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0003g0038others(10): Show | 13 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(10): Show |
intron_variant | MODIFIER | c.862+3518_862+3519d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530560 | ||||||
| chr15:48530573
|
T | C | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.862+3507A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530573 | ||||||
| chr15:48530586
|
TAG | T | 9 | a0001c0002t0001g0011a0001c0002t0001g0022a0001c0002t0003g0024others(6): Show | 9 | HG02723.hp2 HG02818.hp2 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.862+3492_862+3493d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530586 | ||||||
| chr15:48530882
|
C | T | 2 | a0001c0001t0005g0136a0001c0001t0005g0280 | 2 | HG02572.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.862+3198G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530882 | ||||||
| chr15:48530946
|
A | C | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.862+3134T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48530946 | ||||||
| chr15:48531105
|
C | CTG | 158 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(155): Show | 158 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(155): Show |
intron_variant | MODIFIER | c.862+2974_862+2975i others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48531105 | ||||||
| chr15:48531323
|
A | C | 1 | a0001c0005t0007g0207 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.862+2757T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48531323 | ||||||
| chr15:48531426
|
G | C | 60 | a0001c0002t0001g0051a0001c0002t0002g0005a0001c0002t0002g0006others(57): Show | 60 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(57): Show |
intron_variant | MODIFIER | c.862+2654C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48531426 | ||||||
| chr15:48531499
|
A | G | 5 | a0001c0001t0001g0132a0001c0001t0001g0178a0001c0001t0001g0180others(2): Show | 5 | NA18960.hp1 NA18965.hp1 NA18968.hp2 others(2): Show |
intron_variant | MODIFIER | c.862+2581T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48531499 | ||||||
| chr15:48531573
|
A | G | 50 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(47): Show | 50 | HG00642.hp2 HG01167.hp2 HG01243.hp1 others(47): Show |
intron_variant | MODIFIER | c.862+2507T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48531573 | ||||||
| chr15:48531650
|
G | A | 2 | a0002c0003t0002g0145a0002c0003t0002g0155 | 2 | NA18965.hp2 NA19003.hp1 |
intron_variant | MODIFIER | c.862+2430C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48531650 | ||||||
| chr15:48531755
|
T | C | 1 | a0001c0001t0002g0078 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.862+2325A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48531755 | ||||||
| chr15:48531816
|
G | T | 1 | a0001c0001t0011g0009 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.862+2264C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48531816 | ||||||
| chr15:48531891
|
A | C | 5 | a0001c0001t0005g0136a0001c0001t0005g0280a0001c0001t0008g0121others(2): Show | 5 | HG02257.hp1 HG02572.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.862+2189T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48531891 | ||||||
| chr15:48532123
|
A | C | 1 | a0001c0001t0005g0141 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.862+1957T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532123 | ||||||
| chr15:48532212
|
G | A | 1 | a0001c0001t0002g0071 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.862+1868C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532212 | ||||||
| chr15:48532283
|
A | G | 4 | a0001c0002t0002g0125a0001c0002t0002g0126a0001c0002t0002g0282others(1): Show | 4 | HG02257.hp2 HG02280.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.862+1797T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532283 | ||||||
| chr15:48532397
|
TGTTAA | T | 20 | a0001c0002t0001g0020a0001c0002t0001g0124a0001c0002t0001g0283others(17): Show | 20 | HG01167.hp2 HG01255.hp1 HG02257.hp2 others(17): Show |
intron_variant | MODIFIER | c.862+1678_862+1682d others(7): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532397 | ||||||
| chr15:48532476
|
A | ATG | 40 | a0001c0002t0001g0051a0001c0002t0003g0026a0002c0003t0001g0162others(37): Show | 40 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(37): Show |
intron_variant | MODIFIER | c.862+1602_862+1603d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532476 | ||||||
| chr15:48532476
|
ATG | A | 5 | a0001c0001t0002g0091a0001c0001t0012g0113a0001c0001t0012g0114others(2): Show | 5 | HG01167.hp1 HG02258.hp2 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.862+1602_862+1603d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532476 | ||||||
| chr15:48532478
|
GTGTGTGT others(21): Show |
G | 2 | a0001c0001t0011g0008a0001c0001t0011g0009 | 2 | HG01243.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.862+1574_862+1601d others(30): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532478 | ||||||
| chr15:48532490
|
G | A | 5 | a0001c0001t0002g0214a0001c0004t0004g0049a0001c0004t0004g0065others(2): Show | 5 | HG03516.hp1 NA18992.hp1 NA19000.hp1 others(2): Show |
intron_variant | MODIFIER | c.862+1590C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532490 | ||||||
| chr15:48532500
|
A | ATATGTGT others(7): Show |
14 | a0001c0002t0001g0011a0001c0002t0001g0022a0001c0002t0003g0024others(11): Show | 14 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.862+1579_862+1580i others(16): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532500 | ||||||
| chr15:48532500
|
A | ATATGTGT others(9): Show |
48 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(45): Show | 48 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(45): Show |
intron_variant | MODIFIER | c.862+1579_862+1580i others(18): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532500 | ||||||
| chr15:48532500
|
A | ATATGTGT others(11): Show |
1 | a0008c0013t0003g0028 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.862+1579_862+1580i others(20): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532500 | ||||||
| chr15:48532506
|
A | ATGTGTGT others(7): Show |
5 | a0001c0002t0003g0026a0001c0004t0004g0049a0001c0004t0004g0065others(2): Show | 5 | HG02698.hp1 NA18992.hp1 NA19000.hp1 others(2): Show |
intron_variant | MODIFIER | c.862+1560_862+1573d others(16): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532506 | ||||||
| chr15:48532506
|
A | ATGTGTGT others(9): Show |
38 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(35): Show | 38 | HG00597.hp1 HG01346.hp2 HG01981.hp2 others(35): Show |
intron_variant | MODIFIER | c.862+1558_862+1573d others(18): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532506 | ||||||
| chr15:48532506
|
A | ATGTGTGT others(11): Show |
1 | a0002c0003t0005g0170 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.862+1573_862+1574i others(20): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532506 | ||||||
| chr15:48532506
|
A | G | 63 | a0001c0002t0001g0011a0001c0002t0001g0022a0001c0002t0002g0005others(60): Show | 63 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(60): Show |
intron_variant | MODIFIER | c.862+1574T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532506 | ||||||
| chr15:48532524
|
A | G | 59 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(56): Show | 59 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(56): Show |
intron_variant | MODIFIER | c.862+1556T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532524 | ||||||
| chr15:48532599
|
A | G | 1 | a0001c0001t0009g0273 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.862+1481T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532599 | ||||||
| chr15:48532606
|
T | C | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.862+1474A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532606 | ||||||
| chr15:48532611
|
G | A | 4 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135others(1): Show | 4 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.862+1469C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532611 | ||||||
| chr15:48532682
|
A | G | 2 | a0002c0009t0001g0211a0002c0009t0001g0212 | 2 | HG02809.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.862+1398T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532682 | ||||||
| chr15:48532866
|
T | A | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.862+1214A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532866 | ||||||
| chr15:48532955
|
A | G | 5 | a0001c0001t0005g0136a0001c0001t0005g0280a0001c0001t0008g0121others(2): Show | 5 | HG02257.hp1 HG02572.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.862+1125T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48532955 | ||||||
| chr15:48533035
|
G | A | 1 | a0001c0002t0003g0024 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.862+1045C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48533035 | ||||||
| chr15:48533158
|
T | C | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.862+922A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48533158 | ||||||
| chr15:48533200
|
A | T | 1 | a0001c0001t0002g0081 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.862+880T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48533200 | ||||||
| chr15:48533710
|
C | T | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.862+370G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48533710 | ||||||
| chr15:48533809
|
G | T | 1 | a0001c0001t0001g0240 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.862+271C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48533809 | ||||||
| chr15:48533848
|
G | A | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.862+232C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 8/65 | chr15 | 48533848 | ||||||
| chr15:48534224
|
CAG | C | 37 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.737-21_737-20delCT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48534224 | ||||||
| chr15:48534230
|
GA | G | 53 | a0001c0002t0001g0051a0001c0002t0003g0025a0001c0002t0003g0026others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.737-26delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48534230 | ||||||
| chr15:48534258
|
T | C | 37 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.737-53A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48534258 | ||||||
| chr15:48534284
|
C | T | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.737-79G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48534284 | ||||||
| chr15:48534720
|
C | A | 60 | a0001c0002t0001g0051a0001c0002t0002g0005a0001c0002t0002g0006others(57): Show | 60 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(57): Show |
intron_variant | MODIFIER | c.737-515G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48534720 | ||||||
| chr15:48534820
|
G | A | 9 | a0001c0001t0001g0128a0001c0001t0001g0279a0001c0001t0005g0136others(6): Show | 9 | HG02257.hp1 HG02572.hp2 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.737-615C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48534820 | ||||||
| chr15:48534876
|
C | T | 6 | a0001c0001t0001g0098a0001c0001t0001g0110a0001c0001t0001g0226others(3): Show | 6 | HG01123.hp2 HG01192.hp2 HG01257.hp2 others(3): Show |
intron_variant | MODIFIER | c.737-671G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48534876 | ||||||
| chr15:48534937
|
G | C | 1 | a0001c0001t0001g0248 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.737-732C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48534937 | ||||||
| chr15:48534947
|
T | C | 169 | a0001c0001t0001g0128a0001c0001t0001g0279a0001c0001t0002g0003others(166): Show | 169 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(166): Show |
intron_variant | MODIFIER | c.737-742A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48534947 | ||||||
| chr15:48534948
|
G | A | 37 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.737-743C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48534948 | ||||||
| chr15:48534958
|
G | A | 7 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(4): Show | 7 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.737-753C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48534958 | ||||||
| chr15:48535216
|
C | T | 1 | a0001c0002t0001g0022 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.737-1011G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48535216 | ||||||
| chr15:48535416
|
A | G | 1 | a0001c0004t0004g0083 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.737-1211T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48535416 | ||||||
| chr15:48535964
|
A | C | 97 | a0001c0002t0001g0051a0001c0002t0002g0005a0001c0002t0002g0006others(94): Show | 97 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(94): Show |
intron_variant | MODIFIER | c.736+1647T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48535964 | ||||||
| chr15:48536024
|
C | G | 9 | a0001c0002t0001g0011a0001c0002t0001g0022a0001c0002t0003g0024others(6): Show | 9 | HG02723.hp2 HG02818.hp2 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.736+1587G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48536024 | ||||||
| chr15:48536082
|
A | G | 106 | a0001c0002t0001g0011a0001c0002t0001g0022a0001c0002t0001g0051others(103): Show | 106 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(103): Show |
intron_variant | MODIFIER | c.736+1529T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48536082 | ||||||
| chr15:48536113
|
GAAA | G | 7 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(4): Show | 7 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.736+1495_736+1497d others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48536113 | ||||||
| chr15:48536117
|
AAAC | A | 37 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.736+1491_736+1493d others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48536117 | ||||||
| chr15:48536199
|
A | G | 53 | a0001c0002t0001g0051a0001c0002t0003g0025a0001c0002t0003g0026others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.736+1412T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48536199 | ||||||
| chr15:48536274
|
G | A | 4 | a0001c0002t0003g0025a0001c0002t0003g0035a0001c0002t0003g0036others(1): Show | 4 | HG00741.hp2 HG01175.hp2 HG01978.hp1 others(1): Show |
intron_variant | MODIFIER | c.736+1337C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48536274 | ||||||
| chr15:48536353
|
C | A | 1 | a0001c0002t0003g0030 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.736+1258G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48536353 | ||||||
| chr15:48536354
|
C | A | 37 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.736+1257G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48536354 | ||||||
| chr15:48536731
|
A | C | 1 | a0002c0003t0005g0165 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.736+880T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48536731 | ||||||
| chr15:48536816
|
A | G | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.736+795T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48536816 | ||||||
| chr15:48536825
|
T | C | 1 | a0009c0014t0001g0227 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.736+786A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48536825 | ||||||
| chr15:48536849
|
C | T | 4 | a0001c0001t0001g0231a0001c0001t0001g0235a0001c0001t0001g0237others(1): Show | 4 | HG00597.hp2 NA18944.hp1 NA19077.hp1 others(1): Show |
intron_variant | MODIFIER | c.736+762G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48536849 | ||||||
| chr15:48537023
|
A | G | 1 | a0001c0002t0008g0285 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.736+588T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48537023 | ||||||
| chr15:48537046
|
C | A | 1 | a0001c0024t0010g0195 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.736+565G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48537046 | ||||||
| chr15:48537064
|
G | A | 52 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(49): Show | 52 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(49): Show |
intron_variant | MODIFIER | c.736+547C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48537064 | ||||||
| chr15:48537211
|
C | T | 7 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(4): Show | 7 | HG02723.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.736+400G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48537211 | ||||||
| chr15:48537214
|
C | T | 1 | a0001c0001t0001g0238 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.736+397G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48537214 | ||||||
| chr15:48537455
|
C | T | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.736+156G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48537455 | ||||||
| chr15:48537493
|
C | T | 2 | a0001c0002t0003g0039a0001c0002t0003g0042 | 2 | HG01255.hp2 HG02602.hp2 |
intron_variant | MODIFIER | c.736+118G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48537493 | ||||||
| chr15:48537521
|
T | A | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.736+90A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 7/65 | chr15 | 48537521 | ||||||
| chr15:48537904
|
G | C | 1 | a0001c0001t0001g0100 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.539-96C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48537904 | ||||||
| chr15:48538313
|
T | C | 1 | a0001c0002t0001g0020 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.539-505A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48538313 | ||||||
| chr15:48538408
|
T | C | 1 | a0001c0001t0001g0181 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.539-600A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48538408 | ||||||
| chr15:48538460
|
A | C | 2 | a0001c0001t0001g0096a0001c0001t0025g0109 | 2 | HG01258.hp2 HG03490.hp2 |
intron_variant | MODIFIER | c.539-652T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48538460 | ||||||
| chr15:48538504
|
T | C | 9 | a0001c0002t0001g0011a0001c0002t0001g0022a0001c0002t0003g0024others(6): Show | 9 | HG02723.hp2 HG02818.hp2 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.539-696A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48538504 | ||||||
| chr15:48538584
|
C | CT | 42 | a0001c0002t0001g0051a0001c0002t0008g0133a0001c0002t0008g0134others(39): Show | 42 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(39): Show |
intron_variant | MODIFIER | c.539-777dupA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48538584 | ||||||
| chr15:48538733
|
G | A | 1 | a0001c0001t0001g0182 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.539-925C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48538733 | ||||||
| chr15:48538735
|
C | T | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.539-927G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48538735 | ||||||
| chr15:48538784
|
A | G | 4 | a0001c0001t0001g0128a0001c0001t0001g0279a0001c0001t0005g0141others(1): Show | 4 | HG02630.hp2 HG02717.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.539-976T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48538784 | ||||||
| chr15:48538821
|
T | C | 3 | a0001c0005t0007g0205a0001c0005t0007g0206a0001c0005t0007g0207 | 3 | HG02976.hp2 NA19030.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.539-1013A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48538821 | ||||||
| chr15:48538873
|
T | A | 1 | a0001c0001t0001g0266 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.539-1065A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48538873 | ||||||
| chr15:48539015
|
C | A | 52 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(49): Show | 52 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(49): Show |
intron_variant | MODIFIER | c.539-1207G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48539015 | ||||||
| chr15:48539058
|
G | A | 1 | a0001c0001t0009g0257 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.539-1250C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48539058 | ||||||
| chr15:48539197
|
G | A | 52 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(49): Show | 52 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(49): Show |
intron_variant | MODIFIER | c.539-1389C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48539197 | ||||||
| chr15:48539385
|
C | G | 38 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(35): Show | 38 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(35): Show |
intron_variant | MODIFIER | c.539-1577G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48539385 | ||||||
| chr15:48539665
|
T | G | 1 | a0001c0001t0002g0073 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.539-1857A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48539665 | ||||||
| chr15:48539667
|
T | C | 40 | a0001c0002t0001g0020a0001c0002t0001g0051a0001c0002t0003g0044others(37): Show | 40 | HG00597.hp1 HG01167.hp2 HG01346.hp2 others(37): Show |
intron_variant | MODIFIER | c.539-1859A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48539667 | ||||||
| chr15:48539755
|
T | C | 9 | a0001c0002t0001g0011a0001c0002t0001g0022a0001c0002t0003g0024others(6): Show | 9 | HG02723.hp2 HG02818.hp2 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.539-1947A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48539755 | ||||||
| chr15:48539796
|
C | CT | 9 | a0001c0002t0001g0011a0001c0002t0001g0022a0001c0002t0003g0024others(6): Show | 9 | HG02723.hp2 HG02818.hp2 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.539-1989dupA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48539796 | ||||||
| chr15:48539841
|
T | G | 1 | a0001c0001t0001g0254 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.539-2033A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48539841 | ||||||
| chr15:48540435
|
C | G | 1 | a0001c0002t0008g0135 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.539-2627G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48540435 | ||||||
| chr15:48540465
|
T | C | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.539-2657A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48540465 | ||||||
| chr15:48540528
|
A | C | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.539-2720T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48540528 | ||||||
| chr15:48540604
|
A | G | 1 | a0001c0004t0004g0055 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.539-2796T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48540604 | ||||||
| chr15:48541118
|
A | AC | 9 | a0001c0002t0001g0011a0001c0002t0001g0022a0001c0002t0003g0024others(6): Show | 9 | HG02723.hp2 HG02818.hp2 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.539-3311_539-3310i others(3): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48541118 | ||||||
| chr15:48541120
|
C | A | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.539-3312G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48541120 | ||||||
| chr15:48541429
|
T | A | 1 | a0002c0003t0005g0281 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.539-3621A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48541429 | ||||||
| chr15:48541544
|
C | A | 1 | a0001c0001t0001g0249 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.539-3736G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48541544 | ||||||
| chr15:48541616
|
A | G | 2 | a0002c0009t0001g0211a0002c0009t0001g0212 | 2 | HG02809.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.539-3808T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48541616 | ||||||
| chr15:48541727
|
C | CT | 19 | a0001c0001t0001g0132a0001c0001t0001g0178a0001c0001t0001g0180others(16): Show | 19 | HG00408.hp1 HG00597.hp2 HG01255.hp2 others(16): Show |
intron_variant | MODIFIER | c.539-3920dupA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48541727 | ||||||
| chr15:48541727
|
C | CTT | 8 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(5): Show | 8 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.539-3921_539-3920d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48541727 | ||||||
| chr15:48541727
|
C | CTTT | 8 | a0001c0002t0001g0011a0001c0002t0001g0022a0001c0002t0003g0024others(5): Show | 8 | HG02723.hp2 HG02818.hp2 HG02886.hp1 others(5): Show |
intron_variant | MODIFIER | c.539-3922_539-3920d others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48541727 | ||||||
| chr15:48541727
|
CT | C | 50 | a0001c0001t0001g0131a0001c0001t0002g0003a0001c0001t0002g0071others(47): Show | 50 | HG00642.hp2 HG01243.hp1 HG01255.hp1 others(47): Show |
intron_variant | MODIFIER | c.539-3920delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48541727 | ||||||
| chr15:48541743
|
T | TTTC | 34 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(31): Show | 34 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(31): Show |
intron_variant | MODIFIER | c.539-3936_539-3935i others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48541743 | ||||||
| chr15:48541809
|
C | G | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.539-4001G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48541809 | ||||||
| chr15:48542049
|
G | T | 1 | a0001c0021t0001g0218 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.539-4241C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542049 | ||||||
| chr15:48542550
|
T | C | 1 | a0001c0001t0002g0079 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.539-4742A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542550 | ||||||
| chr15:48542663
|
A | G | 228 | a0001c0001t0001g0002a0001c0001t0001g0088a0001c0001t0001g0089others(225): Show | 228 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(225): Show |
intron_variant | MODIFIER | c.539-4855T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542663 | ||||||
| chr15:48542781
|
A | ATG | 54 | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0131others(51): Show | 54 | HG00597.hp1 HG00642.hp1 HG01167.hp1 others(51): Show |
intron_variant | MODIFIER | c.539-4975_539-4974d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542781 | ||||||
| chr15:48542781
|
A | ATGTG | 48 | a0001c0001t0001g0002a0001c0001t0001g0093a0001c0001t0001g0096others(45): Show | 48 | HG00099.hp1 HG00621.hp2 HG01123.hp1 others(45): Show |
intron_variant | MODIFIER | c.539-4977_539-4974d others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542781 | ||||||
| chr15:48542781
|
A | ATGTGTG | 30 | a0001c0001t0001g0088a0001c0001t0001g0092a0001c0001t0001g0094others(27): Show | 30 | HG00673.hp1 HG00673.hp2 HG01257.hp1 others(27): Show |
intron_variant | MODIFIER | c.539-4979_539-4974d others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542781 | ||||||
| chr15:48542781
|
A | ATGTGTGT others(1): Show |
31 | a0001c0001t0001g0001a0001c0001t0001g0089a0001c0001t0001g0103others(28): Show | 31 | HG00099.hp2 HG00621.hp1 HG00741.hp2 others(28): Show |
intron_variant | MODIFIER | c.539-4981_539-4974d others(10): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542781 | ||||||
| chr15:48542781
|
A | ATGTGTGT others(3): Show |
12 | a0001c0001t0001g0107a0001c0001t0001g0177a0001c0001t0002g0091others(9): Show | 12 | HG00544.hp1 HG01106.hp1 HG01175.hp2 others(9): Show |
intron_variant | MODIFIER | c.539-4983_539-4974d others(12): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542781 | ||||||
| chr15:48542781
|
A | ATGTGTGT others(5): Show |
2 | a0001c0001t0001g0176a0001c0001t0001g0254 | 2 | HG02135.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.539-4985_539-4974d others(14): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542781 | ||||||
| chr15:48542781
|
A | ATGTGTGT others(7): Show |
2 | a0001c0001t0001g0265a0001c0001t0009g0267 | 2 | HG00544.hp2 HG01928.hp1 |
intron_variant | MODIFIER | c.539-4987_539-4974d others(16): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542781 | ||||||
| chr15:48542781
|
ATG | A | 13 | a0001c0001t0001g0102a0001c0002t0003g0044a0001c0002t0003g0082others(10): Show | 13 | HG02056.hp1 HG02165.hp1 HG02451.hp1 others(10): Show |
intron_variant | MODIFIER | c.539-4975_539-4974d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542781 | ||||||
| chr15:48542781
|
ATGTG | A | 4 | a0001c0001t0001g0100a0001c0001t0005g0136a0001c0001t0005g0280others(1): Show | 4 | HG02572.hp2 HG03041.hp2 HG03831.hp2 others(1): Show |
intron_variant | MODIFIER | c.539-4977_539-4974d others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542781 | ||||||
| chr15:48542781
|
ATGTGTG | A | 4 | a0001c0001t0001g0231a0001c0001t0001g0235a0001c0001t0001g0244others(1): Show | 4 | HG00597.hp2 HG02258.hp1 NA18944.hp1 others(1): Show |
intron_variant | MODIFIER | c.539-4979_539-4974d others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542781 | ||||||
| chr15:48542781
|
ATGTGTGT others(1): Show |
A | 17 | a0001c0001t0001g0090a0001c0001t0001g0117a0001c0001t0001g0120others(14): Show | 17 | HG00408.hp1 NA18946.hp1 NA18954.hp1 others(14): Show |
intron_variant | MODIFIER | c.539-4981_539-4974d others(10): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542781 | ||||||
| chr15:48542781
|
ATGTGTGT others(3): Show |
A | 25 | a0001c0001t0001g0230a0001c0001t0001g0232a0001c0001t0001g0233others(22): Show | 25 | HG00741.hp1 HG01106.hp2 HG01175.hp1 others(22): Show |
intron_variant | MODIFIER | c.539-4983_539-4974d others(12): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542781 | ||||||
| chr15:48542781
|
ATGTGTGT others(9): Show |
A | 1 | a0001c0001t0002g0072 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.539-4989_539-4974d others(18): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542781 | ||||||
| chr15:48542781
|
ATGTGTGT others(11): Show |
A | 15 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0073others(12): Show | 15 | HG00642.hp2 HG01361.hp1 HG01981.hp1 others(12): Show |
intron_variant | MODIFIER | c.539-4991_539-4974d others(20): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542781 | ||||||
| chr15:48542831
|
A | G | 4 | a0001c0001t0001g0002a0001c0001t0001g0130a0001c0001t0001g0131others(1): Show | 4 | HG02559.hp2 HG02615.hp2 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.539-5023T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542831 | ||||||
| chr15:48542833
|
T | A | 4 | a0001c0001t0001g0002a0001c0001t0001g0130a0001c0001t0001g0131others(1): Show | 4 | HG02559.hp2 HG02615.hp2 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.539-5025A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542833 | ||||||
| chr15:48542843
|
T | C | 13 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0001t0011g0007others(10): Show | 13 | HG01243.hp1 HG01884.hp1 HG01884.hp2 others(10): Show |
intron_variant | MODIFIER | c.539-5035A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542843 | ||||||
| chr15:48542889
|
T | C | 1 | a0001c0002t0001g0020 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.539-5081A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542889 | ||||||
| chr15:48542963
|
G | C | 7 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(4): Show | 7 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.539-5155C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48542963 | ||||||
| chr15:48543068
|
CTTTA | C | 37 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.539-5264_539-5261d others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48543068 | ||||||
| chr15:48543158
|
T | C | 124 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(121): Show | 124 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(121): Show |
intron_variant | MODIFIER | c.539-5350A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48543158 | ||||||
| chr15:48543214
|
C | G | 1 | a0001c0001t0005g0223 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.539-5406G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48543214 | ||||||
| chr15:48543260
|
C | T | 1 | a0001c0001t0002g0087 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.539-5452G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48543260 | ||||||
| chr15:48543261
|
C | T | 3 | a0001c0001t0012g0113a0001c0001t0012g0114a0007c0019t0012g0115 | 3 | HG01167.hp1 NA18522.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.539-5453G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48543261 | ||||||
| chr15:48543628
|
T | C | 13 | a0002c0003t0006g0149a0002c0003t0006g0150a0002c0003t0006g0151others(10): Show | 13 | HG01346.hp2 HG02027.hp2 HG02080.hp2 others(10): Show |
intron_variant | MODIFIER | c.539-5820A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48543628 | ||||||
| chr15:48543728
|
C | A | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.539-5920G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48543728 | ||||||
| chr15:48543738
|
C | T | 147 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(144): Show | 147 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(144): Show |
intron_variant | MODIFIER | c.539-5930G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48543738 | ||||||
| chr15:48543848
|
A | G | 2 | a0002c0009t0001g0211a0002c0009t0001g0212 | 2 | HG02809.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.539-6040T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48543848 | ||||||
| chr15:48543860
|
C | T | 1 | a0006c0018t0001g0179 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.539-6052G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48543860 | ||||||
| chr15:48543922
|
T | C | 104 | a0001c0002t0001g0011a0001c0002t0001g0022a0001c0002t0001g0051others(101): Show | 104 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(101): Show |
intron_variant | MODIFIER | c.539-6114A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48543922 | ||||||
| chr15:48544758
|
A | G | 2 | a0001c0001t0002g0075a0001c0001t0002g0076 | 2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.539-6950T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48544758 | ||||||
| chr15:48545101
|
G | A | 38 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(35): Show | 38 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(35): Show |
intron_variant | MODIFIER | c.539-7293C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48545101 | ||||||
| chr15:48545114
|
T | A | 1 | a0001c0001t0001g0236 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.539-7306A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48545114 | ||||||
| chr15:48545253
|
T | A | 38 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(35): Show | 38 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(35): Show |
intron_variant | MODIFIER | c.539-7445A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48545253 | ||||||
| chr15:48545427
|
