Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 1287 |
| ensemblid | ENSG00000188153.14 |
| hgncid | 2207 |
| symbol | COL4A5 |
| name | collagen type IV alpha 5 chain |
| refseq_nuc | NM_033380.3 |
| refseq_prot | NP_203699.1 |
| ensembl_nuc | ENST00000328300.11 |
| ensembl_prot | ENSP00000331902.7 |
| mane_status | MANE Select |
| chr | chrX |
| start | 108439838 |
| end | 108697545 |
| strand | + |
| ver | v1.2 |
| region | chrX:108439838-108697545 |
| region5000 | chrX:108434838-108702545 |
| regionname0 | COL4A5_chrX_108439838_108697545 |
| regionname5000 | COL4A5_chrX_108434838_108702545 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 1691 | 199 | 43 | 36 | 89 | 9 | 20 | 64 | COL4A5_chrX_108434838_108702545 | COL4A5 | MKLRG others(1686): Show |
chrX | 108434838 | 108702545 |
| a0002 | 0/0 | 1691 | 53 | 26 | 2 | 23 | 0 | 2 | 18 | COL4A5_chrX_108434838_108702545 | COL4A5 | MKLRG others(1686): Show |
chrX | 108434838 | 108702545 |
| a0003 | 0/0 | 1691 | 6 | 0 | 0 | 6 | 0 | 0 | 6 | COL4A5_chrX_108434838_108702545 | COL4A5 | MKLRG others(1686): Show |
chrX | 108434838 | 108702545 |
| a0004 | 0/0 | 1691 | 3 | 0 | 0 | 3 | 0 | 0 | 3 | COL4A5_chrX_108434838_108702545 | COL4A5 | MKLRG others(1686): Show |
chrX | 108434838 | 108702545 |
| a0005 | 0/0 | 1691 | 2 | 0 | 0 | 2 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | MKLRG others(1686): Show |
chrX | 108434838 | 108702545 |
| a0006 | 0/0 | 1691 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | MKLRG others(1686): Show |
chrX | 108434838 | 108702545 |
| a0007 | 0/0 | 1691 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | MKLRG others(1686): Show |
chrX | 108434838 | 108702545 |
| a0008 | 0/0 | 1691 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | MKLRG others(1686): Show |
chrX | 108434838 | 108702545 |
| a0009 | 0/0 | 1691 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | MKLRG others(1686): Show |
chrX | 108434838 | 108702545 |
| a0010 | 0/0 | 1691 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | MKLRG others(1686): Show |
chrX | 108434838 | 108702545 |
| a0011 | 0/0 | 1691 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | MKLRG others(1686): Show |
chrX | 108434838 | 108702545 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 5073 | 186 | 32 | 35 | 88 | 9 | 20 | COL4A5_chrX_108434838_108702545 | COL4A5 | ATGAA others(5068): Show |
chrX | 108434838 | 108702545 | ||
| a0001c0003 | 0/0 | 5073 | 12 | 11 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | ATGAA others(5068): Show |
chrX | 108434838 | 108702545 | ||
| a0001c0011 | 0/0 | 5073 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | ATGAA others(5068): Show |
chrX | 108434838 | 108702545 | ||
| a0002c0002 | 0/0 | 5073 | 47 | 21 | 2 | 22 | 0 | 2 | COL4A5_chrX_108434838_108702545 | COL4A5 | ATGAA others(5068): Show |
chrX | 108434838 | 108702545 | ||
| a0002c0005 | 0/0 | 5073 | 5 | 4 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | ATGAA others(5068): Show |
chrX | 108434838 | 108702545 | ||
| a0002c0008 | 0/0 | 5073 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | ATGAA others(5068): Show |
chrX | 108434838 | 108702545 | ||
| a0003c0004 | 0/0 | 5073 | 6 | 0 | 0 | 6 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | ATGAA others(5068): Show |
chrX | 108434838 | 108702545 | ||
| a0004c0006 | 0/0 | 5073 | 3 | 0 | 0 | 3 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | ATGAA others(5068): Show |
chrX | 108434838 | 108702545 | ||
| a0005c0007 | 0/0 | 5073 | 2 | 0 | 0 | 2 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | ATGAA others(5068): Show |
chrX | 108434838 | 108702545 | ||
| a0006c0013 | 0/0 | 5073 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | ATGAA others(5068): Show |
chrX | 108434838 | 108702545 | ||
| a0007c0010 | 0/0 | 5073 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | ATGAA others(5068): Show |
chrX | 108434838 | 108702545 | ||
| a0008c0014 | 0/0 | 5073 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | ATGAA others(5068): Show |
chrX | 108434838 | 108702545 | ||
| a0009c0015 | 0/0 | 5073 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | ATGAA others(5068): Show |
chrX | 108434838 | 108702545 | ||
| a0010c0009 | 0/0 | 5073 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | ATGAA others(5068): Show |
chrX | 108434838 | 108702545 | ||
| a0011c0012 | 0/0 | 5073 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | ATGAA others(5068): Show |
chrX | 108434838 | 108702545 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 6531 | 179 | 30 | 34 | 87 | 8 | 18 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0001c0001t0004 | 0/0 | 6531 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0001c0001t0005 | 0/0 | 6531 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0001c0001t0006 | 0/0 | 6531 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0001c0001t0008 | 0/0 | 6531 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0001c0001t0009 | 0/0 | 6531 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0001c0001t0010 | 0/0 | 6531 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0001c0001t0011 | 0/0 | 6531 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0001c0003t0001 | 0/0 | 6531 | 11 | 10 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0001c0003t0007 | 0/0 | 6531 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0001c0011t0001 | 0/0 | 6531 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0002c0002t0001 | 0/0 | 6531 | 47 | 21 | 2 | 22 | 0 | 2 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0002c0005t0001 | 0/0 | 6531 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0002c0005t0002 | 0/0 | 6531 | 2 | 2 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0002c0005t0003 | 0/0 | 6531 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0002c0005t0012 | 0/0 | 6531 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0002c0008t0001 | 0/0 | 6531 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0003c0004t0001 | 0/0 | 6531 | 5 | 0 | 0 | 5 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0003c0004t0013 | 0/0 | 6531 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0004c0006t0001 | 0/0 | 6531 | 3 | 0 | 0 | 3 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0005c0007t0001 | 0/0 | 6531 | 2 | 0 | 0 | 2 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0006c0013t0001 | 0/0 | 6531 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0007c0010t0001 | 0/0 | 6531 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0008c0014t0001 | 0/0 | 6531 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0009c0015t0001 | 0/0 | 6531 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0010c0009t0001 | 0/0 | 6531 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| a0011c0012t0001 | 0/0 | 6531 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | AGATC others(6526): Show |
chrX | 108434838 | 108702545 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0004 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0136 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0208 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0213 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0235 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0236 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0238 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0242 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0248 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0259 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0260 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0261 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0262 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0263 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0264 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0001g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0004g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0005g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0006g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0008g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0009g0190 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0010g0206 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0001t0011g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0001g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0003t0007g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0001c0011t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0008 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0019 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0002t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0005t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0005t0002g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0005t0002g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0005t0003g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0005t0012g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0002c0008t0001g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0003c0004t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0003c0004t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0003c0004t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0003c0004t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0003c0004t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0003c0004t0013g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0004c0006t0001g0003 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0004c0006t0001g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0005c0007t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0005c0007t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0006c0013t0001g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0007c0010t0001g0209 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0008c0014t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0009c0015t0001g0181 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0010c0009t0001g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| a0011c0012t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0236 | EUR | GBR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00099 | hp2 | a0001 | c0001 | t0010 | g0206 | EUR | GBR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0192 | EUR | GBR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0199 | EUR | FIN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00408 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0258 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0197 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00423 | hp2 | a0001 | c0001 | t0001 | g0183 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0169 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0096 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0184 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0086 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0089 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0121 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0102 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0101 | EAS | CHS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00733 | hp1 | a0001 | c0001 | t0001 | g0146 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0053 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0242 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0182 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0260 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0111 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0195 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0112 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0194 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0124 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01081 | hp2 | a0001 | c0001 | t0001 | g0113 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0238 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01106 | hp1 | a0001 | c0003 | t0001 | g0219 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0125 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01167 | hp1 | a0001 | c0001 | t0001 | g0200 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0166 