T | G | 1 | a0001c0022t0013g0010 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.539-7619A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48545427 | ||||||
| chr15:48545439
|
T | C | 1 | a0001c0002t0001g0022 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.539-7631A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48545439 | ||||||
| chr15:48545541
|
A | G | 38 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(35): Show | 38 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(35): Show |
intron_variant | MODIFIER | c.539-7733T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48545541 | ||||||
| chr15:48545563
|
G | A | 1 | a0001c0001t0001g0183 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.539-7755C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48545563 | ||||||
| chr15:48545685
|
GTTAAAAT others(8): Show |
G | 1 | a0001c0002t0001g0020 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.539-7892_539-7878d others(17): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48545685 | ||||||
| chr15:48545733
|
A | G | 4 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135others(1): Show | 4 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.539-7925T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48545733 | ||||||
| chr15:48545806
|
C | G | 38 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(35): Show | 38 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(35): Show |
intron_variant | MODIFIER | c.539-7998G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48545806 | ||||||
| chr15:48546043
|
C | T | 2 | a0001c0001t0008g0121a0003c0008t0005g0122 | 2 | HG02257.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.539-8235G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48546043 | ||||||
| chr15:48546141
|
C | T | 1 | a0001c0002t0001g0020 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.539-8333G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48546141 | ||||||
| chr15:48546162
|
C | T | 25 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(22): Show | 25 | HG00597.hp1 HG02293.hp1 HG02809.hp1 others(22): Show |
intron_variant | MODIFIER | c.539-8354G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48546162 | ||||||
| chr15:48546217
|
A | C | 6 | a0001c0002t0001g0011a0001c0002t0001g0022a0001c0002t0003g0024others(3): Show | 6 | HG02723.hp2 HG02818.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.539-8409T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48546217 | ||||||
| chr15:48546328
|
A | T | 1 | a0001c0004t0004g0058 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.539-8520T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48546328 | ||||||
| chr15:48546609
|
G | A | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.539-8801C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48546609 | ||||||
| chr15:48546803
|
T | G | 4 | a0001c0002t0001g0283a0001c0005t0003g0208a0001c0005t0003g0210others(1): Show | 4 | HG02965.hp2 HG02970.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.539-8995A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48546803 | ||||||
| chr15:48546822
|
A | G | 103 | a0001c0002t0001g0011a0001c0002t0001g0022a0001c0002t0001g0051others(100): Show | 103 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(100): Show |
intron_variant | MODIFIER | c.539-9014T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48546822 | ||||||
| chr15:48546837
|
C | T | 3 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0001g0190 | 3 | HG02559.hp2 HG02615.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.539-9029G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48546837 | ||||||
| chr15:48546868
|
G | A | 103 | a0001c0002t0001g0011a0001c0002t0001g0022a0001c0002t0001g0051others(100): Show | 103 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(100): Show |
intron_variant | MODIFIER | c.539-9060C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48546868 | ||||||
| chr15:48546885
|
G | A | 1 | a0001c0002t0001g0020 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.539-9077C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48546885 | ||||||
| chr15:48547316
|
G | C | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.539-9508C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48547316 | ||||||
| chr15:48547375
|
C | T | 1 | a0001c0001t0011g0007 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.539-9567G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48547375 | ||||||
| chr15:48547392
|
G | GGGAATCC others(28): Show |
1 | a0001c0004t0004g0058 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.539-9619_539-9585d others(37): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48547392 | ||||||
| chr15:48547473
|
T | C | 1 | a0001c0002t0001g0020 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.539-9665A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48547473 | ||||||
| chr15:48547721
|
T | TCA | 13 | a0001c0001t0001g0176a0001c0001t0001g0188a0001c0001t0001g0222others(10): Show | 13 | HG00673.hp1 HG01106.hp2 HG01257.hp1 others(10): Show |
intron_variant | MODIFIER | c.539-9915_539-9914d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48547721 | ||||||
| chr15:48547721
|
TCA | T | 28 | a0001c0001t0001g0019a0001c0001t0001g0095a0001c0001t0001g0098others(25): Show | 28 | HG00741.hp1 HG01175.hp1 HG01257.hp2 others(25): Show |
intron_variant | MODIFIER | c.539-9915_539-9914d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48547721 | ||||||
| chr15:48547721
|
TCACA | T | 18 | a0001c0001t0001g0001a0001c0001t0001g0096a0001c0001t0001g0104others(15): Show | 18 | HG00597.hp2 HG00621.hp2 HG01258.hp2 others(15): Show |
intron_variant | MODIFIER | c.539-9917_539-9914d others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48547721 | ||||||
| chr15:48547721
|
TCACACA | T | 28 | a0001c0001t0001g0002a0001c0001t0001g0088a0001c0001t0001g0089others(25): Show | 28 | HG00408.hp1 HG00621.hp1 HG00673.hp2 others(25): Show |
intron_variant | MODIFIER | c.539-9919_539-9914d others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48547721 | ||||||
| chr15:48547721
|
TCACACAC others(1): Show |
T | 36 | a0001c0001t0001g0090a0001c0001t0001g0094a0001c0001t0001g0100others(33): Show | 36 | HG02257.hp2 HG02280.hp1 HG02280.hp2 others(33): Show |
intron_variant | MODIFIER | c.539-9921_539-9914d others(10): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48547721 | ||||||
| chr15:48547721
|
TCACACAC others(3): Show |
T | 20 | a0001c0001t0001g0101a0001c0001t0001g0128a0001c0001t0001g0279others(17): Show | 20 | HG01167.hp2 HG01255.hp1 HG01361.hp1 others(17): Show |
intron_variant | MODIFIER | c.539-9923_539-9914d others(12): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48547721 | ||||||
| chr15:48547721
|
TCACACAC others(5): Show |
T | 27 | a0001c0001t0002g0071a0001c0001t0002g0072a0001c0001t0002g0074others(24): Show | 27 | HG00642.hp1 HG00642.hp2 HG01517.hp2 others(24): Show |
intron_variant | MODIFIER | c.539-9925_539-9914d others(14): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48547721 | ||||||
| chr15:48547721
|
TCACACAC others(7): Show |
T | 50 | a0001c0001t0005g0221a0001c0002t0003g0025a0001c0002t0003g0026others(47): Show | 50 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(47): Show |
intron_variant | MODIFIER | c.539-9927_539-9914d others(16): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48547721 | ||||||
| chr15:48547721
|
TCACACAC others(9): Show |
T | 3 | a0001c0002t0003g0039a0001c0002t0003g0042a0001c0004t0004g0067 | 3 | HG01255.hp2 HG02602.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.539-9929_539-9914d others(18): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48547721 | ||||||
| chr15:48547721
|
TCACACAC others(13): Show |
T | 1 | a0001c0004t0004g0138 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.539-9933_539-9914d others(22): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48547721 | ||||||
| chr15:48547721
|
TCACACAC others(19): Show |
T | 1 | a0001c0002t0018g0253 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.539-9939_539-9914d others(28): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48547721 | ||||||
| chr15:48547721
|
TCACACAC others(21): Show |
T | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.539-9941_539-9914d others(30): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48547721 | ||||||
| chr15:48547721
|
TCACACAC others(25): Show |
T | 2 | a0002c0003t0005g0142a0002c0003t0005g0146 | 2 | NA18971.hp1 NA19002.hp1 |
intron_variant | MODIFIER | c.539-9945_539-9914d others(34): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48547721 | ||||||
| chr15:48547721
|
TCACACAC others(27): Show |
T | 34 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(31): Show | 34 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(31): Show |
intron_variant | MODIFIER | c.539-9947_539-9914d others(36): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48547721 | ||||||
| chr15:48547986
|
C | G | 37 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.539-10178G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48547986 | ||||||
| chr15:48547988
|
G | A | 1 | a0001c0001t0002g0091 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.539-10180C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48547988 | ||||||
| chr15:48548025
|
A | G | 1 | a0001c0001t0001g0232 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.539-10217T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48548025 | ||||||
| chr15:48548034
|
T | C | 13 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0001t0011g0007others(10): Show | 13 | HG01243.hp1 HG01884.hp1 HG01884.hp2 others(10): Show |
intron_variant | MODIFIER | c.539-10226A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48548034 | ||||||
| chr15:48548144
|
G | C | 1 | a0002c0003t0005g0165 | 1 | NA19087.hp2 | intron_variant | MODIFIER | c.539-10336C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48548144 | ||||||
| chr15:48548300
|
C | G | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.539-10492G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48548300 | ||||||
| chr15:48548610
|
T | C | 1 | a0002c0003t0005g0144 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.539-10802A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48548610 | ||||||
| chr15:48548638
|
C | T | 15 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(12): Show | 15 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(12): Show |
intron_variant | MODIFIER | c.539-10830G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48548638 | ||||||
| chr15:48548708
|
T | C | 2 | a0001c0001t0009g0273a0001c0001t0009g0274 | 2 | NA19012.hp1 NA19080.hp1 |
intron_variant | MODIFIER | c.539-10900A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48548708 | ||||||
| chr15:48548847
|
T | C | 37 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.539-11039A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48548847 | ||||||
| chr15:48549061
|
T | C | 4 | a0001c0001t0001g0265a0001c0001t0001g0269a0001c0001t0001g0272others(1): Show | 4 | HG00544.hp2 HG01257.hp1 NA18986.hp2 others(1): Show |
intron_variant | MODIFIER | c.539-11253A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48549061 | ||||||
| chr15:48549072
|
T | C | 2 | a0001c0022t0013g0010a0005c0016t0011g0123 | 2 | HG02451.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.539-11264A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48549072 | ||||||
| chr15:48549263
|
A | G | 1 | a0001c0001t0001g0232 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.539-11455T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48549263 | ||||||
| chr15:48549283
|
T | G | 1 | a0001c0001t0001g0233 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.539-11475A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48549283 | ||||||
| chr15:48549410
|
C | A | 3 | a0001c0001t0001g0238a0001c0001t0001g0242a0001c0001t0001g0250 | 3 | HG00741.hp1 HG01106.hp2 HG02698.hp2 |
intron_variant | MODIFIER | c.539-11602G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48549410 | ||||||
| chr15:48549612
|
T | C | 1 | a0001c0001t0001g0104 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.539-11804A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48549612 | ||||||
| chr15:48549643
|
C | T | 2 | a0001c0001t0005g0136a0001c0001t0005g0280 | 2 | HG02572.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.539-11835G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48549643 | ||||||
| chr15:48549648
|
T | A | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.539-11840A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48549648 | ||||||
| chr15:48549798
|
G | GA | 6 | a0001c0002t0001g0011a0001c0002t0001g0022a0001c0002t0003g0024others(3): Show | 6 | HG02723.hp2 HG02818.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.539-11991dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48549798 | ||||||
| chr15:48549968
|
G | A | 1 | a0001c0002t0003g0024 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.539-12160C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48549968 | ||||||
| chr15:48549990
|
C | T | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.539-12182G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48549990 | ||||||
| chr15:48549994
|
A | G | 6 | a0001c0002t0001g0011a0001c0002t0001g0022a0001c0002t0003g0024others(3): Show | 6 | HG02723.hp2 HG02818.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.539-12186T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48549994 | ||||||
| chr15:48550114
|
T | A | 7 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(4): Show | 7 | HG02451.hp2 HG02486.hp1 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.539-12306A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48550114 | ||||||
| chr15:48550237
|
G | A | 1 | a0001c0001t0001g0262 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.539-12429C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48550237 | ||||||
| chr15:48550282
|
G | A | 1 | a0002c0003t0001g0162 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.539-12474C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48550282 | ||||||
| chr15:48550341
|
C | A | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.539-12533G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48550341 | ||||||
| chr15:48550473
|
C | T | 52 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(49): Show | 52 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(49): Show |
intron_variant | MODIFIER | c.539-12665G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48550473 | ||||||
| chr15:48550493
|
T | A | 2 | a0001c0022t0013g0010a0005c0016t0011g0123 | 2 | HG02451.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.539-12685A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48550493 | ||||||
| chr15:48550680
|
G | A | 1 | a0002c0003t0005g0281 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.539-12872C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48550680 | ||||||
| chr15:48550700
|
G | A | 1 | a0001c0001t0001g0275 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.539-12892C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48550700 | ||||||
| chr15:48550962
|
T | TATGA | 16 | a0001c0001t0001g0229a0001c0001t0002g0081a0001c0001t0011g0007others(13): Show | 16 | HG00741.hp2 HG01175.hp2 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.539-13158_539-1315 others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48550962 | ||||||
| chr15:48550962
|
T | TATGAATG others(1): Show |
27 | a0001c0002t0003g0026a0001c0002t0003g0027a0001c0002t0003g0029others(24): Show | 27 | HG00099.hp1 HG00642.hp1 HG01106.hp1 others(24): Show |
intron_variant | MODIFIER | c.539-13162_539-1315 others(12): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48550962 | ||||||
| chr15:48550962
|
T | TATGAATG others(5): Show |
20 | a0001c0002t0003g0038a0001c0002t0003g0044a0001c0004t0004g0052others(17): Show | 20 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(17): Show |
intron_variant | MODIFIER | c.539-13166_539-1315 others(16): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48550962 | ||||||
| chr15:48550962
|
TATGA | T | 3 | a0001c0001t0001g0001a0001c0001t0001g0242a0001c0001t0001g0252 | 3 | HG01106.hp2 HG03688.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.539-13158_539-1315 others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48550962 | ||||||
| chr15:48550994
|
G | A | 90 | a0001c0002t0001g0051a0001c0002t0003g0025a0001c0002t0003g0026others(87): Show | 90 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(87): Show |
intron_variant | MODIFIER | c.539-13186C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48550994 | ||||||
| chr15:48551029
|
A | C | 3 | a0002c0003t0002g0145a0002c0003t0002g0154a0002c0003t0002g0155 | 3 | NA18965.hp2 NA19003.hp1 NA19010.hp2 |
intron_variant | MODIFIER | c.539-13221T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48551029 | ||||||
| chr15:48551401
|
C | T | 164 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(161): Show | 164 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(161): Show |
intron_variant | MODIFIER | c.539-13593G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48551401 | ||||||
| chr15:48551554
|
G | A | 9 | a0001c0001t0005g0136a0001c0001t0005g0280a0001c0001t0008g0121others(6): Show | 9 | HG02257.hp1 HG02572.hp2 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.539-13746C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48551554 | ||||||
| chr15:48551710
|
C | G | 1 | a0001c0004t0004g0065 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.539-13902G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48551710 | ||||||
| chr15:48551751
|
A | G | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.539-13943T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48551751 | ||||||
| chr15:48551958
|
A | C | 1 | a0001c0001t0001g0117 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.539-14150T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48551958 | ||||||
| chr15:48552211
|
G | T | 1 | a0001c0001t0001g0119 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.539-14403C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48552211 | ||||||
| chr15:48552214
|
T | C | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.539-14406A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48552214 | ||||||
| chr15:48552276
|
C | CT | 86 | a0001c0002t0001g0011a0001c0002t0003g0025a0001c0002t0003g0026others(83): Show | 86 | HG00099.hp1 HG00408.hp2 HG00597.hp1 others(83): Show |
intron_variant | MODIFIER | c.539-14469dupA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48552276 | ||||||
| chr15:48552301
|
C | A | 1 | a0001c0005t0001g0198 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.539-14493G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48552301 | ||||||
| chr15:48552567
|
G | C | 23 | a0001c0002t0001g0124a0001c0002t0001g0283a0001c0002t0002g0084others(20): Show | 23 | HG01255.hp1 HG02257.hp2 HG02280.hp2 others(20): Show |
intron_variant | MODIFIER | c.539-14759C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48552567 | ||||||
| chr15:48552846
|
G | A | 1 | a0001c0002t0017g0040 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.539-15038C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48552846 | ||||||
| chr15:48553215
|
T | C | 5 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0118others(2): Show | 5 | NA18947.hp1 NA18959.hp2 NA18981.hp2 others(2): Show |
intron_variant | MODIFIER | c.539-15407A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48553215 | ||||||
| chr15:48553229
|
G | C | 1 | a0009c0014t0001g0227 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.539-15421C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48553229 | ||||||
| chr15:48553416
|
C | G | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.539-15608G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48553416 | ||||||
| chr15:48553525
|
G | A | 53 | a0001c0002t0001g0051a0001c0002t0003g0025a0001c0002t0003g0026others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.539-15717C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48553525 | ||||||
| chr15:48553573
|
A | G | 1 | a0001c0001t0001g0002 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.539-15765T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48553573 | ||||||
| chr15:48553639
|
C | T | 2 | a0001c0002t0001g0124a0001c0024t0010g0195 | 2 | HG02818.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.539-15831G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48553639 | ||||||
| chr15:48553672
|
A | AT | 23 | a0001c0001t0010g0018a0001c0001t0010g0225a0001c0001t0011g0007others(20): Show | 23 | HG01167.hp2 HG01243.hp1 HG01884.hp1 others(20): Show |
intron_variant | MODIFIER | c.539-15865dupA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48553672 | ||||||
| chr15:48553672
|
AT | A | 37 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.539-15865delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48553672 | ||||||
| chr15:48553935
|
T | C | 1 | a0001c0002t0003g0082 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.539-16127A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48553935 | ||||||
| chr15:48553997
|
G | A | 53 | a0001c0002t0001g0051a0001c0002t0003g0025a0001c0002t0003g0026others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.539-16189C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48553997 | ||||||
| chr15:48554074
|
T | C | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.539-16266A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48554074 | ||||||
| chr15:48554176
|
A | G | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.539-16368T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48554176 | ||||||
| chr15:48554182
|
A | G | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.539-16374T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48554182 | ||||||
| chr15:48554566
|
A | G | 1 | a0001c0022t0013g0010 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.539-16758T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48554566 | ||||||
| chr15:48554681
|
T | A | 1 | a0001c0004t0004g0067 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.539-16873A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48554681 | ||||||
| chr15:48554794
|
C | T | 1 | a0001c0001t0001g0230 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.539-16986G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48554794 | ||||||
| chr15:48554823
|
T | G | 1 | a0009c0014t0001g0227 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.539-17015A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48554823 | ||||||
| chr15:48554904
|
T | C | 1 | a0001c0001t0001g0104 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.539-17096A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48554904 | ||||||
| chr15:48555049
|
T | G | 1 | a0002c0003t0005g0170 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.539-17241A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48555049 | ||||||
| chr15:48555284
|
G | A | 6 | a0001c0001t0001g0098a0001c0001t0001g0110a0001c0001t0001g0226others(3): Show | 6 | HG01123.hp2 HG01192.hp2 HG01257.hp2 others(3): Show |
intron_variant | MODIFIER | c.539-17476C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48555284 | ||||||
| chr15:48555418
|
C | A | 52 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(49): Show | 52 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(49): Show |
intron_variant | MODIFIER | c.539-17610G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48555418 | ||||||
| chr15:48555427
|
T | G | 2 | a0002c0009t0001g0211a0002c0009t0001g0212 | 2 | HG02809.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.539-17619A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48555427 | ||||||
| chr15:48555536
|
T | C | 215 | a0001c0001t0001g0002a0001c0001t0001g0088a0001c0001t0001g0089others(212): Show | 215 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(212): Show |
intron_variant | MODIFIER | c.539-17728A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48555536 | ||||||
| chr15:48555933
|
T | C | 53 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(50): Show | 53 | HG00642.hp2 HG01167.hp2 HG01243.hp1 others(50): Show |
intron_variant | MODIFIER | c.539-18125A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48555933 | ||||||
| chr15:48556069
|
C | T | 3 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0002g0087 | 3 | NA18945.hp1 NA18994.hp2 NA19081.hp2 |
intron_variant | MODIFIER | c.539-18261G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48556069 | ||||||
| chr15:48556173
|
G | C | 6 | a0001c0004t0004g0017a0001c0006t0013g0215a0001c0006t0014g0004others(3): Show | 6 | HG01884.hp2 HG02258.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.539-18365C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48556173 | ||||||
| chr15:48556339
|
C | T | 37 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.539-18531G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48556339 | ||||||
| chr15:48556385
|
G | A | 23 | a0001c0002t0001g0124a0001c0002t0001g0283a0001c0002t0002g0084others(20): Show | 23 | HG01255.hp1 HG02257.hp2 HG02280.hp2 others(20): Show |
intron_variant | MODIFIER | c.539-18577C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48556385 | ||||||
| chr15:48556479
|
T | A | 4 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(1): Show | 4 | HG02723.hp2 HG02886.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.539-18671A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48556479 | ||||||
| chr15:48556568
|
C | G | 1 | a0001c0001t0001g0263 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.539-18760G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48556568 | ||||||
| chr15:48556668
|
G | C | 1 | a0001c0001t0001g0220 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.539-18860C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48556668 | ||||||
| chr15:48556946
|
C | T | 1 | a0001c0001t0001g0243 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.539-19138G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48556946 | ||||||
| chr15:48556949
|
G | A | 1 | a0002c0003t0005g0170 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.539-19141C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48556949 | ||||||
| chr15:48556954
|
A | C | 37 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.539-19146T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48556954 | ||||||
| chr15:48557027
|
G | A | 37 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.539-19219C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48557027 | ||||||
| chr15:48557034
|
T | C | 1 | a0009c0014t0001g0227 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.539-19226A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48557034 | ||||||
| chr15:48557205
|
G | C | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.539-19397C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48557205 | ||||||
| chr15:48557399
|
C | A | 37 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.539-19591G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48557399 | ||||||
| chr15:48557531
|
C | T | 155 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(152): Show | 155 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(152): Show |
intron_variant | MODIFIER | c.539-19723G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48557531 | ||||||
| chr15:48557575
|
T | C | 37 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.539-19767A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48557575 | ||||||
| chr15:48557710
|
G | A | 1 | a0001c0001t0002g0091 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.539-19902C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48557710 | ||||||
| chr15:48558043
|
A | G | 1 | a0001c0006t0014g0004 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.539-20235T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48558043 | ||||||
| chr15:48558079
|
G | C | 3 | a0002c0003t0006g0158a0002c0003t0006g0160a0002c0003t0006g0161 | 3 | NA18944.hp2 NA18994.hp1 NA18995.hp2 |
intron_variant | MODIFIER | c.539-20271C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48558079 | ||||||
| chr15:48558287
|
G | T | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.539-20479C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48558287 | ||||||
| chr15:48558288
|
G | T | 16 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(13): Show | 16 | HG00099.hp1 HG00642.hp1 HG00741.hp2 others(13): Show |
intron_variant | MODIFIER | c.539-20480C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48558288 | ||||||
| chr15:48558433
|
A | G | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.539-20625T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48558433 | ||||||
| chr15:48558460
|
C | G | 59 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0096others(56): Show | 59 | HG00099.hp2 HG00544.hp2 HG00621.hp1 others(56): Show |
intron_variant | MODIFIER | c.539-20652G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48558460 | ||||||
| chr15:48558663
|
T | G | 38 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(35): Show | 38 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(35): Show |
intron_variant | MODIFIER | c.539-20855A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48558663 | ||||||
| chr15:48558850
|
T | G | 2 | a0001c0001t0005g0136a0001c0001t0005g0280 | 2 | HG02572.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.539-21042A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48558850 | ||||||
| chr15:48559068
|
T | C | 1 | a0001c0001t0001g0248 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.539-21260A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48559068 | ||||||
| chr15:48559342
|
G | C | 1 | a0001c0004t0004g0060 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.539-21534C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48559342 | ||||||
| chr15:48559514
|
C | A | 1 | a0001c0004t0004g0063 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.539-21706G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48559514 | ||||||
| chr15:48559529
|
T | A | 2 | a0001c0010t0003g0192a0001c0022t0013g0010 | 2 | HG02922.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.539-21721A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48559529 | ||||||
| chr15:48559684
|
T | C | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.539-21876A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48559684 | ||||||
| chr15:48559762
|
G | A | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.539-21954C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48559762 | ||||||
| chr15:48559869
|
T | C | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.539-22061A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48559869 | ||||||
| chr15:48560119
|
C | T | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.539-22311G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48560119 | ||||||
| chr15:48560130
|
C | G | 1 | a0001c0001t0001g0177 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.539-22322G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48560130 | ||||||
| chr15:48560244
|
T | G | 6 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0117others(3): Show | 6 | NA18947.hp1 NA18956.hp2 NA18959.hp2 others(3): Show |
intron_variant | MODIFIER | c.539-22436A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48560244 | ||||||
| chr15:48560295
|
A | T | 53 | a0001c0002t0001g0051a0001c0002t0003g0025a0001c0002t0003g0026others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.539-22487T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48560295 | ||||||
| chr15:48560509
|
G | T | 37 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.539-22701C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48560509 | ||||||
| chr15:48560529
|
C | T | 1 | a0001c0005t0007g0206 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.539-22721G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48560529 | ||||||
| chr15:48560558
|
T | C | 29 | a0001c0002t0001g0051a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.539-22750A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48560558 | ||||||
| chr15:48560842
|
C | T | 38 | a0001c0001t0010g0018a0002c0003t0001g0162a0002c0003t0002g0145others(35): Show | 38 | HG00597.hp1 HG01346.hp2 HG01884.hp1 others(35): Show |
intron_variant | MODIFIER | c.539-23034G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48560842 | ||||||
| chr15:48560913
|
T | C | 13 | a0002c0003t0001g0162a0002c0003t0005g0142a0002c0003t0005g0143others(10): Show | 13 | HG00597.hp1 NA18945.hp2 NA18969.hp2 others(10): Show |
intron_variant | MODIFIER | c.539-23105A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48560913 | ||||||
| chr15:48561036
|
T | A | 2 | a0002c0009t0001g0211a0002c0009t0001g0212 | 2 | HG02809.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.539-23228A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48561036 | ||||||
| chr15:48561111
|
G | T | 23 | a0001c0002t0001g0124a0001c0002t0001g0283a0001c0002t0002g0084others(20): Show | 23 | HG01255.hp1 HG02257.hp2 HG02280.hp2 others(20): Show |
intron_variant | MODIFIER | c.539-23303C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48561111 | ||||||
| chr15:48561167
|
G | A | 38 | a0001c0001t0010g0018a0002c0003t0001g0162a0002c0003t0002g0145others(35): Show | 38 | HG00597.hp1 HG01346.hp2 HG01884.hp1 others(35): Show |
intron_variant | MODIFIER | c.539-23359C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48561167 | ||||||
| chr15:48561267
|
A | G | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.539-23459T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48561267 | ||||||
| chr15:48561581
|
C | T | 37 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.539-23773G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48561581 | ||||||
| chr15:48561682
|
A | C | 3 | a0001c0001t0001g0128a0001c0001t0001g0279a0010c0020t0001g0129 | 3 | HG02630.hp2 HG02717.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.539-23874T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48561682 | ||||||
| chr15:48561911
|
TA | T | 97 | a0001c0001t0010g0018a0001c0002t0001g0051a0001c0002t0002g0005others(94): Show | 97 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(94): Show |
intron_variant | MODIFIER | c.539-24104delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48561911 | ||||||
| chr15:48561930
|
T | C | 4 | a0002c0003t0002g0145a0002c0003t0002g0154a0002c0003t0002g0155others(1): Show | 4 | NA18965.hp2 NA18968.hp1 NA19003.hp1 others(1): Show |