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0198 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0161 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0213 | AMR | PUR | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0262 | AMR | CLM | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0235 | AMR | CLM | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0004 | AMR | CLM | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0173 | AMR | CLM | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0261 | AMR | CLM | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01433 | hp1 | a0001 | c0001 | t0005 | g0193 | AMR | CLM | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0164 | EUR | IBS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0004 | EUR | IBS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0178 | EUR | IBS | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0165 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01884 | hp2 | a0001 | c0003 | t0001 | g0218 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0168 | AMR | PEL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0152 | AMR | PEL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0145 | AMR | PEL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0120 | AMR | PEL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0137 | AMR | PEL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01975 | hp2 | a0002 | c0002 | t0001 | g0014 | AMR | PEL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0099 | AMR | PEL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01978 | hp2 | a0002 | c0002 | t0001 | g0015 | AMR | PEL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0142 | AMR | PEL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0264 | AMR | PEL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0163 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0109 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0177 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02055 | hp1 | a0002 | c0005 | t0001 | g0071 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0051 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0040 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02080 | hp2 | a0002 | c0005 | t0003 | g0037 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02083 | hp1 | a0002 | c0002 | t0001 | g0016 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0097 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0179 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0052 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02145 | hp1 | a0001 | c0003 | t0001 | g0226 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0237 | EAS | CDX | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02155 | hp2 | a0002 | c0002 | t0001 | g0010 | EAS | CDX | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0050 | EAS | CDX | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02165 | hp2 | a0002 | c0002 | t0001 | g0029 | EAS | CDX | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0046 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02257 | hp2 | a0002 | c0002 | t0001 | g0075 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02258 | hp1 | a0001 | c0003 | t0001 | g0227 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02451 | hp1 | a0002 | c0002 | t0001 | g0073 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0133 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02523 | hp1 | a0005 | c0007 | t0001 | g0070 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0265 | EAS | KHV | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0215 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0144 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02622 | hp1 | a0002 | c0005 | t0002 | g0081 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02622 | hp2 | a0002 | c0002 | t0001 | g0066 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02630 | hp1 | a0006 | c0013 | t0001 | g0257 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0176 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02647 | hp1 | a0001 | c0003 | t0001 | g0225 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0159 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02683 | hp2 | a0001 | c0001 | t0008 | g0187 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0189 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0214 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0167 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02723 | hp2 | a0002 | c0002 | t0001 | g0035 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0259 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0153 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0203 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0131 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0127 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02818 | hp2 | a0002 | c0002 | t0001 | g0033 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02886 | hp1 | a0002 | c0002 | t0001 | g0072 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0216 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02895 | hp1 | a0001 | c0003 | t0001 | g0058 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02897 | hp1 | a0001 | c0003 | t0001 | g0057 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02897 | hp2 | a0001 | c0001 | t0004 | g0054 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02922 | hp1 | a0002 | c0002 | t0001 | g0061 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02922 | hp2 | a0002 | c0002 | t0001 | g0031 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02965 | hp1 | a0001 | c0003 | t0001 | g0221 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0253 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02970 | hp2 | a0002 | c0002 | t0001 | g0076 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0196 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0056 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0157 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0170 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03041 | hp2 | a0002 | c0002 | t0001 | g0030 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03098 | hp1 | a0002 | c0008 | t0001 | g0078 | AFR | MSL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03130 | hp1 | a0002 | c0002 | t0001 | g0034 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0254 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0082 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03195 | hp2 | a0002 | c0002 | t0001 | g0032 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0249 | AFR | MSL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03225 | hp1 | a0001 | c0003 | t0001 | g0224 | AFR | MSL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03453 | hp1 | a0002 | c0002 | t0001 | g0074 | AFR | MSL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0135 | AFR | MSL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03486 | hp1 | a0002 | c0005 | t0002 | g0001 | AFR | MSL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03486 | hp2 | a0002 | c0002 | t0001 | g0065 | AFR | MSL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03490 | hp1 | a0007 | c0010 | t0001 | g0209 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03491 | hp1 | a0002 | c0002 | t0001 | g0019 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0126 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03492 | hp1 | a0002 | c0002 | t0001 | g0008 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0174 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03516 | hp2 | a0002 | c0002 | t0001 | g0077 | AFR | ESN | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03540 | hp1 | a0002 | c0005 | t0012 | g0001 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0256 | AFR | GWD | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0245 | AFR | MSL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0106 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0083 | SAS | STU | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0162 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0207 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0263 | SAS | PJL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03927 | hp1 | a0001 | c0001 | t0009 | g0190 | SAS | BEB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0151 | SAS | BEB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0188 | SAS | BEB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0217 | SAS | STU | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG04184 | hp1 | a0008 | c0014 | t0001 | g0108 | SAS | BEB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG04184 | hp2 | a0009 | c0015 | t0001 | g0181 | SAS | BEB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0180 | SAS | STU | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0248 | SAS | STU | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG04228 | hp1 | a0010 | c0009 | t0001 | g0069 | SAS | STU | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0059 | AFR | YRI | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18612 | hp1 | a0002 | c0002 | t0001 | g0064 | EAS | CHB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0129 | EAS | CHB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0175 | AFR | YRI | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0055 | AFR | YRI | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18939 | hp1 | a0001 | c0001 | t0001 | g0250 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18939 | hp2 | a0001 | c0001 | t0001 | g0095 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18940 | hp1 | a0001 | c0001 | t0001 | g0246 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18941 | hp1 | a0002 | c0002 | t0001 | g0021 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18941 | hp2 | a0001 | c0001 | t0001 | g0243 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18942 | hp1 | a0001 | c0001 | t0001 | g0098 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18942 | hp2 | a0011 | c0012 | t0001 | g0128 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0204 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18944 | hp1 | a0002 | c0002 | t0001 | g0062 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18947 | hp1 | a0001 | c0001 | t0001 | g0123 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18947 | hp2 | a0001 | c0011 | t0001 | g0084 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0085 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18949 | hp1 | a0002 | c0002 | t0001 | g0009 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18949 | hp2 | a0003 | c0004 | t0001 | g0115 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18951 | hp1 | a0002 | c0002 | t0001 | g0007 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18951 | hp2 | a0003 | c0004 | t0001 | g0117 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0143 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18953 | hp1 | a0001 | c0001 | t0001 | g0150 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18957 | hp1 | a0001 | c0001 | t0001 | g0229 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18957 | hp2 | a0002 | c0002 | t0001 | g0012 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18959 | hp1 | a0003 | c0004 | t0013 | g0114 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18960 | hp1 | a0002 | c0002 | t0001 | g0026 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0241 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0045 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18967 | hp1 | a0002 | c0002 | t0001 | g0017 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18969 | hp1 | a0002 | c0002 | t0001 | g0025 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18969 | hp2 | a0003 | c0004 | t0001 | g0116 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0049 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0042 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18973 | hp1 | a0001 | c0001 | t0001 | g0230 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18973 | hp2 | a0001 | c0001 | t0001 | g0103 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18974 | hp1 | a0003 | c0004 | t0001 | g0119 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0140 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18979 | hp1 | a0001 | c0001 | t0001 | g0130 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18979 | hp2 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18981 | hp1 | a0001 | c0001 | t0001 | g0092 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18981 | hp2 | a0002 | c0002 | t0001 | g0024 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18982 | hp1 | a0001 | c0001 | t0001 | g0094 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0233 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18984 | hp1 | a0002 | c0002 | t0001 | g0027 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18985 | hp1 | a0001 | c0001 | t0001 | g0232 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18986 | hp1 | a0002 | c0002 | t0001 | g0013 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18988 | hp1 | a0004 | c0006 | t0001 | g0003 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18989 | hp1 | a0001 | c0001 | t0001 | g0132 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18990 | hp1 | a0004 | c0006 | t0001 | g0003 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18993 | hp1 | a0001 | c0001 | t0001 | g0185 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18993 | hp2 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0139 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18998 | hp1 | a0001 | c0001 | t0001 | g0048 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18998 | hp2 | a0002 | c0002 | t0001 | g0018 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18999 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18999 | hp2 | a0002 | c0002 | t0001 | g0022 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0110 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19003 | hp1 | a0004 | c0006 | t0001 | g0251 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19003 | hp2 | a0001 | c0001 | t0001 | g0087 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19004 | hp1 | a0005 | c0007 | t0001 | g0068 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0231 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19006 | hp1 | a0001 | c0001 | t0001 | g0172 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0141 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0039 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0252 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19030 | hp1 | a0002 | c0002 | t0001 | g0067 | AFR | LWK | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19030 | hp2 | a0001 | c0003 | t0001 | g0222 | AFR | LWK | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19043 | hp1 | a0001 | c0003 | t0007 | g0223 | AFR | LWK | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19055 | hp1 | a0001 | c0001 | t0001 | g0041 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19056 | hp1 | a0002 | c0002 | t0001 | g0023 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19057 | hp1 | a0002 | c0002 | t0001 | g0011 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19057 | hp2 | a0003 | c0004 | t0001 | g0118 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0240 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0138 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0047 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0149 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0148 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19068 | hp1 | a0002 | c0002 | t0001 | g0028 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0044 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19074 | hp1 | a0001 | c0001 | t0001 | g0239 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19074 | hp2 | a0001 | c0001 | t0001 | g0038 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19075 | hp1 | a0001 | c0001 | t0001 | g0107 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19076 | hp1 | a0001 | c0001 | t0001 | g0234 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0186 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19081 | hp1 | a0001 | c0001 | t0001 | g0122 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19081 | hp2 | a0001 | c0001 | t0001 | g0090 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19082 | hp1 | a0001 | c0001 | t0001 | g0134 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19083 | hp1 | a0001 | c0001 | t0001 | g0247 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19084 | hp1 | a0001 | c0001 | t0001 | g0091 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19084 | hp2 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19085 | hp1 | a0002 | c0002 | t0001 | g0063 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19087 | hp1 | a0001 | c0001 | t0011 | g0244 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19087 | hp2 | a0002 | c0002 | t0001 | g0020 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0191 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19240 | hp1 | a0002 | c0002 | t0001 | g0006 | AFR | YRI | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0155 | AFR | YRI | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0205 | EUR | TSI | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0202 | EUR | TSI | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0156 | SAS | GIH | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01123 | hp1 | a0001 | c0001 | t0001 | g0171 | AMR | CLM | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG01123 | hp2 | a0001 | c0001 | t0001 | g0201 | AMR | CLM | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02109 | hp1 | a0002 | c0002 | t0001 | g0060 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0211 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0210 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02559 | hp1 | a0002 | c0002 | t0001 | g0080 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0255 | AFR | ACB | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| HG03471 | hp1 | a0001 | c0003 | t0001 | g0220 | AFR | MSL | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA20300 | hp1 | a0002 | c0002 | t0001 | g0079 | AFR | USA | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0228 | AFR | USA | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA21309 | hp1 | a0002 | c0002 | t0001 | g0036 | AFR | LWK | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| NA21309 | hp2 | a0001 | c0001 | t0006 | g0212 | AFR | LWK | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0208 | REF | REF | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0136 | REF | REF | COL4A5_chrX_108434838_108702545 | COL4A5 | chrX | 108434838 | 108702545 |
| view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:108575943 | A | G | 1 | a0003 | 6 | NA18949.hp2 NA18951.hp2 NA18959.hp1 others(3): Show |
missense_variant | MODERATE | c.580A>G | p.Ile194Val | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/53 | 868/6531 | 580/5076 | 194/1691 | chrX | 108575943 | |||
| chrX:108591181 | C | A | 1 | a0007 | 1 | HG03490.hp1 | missense_variant | MODERATE | c.1289C>A | p.Ala430Asp | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 20/53 | 1577/6531 | 1289/5076 | 430/1691 | chrX | 108591181 | |||
| chrX:108591223 | T | G | 3 | a0002 a0005 a0010 |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
missense_variant | MODERATE | c.1331T>G | p.Ile444Ser | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 20/53 | 1619/6531 | 1331/5076 | 444/1691 | chrX | 108591223 | |||
| chrX:108595538 | A | G | 1 | a0009 | 1 | HG04184.hp2 | missense_variant | MODERATE | c.1453A>G | p.Ile485Val | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 22/53 | 1741/6531 | 1453/5076 | 485/1691 | chrX | 108595538 | |||
| chrX:108601423 | C | T | 1 | a0010 | 1 | HG04228.hp1 | missense_variant | MODERATE | c.1979C>T | p.Thr660Ile | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 26/53 | 2267/6531 | 1979/5076 | 660/1691 | chrX | 108601423 | |||
| chrX:108603032 | C | G | 1 | a0004 | 3 | NA18988.hp1 NA18990.hp1 NA19003.hp1 |
missense_variant | MODERATE | c.2215C>G | p.Pro739Ala | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/53 | 2503/6531 | 2215/5076 | 739/1691 | chrX | 108603032 | |||
| chrX:108622766 | G | T | 2 | a0005 a0010 |
3 | HG02523.hp1 HG04228.hp1 NA19004.hp1 |
missense_variant | MODERATE | c.2858G>T | p.Gly953Val | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/53 | 3146/6531 | 2858/5076 | 953/1691 | chrX | 108622766 | |||
| chrX:108625717 | A | G | 1 | a0008 | 1 | HG04184.hp1 | missense_variant | MODERATE | c.3029A>G | p.Asn1010Ser | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 35/53 | 3317/6531 | 3029/5076 | 1010/1691 | chrX | 108625717 | |||
| chrX:108626311 | A | G | 1 | a0006 | 1 | HG02630.hp1 | missense_variant | MODERATE | c.3208A>G | p.Ile1070Val | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/53 | 3496/6531 | 3208/5076 | 1070/1691 | chrX | 108626311 | |||
| chrX:108668352 | C | T | 1 | a0011 | 1 | NA18942.hp2 | missense_variant | MODERATE | c.3638C>T | p.Pro1213Leu | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/53 | 3926/6531 | 3638/5076 | 1213/1691 | chrX | 108668352 |
| view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:108586677 | G | C | 5 | a0002c0002 a0002c0005 a0002c0008 others(2): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
synonymous_variant | LOW | c.1095G>C | p.Gly365Gly | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/53 | 1383/6531 | 1095/5076 | 365/1691 | chrX | 108586677 | |||
| chrX:108601898 | T | C | 5 | a0002c0002 a0002c0005 a0002c0008 others(2): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
synonymous_variant | LOW | c.2055T>C | p.Leu685Leu | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 27/53 | 2343/6531 | 2055/5076 | 685/1691 | chrX | 108601898 | |||
| chrX:108606846 | G | A | 5 | a0002c0002 a0002c0005 a0002c0008 others(2): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
synonymous_variant | LOW | c.2349G>A | p.Pro783Pro | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/53 | 2637/6531 | 2349/5076 | 783/1691 | chrX | 108606846 | |||
| chrX:108666554 | A | G | 6 | a0001c0003 a0002c0002 a0002c0005 others(3): Show |
68 | HG01106.hp1 HG01884.hp2 HG01975.hp2 others(65): Show |
synonymous_variant | LOW | c.3513A>G | p.Gln1171Gln | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 39/53 | 3801/6531 | 3513/5076 | 1171/1691 | chrX | 108666554 | |||
| chrX:108666560 | T | G | 1 | a0001c0003 | 12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
synonymous_variant | LOW | c.3519T>G | p.Gly1173Gly | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 39/53 | 3807/6531 | 3519/5076 | 1173/1691 | chrX | 108666560 | |||
| chrX:108677501 | T | A | 1 | a0006c0013 | 1 | HG02630.hp1 | splice_region_variant&synonymous_variant | LOW | c.3810T>A | p.Gly1270Gly | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/53 | 4098/6531 | 3810/5076 | 1270/1691 | chrX | 108677501 | |||
| chrX:108686107 | C | T | 2 | a0002c0002 a0002c0008 |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
synonymous_variant | LOW | c.4293C>T | p.Asp1431Asp | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 48/53 | 4581/6531 | 4293/5076 | 1431/1691 | chrX | 108686107 | |||
| chrX:108687666 | A | G | 1 | a0002c0008 | 1 | HG03098.hp1 | synonymous_variant | LOW | c.4500A>G | p.Gly1500Gly | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/53 | 4788/6531 | 4500/5076 | 1500/1691 | chrX | 108687666 | |||
| chrX:108695311 | C | T | 1 | a0001c0011 | 1 | NA18947.hp2 | synonymous_variant | LOW | c.4866C>T | p.Ser1622Ser | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 52/53 | 5154/6531 | 4866/5076 | 1622/1691 | chrX | 108695311 |
| view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:108439879 | G | C | 1 | a0002c0005t0003 | 1 | HG02080.hp2 | 5_prime_UTR_variant | MODIFIER | c.-247G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/53 | 247 | chrX | 108439879 | ||||||
| chrX:108439961 | T | C | 1 | a0001c0001t0004 | 1 | HG02897.hp2 | 5_prime_UTR_variant | MODIFIER | c.-165T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/53 | 165 | chrX | 108439961 | ||||||