intron_variant | MODIFIER | c.539-24122A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48561930 | ||||||
| chr15:48562042
|
A | G | 1 | a0001c0022t0013g0010 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.539-24234T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48562042 | ||||||
| chr15:48562049
|
C | G | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.539-24241G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48562049 | ||||||
| chr15:48562050
|
G | A | 1 | a0001c0004t0022g0139 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.539-24242C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48562050 | ||||||
| chr15:48562066
|
T | G | 37 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.539-24258A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48562066 | ||||||
| chr15:48562098
|
G | A | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.539-24290C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48562098 | ||||||
| chr15:48562129
|
A | G | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.539-24321T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48562129 | ||||||
| chr15:48562295
|
G | C | 1 | a0001c0001t0001g0249 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.539-24487C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48562295 | ||||||
| chr15:48562297
|
C | T | 16 | a0001c0001t0001g0090a0001c0001t0001g0132a0001c0001t0001g0178others(13): Show | 16 | HG00408.hp1 HG00597.hp2 NA18944.hp1 others(13): Show |
intron_variant | MODIFIER | c.539-24489G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48562297 | ||||||
| chr15:48562359
|
A | G | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.539-24551T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48562359 | ||||||
| chr15:48562402
|
T | C | 4 | a0001c0001t0001g0002a0001c0001t0001g0130a0001c0001t0001g0131others(1): Show | 4 | HG02559.hp2 HG02615.hp2 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.539-24594A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48562402 | ||||||
| chr15:48562427
|
A | C | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.539-24619T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48562427 | ||||||
| chr15:48562614
|
A | G | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.539-24806T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48562614 | ||||||
| chr15:48562647
|
G | A | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.539-24839C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48562647 | ||||||
| chr15:48562740
|
G | A | 1 | a0001c0001t0001g0090 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.539-24932C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48562740 | ||||||
| chr15:48562805
|
T | C | 1 | a0001c0001t0001g0235 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.539-24997A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48562805 | ||||||
| chr15:48563030
|
T | A | 1 | a0001c0002t0008g0285 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.539-25222A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48563030 | ||||||
| chr15:48563381
|
A | AAGGAGAT others(338): Show |
3 | a0002c0003t0006g0158a0002c0003t0006g0160a0002c0003t0006g0161 | 3 | NA18944.hp2 NA18994.hp1 NA18995.hp2 |
intron_variant | MODIFIER | c.539-25574_539-2557 others(349): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48563381 | ||||||
| chr15:48563556
|
C | T | 44 | a0001c0001t0010g0018a0001c0002t0002g0005a0001c0002t0002g0006others(41): Show | 44 | HG00597.hp1 HG01346.hp2 HG01884.hp1 others(41): Show |
intron_variant | MODIFIER | c.539-25748G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48563556 | ||||||
| chr15:48563922
|
T | C | 44 | a0001c0001t0010g0018a0001c0002t0002g0005a0001c0002t0002g0006others(41): Show | 44 | HG00597.hp1 HG01346.hp2 HG01884.hp1 others(41): Show |
intron_variant | MODIFIER | c.539-26114A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48563922 | ||||||
| chr15:48563965
|
T | C | 1 | a0001c0001t0024g0112 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.539-26157A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48563965 | ||||||
| chr15:48564507
|
CT | C | 232 | a0001c0001t0001g0002a0001c0001t0001g0088a0001c0001t0001g0089others(229): Show | 232 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(229): Show |
intron_variant | MODIFIER | c.539-26700delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48564507 | ||||||
| chr15:48564548
|
C | T | 1 | a0001c0001t0002g0091 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.539-26740G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48564548 | ||||||
| chr15:48564564
|
A | G | 53 | a0001c0002t0001g0051a0001c0002t0003g0025a0001c0002t0003g0026others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.539-26756T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48564564 | ||||||
| chr15:48564618
|
C | T | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.539-26810G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48564618 | ||||||
| chr15:48564823
|
T | A | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.539-27015A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48564823 | ||||||
| chr15:48564862
|
CT | C | 5 | a0001c0001t0001g0220a0001c0001t0001g0222a0001c0001t0003g0224others(2): Show | 5 | HG00673.hp1 HG02056.hp2 HG02165.hp2 others(2): Show |
intron_variant | MODIFIER | c.539-27055delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48564862 | ||||||
| chr15:48565025
|
C | T | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.539-27217G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48565025 | ||||||
| chr15:48565238
|
A | G | 1 | a0001c0001t0002g0072 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.539-27430T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48565238 | ||||||
| chr15:48565258
|
A | G | 58 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(55): Show | 58 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(55): Show |
intron_variant | MODIFIER | c.539-27450T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48565258 | ||||||
| chr15:48565307
|
T | C | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.539-27499A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48565307 | ||||||
| chr15:48565309
|
T | C | 3 | a0001c0001t0001g0128a0001c0001t0001g0279a0010c0020t0001g0129 | 3 | HG02630.hp2 HG02717.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.539-27501A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48565309 | ||||||
| chr15:48565311
|
TA | T | 3 | a0001c0001t0001g0128a0001c0001t0001g0279a0010c0020t0001g0129 | 3 | HG02630.hp2 HG02717.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.539-27504delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48565311 | ||||||
| chr15:48565370
|
T | A | 4 | a0001c0001t0012g0113a0001c0001t0012g0114a0001c0015t0001g0219others(1): Show | 4 | HG01167.hp1 HG02280.hp1 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.539-27562A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48565370 | ||||||
| chr15:48565541
|
T | G | 1 | a0001c0002t0001g0020 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.539-27733A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48565541 | ||||||
| chr15:48565625
|
T | TA | 46 | a0001c0001t0001g0090a0001c0001t0001g0172a0001c0001t0001g0191others(43): Show | 46 | HG00597.hp1 HG00621.hp1 HG00673.hp1 others(43): Show |
intron_variant | MODIFIER | c.539-27818dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48565625 | ||||||
| chr15:48565625
|
TA | T | 50 | a0001c0001t0001g0188a0001c0001t0002g0003a0001c0001t0002g0071others(47): Show | 50 | HG00642.hp2 HG01167.hp2 HG01255.hp1 others(47): Show |
intron_variant | MODIFIER | c.539-27818delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48565625 | ||||||
| chr15:48565625
|
TAA | T | 17 | a0001c0001t0010g0225a0001c0001t0011g0007a0001c0001t0011g0008others(14): Show | 17 | HG01243.hp1 HG01884.hp2 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.539-27819_539-2781 others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48565625 | ||||||
| chr15:48565843
|
G | C | 2 | a0001c0001t0002g0003a0004c0017t0002g0023 | 2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.539-28035C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48565843 | ||||||
| chr15:48565864
|
T | C | 7 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(4): Show | 7 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.539-28056A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48565864 | ||||||
| chr15:48566407
|
A | T | 2 | a0002c0009t0001g0211a0002c0009t0001g0212 | 2 | HG02809.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.539-28599T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48566407 | ||||||
| chr15:48566462
|
C | A | 2 | a0001c0001t0001g0176a0001c0001t0001g0188 | 2 | HG03239.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.539-28654G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48566462 | ||||||
| chr15:48566588
|
G | A | 1 | a0001c0001t0001g0099 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.539-28780C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48566588 | ||||||
| chr15:48566651
|
A | G | 1 | a0001c0001t0005g0221 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.539-28843T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48566651 | ||||||
| chr15:48566724
|
C | T | 1 | a0001c0001t0001g0092 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.539-28916G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48566724 | ||||||
| chr15:48566740
|
T | C | 4 | a0002c0003t0002g0145a0002c0003t0002g0154a0002c0003t0002g0155others(1): Show | 4 | NA18965.hp2 NA18968.hp1 NA19003.hp1 others(1): Show |
intron_variant | MODIFIER | c.539-28932A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48566740 | ||||||
| chr15:48566750
|
G | A | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.539-28942C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48566750 | ||||||
| chr15:48566774
|
G | T | 16 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(13): Show | 16 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(13): Show |
intron_variant | MODIFIER | c.539-28966C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48566774 | ||||||
| chr15:48566977
|
G | A | 1 | a0001c0001t0001g0118 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.539-29169C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48566977 | ||||||
| chr15:48567056
|
A | G | 59 | a0001c0002t0001g0051a0001c0002t0002g0005a0001c0002t0002g0006others(56): Show | 59 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(56): Show |
intron_variant | MODIFIER | c.538+29227T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48567056 | ||||||
| chr15:48567112
|
C | T | 2 | a0001c0010t0003g0192a0001c0022t0013g0010 | 2 | HG02922.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.538+29171G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48567112 | ||||||
| chr15:48567536
|
A | G | 153 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(150): Show | 153 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(150): Show |
intron_variant | MODIFIER | c.538+28747T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48567536 | ||||||
| chr15:48567589
|
A | G | 1 | a0001c0001t0005g0136 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.538+28694T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48567589 | ||||||
| chr15:48567703
|
A | T | 1 | a0001c0004t0004g0048 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.538+28580T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48567703 | ||||||
| chr15:48567733
|
T | C | 7 | a0001c0002t0003g0026a0001c0002t0003g0027a0001c0002t0003g0030others(4): Show | 7 | HG01106.hp1 HG01192.hp1 HG01361.hp2 others(4): Show |
intron_variant | MODIFIER | c.538+28550A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48567733 | ||||||
| chr15:48567769
|
T | C | 236 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(233): Show | 236 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(233): Show |
intron_variant | MODIFIER | c.538+28514A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48567769 | ||||||
| chr15:48567897
|
G | A | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.538+28386C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48567897 | ||||||
| chr15:48567998
|
T | TAAGA | 13 | a0001c0001t0001g0095a0001c0001t0001g0217a0001c0001t0001g0220others(10): Show | 13 | HG02523.hp1 HG02976.hp1 HG03225.hp1 others(10): Show |
intron_variant | MODIFIER | c.538+28281_538+2828 others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48567998 | ||||||
| chr15:48567998
|
T | TAAGAAAG others(1): Show |
19 | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0096others(16): Show | 19 | HG00621.hp1 HG00741.hp1 HG01106.hp2 others(16): Show |
intron_variant | MODIFIER | c.538+28277_538+2828 others(12): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48567998 | ||||||
| chr15:48567998
|
T | TAAGAAAG others(5): Show |
22 | a0001c0001t0001g0001a0001c0001t0001g0132a0001c0001t0001g0176others(19): Show | 22 | HG01243.hp2 HG01981.hp2 HG02056.hp2 others(19): Show |
intron_variant | MODIFIER | c.538+28273_538+2828 others(16): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48567998 | ||||||
| chr15:48567998
|
T | TAAGAAAG others(9): Show |
8 | a0001c0001t0001g0188a0001c0001t0009g0264a0002c0003t0002g0147others(5): Show | 8 | HG00597.hp1 HG01346.hp2 HG01978.hp2 others(5): Show |
intron_variant | MODIFIER | c.538+28269_538+2828 others(20): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48567998 | ||||||
| chr15:48567998
|
T | TAAGAAAG others(13): Show |
7 | a0001c0001t0001g0230a0002c0003t0005g0156a0002c0003t0005g0157others(4): Show | 7 | HG01175.hp1 HG02080.hp2 HG02135.hp2 others(4): Show |
intron_variant | MODIFIER | c.538+28265_538+2828 others(24): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48567998 | ||||||
| chr15:48567998
|
T | TAAGAAAG others(17): Show |
6 | a0002c0003t0005g0144a0002c0003t0005g0159a0002c0003t0005g0281others(3): Show | 6 | NA18944.hp2 NA18945.hp2 NA18969.hp2 others(3): Show |
intron_variant | MODIFIER | c.538+28261_538+2828 others(28): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48567998 | ||||||
| chr15:48567998
|
T | TAAGAAAG others(21): Show |
2 | a0002c0003t0002g0148a0002c0003t0006g0160 | 2 | NA18994.hp1 NA19081.hp1 |
intron_variant | MODIFIER | c.538+28257_538+2828 others(32): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48567998 | ||||||
| chr15:48567998
|
T | TAAGAAAG others(25): Show |
1 | a0002c0003t0006g0161 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.538+28253_538+2828 others(36): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48567998 | ||||||
| chr15:48567998
|
T | TAAGAAAG others(33): Show |
1 | a0002c0003t0005g0171 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.538+28245_538+2828 others(44): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48567998 | ||||||
| chr15:48567998
|
TAAGAAAG others(12): Show |
T | 1 | a0001c0002t0003g0033 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.538+28266_538+2828 others(23): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48567998 | ||||||
| chr15:48567999
|
A | G | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.538+28284T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48567999 | ||||||
| chr15:48568002
|
A | G | 3 | a0001c0001t0001g0128a0001c0001t0001g0279a0010c0020t0001g0129 | 3 | HG02630.hp2 HG02717.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.538+28281T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568002 | ||||||
| chr15:48568014
|
AAAGAAAG others(28): Show |
A | 2 | a0001c0002t0003g0030a0001c0002t0008g0133 | 2 | HG01361.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.538+28234_538+2826 others(39): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568014 | ||||||
| chr15:48568018
|
AAAGAAAG others(24): Show |
A | 3 | a0001c0002t0008g0134a0001c0002t0008g0135a0001c0004t0004g0138 | 3 | HG02451.hp2 HG03453.hp2 NA18963.hp2 |
intron_variant | MODIFIER | c.538+28234_538+2826 others(35): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568018 | ||||||
| chr15:48568022
|
A | AAAGAAAG others(8): Show |
1 | a0001c0005t0003g0208 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.538+28246_538+2826 others(19): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568022 | ||||||
| chr15:48568022
|
AAAGAAAG others(20): Show |
A | 3 | a0001c0004t0004g0054a0001c0004t0004g0137a0012c0011t0027g0213 | 3 | HG02523.hp2 HG03195.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.538+28234_538+2826 others(31): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568022 | ||||||
| chr15:48568026
|
A | AAAGAAAG others(12): Show |
1 | a0001c0005t0014g0196 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.538+28238_538+2825 others(23): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568026 | ||||||
| chr15:48568026
|
AAAGAAAG others(16): Show |
A | 8 | a0001c0002t0003g0031a0001c0002t0003g0032a0001c0002t0003g0044others(5): Show | 8 | HG00544.hp1 HG01106.hp1 HG01516.hp2 others(5): Show |
intron_variant | MODIFIER | c.538+28234_538+2825 others(27): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568026 | ||||||
| chr15:48568030
|
A | AAAGAAAG others(4): Show |
3 | a0001c0005t0003g0210a0001c0005t0013g0199a0001c0006t0014g0004 | 3 | HG02258.hp1 HG02970.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.538+28242_538+2825 others(15): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568030 | ||||||
| chr15:48568030
|
AAAGAAAG others(12): Show |
A | 10 | a0001c0002t0002g0006a0001c0002t0003g0026a0001c0002t0003g0037others(7): Show | 10 | HG00408.hp2 HG00741.hp2 HG01255.hp2 others(7): Show |
intron_variant | MODIFIER | c.538+28234_538+2825 others(23): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568030 | ||||||
| chr15:48568034
|
AAAGAAAG others(8): Show |
A | 13 | a0001c0002t0002g0085a0001c0002t0003g0025a0001c0002t0003g0027others(10): Show | 13 | HG00099.hp1 HG01175.hp2 HG01192.hp1 others(10): Show |
intron_variant | MODIFIER | c.538+28234_538+2824 others(19): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568034 | ||||||
| chr15:48568038
|
AAAGAAAG others(4): Show |
A | 11 | a0001c0001t0010g0018a0001c0002t0002g0005a0001c0002t0003g0029others(8): Show | 11 | HG00642.hp1 HG01884.hp1 HG01978.hp1 others(8): Show |
intron_variant | MODIFIER | c.538+28234_538+2824 others(15): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568038 | ||||||
| chr15:48568042
|
AAAGAAAG | A | 5 | a0001c0002t0003g0041a0001c0004t0004g0049a0001c0004t0004g0061others(2): Show | 5 | HG03669.hp2 NA18960.hp2 NA18992.hp1 others(2): Show |
intron_variant | MODIFIER | c.538+28234_538+2824 others(11): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568042 | ||||||
| chr15:48568046
|
A | AAAGAAAG others(8): Show |
1 | a0001c0001t0001g0259 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.538+28236_538+2823 others(19): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568046 | ||||||
| chr15:48568046
|
A | AAAGAAAG others(12): Show |
1 | a0001c0001t0001g0089 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.538+28236_538+2823 others(23): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568046 | ||||||
| chr15:48568046
|
A | AAAGAAAG others(16): Show |
1 | a0002c0003t0006g0163 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.538+28236_538+2823 others(27): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568046 | ||||||
| chr15:48568046
|
AAAG | A | 4 | a0001c0002t0003g0033a0001c0002t0003g0047a0001c0004t0004g0053others(1): Show | 4 | HG01517.hp1 NA19004.hp2 NA19005.hp1 others(1): Show |
intron_variant | MODIFIER | c.538+28234_538+2823 others(7): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568046 | ||||||
| chr15:48568049
|
G | GA | 17 | a0001c0001t0001g0092a0001c0001t0001g0107a0001c0001t0001g0131others(14): Show | 17 | HG00673.hp2 HG01884.hp2 HG01928.hp1 others(14): Show |
intron_variant | MODIFIER | c.538+28233dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGA | 6 | a0001c0001t0001g0093a0001c0001t0001g0101a0001c0001t0001g0108others(3): Show | 6 | HG01123.hp2 HG01192.hp2 HG01928.hp2 others(3): Show |
intron_variant | MODIFIER | c.538+28233_538+2823 others(9): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(2): Show |
10 | a0001c0001t0001g0098a0001c0001t0001g0100a0001c0001t0001g0102others(7): Show | 10 | HG01167.hp1 HG01257.hp2 HG01258.hp1 others(7): Show |
intron_variant | MODIFIER | c.538+28233_538+2823 others(13): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(6): Show |
10 | a0001c0001t0001g0094a0001c0001t0001g0103a0001c0001t0001g0117others(7): Show | 10 | HG02027.hp1 HG02280.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.538+28233_538+2823 others(17): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(10): Show |
5 | a0001c0001t0001g0088a0001c0001t0001g0111a0001c0001t0001g0118others(2): Show | 5 | HG02155.hp1 HG03130.hp2 NA18945.hp1 others(2): Show |
intron_variant | MODIFIER | c.538+28233_538+2823 others(21): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(25): Show |
1 | a0002c0003t0006g0149 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.538+28233_538+2823 others(36): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(29): Show |
1 | a0001c0001t0001g0231 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.538+28233_538+2823 others(40): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(33): Show |
1 | a0001c0001t0001g0235 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.538+28233_538+2823 others(44): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(25): Show |
2 | a0001c0001t0001g0236a0001c0002t0001g0020 | 2 | HG01167.hp2 NA19005.hp2 |
intron_variant | MODIFIER | c.538+28233_538+2823 others(36): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(17): Show |
4 | a0001c0001t0001g0090a0001c0001t0009g0258a0002c0003t0001g0162others(1): Show | 4 | HG00408.hp1 NA18946.hp1 NA18992.hp2 others(1): Show |
intron_variant | MODIFIER | c.538+28233_538+2823 others(28): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(21): Show |
1 | a0001c0002t0003g0024 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.538+28233_538+2823 others(32): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(29): Show |
1 | a0001c0002t0002g0282 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.538+28233_538+2823 others(40): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(13): Show |
4 | a0001c0001t0001g0178a0001c0001t0001g0182a0001c0001t0001g0191others(1): Show | 4 | HG03041.hp2 NA18954.hp1 NA18960.hp1 others(1): Show |
intron_variant | MODIFIER | c.538+28233_538+2823 others(24): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(17): Show |
4 | a0001c0001t0001g0183a0001c0001t0002g0072a0001c0005t0007g0207others(1): Show | 4 | HG01517.hp2 NA18962.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.538+28233_538+2823 others(28): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(21): Show |
3 | a0001c0001t0002g0076a0001c0002t0007g0021a0001c0004t0010g0012 | 3 | HG02922.hp1 HG03579.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.538+28233_538+2823 others(32): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(25): Show |
4 | a0001c0001t0002g0075a0001c0002t0008g0285a0001c0022t0013g0010others(1): Show | 4 | HG02559.hp1 HG02922.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.538+28233_538+2823 others(36): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(9): Show |
4 | a0001c0001t0001g0099a0001c0001t0005g0136a0001c0005t0007g0205others(1): Show | 4 | HG01123.hp1 HG02572.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.538+28233_538+2823 others(20): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(13): Show |
1 | a0001c0001t0002g0216 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.538+28233_538+2823 others(24): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(17): Show |
9 | a0001c0001t0002g0288a0001c0001t0005g0141a0001c0001t0010g0225others(6): Show | 9 | HG02257.hp2 HG02280.hp2 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.538+28233_538+2823 others(28): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(21): Show |
7 | a0001c0001t0001g0128a0001c0001t0001g0279a0001c0002t0001g0022others(4): Show | 7 | HG02630.hp2 HG02717.hp1 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.538+28233_538+2823 others(32): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(25): Show |
1 | a0001c0024t0010g0195 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.538+28233_538+2823 others(36): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(36): Show |
1 | a0001c0001t0011g0007 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.538+28233_538+2823 others(47): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(24): Show |
1 | a0001c0007t0002g0014 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.538+28233_538+2823 others(35): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(28): Show |
1 | a0001c0005t0007g0197 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.538+28233_538+2823 others(39): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(5): Show |
7 | a0001c0001t0001g0185a0001c0001t0001g0186a0001c0001t0001g0187others(4): Show | 7 | HG02622.hp1 NA18959.hp1 NA18975.hp2 others(4): Show |
intron_variant | MODIFIER | c.538+28233_538+2823 others(16): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(9): Show |
4 | a0001c0001t0001g0237a0001c0001t0002g0077a0001c0001t0002g0078others(1): Show | 4 | HG00642.hp2 HG02735.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.538+28233_538+2823 others(20): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(13): Show |
2 | a0001c0001t0001g0263a0001c0005t0003g0204 | 2 | HG02717.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.538+28233_538+2823 others(24): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(21): Show |
2 | a0001c0001t0002g0073a0001c0002t0007g0127 | 2 | HG01255.hp1 HG01361.hp1 |
intron_variant | MODIFIER | c.538+28233_538+2823 others(32): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(25): Show |
1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.538+28233_538+2823 others(36): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(16): Show |
1 | a0001c0001t0011g0008 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.538+28233_538+2823 others(27): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(24): Show |
1 | a0001c0001t0011g0009 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.538+28233_538+2823 others(35): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAA others(24): Show |
1 | a0001c0010t0011g0193 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.538+28233_538+2823 others(35): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAG others(1): Show |
3 | a0001c0001t0001g0184a0001c0001t0001g0254a0001c0001t0001g0269 | 3 | HG02135.hp1 NA18986.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.538+28233_538+2823 others(12): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAG others(5): Show |
1 | a0004c0017t0002g0023 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.538+28233_538+2823 others(16): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAG others(9): Show |
2 | a0001c0001t0002g0071a0001c0001t0002g0080 | 2 | HG02293.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.538+28233_538+2823 others(20): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAG others(13): Show |
1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.538+28233_538+2823 others(24): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAG others(17): Show |
1 | a0001c0005t0001g0201 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.538+28233_538+2823 others(28): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAG others(8): Show |
1 | a0001c0001t0002g0079 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.538+28233_538+2823 others(19): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAAGAAG others(12): Show |
1 | a0001c0005t0002g0202 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.538+28233_538+2823 others(23): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAGAAAG others(5): Show |
4 | a0001c0001t0002g0003a0001c0001t0002g0074a0001c0002t0002g0084others(1): Show | 4 | HG02886.hp2 HG02897.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.538+28222_538+2823 others(16): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568049
|
G | GAAGAAAG others(9): Show |
1 | a0001c0005t0007g0200 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.538+28218_538+2823 others(20): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568049 | ||||||
| chr15:48568052
|
G | A | 3 | a0001c0001t0001g0104a0001c0001t0001g0130a0001c0001t0001g0222 | 3 | HG00621.hp2 HG00673.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.538+28231C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568052 | ||||||
| chr15:48568053
|
A | AAAG | 28 | a0001c0001t0001g0088a0001c0001t0001g0092a0001c0001t0001g0093others(25): Show | 28 | HG00673.hp2 HG01123.hp2 HG01167.hp1 others(25): Show |
intron_variant | MODIFIER | c.538+28227_538+2822 others(7): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568053 | ||||||
| chr15:48568053
|
A | AAAGAAAG others(16): Show |
3 | a0001c0001t0024g0112a0001c0026t0021g0194a0002c0003t0006g0173 | 3 | HG03486.hp1 NA18747.hp1 NA18978.hp2 |
intron_variant | MODIFIER | c.538+28207_538+2822 others(27): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568053 | ||||||
| chr15:48568053
|
A | AAG | 3 | a0001c0001t0001g0094a0001c0001t0001g0131a0001c0001t0001g0190 | 3 | HG02559.hp2 HG02615.hp2 NA18981.hp2 |
intron_variant | MODIFIER | c.538+28229_538+2823 others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568053 | ||||||
| chr15:48568053
|
A | G | 3 | a0001c0001t0001g0104a0001c0001t0001g0130a0001c0001t0001g0222 | 3 | HG00621.hp2 HG00673.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.538+28230T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568053 | ||||||
| chr15:48568082
|
A | C | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.538+28201T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568082 | ||||||
| chr15:48568139
|
A | G | 1 | a0001c0002t0008g0285 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.538+28144T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568139 | ||||||
| chr15:48568141
|
C | CA | 54 | a0001c0001t0005g0223a0001c0001t0010g0018a0001c0002t0001g0022others(51): Show | 54 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(51): Show |
intron_variant | MODIFIER | c.538+28141dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568141 | ||||||
| chr15:48568141
|
CA | C | 54 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(51): Show | 54 | HG00597.hp1 HG00642.hp2 HG01346.hp2 others(51): Show |
intron_variant | MODIFIER | c.538+28141delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568141 | ||||||
| chr15:48568157
|
A | C | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.538+28126T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568157 | ||||||
| chr15:48568231
|
A | T | 1 | a0001c0001t0001g0128 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.538+28052T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568231 | ||||||
| chr15:48568371
|
A | G | 3 | a0001c0001t0010g0018a0001c0002t0001g0011a0001c0004t0010g0012 | 3 | HG01884.hp1 HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.538+27912T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568371 | ||||||
| chr15:48568425
|
T | A | 1 | a0001c0004t0004g0083 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.538+27858A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48568425 | ||||||
| chr15:48569090
|
A | C | 60 | a0001c0001t0010g0018a0001c0002t0001g0051a0001c0002t0002g0005others(57): Show | 60 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(57): Show |
intron_variant | MODIFIER | c.538+27193T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48569090 | ||||||
| chr15:48569135
|
T | A | 2 | a0001c0001t0002g0078a0001c0001t0002g0216 | 2 | HG02735.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.538+27148A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48569135 | ||||||
| chr15:48569146
|
C | T | 3 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0001g0190 | 3 | HG02559.hp2 HG02615.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.538+27137G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48569146 | ||||||
| chr15:48569279
|
A | G | 53 | a0001c0002t0001g0051a0001c0002t0003g0025a0001c0002t0003g0026others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.538+27004T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48569279 | ||||||
| chr15:48569306
|
A | G | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.538+26977T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48569306 | ||||||
| chr15:48569320
|
A | C | 60 | a0001c0001t0010g0018a0001c0002t0001g0051a0001c0002t0002g0005others(57): Show | 60 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(57): Show |
intron_variant | MODIFIER | c.538+26963T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48569320 | ||||||
| chr15:48569576
|
A | T | 1 | a0001c0001t0001g0279 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.538+26707T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48569576 | ||||||
| chr15:48569717
|
C | T | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.538+26566G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48569717 | ||||||
| chr15:48569846
|
G | A | 96 | a0001c0001t0001g0128a0001c0001t0001g0279a0001c0001t0002g0003others(93): Show | 96 | HG00597.hp1 HG00642.hp2 HG01167.hp2 others(93): Show |
intron_variant | MODIFIER | c.538+26437C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48569846 | ||||||
| chr15:48569878
|
T | A | 1 | a0001c0001t0001g0172 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.538+26405A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48569878 | ||||||
| chr15:48570154
|
A | T | 2 | a0001c0010t0003g0192a0001c0022t0013g0010 | 2 | HG02922.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.538+26129T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48570154 | ||||||
| chr15:48570169
|
A | G | 38 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(35): Show | 38 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(35): Show |
intron_variant | MODIFIER | c.538+26114T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48570169 | ||||||
| chr15:48570301
|
A | G | 1 | a0001c0022t0013g0010 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.538+25982T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48570301 | ||||||
| chr15:48570319
|