| chrX:108439971 | T | C | 1 | a0001c0001t0005 | 1 | HG01433.hp1 | 5_prime_UTR_variant | MODIFIER | c.-155T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/53 | 155 | chrX | 108439971 | ||||||
| chrX:108696542 | G | A | 1 | a0001c0001t0006 | 1 | NA21309.hp2 | 3_prime_UTR_variant | MODIFIER | c.*164G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 53/53 | 164 | chrX | 108696542 | ||||||
| chrX:108696548 | C | A | 1 | a0001c0003t0007 | 1 | NA19043.hp1 | 3_prime_UTR_variant | MODIFIER | c.*170C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 53/53 | 170 | chrX | 108696548 | ||||||
| chrX:108696701 | A | G | 1 | a0003c0004t0013 | 1 | NA18959.hp1 | 3_prime_UTR_variant | MODIFIER | c.*323A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 53/53 | 323 | chrX | 108696701 | ||||||
| chrX:108697102 | T | G | 1 | a0001c0001t0008 | 1 | HG02683.hp2 | 3_prime_UTR_variant | MODIFIER | c.*724T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 53/53 | 724 | chrX | 108697102 | ||||||
| chrX:108697282 | C | A | 1 | a0001c0001t0009 | 1 | HG03927.hp1 | 3_prime_UTR_variant | MODIFIER | c.*904C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 53/53 | 904 | chrX | 108697282 | ||||||
| chrX:108697329 | C | T | 2 | a0002c0005t0002 a0002c0005t0012 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
3_prime_UTR_variant | MODIFIER | c.*951C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 53/53 | 951 | chrX | 108697329 | ||||||
| chrX:108697382 | T | A | 1 | a0002c0005t0012 | 1 | HG03540.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1004T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 53/53 | 1004 | chrX | 108697382 | ||||||
| chrX:108697424 | A | C | 1 | a0001c0001t0011 | 1 | NA19087.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1046A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 53/53 | 1046 | chrX | 108697424 | ||||||
| chrX:108697504 | C | A | 1 | a0001c0001t0010 | 1 | HG00099.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1126C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 53/53 | 1126 | chrX | 108697504 |
| view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:108440271 | T | TG | 54 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(51): Show |
54 | HG00733.hp2 HG01975.hp2 HG01978.hp2 others(51): Show |
intron_variant | MODIFIER | c.81+75dupG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108440271 | ||||||
| chrX:108440272 | G | T | 1 | a0001c0001t0001g0265 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.81+66G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108440272 | |||||||
| chrX:108440275 | G | C | 1 | a0001c0001t0001g0005 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.81+69G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108440275 | |||||||
| chrX:108440334 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+128T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108440334 | |||||||
| chrX:108440530 | C | G | 7 | a0001c0001t0001g0004 a0001c0001t0001g0259 a0001c0001t0001g0260 others(4): Show |
8 | HG00738.hp1 HG01255.hp1 HG01258.hp1 others(5): Show |
intron_variant | MODIFIER | c.81+324C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108440530 | |||||||
| chrX:108440541 | G | T | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.81+335G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108440541 | |||||||
| chrX:108440562 | C | A | 1 | a0001c0001t0001g0082 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.81+356C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108440562 | |||||||
| chrX:108441147 | TA | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+948delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108441147 | ||||||
| chrX:108441252 | A | G | 1 | a0001c0001t0001g0258 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.81+1046A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108441252 | |||||||
| chrX:108441277 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+1071A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108441277 | |||||||
| chrX:108441745 | C | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+1539C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108441745 | |||||||
| chrX:108441989 | G | T | 1 | a0006c0013t0001g0257 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.81+1783G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108441989 | |||||||
| chrX:108442262 | G | T | 1 | a0001c0001t0001g0256 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.81+2056G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108442262 | |||||||
| chrX:108442312 | G | C | 42 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0038 others(39): Show |
44 | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(41): Show |
intron_variant | MODIFIER | c.81+2106G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108442312 | |||||||
| chrX:108442413 | G | T | 3 | a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 |
3 | HG02559.hp2 HG02970.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.81+2207G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108442413 | |||||||
| chrX:108442809 | C | T | 9 | a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 others(6): Show |
9 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.81+2603C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108442809 | |||||||
| chrX:108442817 | A | G | 4 | a0001c0001t0001g0250 a0001c0001t0001g0252 a0004c0006t0001g0003 others(1): Show |
5 | NA18939.hp1 NA18988.hp1 NA18990.hp1 others(2): Show |
intron_variant | MODIFIER | c.81+2611A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108442817 | |||||||
| chrX:108442880 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+2674T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108442880 | |||||||
| chrX:108443131 | G | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+2925G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108443131 | |||||||
| chrX:108443227 | C | G | 1 | a0001c0001t0001g0249 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.81+3021C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108443227 | |||||||
| chrX:108443415 | A | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+3209A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108443415 | |||||||
| chrX:108443782 | T | C | 6 | a0003c0004t0001g0115 a0003c0004t0001g0116 a0003c0004t0001g0117 others(3): Show |
6 | NA18949.hp2 NA18951.hp2 NA18959.hp1 others(3): Show |
intron_variant | MODIFIER | c.81+3576T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108443782 | |||||||
| chrX:108444066 | A | G | 1 | a0001c0001t0001g0248 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.81+3860A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108444066 | |||||||
| chrX:108444223 | CT | C | 55 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(52): Show |
55 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(52): Show |
intron_variant | MODIFIER | c.81+4028delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108444223 | ||||||
| chrX:108444313 | G | A | 2 | a0002c0002t0001g0060 a0002c0002t0001g0061 |
2 | HG02109.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.81+4107G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108444313 | |||||||
| chrX:108444374 | C | T | 1 | a0001c0001t0001g0247 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.81+4168C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108444374 | |||||||
| chrX:108444379 | C | T | 1 | a0002c0002t0001g0079 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.81+4173C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108444379 | |||||||
| chrX:108444402 | G | A | 1 | a0001c0001t0001g0083 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.81+4196G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108444402 | |||||||
| chrX:108444409 | C | T | 1 | a0002c0002t0001g0061 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.81+4203C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108444409 | |||||||
| chrX:108444940 | A | T | 1 | a0001c0001t0001g0246 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.81+4734A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108444940 | |||||||
| chrX:108444983 | C | T | 1 | a0001c0001t0001g0059 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.81+4777C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108444983 | |||||||
| chrX:108445047 | G | A | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+4841G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108445047 | |||||||
| chrX:108445150 | A | G | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.81+4944A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108445150 | |||||||
| chrX:108445335 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+5129T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108445335 | |||||||
| chrX:108445588 | A | T | 1 | a0001c0001t0001g0245 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.81+5382A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108445588 | |||||||
| chrX:108445701 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+5495T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108445701 | |||||||
| chrX:108446392 | G | T | 1 | a0001c0001t0011g0244 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.81+6186G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108446392 | |||||||
| chrX:108446714 | C | T | 1 | a0001c0001t0001g0243 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.81+6508C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108446714 | |||||||
| chrX:108446890 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+6684A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108446890 | |||||||
| chrX:108446950 | C | T | 1 | a0001c0001t0001g0242 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.81+6744C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108446950 | |||||||
| chrX:108447764 | G | A | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+7558G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108447764 | |||||||
| chrX:108447766 | A | C | 1 | a0001c0001t0001g0004 | 2 | HG01258.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.81+7560A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108447766 | |||||||
| chrX:108447950 | G | A | 1 | a0001c0001t0001g0120 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.81+7744G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108447950 | |||||||
| chrX:108448023 | C | T | 14 | a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 others(11): Show |
14 | HG00099.hp1 HG01099.hp1 HG01256.hp1 others(11): Show |
intron_variant | MODIFIER | c.81+7817C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108448023 | |||||||
| chrX:108448590 | G | A | 1 | a0002c0002t0001g0006 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.81+8384G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108448590 | |||||||
| chrX:108448742 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+8536A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108448742 | |||||||
| chrX:108448888 | T | A | 2 | a0002c0002t0001g0072 a0002c0002t0001g0073 |
2 | HG02451.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.81+8682T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108448888 | |||||||
| chrX:108449075 | C | T | 151 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(148): Show |
153 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(150): Show |
intron_variant | MODIFIER | c.81+8869C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108449075 | |||||||
| chrX:108449336 | G | A | 1 | a0001c0001t0001g0121 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.81+9130G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108449336 | |||||||
| chrX:108449393 | T | C | 1 | a0001c0001t0008g0187 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.81+9187T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108449393 | |||||||
| chrX:108449519 | G | A | 49 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(46): Show |
49 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(46): Show |
intron_variant | MODIFIER | c.81+9313G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108449519 | |||||||
| chrX:108449753 | GT | G | 49 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(46): Show |
49 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(46): Show |
intron_variant | MODIFIER | c.81+9554delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108449753 | ||||||
| chrX:108449948 | C | T | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.81+9742C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108449948 | |||||||
| chrX:108450278 | G | C | 3 | a0005c0007t0001g0068 a0005c0007t0001g0070 a0010c0009t0001g0069 |
3 | HG02523.hp1 HG04228.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.81+10072G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108450278 | |||||||
| chrX:108450720 | T | C | 1 | a0001c0001t0001g0228 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.81+10514T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108450720 | |||||||
| chrX:108450917 | A | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+10711A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108450917 | |||||||
| chrX:108451113 | C | T | 1 | a0005c0007t0001g0070 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.81+10907C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108451113 | |||||||
| chrX:108451307 | G | A | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+11101G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108451307 | |||||||
| chrX:108451376 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+11170A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108451376 | |||||||
| chrX:108451601 | A | G | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.81+11395A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108451601 | |||||||
| chrX:108451811 | T | C | 6 | a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 others(3): Show |
6 | HG00558.hp2 HG00609.hp1 NA18947.hp2 others(3): Show |
intron_variant | MODIFIER | c.81+11605T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108451811 | |||||||
| chrX:108451827 | C | T | 2 | a0001c0001t0001g0217 a0002c0002t0001g0036 |
2 | HG04115.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.81+11621C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108451827 | |||||||
| chrX:108452381 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+12175T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108452381 | |||||||
| chrX:108452384 | G | T | 1 | a0001c0001t0001g0216 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.81+12178G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108452384 | |||||||
| chrX:108452387 | T | C | 80 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(77): Show |
82 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.81+12181T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108452387 | |||||||
| chrX:108452407 | G | A | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+12201G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108452407 | |||||||
| chrX:108452790 | G | A | 1 | a0001c0001t0001g0249 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.81+12584G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108452790 | |||||||
| chrX:108452798 | G | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+12592G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108452798 | |||||||
| chrX:108452977 | C | T | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+12771C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108452977 | |||||||
| chrX:108453047 | T | C | 1 | a0002c0002t0001g0062 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.81+12841T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108453047 | |||||||
| chrX:108453313 | T | C | 1 | a0001c0001t0001g0188 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.81+13107T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108453313 | |||||||
| chrX:108453536 | T | G | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+13330T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108453536 | |||||||
| chrX:108454139 | T | C | 4 | a0001c0001t0001g0040 a0001c0001t0001g0122 a0001c0001t0001g0123 others(1): Show |
4 | HG02074.hp1 NA18947.hp1 NA19081.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+13933T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108454139 | |||||||
| chrX:108454182 | C | G | 3 | a0001c0001t0001g0083 a0001c0001t0001g0111 a0001c0001t0001g0112 |
3 | HG01069.hp1 HG01071.hp2 HG03688.hp1 |
intron_variant | MODIFIER | c.81+13976C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108454182 | |||||||
| chrX:108454378 | A | C | 1 | a0001c0001t0001g0186 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.81+14172A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108454378 | |||||||
| chrX:108454513 | G | A | 1 | a0002c0002t0001g0007 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.81+14307G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108454513 | |||||||
| chrX:108454851 | G | A | 1 | a0001c0001t0001g0124 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.81+14645G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108454851 | |||||||
| chrX:108455018 | A | T | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.81+14812A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108455018 | |||||||
| chrX:108455098 | C | A | 2 | a0001c0003t0001g0218 a0001c0003t0001g0219 |
2 | HG01106.hp1 HG01884.hp2 |
intron_variant | MODIFIER | c.81+14892C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108455098 | |||||||
| chrX:108455477 | T | C | 26 | a0001c0001t0001g0005 a0001c0001t0001g0053 a0001c0001t0001g0188 others(23): Show |
26 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(23): Show |
intron_variant | MODIFIER | c.81+15271T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108455477 | |||||||
| chrX:108455791 | G | A | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+15585G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108455791 | |||||||
| chrX:108455838 | C | G | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+15632C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108455838 | |||||||
| chrX:108455916 | T | G | 1 | a0002c0002t0001g0008 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.81+15710T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108455916 | |||||||
| chrX:108455976 | C | T | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+15770C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108455976 | |||||||
| chrX:108456029 | G | T | 1 | a0002c0008t0001g0078 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.81+15823G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108456029 | |||||||
| chrX:108456447 | A | G | 18 | a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0031 others(15): Show |
18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.81+16241A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108456447 | |||||||
| chrX:108456753 | G | C | 1 | a0001c0001t0001g0125 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.81+16547G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108456753 | |||||||
| chrX:108456958 | C | T | 1 | a0001c0001t0001g0252 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.81+16752C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108456958 | |||||||
| chrX:108456985 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+16779C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108456985 | |||||||
| chrX:108457095 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+16889A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108457095 | |||||||
| chrX:108457337 | G | C | 1 | a0001c0001t0001g0126 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.81+17131G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108457337 | |||||||
| chrX:108457778 | G | T | 18 | a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0031 others(15): Show |
18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.81+17572G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108457778 | |||||||
| chrX:108457858 | C | T | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.81+17652C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108457858 | |||||||
| chrX:108458149 | C | T | 1 | a0002c0002t0001g0036 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.81+17943C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108458149 | |||||||
| chrX:108458158 | ACCAAGAT others(4): Show |
A | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+17953_81+17963d others(13): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108458158 | |||||||
| chrX:108458172 | TCATA | T | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+17967_81+17970d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108458172 | |||||||
| chrX:108458248 | G | T | 30 | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 others(27): Show |
30 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(27): Show |
intron_variant | MODIFIER | c.81+18042G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108458248 | |||||||
| chrX:108458718 | C | T | 6 | a0001c0001t0001g0053 a0001c0001t0001g0205 a0001c0001t0001g0207 others(3): Show |
6 | HG00099.hp2 HG00733.hp2 HG03490.hp1 others(3): Show |
intron_variant | MODIFIER | c.81+18512C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108458718 | |||||||
| chrX:108458902 | C | T | 1 | a0002c0008t0001g0078 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.81+18696C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108458902 | |||||||
| chrX:108458977 | CA | C | 150 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(147): Show |
152 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(149): Show |
intron_variant | MODIFIER | c.81+18786delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108458977 | ||||||
| chrX:108458997 | C | G | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+18791C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108458997 | |||||||
| chrX:108459153 | AT | A | 7 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(4): Show |
7 | HG01106.hp1 HG01884.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+18956delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108459153 | ||||||
| chrX:108459303 | T | C | 1 | a0002c0002t0001g0030 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.81+19097T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108459303 | |||||||
| chrX:108459394 | A | G | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+19188A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108459394 | |||||||
| chrX:108459672 | T | A | 7 | a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 others(4): Show |
7 | NA18957.hp1 NA18973.hp1 NA18983.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+19466T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108459672 | |||||||
| chrX:108459860 | A | G | 2 | a0002c0002t0001g0060 a0002c0002t0001g0061 |
2 | HG02109.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.81+19654A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108459860 | |||||||
| chrX:108459899 | C | A | 1 | a0001c0001t0009g0190 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.81+19693C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108459899 | |||||||
| chrX:108459962 | T | A | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.81+19756T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108459962 | |||||||
| chrX:108460128 | G | C | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+19922G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108460128 | |||||||
| chrX:108460319 | T | C | 1 | a0001c0001t0001g0127 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.81+20113T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108460319 | |||||||
| chrX:108460468 | C | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+20262C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108460468 | |||||||
| chrX:108460646 | C | T | 1 | a0001c0001t0001g0183 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.81+20440C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108460646 | |||||||
| chrX:108460656 | A | AT | 88 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0038 others(85): Show |