C | T | 4 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(1): Show | 4 | HG02723.hp2 HG02886.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.538+25964G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48570319 | ||||||
| chr15:48570334
|
G | A | 2 | a0001c0001t0001g0236a0001c0001t0001g0263 | 2 | NA19005.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.538+25949C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48570334 | ||||||
| chr15:48570367
|
C | T | 5 | a0001c0001t0001g0132a0001c0001t0001g0178a0001c0001t0001g0180others(2): Show | 5 | NA18960.hp1 NA18965.hp1 NA18968.hp2 others(2): Show |
intron_variant | MODIFIER | c.538+25916G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48570367 | ||||||
| chr15:48570470
|
G | GAA | 37 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.538+25811_538+2581 others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48570470 | ||||||
| chr15:48570470
|
GA | G | 33 | a0001c0001t0001g0239a0001c0001t0001g0254a0001c0002t0001g0124others(30): Show | 33 | HG01255.hp1 HG01884.hp2 HG02135.hp1 others(30): Show |
intron_variant | MODIFIER | c.538+25812delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48570470 | ||||||
| chr15:48570508
|
G | A | 25 | a0001c0002t0001g0022a0001c0002t0001g0124a0001c0002t0001g0283others(22): Show | 25 | HG01255.hp1 HG02257.hp2 HG02280.hp2 others(22): Show |
intron_variant | MODIFIER | c.538+25775C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48570508 | ||||||
| chr15:48570766
|
A | G | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.538+25517T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48570766 | ||||||
| chr15:48570928
|
T | C | 8 | a0001c0001t0010g0225a0001c0004t0004g0017a0001c0006t0013g0215others(5): Show | 8 | HG01884.hp2 HG02258.hp1 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.538+25355A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48570928 | ||||||
| chr15:48571077
|
G | C | 45 | a0001c0001t0010g0018a0001c0002t0001g0051a0001c0002t0002g0005others(42): Show | 45 | HG00597.hp1 HG01346.hp2 HG01884.hp1 others(42): Show |
intron_variant | MODIFIER | c.538+25206C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48571077 | ||||||
| chr15:48571141
|
C | G | 23 | a0001c0002t0001g0124a0001c0002t0001g0283a0001c0002t0002g0084others(20): Show | 23 | HG01255.hp1 HG02257.hp2 HG02280.hp2 others(20): Show |
intron_variant | MODIFIER | c.538+25142G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48571141 | ||||||
| chr15:48571304
|
A | ATC | 4 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(1): Show | 4 | HG02723.hp2 HG02886.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.538+24977_538+2497 others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48571304 | ||||||
| chr15:48571317
|
C | A | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.538+24966G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48571317 | ||||||
| chr15:48571546
|
G | A | 97 | a0001c0001t0010g0018a0001c0002t0001g0051a0001c0002t0002g0005others(94): Show | 97 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(94): Show |
intron_variant | MODIFIER | c.538+24737C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48571546 | ||||||
| chr15:48571765
|
A | C | 1 | a0001c0001t0001g0106 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.538+24518T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48571765 | ||||||
| chr15:48571804
|
T | C | 59 | a0001c0002t0001g0051a0001c0002t0002g0005a0001c0002t0002g0006others(56): Show | 59 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(56): Show |
intron_variant | MODIFIER | c.538+24479A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48571804 | ||||||
| chr15:48571826
|
G | A | 1 | a0001c0002t0001g0283 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.538+24457C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48571826 | ||||||
| chr15:48571885
|
T | C | 1 | a0001c0005t0003g0209 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.538+24398A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48571885 | ||||||
| chr15:48572059
|
A | G | 59 | a0001c0002t0001g0051a0001c0002t0002g0005a0001c0002t0002g0006others(56): Show | 59 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(56): Show |
intron_variant | MODIFIER | c.538+24224T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48572059 | ||||||
| chr15:48572170
|
A | G | 209 | a0001c0001t0001g0002a0001c0001t0001g0088a0001c0001t0001g0089others(206): Show | 209 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(206): Show |
intron_variant | MODIFIER | c.538+24113T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48572170 | ||||||
| chr15:48572280
|
T | C | 37 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.538+24003A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48572280 | ||||||
| chr15:48572333
|
C | A | 1 | a0001c0025t0008g0203 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.538+23950G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48572333 | ||||||
| chr15:48572343
|
TA | T | 232 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(229): Show | 232 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(229): Show |
intron_variant | MODIFIER | c.538+23939delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48572343 | ||||||
| chr15:48572394
|
A | T | 1 | a0001c0001t0003g0224 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.538+23889T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48572394 | ||||||
| chr15:48572532
|
AAAC | A | 37 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.538+23748_538+2375 others(7): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48572532 | ||||||
| chr15:48572582
|
A | G | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.538+23701T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48572582 | ||||||
| chr15:48572600
|
C | T | 93 | a0001c0001t0001g0002a0001c0001t0001g0088a0001c0001t0001g0089others(90): Show | 93 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(90): Show |
intron_variant | MODIFIER | c.538+23683G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48572600 | ||||||
| chr15:48572609
|
T | A | 1 | a0001c0001t0011g0009 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.538+23674A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48572609 | ||||||
| chr15:48572626
|
G | C | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.538+23657C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48572626 | ||||||
| chr15:48572680
|
T | C | 38 | a0001c0001t0010g0018a0002c0003t0001g0162a0002c0003t0002g0145others(35): Show | 38 | HG00597.hp1 HG01346.hp2 HG01884.hp1 others(35): Show |
intron_variant | MODIFIER | c.538+23603A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48572680 | ||||||
| chr15:48572783
|
C | T | 1 | a0001c0002t0003g0026 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.538+23500G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48572783 | ||||||
| chr15:48572910
|
T | A | 1 | a0001c0001t0005g0141 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.538+23373A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48572910 | ||||||
| chr15:48572981
|
A | G | 1 | a0001c0001t0001g0265 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.538+23302T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48572981 | ||||||
| chr15:48573154
|
G | T | 1 | a0001c0004t0004g0137 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.538+23129C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48573154 | ||||||
| chr15:48573169
|
G | T | 36 | a0001c0001t0010g0225a0001c0001t0011g0007a0001c0001t0011g0008others(33): Show | 36 | HG01167.hp2 HG01243.hp1 HG01255.hp1 others(33): Show |
intron_variant | MODIFIER | c.538+23114C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48573169 | ||||||
| chr15:48573192
|
A | C | 1 | a0001c0002t0003g0037 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.538+23091T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48573192 | ||||||
| chr15:48573330
|
C | T | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.538+22953G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48573330 | ||||||
| chr15:48573357
|
G | C | 3 | a0001c0001t0008g0121a0003c0008t0005g0015a0003c0008t0005g0122 | 3 | HG02257.hp1 HG02622.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.538+22926C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48573357 | ||||||
| chr15:48573490
|
T | C | 4 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(1): Show | 4 | HG02723.hp2 HG02886.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.538+22793A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48573490 | ||||||
| chr15:48573818
|
A | G | 1 | a0001c0005t0001g0198 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.538+22465T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48573818 | ||||||
| chr15:48574247
|
T | C | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.538+22036A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48574247 | ||||||
| chr15:48574259
|
C | A | 38 | a0001c0001t0010g0225a0001c0001t0011g0007a0001c0001t0011g0008others(35): Show | 38 | HG01167.hp2 HG01243.hp1 HG01255.hp1 others(35): Show |
intron_variant | MODIFIER | c.538+22024G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48574259 | ||||||
| chr15:48574380
|
C | T | 1 | a0001c0002t0008g0134 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.538+21903G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48574380 | ||||||
| chr15:48574496
|
C | T | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.538+21787G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48574496 | ||||||
| chr15:48574874
|
A | G | 1 | a0001c0001t0001g0275 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.538+21409T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48574874 | ||||||
| chr15:48575161
|
C | G | 3 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135 | 3 | HG02451.hp2 HG02486.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.538+21122G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48575161 | ||||||
| chr15:48575300
|
C | T | 7 | a0001c0001t0010g0018a0001c0002t0002g0005a0001c0002t0002g0006others(4): Show | 7 | HG01884.hp1 HG02451.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.538+20983G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48575300 | ||||||
| chr15:48575319
|
A | ATATG | 5 | a0001c0001t0001g0118a0001c0001t0010g0018a0001c0002t0002g0005others(2): Show | 5 | HG01884.hp1 HG03098.hp1 HG03486.hp2 others(2): Show |
intron_variant | MODIFIER | c.538+20960_538+2096 others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48575319 | ||||||
| chr15:48575319
|
ATATG | A | 158 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0088others(155): Show | 158 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(155): Show |
intron_variant | MODIFIER | c.538+20960_538+2096 others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48575319 | ||||||
| chr15:48575319
|
ATATGTAT others(1): Show |
A | 47 | a0001c0001t0001g0188a0001c0001t0001g0220a0001c0001t0005g0141others(44): Show | 47 | HG00597.hp1 HG01884.hp2 HG02027.hp2 others(44): Show |
intron_variant | MODIFIER | c.538+20956_538+2096 others(12): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48575319 | ||||||
| chr15:48575319
|
ATATGTAT others(5): Show |
A | 46 | a0001c0001t0001g0248a0001c0001t0002g0003a0001c0001t0002g0071others(43): Show | 46 | HG00642.hp2 HG01167.hp2 HG01243.hp1 others(43): Show |
intron_variant | MODIFIER | c.538+20952_538+2096 others(16): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48575319 | ||||||
| chr15:48575489
|
C | T | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.538+20794G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48575489 | ||||||
| chr15:48575729
|
C | G | 2 | a0001c0002t0002g0084a0001c0005t0002g0202 | 2 | HG02886.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.538+20554G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48575729 | ||||||
| chr15:48575802
|
T | TAC | 45 | a0001c0001t0001g0019a0001c0001t0001g0131a0001c0001t0001g0132others(42): Show | 45 | HG00621.hp1 HG00642.hp2 HG01255.hp1 others(42): Show |
intron_variant | MODIFIER | c.538+20479_538+2048 others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48575802 | ||||||
| chr15:48575802
|
T | TACAC | 6 | a0001c0001t0001g0233a0001c0001t0001g0241a0001c0001t0001g0252others(3): Show | 6 | HG02738.hp2 HG03209.hp1 HG03486.hp1 others(3): Show |
intron_variant | MODIFIER | c.538+20477_538+2048 others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48575802 | ||||||
| chr15:48575802
|
T | TACACAC | 7 | a0001c0001t0001g0130a0001c0001t0001g0248a0001c0001t0002g0216others(4): Show | 7 | HG02257.hp2 HG02280.hp2 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.538+20475_538+2048 others(10): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48575802 | ||||||
| chr15:48575802
|
T | TACACACA others(1): Show |
3 | a0001c0001t0002g0078a0001c0002t0018g0253a0001c0022t0013g0010 | 3 | HG02735.hp1 HG02922.hp2 HG03239.hp1 |
intron_variant | MODIFIER | c.538+20473_538+2048 others(12): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48575802 | ||||||
| chr15:48575802
|
TAC | T | 24 | a0001c0001t0001g0002a0001c0001t0001g0096a0001c0001t0001g0111others(21): Show | 24 | HG00099.hp2 HG01258.hp2 HG02155.hp1 others(21): Show |
intron_variant | MODIFIER | c.538+20479_538+2048 others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48575802 | ||||||
| chr15:48575802
|
TACAC | T | 10 | a0001c0001t0001g0128a0001c0001t0001g0279a0001c0001t0002g0091others(7): Show | 10 | HG01167.hp2 HG02258.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.538+20477_538+2048 others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48575802 | ||||||
| chr15:48575802
|
TACACAC | T | 4 | a0001c0001t0002g0072a0002c0003t0005g0170a0002c0009t0001g0211others(1): Show | 4 | HG01517.hp2 HG02809.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.538+20475_538+2048 others(10): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48575802 | ||||||
| chr15:48575802
|
TACACACA others(1): Show |
T | 35 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(32): Show | 35 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(32): Show |
intron_variant | MODIFIER | c.538+20473_538+2048 others(12): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48575802 | ||||||
| chr15:48575802
|
TACACACA others(3): Show |
T | 5 | a0001c0002t0003g0045a0001c0002t0003g0046a0001c0002t0003g0047others(2): Show | 5 | HG03834.hp1 NA18943.hp1 NA19004.hp2 others(2): Show |
intron_variant | MODIFIER | c.538+20471_538+2048 others(14): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48575802 | ||||||
| chr15:48575802
|
TACACACA others(5): Show |
T | 48 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(45): Show | 48 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(45): Show |
intron_variant | MODIFIER | c.538+20469_538+2048 others(16): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48575802 | ||||||
| chr15:48575802
|
TACACACA others(7): Show |
T | 2 | a0001c0001t0010g0018a0001c0004t0010g0012 | 2 | HG01884.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.538+20467_538+2048 others(18): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48575802 | ||||||
| chr15:48575881
|
C | T | 1 | a0001c0002t0003g0029 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.538+20402G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48575881 | ||||||
| chr15:48575910
|
T | A | 38 | a0001c0002t0001g0051a0002c0003t0001g0162a0002c0003t0002g0145others(35): Show | 38 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(35): Show |
intron_variant | MODIFIER | c.538+20373A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48575910 | ||||||
| chr15:48576489
|
A | C | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.538+19794T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48576489 | ||||||
| chr15:48576660
|
T | C | 1 | a0001c0001t0002g0081 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.538+19623A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48576660 | ||||||
| chr15:48576762
|
A | G | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.538+19521T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48576762 | ||||||
| chr15:48576894
|
G | A | 1 | a0001c0001t0001g0243 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.538+19389C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48576894 | ||||||
| chr15:48577438
|
A | T | 3 | a0001c0001t0001g0095a0001c0001t0001g0116a0001c0001t0020g0070 | 3 | HG03688.hp2 HG03704.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.538+18845T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48577438 | ||||||
| chr15:48577539
|
T | C | 1 | a0001c0001t0001g0177 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.538+18744A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48577539 | ||||||
| chr15:48577633
|
G | A | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.538+18650C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48577633 | ||||||
| chr15:48577754
|
T | C | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.538+18529A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48577754 | ||||||
| chr15:48577836
|
C | T | 1 | a0001c0005t0007g0197 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.538+18447G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48577836 | ||||||
| chr15:48577844
|
C | A | 1 | a0001c0001t0001g0249 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.538+18439G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48577844 | ||||||
| chr15:48578081
|
C | G | 9 | a0001c0001t0005g0136a0001c0001t0005g0280a0001c0001t0008g0121others(6): Show | 9 | HG02257.hp1 HG02572.hp2 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.538+18202G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48578081 | ||||||
| chr15:48578109
|
G | A | 19 | a0001c0002t0001g0124a0001c0002t0002g0084a0001c0002t0002g0125others(16): Show | 19 | HG01255.hp1 HG02257.hp2 HG02280.hp2 others(16): Show |
intron_variant | MODIFIER | c.538+18174C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48578109 | ||||||
| chr15:48578220
|
G | A | 1 | a0001c0001t0003g0224 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.538+18063C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48578220 | ||||||
| chr15:48578259
|
C | T | 212 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(209): Show | 212 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(209): Show |
intron_variant | MODIFIER | c.538+18024G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48578259 | ||||||
| chr15:48578313
|
G | A | 29 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0092others(26): Show | 29 | HG00621.hp2 HG00673.hp2 HG01123.hp2 others(26): Show |
intron_variant | MODIFIER | c.538+17970C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48578313 | ||||||
| chr15:48578438
|
G | A | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.538+17845C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48578438 | ||||||
| chr15:48578454
|
G | A | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.538+17829C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48578454 | ||||||
| chr15:48578557
|
C | T | 7 | a0001c0001t0010g0018a0001c0002t0002g0005a0001c0002t0002g0006others(4): Show | 7 | HG01884.hp1 HG02451.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.538+17726G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48578557 | ||||||
| chr15:48578584
|
G | A | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.538+17699C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48578584 | ||||||
| chr15:48578623
|
T | C | 6 | a0001c0001t0001g0098a0001c0001t0001g0110a0001c0001t0001g0226others(3): Show | 6 | HG01123.hp2 HG01192.hp2 HG01257.hp2 others(3): Show |
intron_variant | MODIFIER | c.538+17660A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48578623 | ||||||
| chr15:48578689
|
C | A | 129 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(126): Show | 129 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(126): Show |
intron_variant | MODIFIER | c.538+17594G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48578689 | ||||||
| chr15:48578690
|
A | G | 129 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(126): Show | 129 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(126): Show |
intron_variant | MODIFIER | c.538+17593T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48578690 | ||||||
| chr15:48578762
|
A | C | 3 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135 | 3 | HG02451.hp2 HG02486.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.538+17521T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48578762 | ||||||
| chr15:48578787
|
A | G | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.538+17496T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48578787 | ||||||
| chr15:48578852
|
G | T | 1 | a0002c0003t0005g0170 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.538+17431C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48578852 | ||||||
| chr15:48578986
|
C | T | 36 | a0001c0001t0010g0225a0001c0001t0011g0007a0001c0001t0011g0008others(33): Show | 36 | HG01167.hp2 HG01243.hp1 HG01255.hp1 others(33): Show |
intron_variant | MODIFIER | c.538+17297G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48578986 | ||||||
| chr15:48579031
|
GA | G | 28 | a0001c0001t0001g0128a0001c0001t0001g0279a0001c0001t0002g0081others(25): Show | 28 | HG01255.hp1 HG02257.hp2 HG02280.hp2 others(25): Show |
intron_variant | MODIFIER | c.538+17251delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48579031 | ||||||
| chr15:48579031
|
GAA | G | 35 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(32): Show | 35 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(32): Show |
intron_variant | MODIFIER | c.538+17250_538+1725 others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48579031 | ||||||
| chr15:48579032
|
A | G | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.538+17251T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48579032 | ||||||
| chr15:48579033
|
A | G | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.538+17250T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48579033 | ||||||
| chr15:48579198
|
A | G | 1 | a0002c0003t0006g0153 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.538+17085T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48579198 | ||||||
| chr15:48579667
|
C | G | 1 | a0001c0001t0001g0182 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.538+16616G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48579667 | ||||||
| chr15:48579688
|
C | T | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.538+16595G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48579688 | ||||||
| chr15:48579968
|
T | C | 1 | a0001c0001t0001g0237 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.538+16315A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48579968 | ||||||
| chr15:48580407
|
C | A | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.538+15876G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48580407 | ||||||
| chr15:48580578
|
G | A | 1 | a0001c0005t0003g0209 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.538+15705C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48580578 | ||||||
| chr15:48580724
|
G | A | 1 | a0001c0001t0001g0228 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.538+15559C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48580724 | ||||||
| chr15:48580746
|
A | G | 2 | a0001c0001t0001g0101a0001c0001t0001g0107 | 2 | HG01928.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.538+15537T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48580746 | ||||||
| chr15:48580920
|
A | G | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.538+15363T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48580920 | ||||||
| chr15:48581071
|
C | T | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.538+15212G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48581071 | ||||||
| chr15:48581095
|
C | T | 3 | a0001c0001t0002g0071a0001c0001t0002g0074a0001c0001t0002g0077 | 3 | HG00642.hp2 HG02293.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.538+15188G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48581095 | ||||||
| chr15:48581311
|
T | G | 1 | a0001c0001t0001g0269 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.538+14972A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48581311 | ||||||
| chr15:48581324
|
C | A | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.538+14959G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48581324 | ||||||
| chr15:48581418
|
G | C | 42 | a0001c0001t0001g0128a0001c0001t0001g0279a0001c0001t0005g0141others(39): Show | 42 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(39): Show |
intron_variant | MODIFIER | c.538+14865C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48581418 | ||||||
| chr15:48581611
|
C | T | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.538+14672G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48581611 | ||||||
| chr15:48582245
|
G | A | 7 | a0001c0001t0010g0018a0001c0002t0002g0005a0001c0002t0002g0006others(4): Show | 7 | HG01884.hp1 HG02451.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.538+14038C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48582245 | ||||||
| chr15:48582465
|
C | T | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.538+13818G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48582465 | ||||||
| chr15:48582481
|
G | A | 1 | a0001c0026t0021g0194 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.538+13802C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48582481 | ||||||
| chr15:48582625
|
T | C | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.538+13658A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48582625 | ||||||
| chr15:48582752
|
C | T | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.538+13531G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48582752 | ||||||
| chr15:48582880
|
T | C | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.538+13403A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48582880 | ||||||
| chr15:48582997
|
T | G | 1 | a0001c0005t0013g0199 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.538+13286A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48582997 | ||||||
| chr15:48583053
|
T | C | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.538+13230A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48583053 | ||||||
| chr15:48583199
|
A | G | 1 | a0001c0001t0001g0111 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.538+13084T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48583199 | ||||||
| chr15:48583230
|
T | C | 1 | a0001c0002t0002g0284 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.538+13053A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48583230 | ||||||
| chr15:48583276
|
T | C | 1 | a0001c0004t0004g0017 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.538+13007A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48583276 | ||||||
| chr15:48583292
|
G | C | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.538+12991C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48583292 | ||||||
| chr15:48583471
|
T | C | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.538+12812A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48583471 | ||||||
| chr15:48583960
|
C | T | 228 | a0001c0001t0001g0002a0001c0001t0001g0088a0001c0001t0001g0089others(225): Show | 228 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(225): Show |
intron_variant | MODIFIER | c.538+12323G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48583960 | ||||||
| chr15:48584070
|
T | C | 1 | a0001c0001t0001g0244 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.538+12213A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48584070 | ||||||
| chr15:48584141
|
A | C | 1 | a0001c0001t0002g0214 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.538+12142T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48584141 | ||||||
| chr15:48584183
|
A | T | 1 | a0001c0001t0001g0265 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.538+12100T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48584183 | ||||||
| chr15:48584216
|
T | A | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.538+12067A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48584216 | ||||||
| chr15:48584396
|
T | C | 2 | a0001c0001t0001g0128a0010c0020t0001g0129 | 2 | HG02717.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.538+11887A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48584396 | ||||||
| chr15:48584684
|
T | A | 16 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(13): Show | 16 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(13): Show |
intron_variant | MODIFIER | c.538+11599A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48584684 | ||||||
| chr15:48584762
|
C | T | 35 | a0001c0001t0010g0225a0001c0001t0011g0007a0001c0001t0011g0008others(32): Show | 35 | HG01167.hp2 HG01243.hp1 HG01255.hp1 others(32): Show |
intron_variant | MODIFIER | c.538+11521G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48584762 | ||||||
| chr15:48584819
|
C | G | 37 | a0002c0003t0001g0162a0002c0003t0002g0145a0002c0003t0002g0147others(34): Show | 37 | HG00597.hp1 HG01346.hp2 HG02027.hp2 others(34): Show |
intron_variant | MODIFIER | c.538+11464G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48584819 | ||||||
| chr15:48584849
|
T | C | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.538+11434A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48584849 | ||||||
| chr15:48585376
|
G | A | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.538+10907C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48585376 | ||||||
| chr15:48585550
|
A | G | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.538+10733T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48585550 | ||||||
| chr15:48585722
|
G | A | 2 | a0001c0001t0002g0214a0001c0006t0013g0215 | 2 | HG03209.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.538+10561C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48585722 | ||||||
| chr15:48585766
|
A | T | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.538+10517T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48585766 | ||||||
| chr15:48585901
|
G | A | 2 | a0002c0003t0002g0147a0002c0003t0002g0148 | 2 | NA18956.hp1 NA19081.hp1 |
intron_variant | MODIFIER | c.538+10382C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48585901 | ||||||
| chr15:48585946
|
G | A | 3 | a0001c0007t0002g0013a0001c0007t0002g0014a0001c0012t0010g0016 | 3 | HG01884.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.538+10337C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48585946 | ||||||
| chr15:48585991
|
T | C | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.538+10292A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48585991 | ||||||
| chr15:48586023
|
C | T | 60 | a0001c0001t0010g0018a0001c0002t0001g0051a0001c0002t0002g0005others(57): Show | 60 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(57): Show |
intron_variant | MODIFIER | c.538+10260G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48586023 | ||||||
| chr15:48586640
|
G | A | 1 | a0001c0001t0001g0235 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.538+9643C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48586640 | ||||||
| chr15:48586652
|
A | G | 2 | a0001c0001t0002g0075a0001c0001t0002g0076 | 2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.538+9631T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48586652 | ||||||
| chr15:48586672
|
G | T | 1 | a0002c0003t0005g0144 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.538+9611C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48586672 | ||||||
| chr15:48587024
|
C | T | 1 | a0001c0001t0001g0002 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.538+9259G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48587024 | ||||||
| chr15:48587094
|
C | T | 16 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(13): Show | 16 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(13): Show |
intron_variant | MODIFIER | c.538+9189G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48587094 | ||||||
| chr15:48587163
|
T | C | 39 | a0001c0001t0001g0128a0001c0001t0001g0279a0001c0001t0010g0225others(36): Show | 39 | HG01167.hp2 HG01243.hp1 HG01255.hp1 others(36): Show |
intron_variant | MODIFIER | c.538+9120A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48587163 | ||||||
| chr15:48587516
|
A | C | 2 | a0001c0001t0005g0136a0001c0001t0005g0280 | 2 | HG02572.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.538+8767T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48587516 | ||||||
| chr15:48587864
|
T | C | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.538+8419A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48587864 | ||||||
| chr15:48588025
|
G | A | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.538+8258C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48588025 | ||||||
| chr15:48588183
|
C | T | 1 | a0001c0002t0002g0085 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.538+8100G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48588183 | ||||||
| chr15:48588219
|
T | C | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.538+8064A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48588219 | ||||||
| chr15:48588237
|
G | A | 1 | a0001c0002t0017g0040 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.538+8046C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48588237 | ||||||
| chr15:48588237
|
G | C | 2 | a0001c0001t0001g0096a0001c0001t0025g0109 | 2 | HG01258.hp2 HG03490.hp2 |
intron_variant | MODIFIER | c.538+8046C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48588237 | ||||||
| chr15:48588356
|
T | C | 2 | a0001c0001t0001g0176a0001c0001t0001g0188 | 2 | HG03239.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.538+7927A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48588356 | ||||||
| chr15:48588379
|
A | G | 3 | a0001c0002t0001g0022a0001c0002t0007g0021a0001c0005t0007g0197 | 3 | HG02723.hp2 HG03209.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.538+7904T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48588379 | ||||||
| chr15:48588417
|
C | T | 1 | a0001c0002t0003g0029 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.538+7866G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48588417 | ||||||
| chr15:48588621
|
C | T | 2 | a0001c0005t0003g0210a0001c0005t0013g0199 | 2 | HG02970.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.538+7662G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48588621 | ||||||