90 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(87): Show |
intron_variant | MODIFIER | c.81+20481dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108460656 | ||||||
| chrX:108460656 | A | ATT | 19 | a0001c0001t0001g0005 a0001c0001t0001g0052 a0001c0001t0001g0055 others(16): Show |
19 | HG00735.hp2 HG01106.hp1 HG01123.hp2 others(16): Show |
intron_variant | MODIFIER | c.81+20480_81+20481d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108460656 | ||||||
| chrX:108460656 | A | ATTT | 5 | a0001c0001t0001g0110 a0001c0001t0001g0204 a0001c0001t0001g0264 others(2): Show |
5 | HG01981.hp2 HG02258.hp1 NA18943.hp1 others(2): Show |
intron_variant | MODIFIER | c.81+20479_81+20481d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108460656 | ||||||
| chrX:108460656 | AT | A | 10 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0059 others(7): Show |
10 | HG01256.hp1 HG02622.hp1 NA18522.hp1 others(7): Show |
intron_variant | MODIFIER | c.81+20481delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108460656 | ||||||
| chrX:108460656 | ATTTT | A | 44 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(41): Show |
44 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(41): Show |
intron_variant | MODIFIER | c.81+20478_81+20481d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108460656 | ||||||
| chrX:108460667 | T | TC | 3 | a0001c0001t0001g0210 a0001c0001t0001g0249 a0006c0013t0001g0257 |
3 | HG02486.hp1 HG02630.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.81+20461_81+20462i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108460667 | |||||||
| chrX:108460800 | G | A | 1 | a0001c0001t0001g0125 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.81+20594G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108460800 | |||||||
| chrX:108461078 | T | C | 1 | a0001c0001t0001g0229 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.81+20872T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108461078 | |||||||
| chrX:108461312 | AT | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+21114delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108461312 | ||||||
| chrX:108461742 | C | T | 2 | a0001c0001t0001g0052 a0001c0001t0001g0179 |
2 | HG02132.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.81+21536C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108461742 | |||||||
| chrX:108461849 | C | T | 1 | a0001c0001t0001g0083 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.81+21643C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108461849 | |||||||
| chrX:108461898 | A | G | 30 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 others(27): Show |
30 | HG00099.hp1 HG01099.hp1 HG01192.hp1 others(27): Show |
intron_variant | MODIFIER | c.81+21692A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108461898 | |||||||
| chrX:108461981 | A | G | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+21775A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108461981 | |||||||
| chrX:108462370 | T | C | 1 | a0002c0002t0001g0010 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.81+22164T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108462370 | |||||||
| chrX:108462545 | T | C | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+22339T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108462545 | |||||||
| chrX:108462744 | A | C | 55 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(52): Show |
55 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(52): Show |
intron_variant | MODIFIER | c.81+22538A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108462744 | |||||||
| chrX:108462825 | A | T | 7 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 others(4): Show |
7 | HG02071.hp1 HG02165.hp1 NA18970.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+22619A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108462825 | |||||||
| chrX:108462978 | A | G | 1 | a0002c0002t0001g0035 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.81+22772A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108462978 | |||||||
| chrX:108463119 | A | G | 1 | a0002c0002t0001g0027 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.81+22913A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108463119 | |||||||
| chrX:108463618 | C | A | 151 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(148): Show |
153 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(150): Show |
intron_variant | MODIFIER | c.81+23412C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108463618 | |||||||
| chrX:108464143 | A | T | 1 | a0001c0001t0001g0039 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.81+23937A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108464143 | |||||||
| chrX:108464250 | T | C | 1 | a0005c0007t0001g0068 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.81+24044T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108464250 | |||||||
| chrX:108464333 | A | G | 1 | a0001c0001t0001g0159 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.81+24127A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108464333 | |||||||
| chrX:108464391 | A | G | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+24185A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108464391 | |||||||
| chrX:108464509 | C | T | 1 | a0001c0001t0001g0203 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.81+24303C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108464509 | |||||||
| chrX:108464628 | C | T | 1 | a0001c0001t0001g0053 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.81+24422C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108464628 | |||||||
| chrX:108464988 | C | G | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+24782C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108464988 | |||||||
| chrX:108465283 | T | A | 1 | a0005c0007t0001g0070 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.81+25077T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108465283 | |||||||
| chrX:108465418 | C | A | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+25212C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108465418 | |||||||
| chrX:108465596 | T | G | 1 | a0001c0001t0001g0246 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.81+25390T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108465596 | |||||||
| chrX:108466189 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+25983T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466189 | |||||||
| chrX:108466448 | A | T | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26242A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466448 | |||||||
| chrX:108466625 | G | T | 1 | a0001c0001t0001g0056 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.81+26419G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466625 | |||||||
| chrX:108466691 | C | T | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26485C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466691 | |||||||
| chrX:108466692 | T | C | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26486T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466692 | |||||||
| chrX:108466693 | G | T | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26487G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466693 | |||||||
| chrX:108466713 | T | A | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26507T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466713 | |||||||
| chrX:108466745 | A | C | 1 | a0008c0014t0001g0108 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.81+26539A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466745 | |||||||
| chrX:108466750 | G | T | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26544G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466750 | |||||||
| chrX:108466770 | CT | C | 50 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(47): Show |
50 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(47): Show |
intron_variant | MODIFIER | c.81+26575delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466770 | ||||||
| chrX:108466770 | CTT | C | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+26574_81+26575d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466770 | ||||||
| chrX:108466773 | T | G | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26567T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466773 | |||||||
| chrX:108466774 | T | G | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26568T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466774 | |||||||
| chrX:108466775 | T | C | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26569T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466775 | |||||||
| chrX:108466811 | C | A | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26605C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466811 | |||||||
| chrX:108466812 | C | A | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26606C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466812 | |||||||
| chrX:108466813 | A | G | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26607A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466813 | |||||||
| chrX:108466823 | T | G | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26617T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466823 | |||||||
| chrX:108466878 | C | T | 2 | a0002c0002t0001g0025 a0002c0002t0001g0026 |
2 | NA18960.hp1 NA18969.hp1 |
intron_variant | MODIFIER | c.81+26672C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466878 | |||||||
| chrX:108466941 | A | ATTGACAA others(6): Show |
1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26736_81+26737i others(15): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466941 | ||||||
| chrX:108466954 | A | T | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26748A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466954 | |||||||
| chrX:108466959 | C | T | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26753C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466959 | |||||||
| chrX:108466960 | T | C | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26754T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466960 | |||||||
| chrX:108466961 | C | T | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26755C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108466961 | |||||||
| chrX:108466978 | TTTTTTCA others(9): Show |
T | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26774_81+26789d others(18): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108466978 | ||||||
| chrX:108467000 | T | G | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26794T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467000 | |||||||
| chrX:108467044 | G | A | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+26838G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467044 | |||||||
| chrX:108467310 | A | G | 30 | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 others(27): Show |
30 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(27): Show |
intron_variant | MODIFIER | c.81+27104A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467310 | |||||||
| chrX:108467340 | C | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+27134C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467340 | |||||||
| chrX:108467590 | T | G | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+27384T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467590 | |||||||
| chrX:108467591 | A | G | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+27385A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467591 | |||||||
| chrX:108467601 | T | G | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+27395T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467601 | |||||||
| chrX:108467603 | A | ATATATTC others(19): Show |
1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+27399_81+27400i others(28): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108467603 | ||||||
| chrX:108467676 | C | T | 1 | a0001c0001t0001g0087 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.81+27470C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467676 | |||||||
| chrX:108467686 | T | C | 2 | a0001c0003t0001g0224 a0001c0003t0001g0225 |