| chr15:48589276
|
C | G | 2 | a0001c0001t0002g0214a0001c0006t0013g0215 | 2 | HG03209.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.538+7007G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48589276 | ||||||
| chr15:48589397
|
C | T | 1 | a0001c0002t0002g0084 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.538+6886G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48589397 | ||||||
| chr15:48589453
|
C | T | 2 | a0001c0001t0010g0018a0001c0004t0004g0052 | 2 | HG01884.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.538+6830G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48589453 | ||||||
| chr15:48589551
|
G | A | 3 | a0001c0001t0001g0231a0001c0001t0001g0235a0011c0023t0001g0234 | 3 | HG00597.hp2 NA18944.hp1 NA19077.hp1 |
intron_variant | MODIFIER | c.538+6732C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48589551 | ||||||
| chr15:48589609
|
C | CT | 23 | a0001c0001t0001g0002a0001c0001t0001g0094a0001c0001t0001g0260others(20): Show | 23 | HG01192.hp1 HG01517.hp2 HG02257.hp1 others(20): Show |
intron_variant | MODIFIER | c.538+6673dupA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48589609 | ||||||
| chr15:48589609
|
C | CTT | 60 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0073others(57): Show | 60 | HG00597.hp1 HG00642.hp2 HG01167.hp2 others(57): Show |
intron_variant | MODIFIER | c.538+6672_538+6673d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48589609 | ||||||
| chr15:48589609
|
C | CTTT | 37 | a0001c0001t0001g0128a0001c0001t0001g0279a0001c0001t0002g0214others(34): Show | 37 | HG01255.hp1 HG01346.hp2 HG01884.hp2 others(34): Show |
intron_variant | MODIFIER | c.538+6671_538+6673d others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48589609 | ||||||
| chr15:48589636
|
T | C | 161 | a0001c0001t0001g0128a0001c0001t0001g0243a0001c0001t0001g0279others(158): Show | 161 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(158): Show |
intron_variant | MODIFIER | c.538+6647A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48589636 | ||||||
| chr15:48589645
|
G | A | 1 | a0001c0004t0004g0063 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.538+6638C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48589645 | ||||||
| chr15:48589727
|
C | A | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.538+6556G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48589727 | ||||||
| chr15:48589739
|
G | A | 2 | a0001c0002t0002g0084a0001c0005t0002g0202 | 2 | HG02886.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.538+6544C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48589739 | ||||||
| chr15:48589837
|
C | T | 8 | a0001c0001t0005g0136a0001c0001t0005g0280a0001c0001t0008g0121others(5): Show | 8 | HG02257.hp1 HG02572.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.538+6446G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48589837 | ||||||
| chr15:48589886
|
G | A | 2 | a0001c0001t0002g0214a0001c0006t0013g0215 | 2 | HG03209.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.538+6397C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48589886 | ||||||
| chr15:48589886
|
G | C | 39 | a0001c0001t0001g0128a0001c0001t0001g0279a0001c0001t0010g0225others(36): Show | 39 | HG01167.hp2 HG01243.hp1 HG01255.hp1 others(36): Show |
intron_variant | MODIFIER | c.538+6397C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48589886 | ||||||
| chr15:48590089
|
T | C | 1 | a0002c0003t0002g0189 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.538+6194A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48590089 | ||||||
| chr15:48590092
|
C | A | 1 | a0001c0025t0008g0203 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.538+6191G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48590092 | ||||||
| chr15:48590120
|
C | A | 36 | a0001c0001t0010g0225a0001c0001t0011g0007a0001c0001t0011g0008others(33): Show | 36 | HG01167.hp2 HG01243.hp1 HG01255.hp1 others(33): Show |
intron_variant | MODIFIER | c.538+6163G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48590120 | ||||||
| chr15:48590235
|
A | C | 1 | a0001c0005t0007g0205 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.538+6048T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48590235 | ||||||
| chr15:48590309
|
G | A | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.538+5974C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48590309 | ||||||
| chr15:48590327
|
G | A | 1 | a0001c0005t0007g0197 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.538+5956C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48590327 | ||||||
| chr15:48590390
|
C | T | 1 | a0002c0003t0006g0149 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.538+5893G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48590390 | ||||||
| chr15:48590441
|
T | G | 2 | a0001c0004t0004g0049a0001c0004t0004g0067 | 2 | NA19000.hp1 NA19084.hp2 |
intron_variant | MODIFIER | c.538+5842A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48590441 | ||||||
| chr15:48590475
|
GAAAGTCA others(3): Show |
G | 3 | a0001c0002t0001g0011a0001c0002t0003g0024a0001c0004t0010g0012 | 3 | HG02818.hp2 HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.538+5798_538+5807d others(12): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48590475 | ||||||
| chr15:48590490
|
A | C | 3 | a0001c0002t0001g0011a0001c0002t0003g0024a0001c0004t0010g0012 | 3 | HG02818.hp2 HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.538+5793T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48590490 | ||||||
| chr15:48590491
|
A | T | 3 | a0001c0002t0001g0011a0001c0002t0003g0024a0001c0004t0010g0012 | 3 | HG02818.hp2 HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.538+5792T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48590491 | ||||||
| chr15:48590492
|
AT | A | 3 | a0001c0002t0001g0011a0001c0002t0003g0024a0001c0004t0010g0012 | 3 | HG02818.hp2 HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.538+5790delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48590492 | ||||||
| chr15:48590769
|
A | C | 169 | a0001c0001t0001g0128a0001c0001t0001g0279a0001c0001t0002g0003others(166): Show | 169 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(166): Show |
intron_variant | MODIFIER | c.538+5514T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48590769 | ||||||
| chr15:48590812
|
C | T | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.538+5471G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48590812 | ||||||
| chr15:48590828
|
A | G | 1 | a0001c0001t0001g0130 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.538+5455T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48590828 | ||||||
| chr15:48590961
|
C | A | 38 | a0001c0001t0001g0002a0001c0001t0001g0088a0001c0001t0001g0089others(35): Show | 38 | HG00621.hp2 HG00673.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.538+5322G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48590961 | ||||||
| chr15:48591017
|
G | C | 1 | a0001c0025t0008g0203 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.538+5266C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48591017 | ||||||
| chr15:48591193
|
G | C | 3 | a0001c0001t0001g0128a0001c0001t0001g0279a0010c0020t0001g0129 | 3 | HG02630.hp2 HG02717.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.538+5090C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48591193 | ||||||
| chr15:48591272
|
T | G | 2 | a0001c0001t0001g0088a0001c0001t0001g0089 | 2 | NA18945.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.538+5011A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48591272 | ||||||
| chr15:48591307
|
A | G | 1 | a0001c0005t0001g0198 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.538+4976T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48591307 | ||||||
| chr15:48591413
|
T | C | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.538+4870A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48591413 | ||||||
| chr15:48591499
|
T | C | 69 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(66): Show | 69 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(66): Show |
intron_variant | MODIFIER | c.538+4784A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48591499 | ||||||
| chr15:48591555
|
G | A | 1 | a0001c0002t0001g0020 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.538+4728C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48591555 | ||||||
| chr15:48591581
|
T | C | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.538+4702A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48591581 | ||||||
| chr15:48591701
|
A | AGTCTTTA others(98): Show |
1 | a0001c0001t0001g0245 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.538+4581_538+4582i others(107): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48591701 | ||||||
| chr15:48591701
|
AGTCTTTA others(63): Show |
A | 1 | a0001c0002t0001g0020 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.538+4512_538+4581d others(72): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48591701 | ||||||
| chr15:48591738
|
T | G | 1 | a0001c0001t0001g0188 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.538+4545A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48591738 | ||||||
| chr15:48591742
|
C | T | 270 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(267): Show | 270 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(267): Show |
intron_variant | MODIFIER | c.538+4541G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48591742 | ||||||
| chr15:48591907
|
T | A | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.538+4376A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48591907 | ||||||
| chr15:48592295
|
T | A | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.538+3988A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48592295 | ||||||
| chr15:48592357
|
T | G | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.538+3926A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48592357 | ||||||
| chr15:48592363
|
C | G | 1 | a0001c0001t0001g0100 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.538+3920G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48592363 | ||||||
| chr15:48592538
|
C | T | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.538+3745G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48592538 | ||||||
| chr15:48592632
|
A | C | 2 | a0001c0001t0001g0244a0001c0001t0001g0270 | 2 | HG02738.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.538+3651T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48592632 | ||||||
| chr15:48592647
|
C | T | 3 | a0001c0001t0001g0232a0001c0001t0001g0277a0001c0001t0001g0278 | 3 | HG02976.hp1 HG03225.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.538+3636G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48592647 | ||||||
| chr15:48592808
|
A | G | 22 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(19): Show | 22 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(19): Show |
intron_variant | MODIFIER | c.538+3475T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48592808 | ||||||
| chr15:48592809
|
T | C | 4 | a0001c0001t0001g0128a0001c0001t0001g0279a0001c0001t0005g0141others(1): Show | 4 | HG02630.hp2 HG02717.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.538+3474A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48592809 | ||||||
| chr15:48592950
|
G | A | 4 | a0001c0005t0003g0204a0001c0005t0007g0205a0001c0005t0007g0206others(1): Show | 4 | HG02717.hp2 HG02976.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.538+3333C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48592950 | ||||||
| chr15:48593058
|
T | A | 7 | a0001c0001t0010g0018a0001c0002t0002g0005a0001c0002t0002g0006others(4): Show | 7 | HG01884.hp1 HG02451.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.538+3225A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48593058 | ||||||
| chr15:48593222
|
C | T | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.538+3061G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48593222 | ||||||
| chr15:48593230
|
G | A | 39 | a0001c0001t0001g0172a0001c0002t0003g0035a0002c0003t0001g0162others(36): Show | 39 | HG00597.hp1 HG00621.hp1 HG01346.hp2 others(36): Show |
intron_variant | MODIFIER | c.538+3053C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48593230 | ||||||
| chr15:48593287
|
G | A | 7 | a0001c0001t0010g0018a0001c0002t0002g0005a0001c0002t0002g0006others(4): Show | 7 | HG01884.hp1 HG02451.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.538+2996C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48593287 | ||||||
| chr15:48593397
|
T | G | 3 | a0001c0001t0001g0128a0001c0001t0001g0279a0010c0020t0001g0129 | 3 | HG02630.hp2 HG02717.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.538+2886A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48593397 | ||||||
| chr15:48593426
|
T | A | 2 | a0001c0001t0001g0110a0001c0001t0001g0226 | 2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.538+2857A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48593426 | ||||||
| chr15:48593472
|
T | C | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.538+2811A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48593472 | ||||||
| chr15:48593583
|
C | G | 1 | a0001c0001t0001g0131 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.538+2700G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48593583 | ||||||
| chr15:48593680
|
G | A | 15 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(12): Show | 15 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(12): Show |
intron_variant | MODIFIER | c.538+2603C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48593680 | ||||||
| chr15:48593841
|
T | C | 1 | a0001c0001t0001g0286 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.538+2442A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48593841 | ||||||
| chr15:48593872
|
G | T | 38 | a0001c0001t0001g0172a0002c0003t0001g0162a0002c0003t0002g0145others(35): Show | 38 | HG00597.hp1 HG00621.hp1 HG01346.hp2 others(35): Show |
intron_variant | MODIFIER | c.538+2411C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48593872 | ||||||
| chr15:48593892
|
T | A | 2 | a0001c0001t0002g0214a0001c0006t0013g0215 | 2 | HG03209.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.538+2391A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48593892 | ||||||
| chr15:48593989
|
G | A | 7 | a0001c0001t0010g0018a0001c0002t0002g0005a0001c0002t0002g0006others(4): Show | 7 | HG01884.hp1 HG02451.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.538+2294C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48593989 | ||||||
| chr15:48594304
|
C | T | 3 | a0001c0002t0001g0011a0001c0002t0003g0024a0001c0004t0010g0012 | 3 | HG02818.hp2 HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.538+1979G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48594304 | ||||||
| chr15:48594332
|
C | G | 4 | a0001c0001t0001g0128a0001c0001t0001g0279a0001c0001t0005g0141others(1): Show | 4 | HG02630.hp2 HG02717.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.538+1951G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48594332 | ||||||
| chr15:48594361
|
C | T | 1 | a0001c0001t0001g0286 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.538+1922G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48594361 | ||||||
| chr15:48594842
|
C | T | 1 | a0001c0002t0003g0042 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.538+1441G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48594842 | ||||||
| chr15:48594887
|
C | T | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.538+1396G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48594887 | ||||||
| chr15:48594968
|
C | T | 1 | a0001c0001t0024g0112 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.538+1315G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48594968 | ||||||
| chr15:48595037
|
C | T | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.538+1246G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48595037 | ||||||
| chr15:48595068
|
C | T | 8 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(5): Show | 8 | HG01928.hp2 HG02027.hp1 HG02155.hp1 others(5): Show |
intron_variant | MODIFIER | c.538+1215G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48595068 | ||||||
| chr15:48595075
|
A | AC | 3 | a0001c0002t0001g0283a0001c0005t0003g0208a0001c0005t0003g0209 | 3 | HG02965.hp2 HG03130.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.538+1207dupG | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48595075 | ||||||
| chr15:48595406
|
T | C | 59 | a0001c0002t0001g0051a0001c0002t0002g0005a0001c0002t0002g0006others(56): Show | 59 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(56): Show |
intron_variant | MODIFIER | c.538+877A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48595406 | ||||||
| chr15:48595841
|
C | T | 1 | a0001c0004t0004g0083 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.538+442G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48595841 | ||||||
| chr15:48596006
|
C | T | 1 | a0001c0022t0013g0010 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.538+277G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48596006 | ||||||
| chr15:48596027
|
A | G | 7 | a0001c0001t0010g0018a0001c0002t0002g0005a0001c0002t0002g0006others(4): Show | 7 | HG01884.hp1 HG02451.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.538+256T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48596027 | ||||||
| chr15:48596079
|
G | A | 23 | a0001c0002t0001g0124a0001c0002t0001g0283a0001c0002t0002g0084others(20): Show | 23 | HG01255.hp1 HG02257.hp2 HG02280.hp2 others(20): Show |
intron_variant | MODIFIER | c.538+204C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48596079 | ||||||
| chr15:48596093
|
T | C | 1 | a0001c0001t0001g0002 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.538+190A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48596093 | ||||||
| chr15:48596258
|
C | T | 7 | a0001c0001t0010g0018a0001c0002t0002g0005a0001c0002t0002g0006others(4): Show | 7 | HG01884.hp1 HG02451.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.538+25G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | 48596258 | ||||||
| chr15:48596413
|
T | C | 3 | a0001c0001t0002g0072a0001c0001t0002g0075a0001c0001t0002g0076 | 3 | HG01517.hp2 HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.443-35A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48596413 | ||||||
| chr15:48596425
|
C | T | 1 | a0001c0001t0001g0265 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.443-47G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48596425 | ||||||
| chr15:48596462
|
C | T | 1 | a0001c0004t0010g0012 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.443-84G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48596462 | ||||||
| chr15:48596791
|
A | T | 159 | a0001c0001t0001g0128a0001c0001t0001g0172a0001c0001t0001g0279others(156): Show | 159 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(156): Show |
intron_variant | MODIFIER | c.443-413T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48596791 | ||||||
| chr15:48596894
|
C | T | 1 | a0002c0003t0006g0149 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.443-516G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48596894 | ||||||
| chr15:48596991
|
G | A | 36 | a0001c0001t0010g0225a0001c0001t0011g0007a0001c0001t0011g0008others(33): Show | 36 | HG01167.hp2 HG01243.hp1 HG01255.hp1 others(33): Show |
intron_variant | MODIFIER | c.443-613C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48596991 | ||||||
| chr15:48597032
|
C | T | 2 | a0001c0001t0005g0136a0001c0001t0005g0280 | 2 | HG02572.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.443-654G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48597032 | ||||||
| chr15:48597265
|
C | T | 1 | a0002c0003t0005g0174 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.443-887G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48597265 | ||||||
| chr15:48597428
|
G | A | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.443-1050C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48597428 | ||||||
| chr15:48597466
|
C | G | 6 | a0001c0001t0005g0136a0001c0001t0005g0141a0001c0001t0005g0280others(3): Show | 6 | HG02257.hp1 HG02572.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.443-1088G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48597466 | ||||||
| chr15:48597508
|
C | T | 36 | a0001c0001t0010g0225a0001c0001t0011g0007a0001c0001t0011g0008others(33): Show | 36 | HG01167.hp2 HG01243.hp1 HG01255.hp1 others(33): Show |
intron_variant | MODIFIER | c.443-1130G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48597508 | ||||||
| chr15:48597537
|
A | C | 1 | a0001c0002t0003g0041 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.443-1159T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48597537 | ||||||
| chr15:48597744
|
A | G | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.443-1366T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48597744 | ||||||
| chr15:48597798
|
A | C | 1 | a0003c0008t0005g0015 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.443-1420T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48597798 | ||||||
| chr15:48597858
|
C | T | 7 | a0001c0001t0010g0018a0001c0002t0002g0005a0001c0002t0002g0006others(4): Show | 7 | HG01884.hp1 HG02451.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.443-1480G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48597858 | ||||||
| chr15:48597966
|
C | G | 1 | a0001c0001t0001g0100 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.443-1588G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48597966 | ||||||
| chr15:48598009
|
GC | G | 7 | a0001c0001t0010g0018a0001c0002t0002g0005a0001c0002t0002g0006others(4): Show | 7 | HG01884.hp1 HG02451.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.443-1632delG | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48598009 | ||||||
| chr15:48598011
|
C | T | 1 | a0001c0002t0003g0042 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.443-1633G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48598011 | ||||||
| chr15:48598054
|
T | C | 1 | a0001c0002t0003g0038 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.443-1676A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48598054 | ||||||
| chr15:48598124
|
G | A | 52 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(49): Show | 52 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(49): Show |
intron_variant | MODIFIER | c.443-1746C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48598124 | ||||||
| chr15:48598182
|
C | T | 12 | a0001c0001t0010g0225a0001c0001t0011g0007a0001c0001t0011g0008others(9): Show | 12 | HG01243.hp1 HG01884.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.443-1804G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48598182 | ||||||
| chr15:48598214
|
G | T | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.443-1836C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48598214 | ||||||
| chr15:48598229
|
A | G | 7 | a0001c0001t0010g0018a0001c0002t0002g0005a0001c0002t0002g0006others(4): Show | 7 | HG01884.hp1 HG02451.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.443-1851T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48598229 | ||||||
| chr15:48598272
|
A | C | 7 | a0001c0001t0010g0018a0001c0002t0002g0005a0001c0002t0002g0006others(4): Show | 7 | HG01884.hp1 HG02451.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.442+1867T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48598272 | ||||||
| chr15:48598387
|
T | G | 7 | a0001c0001t0010g0018a0001c0002t0002g0005a0001c0002t0002g0006others(4): Show | 7 | HG01884.hp1 HG02451.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.442+1752A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48598387 | ||||||
| chr15:48598399
|
G | T | 139 | a0001c0001t0001g0128a0001c0001t0001g0172a0001c0001t0001g0279others(136): Show | 139 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(136): Show |
intron_variant | MODIFIER | c.442+1740C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48598399 | ||||||
| chr15:48598413
|
T | C | 1 | a0009c0014t0001g0227 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.442+1726A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48598413 | ||||||
| chr15:48598473
|
A | T | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.442+1666T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48598473 | ||||||
| chr15:48598533
|
T | G | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.442+1606A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48598533 | ||||||
| chr15:48598760
|
C | T | 1 | a0001c0002t0002g0006 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.442+1379G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48598760 | ||||||
| chr15:48598793
|
T | C | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.442+1346A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48598793 | ||||||
| chr15:48598910
|
T | C | 21 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(18): Show | 21 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(18): Show |
intron_variant | MODIFIER | c.442+1229A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48598910 | ||||||
| chr15:48598962
|
T | G | 1 | a0001c0001t0001g0094 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.442+1177A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48598962 | ||||||
| chr15:48599150
|
T | A | 1 | a0001c0004t0004g0137 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.442+989A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48599150 | ||||||
| chr15:48599205
|
T | C | 3 | a0001c0002t0001g0022a0001c0002t0007g0021a0001c0005t0007g0197 | 3 | HG02723.hp2 HG03209.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.442+934A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48599205 | ||||||
| chr15:48599239
|
C | T | 1 | a0001c0001t0001g0252 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.442+900G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48599239 | ||||||
| chr15:48599361
|
G | A | 7 | a0001c0001t0010g0018a0001c0002t0002g0005a0001c0002t0002g0006others(4): Show | 7 | HG01884.hp1 HG02451.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.442+778C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48599361 | ||||||
| chr15:48599427
|
A | G | 3 | a0001c0001t0001g0128a0001c0001t0001g0279a0010c0020t0001g0129 | 3 | HG02630.hp2 HG02717.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.442+712T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48599427 | ||||||
| chr15:48599538
|
C | CA | 41 | a0001c0001t0001g0128a0001c0001t0001g0279a0001c0001t0010g0225others(38): Show | 41 | HG01167.hp2 HG01243.hp1 HG01255.hp1 others(38): Show |
intron_variant | MODIFIER | c.442+600dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48599538 | ||||||
| chr15:48599574
|
G | A | 15 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(12): Show | 15 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(12): Show |
intron_variant | MODIFIER | c.442+565C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48599574 | ||||||
| chr15:48599768
|
C | T | 226 | a0001c0001t0001g0002a0001c0001t0001g0088a0001c0001t0001g0089others(223): Show | 226 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(223): Show |
intron_variant | MODIFIER | c.442+371G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48599768 | ||||||
| chr15:48599777
|
A | G | 1 | a0001c0005t0001g0198 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.442+362T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48599777 | ||||||
| chr15:48599913
|
T | G | 1 | a0001c0001t0001g0250 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.442+226A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48599913 | ||||||
| chr15:48599933
|
C | T | 29 | a0001c0002t0001g0051a0001c0004t0004g0048a0001c0004t0004g0049others(26): Show | 29 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(26): Show |
intron_variant | MODIFIER | c.442+206G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48599933 | ||||||
| chr15:48600050
|
C | T | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.442+89G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 5/65 | chr15 | 48600050 | ||||||
| chr15:48600619
|
G | A | 1 | a0001c0002t0001g0020 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.347-385C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48600619 | ||||||
| chr15:48600666
|
C | A | 1 | a0001c0001t0005g0221 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.347-432G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48600666 | ||||||
| chr15:48600696
|
G | A | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.347-462C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48600696 | ||||||
| chr15:48600700
|
G | A | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.347-466C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48600700 | ||||||
| chr15:48600735
|
T | C | 56 | a0001c0002t0001g0011a0001c0002t0001g0051a0001c0002t0003g0024others(53): Show | 56 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(53): Show |
intron_variant | MODIFIER | c.347-501A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48600735 | ||||||
| chr15:48600742
|
C | T | 170 | a0001c0001t0001g0128a0001c0001t0001g0172a0001c0001t0001g0279others(167): Show | 170 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(167): Show |
intron_variant | MODIFIER | c.347-508G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48600742 | ||||||
| chr15:48601115
|
C | A | 1 | a0001c0002t0003g0036 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.347-881G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48601115 | ||||||
| chr15:48601159
|
GCTGACAG others(3): Show |
G | 1 | a0001c0001t0001g0177 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.347-935_347-926del others(10): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48601159 | ||||||
| chr15:48601199
|
A | G | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.347-965T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48601199 | ||||||
| chr15:48601256
|
G | A | 1 | a0001c0002t0003g0038 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.347-1022C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48601256 | ||||||
| chr15:48601395
|
A | G | 3 | a0001c0001t0008g0121a0003c0008t0005g0015a0003c0008t0005g0122 | 3 | HG02257.hp1 HG02622.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.347-1161T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48601395 | ||||||
| chr15:48601452
|
T | C | 17 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(14): Show | 17 | HG00642.hp2 HG01167.hp2 HG01361.hp1 others(14): Show |
intron_variant | MODIFIER | c.347-1218A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48601452 | ||||||
| chr15:48601527
|
A | G | 3 | a0001c0002t0001g0011a0001c0002t0003g0024a0001c0004t0010g0012 | 3 | HG02818.hp2 HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.347-1293T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48601527 | ||||||
| chr15:48601568
|
C | A | 1 | a0001c0002t0003g0037 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.347-1334G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48601568 | ||||||
| chr15:48601800
|
G | T | 3 | a0001c0001t0001g0128a0001c0001t0001g0279a0010c0020t0001g0129 | 3 | HG02630.hp2 HG02717.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.347-1566C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48601800 | ||||||
| chr15:48601847
|
A | G | 3 | a0001c0002t0001g0011a0001c0002t0003g0024a0001c0004t0010g0012 | 3 | HG02818.hp2 HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.347-1613T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48601847 | ||||||
| chr15:48601967
|
T | G | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.347-1733A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48601967 | ||||||
| chr15:48602003
|
A | T | 23 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(20): Show | 23 | HG00642.hp2 HG01167.hp2 HG01361.hp1 others(20): Show |
intron_variant | MODIFIER | c.347-1769T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48602003 | ||||||
| chr15:48602205
|
A | C | 2 | a0001c0001t0002g0214a0001c0006t0013g0215 | 2 | HG03209.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.347-1971T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48602205 | ||||||
| chr15:48602209
|
C | T | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.347-1975G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48602209 | ||||||
| chr15:48602218
|
G | A | 1 | a0001c0001t0010g0225 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.347-1984C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48602218 | ||||||
| chr15:48602413
|
G | C | 53 | a0001c0002t0001g0051a0001c0002t0003g0025a0001c0002t0003g0026others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.347-2179C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48602413 | ||||||
| chr15:48602555
|
C | T | 3 | a0001c0002t0007g0127a0001c0005t0001g0201a0001c0005t0007g0200 | 3 | HG01255.hp1 HG02622.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.347-2321G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48602555 | ||||||
| chr15:48602673
|
G | A | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.347-2439C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48602673 | ||||||
| chr15:48602711
|
G | A | 55 | a0001c0001t0001g0128a0001c0001t0001g0279a0001c0002t0003g0025others(52): Show | 55 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(52): Show |
intron_variant | MODIFIER | c.347-2477C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48602711 | ||||||
| chr15:48602977
|
C | G | 1 | a0001c0001t0001g0232 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.347-2743G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48602977 | ||||||
| chr15:48603055
|
T | C | 1 | a0001c0004t0004g0083 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.347-2821A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48603055 | ||||||
| chr15:48603163
|
T | C | 7 | a0001c0001t0001g0098a0001c0001t0001g0110a0001c0001t0001g0226others(4): Show | 7 | HG01123.hp2 HG01192.hp2 HG01257.hp2 others(4): Show |
intron_variant | MODIFIER | c.347-2929A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48603163 | ||||||
| chr15:48603234
|
T | C | 39 | a0001c0001t0001g0172a0001c0002t0001g0051a0002c0003t0001g0162others(36): Show | 39 | HG00597.hp1 HG00621.hp1 HG01346.hp2 others(36): Show |
intron_variant | MODIFIER | c.347-3000A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48603234 | ||||||
| chr15:48603370
|
C | CTT | 210 | a0001c0001t0001g0002a0001c0001t0001g0088a0001c0001t0001g0089others(207): Show | 210 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(207): Show |