2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.81+27480T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467686 | |||||||
| chrX:108467931 | C | A | 1 | a0006c0013t0001g0257 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.81+27725C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108467931 | |||||||
| chrX:108468002 | T | C | 1 | a0001c0001t0001g0125 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.81+27796T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468002 | |||||||
| chrX:108468201 | C | A | 1 | a0001c0001t0001g0180 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.81+27995C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468201 | |||||||
| chrX:108468376 | C | A | 1 | a0001c0001t0001g0131 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.81+28170C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468376 | |||||||
| chrX:108468429 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+28223T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468429 | |||||||
| chrX:108468495 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+28289G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468495 | |||||||
| chrX:108468501 | G | GT | 11 | a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0082 others(8): Show |
11 | HG01255.hp1 HG02080.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.81+28310dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108468501 | ||||||
| chrX:108468501 | GT | G | 52 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(49): Show |
52 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(49): Show |
intron_variant | MODIFIER | c.81+28310delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108468501 | ||||||
| chrX:108468591 | AT | A | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.81+28396delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108468591 | ||||||
| chrX:108468592 | T | C | 1 | a0001c0001t0001g0098 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.81+28386T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468592 | |||||||
| chrX:108468676 | G | A | 151 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(148): Show |
153 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(150): Show |
intron_variant | MODIFIER | c.81+28470G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468676 | |||||||
| chrX:108468716 | G | T | 1 | a0002c0005t0001g0071 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.81+28510G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468716 | |||||||
| chrX:108468776 | G | GT | 5 | a0001c0001t0001g0051 a0001c0001t0001g0107 a0001c0001t0001g0110 others(2): Show |
5 | HG02071.hp1 HG02523.hp1 NA18993.hp1 others(2): Show |
intron_variant | MODIFIER | c.81+28580dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108468776 | ||||||
| chrX:108468830 | T | C | 1 | a0001c0001t0001g0191 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.81+28624T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468830 | |||||||
| chrX:108468849 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+28643A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468849 | |||||||
| chrX:108468890 | G | A | 1 | a0001c0001t0001g0256 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.81+28684G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108468890 | |||||||
| chrX:108469166 | TC | T | 4 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0249 others(1): Show |
4 | HG02109.hp2 HG02486.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+28961delC | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108469166 | |||||||
| chrX:108469169 | C | CT | 22 | a0001c0001t0001g0004 a0001c0001t0001g0085 a0001c0001t0001g0090 others(19): Show |
23 | HG00140.hp1 HG01081.hp2 HG01106.hp1 others(20): Show |
intron_variant | MODIFIER | c.81+28981dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108469169 | ||||||
| chrX:108469169 | C | CTT | 70 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0038 others(67): Show |
71 | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(68): Show |
intron_variant | MODIFIER | c.81+28980_81+28981d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108469169 | ||||||
| chrX:108469169 | C | T | 4 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0249 others(1): Show |
4 | HG02109.hp2 HG02486.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+28963C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108469169 | |||||||
| chrX:108469169 | CT | C | 9 | a0001c0001t0001g0124 a0001c0001t0001g0131 a0002c0002t0001g0011 others(6): Show |
9 | HG01081.hp1 HG02809.hp2 HG02922.hp2 others(6): Show |
intron_variant | MODIFIER | c.81+28981delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108469169 | ||||||
| chrX:108469188 | G | T | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.81+28982G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108469188 | |||||||
| chrX:108469283 | C | T | 1 | a0001c0001t0001g0215 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.81+29077C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108469283 | |||||||
| chrX:108469771 | A | G | 1 | a0008c0014t0001g0108 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.81+29565A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108469771 | |||||||
| chrX:108469923 | A | G | 1 | a0001c0001t0001g0156 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.81+29717A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108469923 | |||||||
| chrX:108470060 | T | A | 1 | a0002c0002t0001g0028 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.81+29854T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108470060 | |||||||
| chrX:108470194 | T | A | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+29988T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108470194 | |||||||
| chrX:108470716 | C | A | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+30510C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108470716 | |||||||
| chrX:108470728 | G | A | 1 | a0001c0001t0001g0109 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.81+30522G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108470728 | |||||||
| chrX:108470740 | G | A | 6 | a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 others(3): Show |
6 | HG00558.hp2 HG00609.hp1 NA18947.hp2 others(3): Show |
intron_variant | MODIFIER | c.81+30534G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108470740 | |||||||
| chrX:108470951 | C | T | 1 | a0001c0001t0001g0234 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.81+30745C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108470951 | |||||||
| chrX:108471004 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+30798G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471004 | |||||||
| chrX:108471156 | A | G | 6 | a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 others(3): Show |
6 | NA18612.hp1 NA18941.hp1 NA18981.hp2 others(3): Show |
intron_variant | MODIFIER | c.81+30950A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471156 | |||||||
| chrX:108471254 | G | A | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+31048G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471254 | |||||||
| chrX:108471305 | A | G | 1 | a0001c0001t0001g0051 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.81+31099A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471305 | |||||||
| chrX:108471469 | A | G | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+31263A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471469 | |||||||
| chrX:108471476 | T | C | 4 | a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0201 others(1): Show |
4 | HG00140.hp1 HG01074.hp1 HG01123.hp2 others(1): Show |
intron_variant | MODIFIER | c.81+31270T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471476 | |||||||
| chrX:108471515 | G | A | 1 | a0005c0007t0001g0068 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.81+31309G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471515 | |||||||
| chrX:108471568 | G | T | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.81+31362G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471568 | |||||||
| chrX:108471660 | A | T | 30 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 others(27): Show |
30 | HG00099.hp1 HG01099.hp1 HG01192.hp1 others(27): Show |
intron_variant | MODIFIER | c.81+31454A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471660 | |||||||
| chrX:108471879 | T | C | 2 | a0001c0001t0001g0002 a0001c0001t0001g0095 |
3 | NA18939.hp2 NA18955.hp1 NA18999.hp1 |
intron_variant | MODIFIER | c.81+31673T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471879 | |||||||
| chrX:108471916 | G | T | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+31710G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471916 | |||||||
| chrX:108471970 | G | A | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+31764G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471970 | |||||||
| chrX:108471990 | G | A | 2 | a0001c0001t0001g0056 a0001c0001t0001g0059 |
2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.81+31784G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108471990 | |||||||
| chrX:108472077 | T | A | 1 | a0001c0001t0008g0187 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.81+31871T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108472077 | |||||||
| chrX:108472078 | G | A | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+31872G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108472078 | |||||||
| chrX:108472244 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+32038T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108472244 | |||||||
| chrX:108472254 | G | T | 151 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(148): Show |
153 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(150): Show |
intron_variant | MODIFIER | c.81+32048G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108472254 | |||||||
| chrX:108472581 | C | T | 1 | a0001c0001t0001g0155 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.81+32375C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108472581 | |||||||
| chrX:108472740 | A | T | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+32534A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108472740 | |||||||
| chrX:108472911 | C | G | 1 | a0001c0001t0001g0110 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.81+32705C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108472911 | |||||||
| chrX:108472922 | C | T | 1 | a0001c0001t0001g0174 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.81+32716C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108472922 | |||||||
| chrX:108473078 | A | G | 1 | a0001c0001t0001g0165 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.81+32872A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473078 | |||||||
| chrX:108473196 | T | G | 1 | a0009c0015t0001g0181 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.81+32990T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473196 | |||||||
| chrX:108473592 | G | A | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.81+33386G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473592 | |||||||
| chrX:108473595 | T | TTA | 3 | a0001c0001t0001g0174 a0001c0001t0001g0250 a0002c0002t0001g0074 |
3 | HG03453.hp1 HG03516.hp1 NA18939.hp1 |
intron_variant | MODIFIER | c.81+33405_81+33406d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473595 | ||||||
| chrX:108473597 | ATATATAT others(9): Show |
A | 1 | a0001c0001t0001g0215 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.81+33407_81+33422d others(18): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473597 | ||||||
| chrX:108473611 | A | G | 2 | a0001c0001t0001g0263 a0002c0002t0001g0075 |
2 | HG02257.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.81+33405A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473611 | |||||||
| chrX:108473613 | G | A | 3 | a0001c0001t0001g0214 a0001c0001t0001g0263 a0002c0002t0001g0075 |
3 | HG02257.hp2 HG02717.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.81+33407G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473613 | |||||||