intron_variant | MODIFIER | c.347-3137_347-3136i others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48603370 | ||||||
| chr15:48603403
|
G | A | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.347-3169C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48603403 | ||||||
| chr15:48603436
|
C | T | 2 | a0001c0001t0001g0182a0002c0003t0005g0152 | 2 | NA19056.hp2 NA19070.hp2 |
intron_variant | MODIFIER | c.347-3202G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48603436 | ||||||
| chr15:48603484
|
C | T | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.347-3250G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48603484 | ||||||
| chr15:48603494
|
A | G | 37 | a0001c0001t0001g0172a0001c0002t0001g0051a0002c0003t0001g0162others(34): Show | 37 | HG00597.hp1 HG00621.hp1 HG01346.hp2 others(34): Show |
intron_variant | MODIFIER | c.347-3260T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48603494 | ||||||
| chr15:48603497
|
A | G | 5 | a0001c0002t0002g0125a0001c0002t0002g0126a0001c0002t0002g0282others(2): Show | 5 | HG02257.hp2 HG02280.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.347-3263T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48603497 | ||||||
| chr15:48603847
|
C | T | 7 | a0001c0002t0002g0125a0001c0002t0002g0126a0001c0002t0002g0282others(4): Show | 7 | HG02257.hp2 HG02280.hp2 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.347-3613G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48603847 | ||||||
| chr15:48603889
|
T | A | 52 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(49): Show | 52 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(49): Show |
intron_variant | MODIFIER | c.347-3655A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48603889 | ||||||
| chr15:48603891
|
A | C | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.347-3657T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48603891 | ||||||
| chr15:48604017
|
G | C | 1 | a0001c0001t0024g0112 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.347-3783C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48604017 | ||||||
| chr15:48604096
|
CTTAAATG others(108): Show |
C | 7 | a0001c0001t0010g0225a0001c0004t0004g0017a0001c0006t0014g0004others(4): Show | 7 | HG01884.hp2 HG02258.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.347-3977_347-3863d others(2): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48604096 | ||||||
| chr15:48604215
|
G | A | 7 | a0001c0001t0010g0225a0001c0004t0004g0017a0001c0006t0014g0004others(4): Show | 7 | HG01884.hp2 HG02258.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.347-3981C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48604215 | ||||||
| chr15:48604281
|
T | C | 1 | a0001c0001t0003g0224 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.347-4047A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48604281 | ||||||
| chr15:48604297
|
T | G | 10 | a0001c0001t0001g0002a0001c0001t0001g0130a0001c0001t0001g0131others(7): Show | 10 | HG01167.hp1 HG02258.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.347-4063A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48604297 | ||||||
| chr15:48604304
|
C | T | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.347-4070G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48604304 | ||||||
| chr15:48604631
|
C | T | 1 | a0001c0005t0007g0200 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.347-4397G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48604631 | ||||||
| chr15:48604633
|
T | C | 76 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(73): Show | 76 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(73): Show |
intron_variant | MODIFIER | c.347-4399A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48604633 | ||||||
| chr15:48604731
|
A | T | 4 | a0001c0001t0001g0265a0001c0001t0001g0269a0001c0001t0001g0272others(1): Show | 4 | HG00544.hp2 HG01257.hp1 NA18986.hp2 others(1): Show |
intron_variant | MODIFIER | c.347-4497T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48604731 | ||||||
| chr15:48604781
|
C | T | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.347-4547G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48604781 | ||||||
| chr15:48604929
|
C | G | 1 | a0001c0001t0002g0073 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.347-4695G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48604929 | ||||||
| chr15:48604951
|
T | G | 23 | a0001c0002t0001g0124a0001c0002t0001g0283a0001c0002t0002g0084others(20): Show | 23 | HG01255.hp1 HG02257.hp2 HG02280.hp2 others(20): Show |
intron_variant | MODIFIER | c.347-4717A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48604951 | ||||||
| chr15:48605051
|
C | G | 1 | a0001c0002t0004g0043 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.347-4817G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48605051 | ||||||
| chr15:48605085
|
C | T | 16 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(13): Show | 16 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(13): Show |
intron_variant | MODIFIER | c.347-4851G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48605085 | ||||||
| chr15:48605126
|
C | G | 52 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(49): Show | 52 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(49): Show |
intron_variant | MODIFIER | c.347-4892G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48605126 | ||||||
| chr15:48605212
|
T | TG | 36 | a0001c0001t0001g0172a0001c0002t0001g0051a0002c0003t0001g0162others(33): Show | 36 | HG00597.hp1 HG00621.hp1 HG01346.hp2 others(33): Show |
intron_variant | MODIFIER | c.347-4979dupC | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48605212 | ||||||
| chr15:48605219
|
G | A | 158 | a0001c0001t0001g0128a0001c0001t0001g0172a0001c0001t0001g0279others(155): Show | 158 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(155): Show |
intron_variant | MODIFIER | c.347-4985C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48605219 | ||||||
| chr15:48605298
|
C | T | 3 | a0002c0003t0006g0150a0002c0003t0006g0151a0002c0003t0006g0167 | 3 | NA18986.hp1 NA19007.hp2 NA19065.hp2 |
intron_variant | MODIFIER | c.347-5064G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48605298 | ||||||
| chr15:48605488
|
C | A | 39 | a0001c0001t0001g0128a0001c0001t0001g0279a0001c0001t0010g0225others(36): Show | 39 | HG01243.hp1 HG01255.hp1 HG01884.hp2 others(36): Show |
intron_variant | MODIFIER | c.346+5240G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48605488 | ||||||
| chr15:48605697
|
A | T | 1 | a0001c0002t0003g0042 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.346+5031T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48605697 | ||||||
| chr15:48605698
|
C | T | 1 | a0001c0002t0003g0042 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.346+5030G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48605698 | ||||||
| chr15:48605798
|
C | G | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.346+4930G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48605798 | ||||||
| chr15:48605830
|
G | T | 1 | a0001c0022t0013g0010 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.346+4898C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48605830 | ||||||
| chr15:48605870
|
G | A | 4 | a0001c0004t0004g0049a0001c0004t0004g0065a0001c0004t0004g0066others(1): Show | 4 | NA18992.hp1 NA19000.hp1 NA19074.hp1 others(1): Show |
intron_variant | MODIFIER | c.346+4858C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48605870 | ||||||
| chr15:48605904
|
C | T | 3 | a0001c0001t0008g0121a0003c0008t0005g0015a0003c0008t0005g0122 | 3 | HG02257.hp1 HG02622.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.346+4824G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48605904 | ||||||
| chr15:48606038
|
A | T | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.346+4690T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48606038 | ||||||
| chr15:48606103
|
G | A | 3 | a0001c0001t0001g0128a0001c0001t0001g0279a0010c0020t0001g0129 | 3 | HG02630.hp2 HG02717.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.346+4625C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48606103 | ||||||
| chr15:48606306
|
T | A | 1 | a0001c0001t0001g0220 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.346+4422A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48606306 | ||||||
| chr15:48606378
|
C | T | 13 | a0001c0001t0001g0090a0001c0001t0001g0132a0001c0001t0001g0178others(10): Show | 13 | HG00408.hp1 NA18946.hp1 NA18954.hp1 others(10): Show |
intron_variant | MODIFIER | c.346+4350G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48606378 | ||||||
| chr15:48606380
|
A | G | 3 | a0001c0002t0001g0011a0001c0002t0003g0024a0001c0004t0010g0012 | 3 | HG02818.hp2 HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.346+4348T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48606380 | ||||||
| chr15:48606524
|
G | C | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.346+4204C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48606524 | ||||||
| chr15:48606577
|
AAG | A | 3 | a0001c0001t0001g0231a0001c0001t0001g0235a0011c0023t0001g0234 | 3 | HG00597.hp2 NA18944.hp1 NA19077.hp1 |
intron_variant | MODIFIER | c.346+4149_346+4150d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48606577 | ||||||
| chr15:48606872
|
G | A | 3 | a0001c0001t0001g0095a0001c0001t0001g0108a0001c0001t0001g0116 | 3 | HG03688.hp2 HG04228.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.346+3856C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48606872 | ||||||
| chr15:48607005
|
C | G | 1 | a0002c0003t0006g0149 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.346+3723G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48607005 | ||||||
| chr15:48607016
|
T | A | 1 | a0001c0002t0008g0285 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.346+3712A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48607016 | ||||||
| chr15:48607016
|
T | C | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.346+3712A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48607016 | ||||||
| chr15:48607091
|
G | C | 39 | a0001c0001t0001g0128a0001c0001t0001g0279a0001c0001t0010g0225others(36): Show | 39 | HG01243.hp1 HG01255.hp1 HG01884.hp2 others(36): Show |
intron_variant | MODIFIER | c.346+3637C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48607091 | ||||||
| chr15:48607202
|
G | A | 16 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(13): Show | 16 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(13): Show |
intron_variant | MODIFIER | c.346+3526C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48607202 | ||||||
| chr15:48607338
|
A | T | 1 | a0001c0002t0003g0038 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.346+3390T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48607338 | ||||||
| chr15:48607367
|
C | CAT | 53 | a0001c0002t0001g0051a0001c0002t0003g0025a0001c0002t0003g0026others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.346+3359_346+3360d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48607367 | ||||||
| chr15:48607367
|
CAT | C | 70 | a0001c0001t0001g0128a0001c0001t0001g0172a0001c0001t0001g0279others(67): Show | 70 | HG00597.hp1 HG00621.hp1 HG01255.hp1 others(67): Show |
intron_variant | MODIFIER | c.346+3359_346+3360d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48607367 | ||||||
| chr15:48607367
|
CATAT | C | 133 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(130): Show | 133 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(130): Show |
intron_variant | MODIFIER | c.346+3357_346+3360d others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48607367 | ||||||
| chr15:48607374
|
A | ATC | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.346+3353_346+3354i others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48607374 | ||||||
| chr15:48607481
|
A | T | 2 | a0002c0003t0002g0147a0002c0003t0002g0148 | 2 | NA18956.hp1 NA19081.hp1 |
intron_variant | MODIFIER | c.346+3247T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48607481 | ||||||
| chr15:48607527
|
T | TA | 98 | a0001c0001t0001g0128a0001c0001t0001g0172a0001c0001t0001g0279others(95): Show | 98 | HG00597.hp1 HG00621.hp1 HG01167.hp1 others(95): Show |
intron_variant | MODIFIER | c.346+3200dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48607527 | ||||||
| chr15:48607527
|
T | TAAA | 76 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(73): Show | 76 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(73): Show |
intron_variant | MODIFIER | c.346+3198_346+3200d others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48607527 | ||||||
| chr15:48607548
|
A | G | 76 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(73): Show | 76 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(73): Show |
intron_variant | MODIFIER | c.346+3180T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48607548 | ||||||
| chr15:48607654
|
C | A | 2 | a0001c0001t0002g0214a0001c0006t0013g0215 | 2 | HG03209.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.346+3074G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48607654 | ||||||
| chr15:48607900
|
C | T | 16 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(13): Show | 16 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(13): Show |
intron_variant | MODIFIER | c.346+2828G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48607900 | ||||||
| chr15:48608120
|
T | C | 1 | a0001c0001t0001g0191 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.346+2608A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48608120 | ||||||
| chr15:48608318
|
G | A | 2 | a0001c0001t0001g0230a0001c0001t0001g0239 | 2 | HG01175.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.346+2410C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48608318 | ||||||
| chr15:48608389
|
T | C | 56 | a0001c0002t0001g0011a0001c0002t0001g0051a0001c0002t0003g0024others(53): Show | 56 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(53): Show |
intron_variant | MODIFIER | c.346+2339A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48608389 | ||||||
| chr15:48609022
|
G | A | 1 | a0001c0006t0014g0004 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.346+1706C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48609022 | ||||||
| chr15:48609110
|
T | C | 4 | a0001c0002t0001g0051a0001c0004t0004g0064a0001c0004t0004g0105others(1): Show | 4 | HG00544.hp1 HG02155.hp2 NA18963.hp1 others(1): Show |
intron_variant | MODIFIER | c.346+1618A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48609110 | ||||||
| chr15:48609116
|
C | T | 53 | a0001c0002t0001g0051a0001c0002t0003g0025a0001c0002t0003g0026others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.346+1612G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48609116 | ||||||
| chr15:48609128
|
G | A | 1 | a0001c0002t0002g0084 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.346+1600C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48609128 | ||||||
| chr15:48609192
|
T | C | 77 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(74): Show | 77 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(74): Show |
intron_variant | MODIFIER | c.346+1536A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48609192 | ||||||
| chr15:48609223
|
C | G | 23 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(20): Show | 23 | HG00642.hp2 HG01167.hp2 HG01361.hp1 others(20): Show |
intron_variant | MODIFIER | c.346+1505G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48609223 | ||||||
| chr15:48609487
|
A | G | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.346+1241T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48609487 | ||||||
| chr15:48609604
|
A | C | 5 | a0001c0001t0009g0257a0001c0001t0009g0258a0001c0001t0009g0267others(2): Show | 5 | HG01928.hp1 HG02080.hp1 NA18992.hp2 others(2): Show |
intron_variant | MODIFIER | c.346+1124T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48609604 | ||||||
| chr15:48609770
|
T | C | 2 | a0001c0001t0002g0214a0001c0006t0013g0215 | 2 | HG03209.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.346+958A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48609770 | ||||||
| chr15:48609861
|
G | A | 1 | a0001c0002t0003g0082 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.346+867C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48609861 | ||||||
| chr15:48609904
|
T | G | 3 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085 | 3 | HG03098.hp1 HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.346+824A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48609904 | ||||||
| chr15:48610053
|
G | A | 1 | a0001c0001t0001g0229 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.346+675C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48610053 | ||||||
| chr15:48610142
|
A | G | 1 | a0001c0001t0001g0092 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.346+586T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48610142 | ||||||
| chr15:48610310
|
G | T | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.346+418C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 4/65 | chr15 | 48610310 | ||||||
| chr15:48610870
|
C | T | 1 | a0001c0001t0002g0073 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.248-44G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 3/65 | chr15 | 48610870 | ||||||
| chr15:48610929
|
A | G | 272 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(269): Show | 272 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(269): Show |
intron_variant | MODIFIER | c.248-103T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 3/65 | chr15 | 48610929 | ||||||
| chr15:48611024
|
C | T | 3 | a0001c0001t0002g0072a0001c0001t0002g0075a0001c0001t0002g0076 | 3 | HG01517.hp2 HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.248-198G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 3/65 | chr15 | 48611024 | ||||||
| chr15:48611288
|
T | C | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.248-462A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 3/65 | chr15 | 48611288 | ||||||
| chr15:48611386
|
G | A | 38 | a0001c0001t0001g0172a0002c0003t0001g0162a0002c0003t0002g0145others(35): Show | 38 | HG00597.hp1 HG00621.hp1 HG01346.hp2 others(35): Show |
intron_variant | MODIFIER | c.248-560C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 3/65 | chr15 | 48611386 | ||||||
| chr15:48611550
|
G | A | 1 | a0001c0001t0001g0237 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.248-724C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 3/65 | chr15 | 48611550 | ||||||
| chr15:48611614
|
C | G | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.248-788G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 3/65 | chr15 | 48611614 | ||||||
| chr15:48611759
|
A | G | 2 | a0001c0001t0001g0277a0001c0001t0001g0278 | 2 | HG02976.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.248-933T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 3/65 | chr15 | 48611759 | ||||||
| chr15:48611884
|
T | C | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.248-1058A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 3/65 | chr15 | 48611884 | ||||||
| chr15:48612272
|
T | C | 1 | a0001c0001t0002g0080 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.247+738A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 3/65 | chr15 | 48612272 | ||||||
| chr15:48612398
|
T | G | 1 | a0001c0001t0002g0091 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.247+612A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 3/65 | chr15 | 48612398 | ||||||
| chr15:48612449
|
C | T | 7 | a0001c0001t0010g0018a0001c0002t0002g0005a0001c0002t0002g0006others(4): Show | 7 | HG01884.hp1 HG02451.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.247+561G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 3/65 | chr15 | 48612449 | ||||||
| chr15:48612704
|
A | C | 1 | a0001c0002t0003g0027 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.247+306T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 3/65 | chr15 | 48612704 | ||||||
| chr15:48612815
|
G | A | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.247+195C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 3/65 | chr15 | 48612815 | ||||||
| chr15:48612915
|
T | C | 4 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0279others(1): Show | 4 | HG02630.hp2 HG02717.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.247+95A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 3/65 | chr15 | 48612915 | ||||||
| chr15:48613007
|
T | C | 1 | a0001c0001t0009g0267 | 1 | HG01928.hp1 | splice_region_variant&intron_variant | LOW | c.247+3A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 3/65 | chr15 | 48613007 | ||||||
| chr15:48613333
|
G | A | 2 | a0001c0001t0002g0075a0001c0001t0002g0076 | 2 | HG02922.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.165-241C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48613333 | ||||||
| chr15:48613496
|
A | G | 1 | a0001c0001t0001g0220 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.165-404T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48613496 | ||||||
| chr15:48613513
|
C | T | 58 | a0001c0001t0010g0018a0001c0002t0002g0005a0001c0002t0002g0006others(55): Show | 58 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(55): Show |
intron_variant | MODIFIER | c.165-421G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48613513 | ||||||
| chr15:48613604
|
G | A | 1 | a0001c0002t0001g0020 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.165-512C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48613604 | ||||||
| chr15:48613619
|
T | C | 58 | a0001c0002t0001g0051a0001c0002t0002g0005a0001c0002t0002g0006others(55): Show | 58 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(55): Show |
intron_variant | MODIFIER | c.165-527A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48613619 | ||||||
| chr15:48613819
|
T | G | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.165-727A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48613819 | ||||||
| chr15:48613835
|
C | T | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.165-743G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48613835 | ||||||
| chr15:48613995
|
T | C | 1 | a0001c0001t0001g0251 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.165-903A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48613995 | ||||||
| chr15:48614258
|
CA | C | 3 | a0001c0001t0009g0257a0001c0001t0009g0258a0001c0001t0009g0267 | 3 | HG01928.hp1 HG02080.hp1 NA18992.hp2 |
intron_variant | MODIFIER | c.165-1167delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48614258 | ||||||
| chr15:48614260
|
A | G | 37 | a0001c0001t0001g0172a0001c0002t0001g0051a0002c0003t0001g0162others(34): Show | 37 | HG00597.hp1 HG00621.hp1 HG01346.hp2 others(34): Show |
intron_variant | MODIFIER | c.165-1168T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48614260 | ||||||
| chr15:48614380
|
A | G | 75 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(72): Show | 75 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(72): Show |
intron_variant | MODIFIER | c.165-1288T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48614380 | ||||||
| chr15:48614447
|
A | G | 1 | a0001c0001t0005g0141 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.165-1355T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48614447 | ||||||
| chr15:48614478
|
A | G | 3 | a0001c0001t0001g0128a0001c0001t0001g0279a0010c0020t0001g0129 | 3 | HG02630.hp2 HG02717.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.165-1386T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48614478 | ||||||
| chr15:48614495
|
T | G | 9 | a0001c0001t0005g0136a0001c0001t0005g0141a0001c0001t0005g0280others(6): Show | 9 | HG01243.hp1 HG02257.hp1 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.165-1403A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48614495 | ||||||
| chr15:48614984
|
C | T | 58 | a0001c0001t0010g0018a0001c0002t0002g0005a0001c0002t0002g0006others(55): Show | 58 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(55): Show |
intron_variant | MODIFIER | c.165-1892G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48614984 | ||||||
| chr15:48615195
|
T | C | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.165-2103A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48615195 | ||||||
| chr15:48615222
|
T | C | 1 | a0001c0001t0005g0141 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.165-2130A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48615222 | ||||||
| chr15:48615239
|
T | C | 3 | a0001c0002t0001g0011a0001c0002t0003g0024a0001c0004t0010g0012 | 3 | HG02818.hp2 HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.165-2147A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48615239 | ||||||
| chr15:48615280
|
T | G | 1 | a0001c0004t0022g0139 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.165-2188A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48615280 | ||||||
| chr15:48615415
|
T | G | 2 | a0001c0002t0001g0022a0001c0002t0007g0021 | 2 | HG03209.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.165-2323A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48615415 | ||||||
| chr15:48615487
|
T | C | 52 | a0001c0002t0001g0051a0001c0002t0003g0025a0001c0002t0003g0026others(49): Show | 52 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(49): Show |
intron_variant | MODIFIER | c.165-2395A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48615487 | ||||||
| chr15:48615599
|
G | A | 2 | a0001c0001t0002g0214a0001c0006t0013g0215 | 2 | HG03209.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.165-2507C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48615599 | ||||||
| chr15:48615618
|
G | A | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.165-2526C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48615618 | ||||||
| chr15:48615691
|
T | C | 1 | a0001c0001t0001g0240 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.165-2599A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48615691 | ||||||
| chr15:48615711
|
C | G | 1 | a0001c0001t0001g0254 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.165-2619G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48615711 | ||||||
| chr15:48615752
|
TGAA | T | 23 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(20): Show | 23 | HG00099.hp1 HG00642.hp1 HG00741.hp2 others(20): Show |
intron_variant | MODIFIER | c.165-2663_165-2661d others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48615752 | ||||||
| chr15:48615981
|
T | C | 9 | a0001c0001t0005g0136a0001c0001t0005g0141a0001c0001t0005g0280others(6): Show | 9 | HG01243.hp1 HG02257.hp1 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.165-2889A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48615981 | ||||||
| chr15:48616051
|
C | G | 1 | a0001c0001t0002g0081 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.165-2959G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48616051 | ||||||
| chr15:48616126
|
T | C | 1 | a0001c0025t0008g0203 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.165-3034A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48616126 | ||||||
| chr15:48616151
|
T | C | 3 | a0001c0002t0001g0022a0001c0002t0007g0021a0001c0005t0007g0197 | 3 | HG02723.hp2 HG03209.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.165-3059A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48616151 | ||||||
| chr15:48616297
|
T | C | 58 | a0001c0002t0001g0051a0001c0002t0002g0005a0001c0002t0002g0006others(55): Show | 58 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(55): Show |
intron_variant | MODIFIER | c.165-3205A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48616297 | ||||||
| chr15:48616337
|
G | A | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.165-3245C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48616337 | ||||||
| chr15:48616559
|
C | A | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.165-3467G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48616559 | ||||||
| chr15:48616628
|
A | T | 2 | a0001c0001t0012g0113a0001c0001t0012g0114 | 2 | HG01167.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.165-3536T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48616628 | ||||||
| chr15:48616663
|
A | T | 3 | a0001c0002t0007g0127a0001c0005t0001g0201a0001c0005t0007g0200 | 3 | HG01255.hp1 HG02622.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.165-3571T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48616663 | ||||||
| chr15:48616712
|
T | A | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.165-3620A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48616712 | ||||||
| chr15:48616960
|
T | G | 37 | a0001c0001t0001g0172a0001c0002t0001g0051a0002c0003t0001g0162others(34): Show | 37 | HG00597.hp1 HG00621.hp1 HG01346.hp2 others(34): Show |
intron_variant | MODIFIER | c.165-3868A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48616960 | ||||||
| chr15:48617014
|
G | A | 1 | a0001c0001t0001g0106 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.165-3922C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48617014 | ||||||
| chr15:48617023
|
C | T | 1 | a0001c0002t0001g0020 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.165-3931G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48617023 | ||||||
| chr15:48617096
|
A | G | 1 | a0002c0003t0005g0146 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.165-4004T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48617096 | ||||||
| chr15:48617166
|
G | GT | 9 | a0001c0001t0001g0002a0001c0001t0001g0100a0001c0001t0001g0128others(6): Show | 9 | HG01167.hp2 HG02056.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.165-4075dupA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48617166 | ||||||
| chr15:48617166
|
G | T | 3 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135 | 3 | HG02451.hp2 HG02486.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.165-4074C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48617166 | ||||||
| chr15:48617463
|
G | A | 1 | a0001c0001t0001g0279 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.165-4371C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48617463 | ||||||
| chr15:48617560
|
C | T | 1 | a0001c0002t0001g0020 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.165-4468G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48617560 | ||||||
| chr15:48617744
|
C | T | 1 | a0001c0001t0001g0090 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.165-4652G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48617744 | ||||||
| chr15:48617982
|
A | G | 3 | a0001c0002t0001g0011a0001c0002t0003g0024a0001c0004t0010g0012 | 3 | HG02818.hp2 HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.165-4890T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48617982 | ||||||
| chr15:48618043
|
A | G | 170 | a0001c0001t0001g0002a0001c0001t0001g0090a0001c0001t0001g0128others(167): Show | 170 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(167): Show |
intron_variant | MODIFIER | c.165-4951T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48618043 | ||||||
| chr15:48618116
|
T | A | 3 | a0001c0002t0001g0011a0001c0002t0003g0024a0001c0004t0010g0012 | 3 | HG02818.hp2 HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.165-5024A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48618116 | ||||||
| chr15:48618166
|
C | A | 1 | a0001c0005t0007g0197 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.165-5074G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48618166 | ||||||
| chr15:48618221
|
G | C | 1 | a0012c0011t0027g0213 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.165-5129C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48618221 | ||||||
| chr15:48618394
|
A | G | 51 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(48): Show | 51 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(48): Show |
intron_variant | MODIFIER | c.165-5302T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48618394 | ||||||
| chr15:48618874
|
G | C | 2 | a0001c0001t0002g0214a0001c0006t0013g0215 | 2 | HG03209.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.165-5782C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48618874 | ||||||
| chr15:48619109
|
G | C | 1 | a0001c0025t0008g0203 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.165-6017C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48619109 | ||||||
| chr15:48619360
|
G | C | 1 | a0001c0004t0004g0083 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.165-6268C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48619360 | ||||||
| chr15:48619415
|
G | A | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.165-6323C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48619415 | ||||||
| chr15:48619416
|
T | C | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.165-6324A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48619416 | ||||||
| chr15:48619487
|
T | C | 62 | a0001c0002t0001g0011a0001c0002t0001g0051a0001c0002t0002g0005others(59): Show | 62 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(59): Show |
intron_variant | MODIFIER | c.165-6395A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48619487 | ||||||
| chr15:48619574
|
A | T | 1 | a0001c0001t0001g0243 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.165-6482T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48619574 | ||||||
| chr15:48619718
|
A | T | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.165-6626T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48619718 | ||||||
| chr15:48619726
|
GT | G | 4 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0279others(1): Show | 4 | HG02630.hp2 HG02717.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.165-6635delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48619726 | ||||||
| chr15:48619773
|
G | A | 1 | a0001c0001t0010g0225 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.165-6681C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48619773 | ||||||
| chr15:48619875
|
TA | T | 33 | a0001c0001t0001g0182a0001c0001t0002g0214a0001c0001t0011g0007others(30): Show | 33 | HG00099.hp1 HG00642.hp1 HG00741.hp2 others(30): Show |
intron_variant | MODIFIER | c.165-6784delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48619875 | ||||||
| chr15:48619952
|
C | T | 2 | a0001c0001t0001g0095a0001c0001t0001g0116 | 2 | HG03688.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.165-6860G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48619952 | ||||||
| chr15:48620255
|
G | A | 1 | a0001c0004t0022g0139 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.165-7163C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48620255 | ||||||
| chr15:48620268
|
T | C | 1 | a0001c0001t0009g0267 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.165-7176A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48620268 | ||||||
| chr15:48620347
|
A | G | 1 | a0002c0003t0005g0143 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.165-7255T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48620347 | ||||||
| chr15:48620426
|
C | T | 61 | a0001c0002t0001g0011a0001c0002t0001g0051a0001c0002t0002g0005others(58): Show | 61 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(58): Show |
intron_variant | MODIFIER | c.165-7334G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48620426 | ||||||
| chr15:48620840
|
T | C | 2 | a0001c0001t0002g0214a0001c0006t0013g0215 | 2 | HG03209.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.165-7748A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48620840 | ||||||
| chr15:48621160
|
C | T | 23 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(20): Show | 23 | HG00099.hp1 HG00642.hp1 HG00741.hp2 others(20): Show |
intron_variant | MODIFIER | c.165-8068G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48621160 | ||||||
| chr15:48621181
|
G | C | 3 | a0001c0001t0001g0095a0001c0001t0001g0116a0001c0001t0020g0070 | 3 | HG03688.hp2 HG03704.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.165-8089C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48621181 | ||||||
| chr15:48621189
|
G | C | 36 | a0001c0001t0001g0172a0002c0003t0001g0162a0002c0003t0002g0145others(33): Show | 36 | HG00597.hp1 HG00621.hp1 HG01346.hp2 others(33): Show |
intron_variant | MODIFIER | c.165-8097C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48621189 | ||||||
| chr15:48621334
|
C | T | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.165-8242G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48621334 | ||||||
| chr15:48621497
|
C | G | 1 | a0001c0025t0008g0203 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.165-8405G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48621497 | ||||||
| chr15:48621596
|
GTGGTATC others(11): Show |
G | 3 | a0001c0002t0001g0011a0001c0002t0003g0024a0001c0004t0010g0012 | 3 | HG02818.hp2 HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.165-8522_165-8505d others(20): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48621596 | ||||||
| chr15:48621726
|
C | T | 2 | a0001c0001t0002g0214a0001c0006t0013g0215 | 2 | HG03209.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.165-8634G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48621726 | ||||||
| chr15:48621727
|
G | A | 2 | a0005c0016t0011g0123a0012c0011t0027g0213 | 2 | HG02451.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.165-8635C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48621727 | ||||||
| chr15:48621728
|
C | A | 2 | a0005c0016t0011g0123a0012c0011t0027g0213 | 2 | HG02451.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.165-8636G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48621728 | ||||||
| chr15:48621832
|
C | CA | 12 | a0001c0001t0001g0182a0001c0001t0001g0275a0001c0001t0002g0071others(9): Show | 12 | HG02080.hp2 HG02293.hp2 HG02602.hp2 others(9): Show |
intron_variant | MODIFIER | c.165-8741dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48621832 | ||||||
| chr15:48621844
|
A | G | 9 | a0001c0001t0005g0136a0001c0001t0005g0141a0001c0001t0005g0280others(6): Show | 9 | HG01243.hp1 HG02257.hp1 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.165-8752T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48621844 | ||||||
| chr15:48621855
|
G | A | 1 | a0001c0001t0002g0074 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.165-8763C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48621855 | ||||||
| chr15:48621859
|
G | A | 1 | a0001c0001t0001g0217 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.165-8767C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48621859 | ||||||
| chr15:48621861
|
G | T | 1 | a0001c0004t0004g0137 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.165-8769C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48621861 | ||||||
| chr15:48621867
|
G | A | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.165-8775C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48621867 | ||||||
| chr15:48621984
|
C | T | 1 | a0001c0004t0004g0083 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.165-8892G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48621984 | ||||||
| chr15:48621990
|
T | A | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.165-8898A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48621990 | ||||||
| chr15:48621992
|
T | C | 285 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(282): Show | 285 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(282): Show |
intron_variant | MODIFIER | c.165-8900A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48621992 | ||||||
| chr15:48621997
|
C | CA | 6 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0279others(3): Show | 6 | HG02630.hp2 HG02717.hp1 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.165-8906dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48621997 | ||||||
| chr15:48622002
|
A | G | 1 | a0001c0002t0001g0020 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.165-8910T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48622002 | ||||||
| chr15:48622049
|
C | T | 1 | a0001c0022t0013g0010 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.165-8957G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48622049 | ||||||
| chr15:48622050
|
G | A | 1 | a0001c0001t0009g0264 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.165-8958C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48622050 | ||||||
| chr15:48622238
|
G | C | 2 | a0001c0001t0002g0288a0001c0001t0020g0070 | 2 | HG03704.hp1 HG03834.hp2 |
intron_variant | MODIFIER | c.165-9146C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48622238 | ||||||
| chr15:48622283
|
G | T | 4 | a0001c0001t0001g0265a0001c0001t0001g0269a0001c0001t0001g0272others(1): Show | 4 | HG00544.hp2 HG01257.hp1 NA18986.hp2 others(1): Show |
intron_variant | MODIFIER | c.165-9191C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48622283 | ||||||
| chr15:48622556
|
T | G | 1 | a0001c0001t0002g0079 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.165-9464A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48622556 | ||||||
| chr15:48622578
|
T | C | 16 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(13): Show | 16 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(13): Show |
intron_variant | MODIFIER | c.165-9486A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48622578 | ||||||
| chr15:48622656
|
C | G | 3 | a0001c0002t0001g0011a0001c0002t0003g0024a0001c0004t0010g0012 | 3 | HG02818.hp2 HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.165-9564G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48622656 | ||||||
| chr15:48622729
|
A | G | 119 | a0001c0001t0001g0002a0001c0001t0001g0090a0001c0001t0001g0128others(116): Show | 119 | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(116): Show |
intron_variant | MODIFIER | c.165-9637T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48622729 | ||||||
| chr15:48622865
|
C | T | 1 | a0001c0004t0004g0017 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.165-9773G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48622865 | ||||||
| chr15:48622887
|
C | T | 2 | a0001c0001t0005g0221a0001c0001t0005g0223 | 2 | HG02056.hp2 HG02165.hp2 |
intron_variant | MODIFIER | c.165-9795G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48622887 | ||||||
| chr15:48622889
|
A | G | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.165-9797T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48622889 | ||||||
| chr15:48623135
|
T | C | 1 | a0001c0001t0001g0275 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.165-10043A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48623135 | ||||||
| chr15:48623265
|
G | A | 2 | a0001c0001t0001g0272a0001c0021t0001g0218 | 2 | HG01257.hp1 NA18999.hp1 |
intron_variant | MODIFIER | c.165-10173C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48623265 | ||||||
| chr15:48623353
|
G | A | 41 | a0001c0001t0001g0090a0001c0001t0001g0132a0001c0001t0001g0176others(38): Show | 41 | HG00408.hp1 HG01255.hp1 HG02257.hp2 others(38): Show |
intron_variant | MODIFIER | c.165-10261C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48623353 | ||||||
| chr15:48623687
|
T | C | 115 | a0001c0001t0001g0002a0001c0001t0001g0090a0001c0001t0001g0128others(112): Show | 115 | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(112): Show |
intron_variant | MODIFIER | c.165-10595A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48623687 | ||||||
| chr15:48623778
|
A | G | 2 | a0001c0001t0001g0111a0001c0001t0024g0112 | 2 | HG02155.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.165-10686T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48623778 | ||||||
| chr15:48623968
|
A | AAC | 121 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0191others(118): Show | 121 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(118): Show |
intron_variant | MODIFIER | c.165-10878_165-1087 others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48623968 | ||||||
| chr15:48623968
|
A | AACAC | 17 | a0001c0001t0001g0002a0001c0001t0001g0266a0001c0001t0005g0136others(14): Show | 17 | HG00642.hp1 HG01167.hp2 HG02080.hp1 others(14): Show |
intron_variant | MODIFIER | c.165-10880_165-1087 others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48623968 | ||||||
| chr15:48623968
|
A | AACACAC | 15 | a0001c0001t0002g0075a0001c0001t0002g0076a0001c0001t0002g0078others(12): Show | 15 | HG01243.hp1 HG01884.hp1 HG01884.hp2 others(12): Show |
intron_variant | MODIFIER | c.165-10882_165-1087 others(10): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48623968 | ||||||
| chr15:48623968
|
A | AACACACA others(1): Show |
5 | a0001c0001t0002g0071a0001c0001t0002g0074a0001c0001t0002g0077others(2): Show | 5 | HG00642.hp2 HG02293.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.165-10884_165-1087 others(12): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48623968 | ||||||
| chr15:48623968
|
A | AACACACA others(3): Show |
5 | a0001c0001t0002g0072a0001c0001t0002g0073a0001c0001t0002g0079others(2): Show | 5 | HG01361.hp1 HG01517.hp2 HG01981.hp1 others(2): Show |
intron_variant | MODIFIER | c.165-10886_165-1087 others(14): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48623968 | ||||||
| chr15:48623968
|
A | AACACACA others(5): Show |
1 | a0001c0001t0002g0003 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.165-10888_165-1087 others(16): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48623968 | ||||||
| chr15:48623968
|
A | C | 2 | a0001c0001t0001g0096a0001c0001t0001g0108 | 2 | HG03490.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.165-10876T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48623968 | ||||||
| chr15:48623968
|
AAC | A | 41 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0092others(38): Show | 41 | HG00621.hp2 HG00673.hp2 HG01123.hp1 others(38): Show |
intron_variant | MODIFIER | c.165-10878_165-1087 others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48623968 | ||||||
| chr15:48623994
|
C | T | 35 | a0001c0001t0001g0172a0002c0003t0001g0162a0002c0003t0002g0145others(32): Show | 35 | HG00597.hp1 HG00621.hp1 HG01346.hp2 others(32): Show |
intron_variant | MODIFIER | c.165-10902G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48623994 | ||||||
| chr15:48623997
|
G | T | 83 | a0001c0001t0001g0002a0001c0001t0001g0090a0001c0001t0001g0128others(80): Show | 83 | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(80): Show |
intron_variant | MODIFIER | c.165-10905C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48623997 | ||||||
| chr15:48624216
|
A | T | 3 | a0001c0001t0001g0254a0001c0001t0001g0255a0001c0001t0001g0256 | 3 | HG02135.hp1 NA18975.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.165-11124T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48624216 | ||||||
| chr15:48624229
|
T | C | 1 | a0001c0002t0001g0020 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.165-11137A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48624229 | ||||||
| chr15:48624438
|
G | A | 1 | a0001c0002t0018g0253 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.165-11346C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48624438 | ||||||
| chr15:48624474
|
A | C | 4 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(1): Show | 4 | HG02723.hp2 HG02886.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.165-11382T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48624474 | ||||||
| chr15:48624596
|
A | C | 1 | a0001c0002t0003g0027 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.165-11504T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48624596 | ||||||
| chr15:48624667
|
C | T | 1 | a0001c0001t0002g0091 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.165-11575G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48624667 | ||||||
| chr15:48624757
|
T | C | 4 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0279others(1): Show | 4 | HG02630.hp2 HG02717.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.165-11665A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48624757 | ||||||
| chr15:48624780
|
A | G | 1 | a0001c0001t0001g0092 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.165-11688T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48624780 | ||||||
| chr15:48624941
|
G | A | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.165-11849C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48624941 | ||||||
| chr15:48624973
|
G | A | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.165-11881C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48624973 | ||||||
| chr15:48625008
|
A | G | 1 | a0001c0001t0001g0176 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.165-11916T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48625008 | ||||||
| chr15:48625013
|
C | G | 2 | a0001c0001t0001g0128a0010c0020t0001g0129 | 2 | HG02717.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.165-11921G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48625013 | ||||||
| chr15:48625089
|
A | C | 5 | a0001c0001t0010g0018a0001c0002t0001g0011a0001c0004t0010g0012others(2): Show | 5 | HG01884.hp1 HG02451.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.165-11997T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48625089 | ||||||
| chr15:48625369
|
T | C | 1 | a0001c0002t0017g0040 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.165-12277A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48625369 | ||||||
| chr15:48625480
|
C | T | 5 | a0001c0001t0005g0141a0001c0001t0011g0007a0001c0001t0011g0008others(2): Show | 5 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.165-12388G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48625480 | ||||||
| chr15:48625521
|
C | G | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.165-12429G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48625521 | ||||||
| chr15:48625729
|
C | T | 1 | a0009c0014t0001g0227 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.165-12637G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48625729 | ||||||
| chr15:48625779
|
C | T | 1 | a0001c0001t0001g0242 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.165-12687G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48625779 | ||||||
| chr15:48625834
|
G | GT | 14 | a0001c0001t0001g0100a0001c0001t0001g0130a0001c0001t0001g0131others(11): Show | 14 | HG00597.hp2 HG02293.hp2 HG02451.hp2 others(11): Show |
intron_variant | MODIFIER | c.165-12743dupA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48625834 | ||||||
| chr15:48625841
|
T | G | 1 | a0001c0002t0001g0020 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.165-12749A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48625841 | ||||||
| chr15:48625851
|
A | G | 88 | a0001c0001t0001g0002a0001c0001t0001g0090a0001c0001t0001g0128others(85): Show | 88 | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(85): Show |
intron_variant | MODIFIER | c.165-12759T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48625851 | ||||||
| chr15:48626003
|
T | C | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.165-12911A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48626003 | ||||||
| chr15:48626081
|
A | C | 99 | a0001c0001t0001g0002a0001c0001t0001g0090a0001c0001t0001g0128others(96): Show | 99 | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(96): Show |
intron_variant | MODIFIER | c.165-12989T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48626081 | ||||||
| chr15:48626144
|
G | A | 1 | a0001c0005t0013g0199 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.165-13052C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48626144 | ||||||
| chr15:48626162
|
T | A | 1 | a0001c0005t0013g0199 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.165-13070A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48626162 | ||||||
| chr15:48626209
|
A | G | 16 | a0001c0001t0001g0090a0001c0001t0001g0132a0001c0001t0001g0176others(13): Show | 16 | HG00408.hp1 HG02602.hp1 HG03239.hp2 others(13): Show |
intron_variant | MODIFIER | c.165-13117T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48626209 | ||||||
| chr15:48626256
|
C | CA | 12 | a0001c0001t0010g0018a0001c0002t0001g0283a0001c0002t0002g0125others(9): Show | 12 | HG01884.hp1 HG02257.hp2 HG02280.hp2 others(9): Show |
intron_variant | MODIFIER | c.165-13165dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48626256 | ||||||
| chr15:48626256
|
CA | C | 53 | a0001c0001t0001g0130a0001c0001t0001g0237a0001c0001t0001g0241others(50): Show | 53 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(50): Show |
intron_variant | MODIFIER | c.165-13165delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48626256 | ||||||
| chr15:48626276
|
A | C | 4 | a0001c0002t0001g0022a0001c0002t0003g0024a0001c0002t0007g0021others(1): Show | 4 | HG02723.hp2 HG02886.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.165-13184T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48626276 | ||||||
| chr15:48626415
|
T | C | 4 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0279others(1): Show | 4 | HG02630.hp2 HG02717.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.165-13323A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48626415 | ||||||
| chr15:48626579
|
A | G | 88 | a0001c0001t0001g0002a0001c0001t0001g0090a0001c0001t0001g0128others(85): Show | 88 | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(85): Show |
intron_variant | MODIFIER | c.165-13487T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48626579 | ||||||
| chr15:48626624
|
G | C | 11 | a0001c0001t0001g0001a0001c0001t0001g0254a0001c0001t0001g0255others(8): Show | 11 | HG01123.hp2 HG01928.hp1 HG02080.hp1 others(8): Show |
intron_variant | MODIFIER | c.165-13532C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48626624 | ||||||
| chr15:48626669
|
G | A | 1 | a0002c0003t0005g0142 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.165-13577C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48626669 | ||||||
| chr15:48626800
|
A | G | 4 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0279others(1): Show | 4 | HG02630.hp2 HG02717.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.165-13708T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48626800 | ||||||
| chr15:48626906
|
A | C | 16 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(13): Show | 16 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(13): Show |
intron_variant | MODIFIER | c.165-13814T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48626906 | ||||||
| chr15:48626927
|
C | T | 2 | a0001c0001t0008g0121a0003c0008t0005g0122 | 2 | HG02257.hp1 HG02622.hp1 |
intron_variant | MODIFIER | c.165-13835G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48626927 | ||||||
| chr15:48626975
|
A | C | 1 | a0001c0005t0002g0202 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.165-13883T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48626975 | ||||||
| chr15:48627022
|
G | C | 41 | a0001c0001t0001g0090a0001c0001t0001g0132a0001c0001t0001g0176others(38): Show | 41 | HG00408.hp1 HG01255.hp1 HG02257.hp2 others(38): Show |
intron_variant | MODIFIER | c.165-13930C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48627022 | ||||||
| chr15:48627172
|
C | T | 1 | a0001c0001t0001g0240 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.165-14080G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48627172 | ||||||
| chr15:48627404
|
C | T | 1 | a0001c0001t0001g0275 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.165-14312G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48627404 | ||||||
| chr15:48627617
|
G | A | 2 | a0002c0009t0001g0211a0002c0009t0001g0212 | 2 | HG02809.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.165-14525C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48627617 | ||||||
| chr15:48627636
|
TA | T | 52 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(49): Show | 52 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(49): Show |
intron_variant | MODIFIER | c.165-14545delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48627636 | ||||||
| chr15:48627848
|
T | C | 4 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0279others(1): Show | 4 | HG02630.hp2 HG02717.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.165-14756A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48627848 | ||||||
| chr15:48627963
|
C | T | 1 | a0001c0001t0001g0183 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.165-14871G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48627963 | ||||||
| chr15:48627988
|
T | C | 1 | a0001c0001t0020g0070 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.165-14896A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48627988 | ||||||
| chr15:48628146
|
T | C | 37 | a0001c0001t0001g0172a0001c0002t0001g0051a0002c0003t0001g0162others(34): Show | 37 | HG00597.hp1 HG00621.hp1 HG01346.hp2 others(34): Show |
intron_variant | MODIFIER | c.165-15054A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48628146 | ||||||
| chr15:48628300
|
GA | G | 7 | a0001c0001t0001g0117a0001c0001t0001g0132a0001c0002t0001g0022others(4): Show | 7 | HG02451.hp1 HG02723.hp2 HG03195.hp2 others(4): Show |
intron_variant | MODIFIER | c.165-15209delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48628300 | ||||||
| chr15:48628303
|
A | G | 1 | a0001c0001t0001g0190 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.165-15211T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48628303 | ||||||
| chr15:48628401
|
C | T | 51 | a0001c0002t0003g0025a0001c0002t0003g0026a0001c0002t0003g0027others(48): Show | 51 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(48): Show |
intron_variant | MODIFIER | c.165-15309G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48628401 | ||||||
| chr15:48628419
|
T | G | 1 | a0001c0001t0001g0217 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.165-15327A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48628419 | ||||||
| chr15:48628521
|
G | A | 1 | a0001c0001t0001g0259 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.165-15429C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48628521 | ||||||
| chr15:48628745
|
T | C | 89 | a0001c0001t0001g0002a0001c0001t0001g0090a0001c0001t0001g0128others(86): Show | 89 | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(86): Show |
intron_variant | MODIFIER | c.165-15653A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48628745 | ||||||
| chr15:48628860
|
T | C | 37 | a0001c0001t0001g0172a0001c0002t0001g0051a0002c0003t0001g0162others(34): Show | 37 | HG00597.hp1 HG00621.hp1 HG01346.hp2 others(34): Show |
intron_variant | MODIFIER | c.164+15746A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48628860 | ||||||
| chr15:48628974
|
G | T | 1 | a0001c0002t0008g0285 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.164+15632C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48628974 | ||||||
| chr15:48629359
|
AG | A | 4 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0279others(1): Show | 4 | HG02630.hp2 HG02717.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.164+15246delC | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48629359 | ||||||
| chr15:48629477
|
A | G | 1 | a0001c0001t0002g0071 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.164+15129T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48629477 | ||||||
| chr15:48629495
|
T | C | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.164+15111A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48629495 | ||||||
| chr15:48629499
|
C | A | 3 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135 | 3 | HG02451.hp2 HG02486.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.164+15107G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48629499 | ||||||
| chr15:48629852
|
T | C | 89 | a0001c0001t0001g0002a0001c0001t0001g0090a0001c0001t0001g0128others(86): Show | 89 | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(86): Show |
intron_variant | MODIFIER | c.164+14754A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48629852 | ||||||
| chr15:48629858
|
AC | A | 4 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0279others(1): Show | 4 | HG02630.hp2 HG02717.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.164+14747delG | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48629858 | ||||||
| chr15:48630032
|
C | T | 9 | a0001c0001t0010g0225a0001c0004t0004g0017a0001c0006t0014g0004others(6): Show | 9 | HG01884.hp2 HG02258.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.164+14574G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48630032 | ||||||
| chr15:48630163
|
C | T | 16 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(13): Show | 16 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(13): Show |
intron_variant | MODIFIER | c.164+14443G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48630163 | ||||||
| chr15:48630164
|
A | C | 51 | a0001c0001t0001g0002a0001c0001t0001g0090a0001c0001t0001g0128others(48): Show | 51 | HG00408.hp1 HG01255.hp1 HG02257.hp2 others(48): Show |
intron_variant | MODIFIER | c.164+14442T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48630164 | ||||||
| chr15:48630192
|
TA | T | 9 | a0001c0001t0010g0225a0001c0004t0004g0017a0001c0006t0014g0004others(6): Show | 9 | HG01884.hp2 HG02258.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.164+14413delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48630192 | ||||||
| chr15:48630512
|
T | C | 3 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135 | 3 | HG02451.hp2 HG02486.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.164+14094A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48630512 | ||||||
| chr15:48630627
|
T | G | 1 | a0001c0001t0001g0220 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.164+13979A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48630627 | ||||||
| chr15:48630731
|
C | CA | 182 | a0001c0001t0001g0001a0001c0001t0001g0088a0001c0001t0001g0089others(179): Show | 182 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(179): Show |
intron_variant | MODIFIER | c.164+13874dupT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48630731 | ||||||
| chr15:48630731
|
C | CAA | 6 | a0001c0001t0001g0019a0001c0001t0001g0107a0001c0001t0001g0220others(3): Show | 6 | HG02523.hp1 HG03669.hp2 HG04115.hp2 others(3): Show |
intron_variant | MODIFIER | c.164+13873_164+1387 others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48630731 | ||||||
| chr15:48630731
|
CA | C | 11 | a0001c0001t0002g0003a0001c0001t0010g0225a0001c0004t0004g0017others(8): Show | 11 | HG02258.hp1 HG02896.hp1 HG02897.hp1 others(8): Show |
intron_variant | MODIFIER | c.164+13874delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48630731 | ||||||
| chr15:48630746
|
A | AG | 11 | a0001c0001t0002g0091a0001c0001t0005g0136a0001c0001t0008g0121others(8): Show | 11 | HG01243.hp1 HG02257.hp1 HG02258.hp2 others(8): Show |
intron_variant | MODIFIER | c.164+13859_164+1386 others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48630746 | ||||||
| chr15:48630746
|
A | G | 49 | a0001c0001t0001g0002a0001c0001t0001g0090a0001c0001t0001g0128others(46): Show | 49 | HG00408.hp1 HG01255.hp1 HG02257.hp2 others(46): Show |
intron_variant | MODIFIER | c.164+13860T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48630746 | ||||||
| chr15:48630873
|
T | C | 1 | a0001c0001t0015g0276 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.164+13733A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48630873 | ||||||
| chr15:48631055
|
A | G | 38 | a0001c0001t0001g0172a0001c0002t0001g0051a0001c0004t0004g0140others(35): Show | 38 | HG00408.hp2 HG00597.hp1 HG00621.hp1 others(35): Show |
intron_variant | MODIFIER | c.164+13551T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48631055 | ||||||
| chr15:48631234
|
GAACA | G | 4 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0279others(1): Show | 4 | HG02630.hp2 HG02717.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.164+13368_164+1337 others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48631234 | ||||||
| chr15:48631305
|
C | T | 1 | a0001c0001t0005g0141 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.164+13301G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48631305 | ||||||
| chr15:48631465
|
T | C | 2 | a0001c0001t0002g0214a0001c0006t0013g0215 | 2 | HG03209.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.164+13141A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48631465 | ||||||
| chr15:48631608
|
C | G | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.164+12998G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48631608 | ||||||
| chr15:48631628
|
G | T | 37 | a0001c0001t0001g0172a0001c0004t0004g0140a0002c0003t0001g0162others(34): Show | 37 | HG00408.hp2 HG00597.hp1 HG00621.hp1 others(34): Show |
intron_variant | MODIFIER | c.164+12978C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48631628 | ||||||
| chr15:48631658
|
C | T | 6 | a0001c0004t0004g0017a0001c0006t0014g0004a0001c0007t0002g0013others(3): Show | 6 | HG01884.hp2 HG02258.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.164+12948G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48631658 | ||||||
| chr15:48631666
|
G | A | 1 | a0001c0001t0001g0237 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.164+12940C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48631666 | ||||||
| chr15:48631687
|
A | C | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.164+12919T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48631687 | ||||||
| chr15:48631823
|
C | T | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.164+12783G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48631823 | ||||||
| chr15:48631827
|
C | T | 12 | a0001c0001t0002g0214a0001c0001t0005g0141a0001c0001t0010g0225others(9): Show | 12 | HG01884.hp2 HG02258.hp1 HG02896.hp1 others(9): Show |
intron_variant | MODIFIER | c.164+12779G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48631827 | ||||||
| chr15:48631989
|
C | T | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.164+12617G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48631989 | ||||||
| chr15:48632140
|
G | T | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.164+12466C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48632140 | ||||||
| chr15:48632171
|
T | C | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.164+12435A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48632171 | ||||||
| chr15:48632271
|
G | A | 42 | a0001c0001t0001g0090a0001c0001t0001g0132a0001c0001t0001g0176others(39): Show | 42 | HG00408.hp1 HG01255.hp1 HG02257.hp2 others(39): Show |
intron_variant | MODIFIER | c.164+12335C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48632271 | ||||||
| chr15:48632539
|
C | T | 3 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135 | 3 | HG02451.hp2 HG02486.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.164+12067G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48632539 | ||||||
| chr15:48632647
|
C | T | 3 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135 | 3 | HG02451.hp2 HG02486.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.164+11959G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48632647 | ||||||
| chr15:48632785
|
T | C | 9 | a0001c0001t0005g0136a0001c0001t0005g0280a0001c0001t0008g0121others(6): Show | 9 | HG01243.hp1 HG02257.hp1 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.164+11821A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48632785 | ||||||
| chr15:48632818
|
G | C | 1 | a0001c0001t0001g0131 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.164+11788C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48632818 | ||||||
| chr15:48632852
|
C | G | 1 | a0001c0002t0002g0284 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.164+11754G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48632852 | ||||||
| chr15:48632918
|
G | C | 38 | a0001c0001t0001g0172a0001c0002t0001g0051a0001c0004t0004g0140others(35): Show | 38 | HG00408.hp2 HG00597.hp1 HG00621.hp1 others(35): Show |
intron_variant | MODIFIER | c.164+11688C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48632918 | ||||||
| chr15:48632942
|
G | A | 1 | a0001c0002t0003g0046 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.164+11664C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48632942 | ||||||
| chr15:48633060
|
G | A | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.164+11546C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48633060 | ||||||
| chr15:48633270
|
A | G | 1 | a0001c0001t0001g0238 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.164+11336T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48633270 | ||||||
| chr15:48633462
|
G | A | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.164+11144C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48633462 | ||||||
| chr15:48633536
|
T | C | 19 | a0001c0002t0001g0124a0001c0002t0001g0283a0001c0002t0002g0084others(16): Show | 19 | HG01255.hp1 HG02257.hp2 HG02280.hp2 others(16): Show |
intron_variant | MODIFIER | c.164+11070A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48633536 | ||||||
| chr15:48633605
|
C | T | 6 | a0001c0001t0001g0096a0001c0001t0001g0098a0001c0001t0001g0099others(3): Show | 6 | HG01123.hp1 HG01192.hp2 HG01257.hp2 others(3): Show |
intron_variant | MODIFIER | c.164+11001G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48633605 | ||||||
| chr15:48633678
|
G | A | 4 | a0001c0001t0001g0095a0001c0001t0001g0108a0001c0001t0001g0116others(1): Show | 4 | HG03688.hp2 HG03704.hp1 HG04228.hp2 others(1): Show |
intron_variant | MODIFIER | c.164+10928C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48633678 | ||||||
| chr15:48633690
|
T | G | 9 | a0001c0001t0010g0225a0001c0004t0004g0017a0001c0006t0014g0004others(6): Show | 9 | HG01884.hp2 HG02258.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.164+10916A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48633690 | ||||||
| chr15:48633805
|
G | A | 183 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0132others(180): Show | 183 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(180): Show |
intron_variant | MODIFIER | c.164+10801C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48633805 | ||||||
| chr15:48633891
|
C | T | 1 | a0001c0015t0001g0219 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.164+10715G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48633891 | ||||||
| chr15:48633996
|
T | C | 1 | a0001c0002t0001g0011 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.164+10610A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48633996 | ||||||
| chr15:48634005
|
T | C | 15 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(12): Show | 15 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(12): Show |
intron_variant | MODIFIER | c.164+10601A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634005 | ||||||
| chr15:48634101
|
T | C | 1 | a0001c0002t0002g0005 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.164+10505A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634101 | ||||||
| chr15:48634218
|
G | A | 104 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0088others(101): Show | 104 | HG00099.hp2 HG00544.hp2 HG00597.hp2 others(101): Show |
intron_variant | MODIFIER | c.164+10388C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634218 | ||||||
| chr15:48634351
|
C | T | 1 | a0001c0005t0001g0198 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.164+10255G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634351 | ||||||
| chr15:48634400
|
G | A | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.164+10206C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634400 | ||||||
| chr15:48634410
|
G | A | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.164+10196C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634410 | ||||||
| chr15:48634838
|
CA | C | 16 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(13): Show | 16 | HG00642.hp2 HG01361.hp1 HG01517.hp2 others(13): Show |
intron_variant | MODIFIER | c.164+9767delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634838 | ||||||
| chr15:48634838
|
CAA | C | 9 | a0001c0001t0010g0225a0001c0004t0004g0017a0001c0006t0014g0004others(6): Show | 9 | HG01884.hp2 HG02258.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.164+9766_164+9767d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634838 | ||||||
| chr15:48634854
|
AAACCACA others(3): Show |
A | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.164+9742_164+9751d others(12): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634854 | ||||||
| chr15:48634856
|
A | C | 1 | a0001c0015t0001g0219 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.164+9750T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634856 | ||||||
| chr15:48634856
|
ACCACAC | A | 3 | a0001c0001t0001g0002a0001c0001t0001g0128a0010c0020t0001g0129 | 3 | HG02717.hp1 HG03471.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.164+9744_164+9749d others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634856 | ||||||
| chr15:48634857
|
C | A | 54 | a0001c0001t0001g0132a0001c0001t0001g0172a0001c0001t0001g0176others(51): Show | 54 | HG00408.hp1 HG00621.hp1 HG01243.hp1 others(51): Show |
intron_variant | MODIFIER | c.164+9749G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634857 | ||||||
| chr15:48634857
|
C | CCA | 18 | a0001c0001t0001g0260a0001c0001t0001g0262a0001c0001t0001g0263others(15): Show | 18 | HG00544.hp2 HG01167.hp2 HG01243.hp2 others(15): Show |
intron_variant | MODIFIER | c.164+9747_164+9748d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634857 | ||||||
| chr15:48634857
|
C | CCACA | 8 | a0001c0001t0001g0269a0001c0001t0001g0270a0001c0001t0001g0271others(5): Show | 8 | HG00642.hp2 HG02735.hp1 HG02738.hp2 others(5): Show |
intron_variant | MODIFIER | c.164+9745_164+9748d others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634857 | ||||||
| chr15:48634857
|
C | CCACACA | 3 | a0001c0001t0001g0272a0001c0001t0009g0273a0001c0001t0009g0274 | 3 | NA18999.hp1 NA19012.hp1 NA19080.hp1 |
intron_variant | MODIFIER | c.164+9743_164+9748d others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634857 | ||||||
| chr15:48634857
|
CCA | C | 30 | a0001c0001t0001g0110a0001c0001t0001g0111a0001c0001t0001g0116others(27): Show | 30 | HG00597.hp2 HG00673.hp1 HG01167.hp1 others(27): Show |
intron_variant | MODIFIER | c.164+9747_164+9748d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634857 | ||||||
| chr15:48634857
|
CCACA | C | 69 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0090others(66): Show | 69 | HG00099.hp1 HG00621.hp2 HG00642.hp1 others(66): Show |
intron_variant | MODIFIER | c.164+9745_164+9748d others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634857 | ||||||
| chr15:48634857
|
CCACACA | C | 3 | a0001c0001t0001g0095a0001c0002t0002g0085a0001c0002t0003g0024 | 3 | HG02886.hp1 HG03486.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.164+9743_164+9748d others(8): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634857 | ||||||
| chr15:48634857
|
CCACACAC others(1): Show |
C | 12 | a0001c0001t0001g0092a0001c0001t0001g0093a0001c0001t0001g0094others(9): Show | 12 | HG00597.hp1 HG00673.hp2 NA18747.hp2 others(9): Show |
intron_variant | MODIFIER | c.164+9741_164+9748d others(10): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634857 | ||||||
| chr15:48634857
|
CCACACAC others(3): Show |
C | 37 | a0001c0002t0001g0051a0001c0002t0002g0005a0001c0002t0002g0006others(34): Show | 37 | HG00408.hp2 HG00544.hp1 HG01346.hp2 others(34): Show |
intron_variant | MODIFIER | c.164+9739_164+9748d others(12): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634857 | ||||||
| chr15:48634857
|
CCACACAC others(5): Show |
C | 6 | a0001c0004t0004g0017a0001c0006t0014g0004a0001c0007t0002g0013others(3): Show | 6 | HG01884.hp2 HG02258.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.164+9737_164+9748d others(14): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634857 | ||||||
| chr15:48634857
|
CCACACAC others(7): Show |
C | 2 | a0001c0001t0010g0225a0001c0025t0008g0203 | 2 | HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.164+9735_164+9748d others(16): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634857 | ||||||
| chr15:48634858
|
C | A | 41 | a0001c0001t0001g0132a0001c0001t0001g0176a0001c0001t0001g0177others(38): Show | 41 | HG00408.hp1 HG01255.hp1 HG02257.hp2 others(38): Show |
intron_variant | MODIFIER | c.164+9748G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634858 | ||||||
| chr15:48634858
|
CACACA | C | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.164+9743_164+9747d others(7): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634858 | ||||||
| chr15:48634858
|
CACACACA others(4): Show |
C | 3 | a0001c0002t0001g0022a0001c0002t0007g0021a0001c0005t0007g0197 | 3 | HG02723.hp2 HG03209.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.164+9737_164+9747d others(13): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634858 | ||||||
| chr15:48634860
|
CA | C | 5 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0001g0185others(2): Show | 5 | HG03239.hp2 NA18959.hp1 NA18962.hp2 others(2): Show |
intron_variant | MODIFIER | c.164+9745delT | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634860 | ||||||
| chr15:48634860
|
CACACA | C | 21 | a0001c0001t0001g0132a0001c0001t0001g0178a0001c0001t0001g0180others(18): Show | 21 | HG00408.hp1 HG01255.hp1 HG02559.hp1 others(18): Show |
intron_variant | MODIFIER | c.164+9741_164+9745d others(7): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634860 | ||||||
| chr15:48634860
|
CACACACA | C | 9 | a0001c0001t0005g0141a0001c0002t0001g0283a0001c0002t0002g0125others(6): Show | 9 | HG02257.hp2 HG02280.hp2 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.164+9739_164+9745d others(9): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634860 | ||||||
| chr15:48634864
|
C | A | 3 | a0001c0001t0001g0002a0001c0001t0001g0128a0010c0020t0001g0129 | 3 | HG02717.hp1 HG03471.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.164+9742G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634864 | ||||||
| chr15:48634865
|
A | C | 6 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0010g0018others(3): Show | 6 | HG01884.hp1 HG02717.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.164+9741T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634865 | ||||||
| chr15:48634866
|
C | A | 2 | a0001c0001t0001g0279a0005c0016t0011g0123 | 2 | HG02451.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.164+9740G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634866 | ||||||
| chr15:48634867
|
A | C | 2 | a0001c0001t0001g0279a0005c0016t0011g0123 | 2 | HG02451.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.164+9739T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634867 | ||||||
| chr15:48634902
|
C | A | 1 | a0002c0003t0005g0174 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.164+9704G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634902 | ||||||
| chr15:48634916
|
G | C | 41 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0090others(38): Show | 41 | HG00621.hp2 HG00673.hp2 HG01123.hp1 others(38): Show |
intron_variant | MODIFIER | c.164+9690C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48634916 | ||||||
| chr15:48635237
|
T | C | 3 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0119 | 3 | NA18947.hp1 NA18956.hp2 NA19007.hp1 |
intron_variant | MODIFIER | c.164+9369A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48635237 | ||||||
| chr15:48635472
|
A | G | 1 | a0001c0001t0002g0091 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.164+9134T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48635472 | ||||||
| chr15:48635592
|
G | A | 6 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085others(3): Show | 6 | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.164+9014C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48635592 | ||||||
| chr15:48635732
|
A | C | 3 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135 | 3 | HG02451.hp2 HG02486.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.164+8874T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48635732 | ||||||
| chr15:48635739
|
A | T | 3 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135 | 3 | HG02451.hp2 HG02486.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.164+8867T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48635739 | ||||||
| chr15:48636143
|
T | C | 49 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0132others(46): Show | 49 | HG00408.hp1 HG01255.hp1 HG02257.hp2 others(46): Show |
intron_variant | MODIFIER | c.164+8463A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48636143 | ||||||
| chr15:48636181
|
A | G | 41 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0090others(38): Show | 41 | HG00621.hp2 HG00673.hp2 HG01123.hp1 others(38): Show |
intron_variant | MODIFIER | c.164+8425T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48636181 | ||||||
| chr15:48636336
|
G | T | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.164+8270C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48636336 | ||||||
| chr15:48636347
|
T | C | 2 | a0001c0002t0001g0022a0001c0002t0007g0021 | 2 | HG03209.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.164+8259A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48636347 | ||||||
| chr15:48636349
|
G | A | 2 | a0001c0002t0002g0084a0001c0005t0002g0202 | 2 | HG02886.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.164+8257C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48636349 | ||||||
| chr15:48636397
|
C | T | 1 | a0001c0001t0001g0226 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.164+8209G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48636397 | ||||||
| chr15:48636455
|
T | C | 50 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0132others(47): Show | 50 | HG00408.hp1 HG01255.hp1 HG01884.hp1 others(47): Show |
intron_variant | MODIFIER | c.164+8151A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48636455 | ||||||
| chr15:48636478
|
G | C | 1 | a0001c0015t0001g0219 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.164+8128C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48636478 | ||||||
| chr15:48636479
|
A | T | 1 | a0001c0015t0001g0219 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.164+8127T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48636479 | ||||||
| chr15:48636598
|
C | G | 59 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0132others(56): Show | 59 | HG00408.hp1 HG01255.hp1 HG01884.hp1 others(56): Show |
intron_variant | MODIFIER | c.164+8008G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48636598 | ||||||
| chr15:48636716
|
C | T | 3 | a0001c0001t0001g0176a0001c0001t0001g0177a0001c0001t0001g0188 | 3 | HG02602.hp1 HG03239.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.164+7890G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48636716 | ||||||
| chr15:48636717
|
G | A | 1 | a0001c0001t0001g0120 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.164+7889C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48636717 | ||||||
| chr15:48636795
|
C | T | 4 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0090others(1): Show | 4 | NA18945.hp1 NA18946.hp1 NA18994.hp2 others(1): Show |
intron_variant | MODIFIER | c.164+7811G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48636795 | ||||||
| chr15:48637016
|
A | G | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.164+7590T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48637016 | ||||||
| chr15:48637283
|
G | A | 1 | a0001c0001t0001g0188 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.164+7323C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48637283 | ||||||
| chr15:48637529
|
G | A | 2 | a0001c0002t0001g0011a0001c0004t0010g0012 | 2 | HG02818.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.164+7077C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48637529 | ||||||
| chr15:48637575
|
G | A | 1 | a0001c0004t0004g0017 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.164+7031C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48637575 | ||||||
| chr15:48637705
|
T | C | 1 | a0001c0001t0001g0275 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.164+6901A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48637705 | ||||||
| chr15:48637818
|
C | T | 1 | a0001c0005t0003g0204 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.164+6788G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48637818 | ||||||
| chr15:48637963
|
C | A | 3 | a0001c0002t0001g0011a0001c0002t0003g0024a0001c0004t0010g0012 | 3 | HG02818.hp2 HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.164+6643G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48637963 | ||||||
| chr15:48638037
|
C | CT | 64 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0279others(61): Show | 64 | HG00642.hp2 HG01175.hp2 HG01243.hp1 others(61): Show |
intron_variant | MODIFIER | c.164+6568dupA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48638037 | ||||||
| chr15:48638037
|
C | CTT | 10 | a0001c0001t0002g0214a0001c0001t0010g0225a0001c0004t0004g0017others(7): Show | 10 | HG01884.hp2 HG02258.hp1 HG02896.hp1 others(7): Show |
intron_variant | MODIFIER | c.164+6567_164+6568d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48638037 | ||||||
| chr15:48638074
|
G | A | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.164+6532C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48638074 | ||||||
| chr15:48638130
|
G | T | 3 | a0001c0002t0001g0011a0001c0002t0003g0024a0001c0004t0010g0012 | 3 | HG02818.hp2 HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.164+6476C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48638130 | ||||||
| chr15:48638204
|
T | C | 1 | a0001c0001t0002g0079 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.164+6402A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48638204 | ||||||
| chr15:48638208
|
CTT | C | 9 | a0001c0001t0010g0225a0001c0004t0004g0017a0001c0006t0014g0004others(6): Show | 9 | HG01884.hp2 HG02258.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.164+6396_164+6397d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48638208 | ||||||
| chr15:48638288
|
T | A | 1 | a0002c0003t0005g0175 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.164+6318A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48638288 | ||||||
| chr15:48638448
|
T | C | 85 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0132others(82): Show | 85 | HG00408.hp1 HG00642.hp2 HG01255.hp1 others(82): Show |
intron_variant | MODIFIER | c.164+6158A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48638448 | ||||||
| chr15:48638617
|
CT | C | 223 | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0088others(220): Show | 223 | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(220): Show |
intron_variant | MODIFIER | c.164+5988delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48638617 | ||||||
| chr15:48638665
|
T | C | 3 | a0001c0002t0008g0133a0001c0002t0008g0134a0001c0002t0008g0135 | 3 | HG02451.hp2 HG02486.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.164+5941A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48638665 | ||||||
| chr15:48638674
|
G | C | 62 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0132others(59): Show | 62 | HG00408.hp1 HG01255.hp1 HG01884.hp1 others(59): Show |
intron_variant | MODIFIER | c.164+5932C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48638674 | ||||||
| chr15:48638716
|
A | T | 3 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085 | 3 | HG03098.hp1 HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.164+5890T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48638716 | ||||||
| chr15:48638720
|
A | T | 3 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085 | 3 | HG03098.hp1 HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.164+5886T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48638720 | ||||||
| chr15:48638721
|
A | ATTT | 3 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085 | 3 | HG03098.hp1 HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.164+5884_164+5885i others(5): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48638721 | ||||||
| chr15:48638860
|
T | A | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.164+5746A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48638860 | ||||||
| chr15:48638955
|
G | A | 1 | a0001c0001t0005g0141 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.164+5651C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48638955 | ||||||
| chr15:48639017
|
C | T | 36 | a0001c0001t0001g0172a0002c0003t0001g0162a0002c0003t0002g0145others(33): Show | 36 | HG00597.hp1 HG00621.hp1 HG01346.hp2 others(33): Show |
intron_variant | MODIFIER | c.164+5589G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48639017 | ||||||
| chr15:48639122
|
T | G | 1 | a0003c0008t0005g0122 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.164+5484A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48639122 | ||||||
| chr15:48639247
|
A | C | 1 | a0001c0005t0014g0196 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.164+5359T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48639247 | ||||||
| chr15:48639254
|
T | C | 140 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0132others(137): Show | 140 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(137): Show |
intron_variant | MODIFIER | c.164+5352A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48639254 | ||||||
| chr15:48639319
|
T | C | 25 | a0001c0002t0001g0051a0001c0004t0004g0048a0001c0004t0004g0049others(22): Show | 25 | HG00408.hp2 HG00544.hp1 HG02155.hp2 others(22): Show |
intron_variant | MODIFIER | c.164+5287A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48639319 | ||||||
| chr15:48639326
|
C | T | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.164+5280G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48639326 | ||||||
| chr15:48639369
|
T | C | 59 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0132others(56): Show | 59 | HG00408.hp1 HG01255.hp1 HG01884.hp1 others(56): Show |
intron_variant | MODIFIER | c.164+5237A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48639369 | ||||||
| chr15:48639521
|
C | T | 3 | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0085 | 3 | HG03098.hp1 HG03486.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.164+5085G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48639521 | ||||||
| chr15:48639622
|
T | C | 3 | a0001c0002t0001g0011a0001c0002t0003g0024a0001c0004t0010g0012 | 3 | HG02818.hp2 HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.164+4984A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48639622 | ||||||
| chr15:48639695
|
C | A | 1 | a0005c0016t0011g0123 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.164+4911G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48639695 | ||||||
| chr15:48639737
|
T | C | 4 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0279others(1): Show | 4 | HG02630.hp2 HG02717.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.164+4869A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48639737 | ||||||
| chr15:48639770
|
T | A | 4 | a0001c0001t0005g0136a0001c0001t0005g0280a0001c0001t0008g0121others(1): Show | 4 | HG02257.hp1 HG02572.hp2 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.164+4836A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48639770 | ||||||
| chr15:48639967
|
A | C | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.164+4639T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48639967 | ||||||
| chr15:48640054
|
C | T | 2 | a0001c0001t0002g0214a0001c0006t0013g0215 | 2 | HG03209.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.164+4552G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48640054 | ||||||
| chr15:48640067
|
T | C | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.164+4539A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48640067 | ||||||
| chr15:48640314
|
T | C | 1 | a0001c0001t0015g0276 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.164+4292A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48640314 | ||||||
| chr15:48640331
|
A | G | 9 | a0001c0001t0010g0225a0001c0004t0004g0017a0001c0006t0014g0004others(6): Show | 9 | HG01884.hp2 HG02258.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.164+4275T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48640331 | ||||||
| chr15:48640499
|
T | A | 1 | a0001c0025t0008g0203 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.164+4107A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48640499 | ||||||
| chr15:48640547
|
C | A | 1 | a0002c0003t0002g0189 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.164+4059G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48640547 | ||||||
| chr15:48641300
|
AT | A | 94 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0132others(91): Show | 94 | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(91): Show |
intron_variant | MODIFIER | c.164+3305delA | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48641300 | ||||||
| chr15:48641301
|
T | A | 1 | a0001c0002t0002g0006 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.164+3305A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48641301 | ||||||
| chr15:48641301
|
T | G | 4 | a0001c0002t0001g0011a0001c0002t0003g0024a0001c0004t0010g0012others(1): Show | 4 | HG02818.hp2 HG02886.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.164+3305A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48641301 | ||||||
| chr15:48641302
|
A | G | 94 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0132others(91): Show | 94 | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(91): Show |
intron_variant | MODIFIER | c.164+3304T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48641302 | ||||||
| chr15:48641362
|
C | T | 4 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0279others(1): Show | 4 | HG02630.hp2 HG02717.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.164+3244G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48641362 | ||||||
| chr15:48641502
|
A | G | 1 | a0001c0001t0005g0280 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.164+3104T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48641502 | ||||||
| chr15:48641624
|
C | G | 56 | a0001c0002t0001g0011a0001c0002t0001g0020a0001c0002t0001g0022others(53): Show | 56 | HG00099.hp1 HG00544.hp1 HG00642.hp1 others(53): Show |
intron_variant | MODIFIER | c.164+2982G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48641624 | ||||||
| chr15:48641780
|
T | C | 4 | a0001c0005t0003g0204a0001c0005t0007g0205a0001c0005t0007g0206others(1): Show | 4 | HG02717.hp2 HG02976.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.164+2826A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48641780 | ||||||
| chr15:48641801
|
T | G | 1 | a0001c0005t0007g0207 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.164+2805A>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48641801 | ||||||
| chr15:48642086
|
T | C | 1 | a0001c0001t0001g0191 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.164+2520A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48642086 | ||||||
| chr15:48642236
|
G | A | 1 | a0001c0002t0003g0082 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.164+2370C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48642236 | ||||||
| chr15:48642295
|
C | A | 2 | a0001c0001t0001g0277a0001c0001t0001g0278 | 2 | HG02976.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.164+2311G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48642295 | ||||||
| chr15:48642421
|
T | C | 5 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(2): Show | 5 | HG01243.hp1 HG02572.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.164+2185A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48642421 | ||||||
| chr15:48642425
|
T | C | 1 | a0001c0010t0003g0192 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.164+2181A>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48642425 | ||||||
| chr15:48642431
|
C | A | 91 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0132others(88): Show | 91 | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(88): Show |
intron_variant | MODIFIER | c.164+2175G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48642431 | ||||||
| chr15:48642504
|
TAC | T | 5 | a0001c0001t0001g0220a0001c0001t0001g0222a0001c0001t0003g0224others(2): Show | 5 | HG00673.hp1 HG02056.hp2 HG02165.hp2 others(2): Show |
intron_variant | MODIFIER | c.164+2100_164+2101d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48642504 | ||||||
| chr15:48642661
|
A | AC | 82 | a0001c0001t0002g0003a0001c0001t0002g0071a0001c0001t0002g0072others(79): Show | 82 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(79): Show |
intron_variant | MODIFIER | c.164+1944dupG | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48642661 | ||||||
| chr15:48642671
|
A | ATG | 7 | a0001c0001t0002g0003a0001c0002t0001g0020a0001c0002t0001g0022others(4): Show | 7 | HG01167.hp2 HG02886.hp1 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.164+1933_164+1934d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48642671 | ||||||
| chr15:48642671
|
A | ATGTG | 9 | a0001c0001t0002g0214a0001c0001t0005g0136a0001c0002t0002g0005others(6): Show | 9 | HG02280.hp1 HG02451.hp2 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.164+1931_164+1934d others(6): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48642671 | ||||||
| chr15:48642671
|
A | G | 1 | a0001c0021t0001g0218 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.164+1935T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48642671 | ||||||
| chr15:48642671
|
ATG | A | 3 | a0001c0001t0005g0141a0001c0005t0003g0208a0001c0005t0003g0209 | 3 | HG02965.hp2 HG03130.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.164+1933_164+1934d others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48642671 | ||||||
| chr15:48642691
|
G | GTA | 3 | a0001c0001t0001g0002a0001c0001t0001g0128a0010c0020t0001g0129 | 3 | HG02717.hp1 HG03471.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.164+1914_164+1915i others(4): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48642691 | ||||||
| chr15:48642693
|
G | A | 89 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0132others(86): Show | 89 | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(86): Show |
intron_variant | MODIFIER | c.164+1913C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48642693 | ||||||
| chr15:48642695
|
A | G | 5 | a0001c0001t0001g0019a0001c0001t0001g0217a0001c0002t0001g0011others(2): Show | 5 | HG02818.hp2 HG04228.hp1 NA19030.hp1 others(2): Show |
intron_variant | MODIFIER | c.164+1911T>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48642695 | ||||||
| chr15:48642803
|
T | A | 92 | a0001c0001t0001g0002a0001c0001t0001g0128a0001c0001t0001g0132others(89): Show | 92 | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(89): Show |
intron_variant | MODIFIER | c.164+1803A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48642803 | ||||||
| chr15:48642850
|
C | A | 1 | a0001c0005t0003g0210 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.164+1756G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48642850 | ||||||
| chr15:48642900
|
A | C | 1 | a0001c0001t0001g0132 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.164+1706T>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48642900 | ||||||
| chr15:48643138
|
G | A | 1 | a0001c0001t0010g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.164+1468C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48643138 | ||||||
| chr15:48643174
|
G | A | 2 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | HG02615.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.164+1432C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48643174 | ||||||
| chr15:48643407
|
T | A | 1 | a0001c0005t0003g0210 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.164+1199A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48643407 | ||||||
| chr15:48643412
|
T | A | 2 | a0002c0009t0001g0211a0002c0009t0001g0212 | 2 | HG02809.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.164+1194A>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48643412 | ||||||
| chr15:48643566
|
A | T | 18 | a0001c0001t0002g0003a0001c0001t0002g0214a0001c0001t0010g0018others(15): Show | 18 | HG01243.hp1 HG01884.hp1 HG01884.hp2 others(15): Show |
intron_variant | MODIFIER | c.164+1040T>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48643566 | ||||||
| chr15:48643605
|
C | T | 4 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(1): Show | 4 | HG01243.hp1 HG02922.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.164+1001G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48643605 | ||||||
| chr15:48643656
|
G | T | 60 | a0001c0001t0001g0132a0001c0001t0001g0172a0001c0001t0001g0176others(57): Show | 60 | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(57): Show |
intron_variant | MODIFIER | c.164+950C>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48643656 | ||||||
| chr15:48643661
|
G | C | 60 | a0001c0001t0001g0132a0001c0001t0001g0172a0001c0001t0001g0176others(57): Show | 60 | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(57): Show |
intron_variant | MODIFIER | c.164+945C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48643661 | ||||||
| chr15:48644093
|
C | G | 4 | a0001c0001t0002g0214a0001c0002t0002g0005a0001c0002t0002g0006others(1): Show | 4 | HG03098.hp1 HG03209.hp1 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.164+513G>C | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48644093 | ||||||
| chr15:48644352
|
C | A | 1 | a0001c0001t0001g0286 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.164+254G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | 48644352 | ||||||
| chr15:48644999
|
G | C | 2 | a0001c0001t0002g0214a0001c0006t0013g0215 | 2 | HG03209.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.-181-49C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 1/65 | chr15 | 48644999 | ||||||
| chr15:48645104
|
C | A | 1 | a0001c0001t0002g0216 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.-181-154G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 1/65 | chr15 | 48645104 | ||||||
| chr15:48645142
|
G | A | 71 | a0001c0001t0001g0001a0001c0001t0001g0217a0001c0001t0001g0220others(68): Show | 71 | HG00099.hp2 HG00544.hp2 HG00597.hp2 others(68): Show |
intron_variant | MODIFIER | c.-181-192C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 1/65 | chr15 | 48645142 | ||||||
| chr15:48645146
|
C | T | 2 | a0001c0001t0002g0003a0001c0006t0014g0004 | 2 | HG02258.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-181-196G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 1/65 | chr15 | 48645146 | ||||||
| chr15:48645169
|
G | C | 1 | a0001c0001t0001g0001 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.-181-219C>G | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 1/65 | chr15 | 48645169 | ||||||
| chr15:48645270
|
GCTCTGAA others(10): Show |
G | 1 | a0001c0001t0001g0002 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-182+288_-182+304d others(19): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 1/65 | chr15 | 48645270 | ||||||
| chr15:48645297
|
C | T | 1 | a0001c0001t0001g0001 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.-182+278G>A | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 1/65 | chr15 | 48645297 | ||||||
| chr15:48645458
|
C | A | 1 | a0001c0004t0004g0287 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.-182+117G>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 1/65 | chr15 | 48645458 | ||||||
| chr15:48645517
|
G | A | 1 | a0001c0001t0002g0288 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.-182+58C>T | FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 1/65 | chr15 | 48645517 |