| chrX:108473613 | G | GTA | 3 | a0001c0001t0001g0040 a0001c0001t0001g0122 a0001c0001t0001g0123 |
3 | HG02074.hp1 NA18947.hp1 NA19081.hp1 |
intron_variant | MODIFIER | c.81+33427_81+33428d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473613 | ||||||
| chrX:108473614 | TATATATA others(10): Show |
T | 1 | a0001c0001t0001g0214 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.81+33409_81+33425d others(19): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473614 | |||||||
| chrX:108473631 | A | T | 1 | a0001c0001t0001g0215 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.81+33425A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473631 | |||||||
| chrX:108473633 | A | ATATATAT others(10): Show |
1 | a0001c0001t0001g0196 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(19): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(17): Show |
1 | a0001c0001t0001g0205 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(26): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(18): Show |
1 | a0001c0001t0001g0096 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.81+33428_81+33429i others(27): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(15): Show |
2 | a0001c0001t0001g0189 a0001c0001t0001g0195 |
2 | HG01071.hp1 HG02698.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(24): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(11): Show |
3 | a0001c0001t0001g0085 a0001c0001t0001g0188 a0001c0001t0004g0054 |
3 | HG02897.hp2 HG03942.hp1 NA18948.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(20): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(13): Show |
3 | a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0256 |
3 | HG03540.hp2 NA18943.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(15): Show |
2 | a0001c0001t0001g0192 a0001c0001t0001g0201 |
2 | HG00140.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(24): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(9): Show |
1 | a0001c0001t0001g0197 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(18): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(10): Show |
10 | a0001c0001t0001g0053 a0001c0001t0001g0087 a0001c0001t0001g0088 others(7): Show |
10 | HG00609.hp1 HG00733.hp2 HG00738.hp1 others(7): Show |
intron_variant | MODIFIER | c.81+33428_81+33429i others(19): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(11): Show |
9 | a0001c0001t0001g0055 a0001c0001t0001g0111 a0001c0001t0001g0207 others(6): Show |
9 | HG00099.hp2 HG01069.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.81+33428_81+33429i others(20): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(12): Show |
3 | a0001c0001t0001g0112 a0001c0001t0001g0262 a0001c0001t0009g0190 |
3 | HG01071.hp2 HG01255.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(21): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(8): Show |
2 | a0001c0001t0001g0086 a0001c0001t0001g0198 |
2 | HG00558.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(17): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(9): Show |
5 | a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0191 others(2): Show |
5 | HG00280.hp1 HG01167.hp1 NA18942.hp1 others(2): Show |
intron_variant | MODIFIER | c.81+33428_81+33429i others(18): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(10): Show |
24 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0038 others(21): Show |
26 | HG00408.hp1 HG00642.hp1 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.81+33428_81+33429i others(19): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(11): Show |
7 | a0001c0001t0001g0039 a0001c0001t0001g0059 a0001c0001t0001g0210 others(4): Show |
7 | HG00735.hp1 HG02486.hp1 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+33428_81+33429i others(20): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(12): Show |
1 | a0001c0001t0001g0109 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(21): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(8): Show |
1 | a0001c0001t0001g0056 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.81+33428_81+33429i others(17): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(9): Show |
2 | a0001c0001t0001g0005 a0001c0001t0001g0245 |
2 | HG02056.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(18): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(10): Show |
1 | a0001c0001t0001g0106 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(19): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(11): Show |
1 | a0001c0001t0008g0187 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.81+33428_81+33429i others(20): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(6): Show |
2 | a0002c0002t0001g0006 a0002c0002t0001g0035 |
2 | HG02723.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(15): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(7): Show |
3 | a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0079 |
3 | HG02922.hp2 HG03195.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(16): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(8): Show |
1 | a0001c0001t0001g0263 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(17): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(1): Show |
8 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(5): Show |
8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.81+33428_81+33429i others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(5): Show |
1 | a0002c0002t0001g0033 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.81+33428_81+33429i others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATAT others(6): Show |
2 | a0002c0002t0001g0030 a0002c0002t0001g0067 |
2 | HG03041.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(15): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATTT others(3): Show |
1 | a0005c0007t0001g0068 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(12): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATTT others(4): Show |
2 | a0002c0002t0001g0013 a0002c0002t0001g0036 |
2 | NA18986.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(13): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATTT others(5): Show |
1 | a0002c0002t0001g0025 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATATTT others(6): Show |
2 | a0002c0002t0001g0020 a0002c0002t0001g0063 |
2 | NA19085.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(15): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATTTTT others(3): Show |
3 | a0002c0002t0001g0011 a0002c0002t0001g0021 a0002c0002t0001g0065 |
3 | HG03486.hp2 NA18941.hp1 NA19057.hp1 |
intron_variant | MODIFIER | c.81+33428_81+33429i others(12): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATTTTT others(4): Show |
18 | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 others(15): Show |
18 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(15): Show |
intron_variant | MODIFIER | c.81+33428_81+33429i others(13): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATATTTTT others(6): Show |
1 | a0002c0002t0001g0034 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.81+33428_81+33429i others(15): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATTTTTTT others(3): Show |
6 | a0002c0002t0001g0061 a0002c0002t0001g0066 a0002c0002t0001g0075 others(3): Show |
6 | HG02257.hp2 HG02622.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.81+33431_81+33440d others(12): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | ATTTTTTT others(5): Show |
6 | a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0076 others(3): Show |
6 | HG02451.hp1 HG02559.hp1 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.81+33429_81+33440d others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108473633 | ||||||
| chrX:108473633 | A | T | 14 | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 others(11): Show |
14 | HG01261.hp1 HG01515.hp1 HG01517.hp2 others(11): Show |
intron_variant | MODIFIER | c.81+33427A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473633 | |||||||
| chrX:108473635 | T | A | 10 | a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0228 others(7): Show |
10 | HG00099.hp1 HG01109.hp1 NA18957.hp1 others(7): Show |
intron_variant | MODIFIER | c.81+33429T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473635 | |||||||
| chrX:108473692 | T | C | 151 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(148): Show |
153 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(150): Show |
intron_variant | MODIFIER | c.81+33486T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473692 | |||||||
| chrX:108473872 | T | G | 1 | a0001c0001t0001g0243 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.81+33666T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473872 | |||||||
| chrX:108473883 | C | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+33677C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108473883 | |||||||
| chrX:108474387 | A | C | 8 | a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 others(5): Show |
8 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.81+34181A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108474387 | |||||||
| chrX:108474446 | G | A | 3 | a0001c0001t0001g0083 a0001c0001t0001g0111 a0001c0001t0001g0112 |
3 | HG01069.hp1 HG01071.hp2 HG03688.hp1 |
intron_variant | MODIFIER | c.81+34240G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108474446 | |||||||
| chrX:108474620 | T | A | 1 | a0001c0001t0001g0252 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.81+34414T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108474620 | |||||||
| chrX:108474779 | G | T | 1 | a0002c0002t0001g0034 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.81+34573G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108474779 | |||||||
| chrX:108474834 | C | T | 1 | a0001c0003t0007g0223 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.81+34628C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108474834 | |||||||
| chrX:108475289 | T | C | 3 | a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 |
3 | HG02559.hp2 HG02970.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.81+35083T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108475289 | |||||||
| chrX:108475403 | C | G | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+35197C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108475403 | |||||||
| chrX:108475466 | T | G | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+35260T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108475466 | |||||||
| chrX:108475533 | G | A | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.81+35327G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108475533 | |||||||
| chrX:108475637 | T | C | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+35431T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108475637 | |||||||
| chrX:108475790 | C | T | 14 | a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 others(11): Show |
14 | HG00099.hp1 HG01099.hp1 HG01256.hp1 others(11): Show |
intron_variant | MODIFIER | c.81+35584C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108475790 | |||||||
| chrX:108476247 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+36041A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108476247 | |||||||
| chrX:108476334 | A | G | 1 | a0001c0001t0001g0194 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.81+36128A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108476334 | |||||||
| chrX:108476340 | A | G | 3 | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 |
3 | NA18953.hp1 NA19063.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.81+36134A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108476340 | |||||||
| chrX:108476373 | T | C | 1 | a0001c0001t0011g0244 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.81+36167T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108476373 | |||||||
| chrX:108476519 | C | CT | 7 | a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0163 others(4): Show |
7 | HG02015.hp1 HG02559.hp2 HG02970.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+36337dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108476519 | ||||||
| chrX:108476519 | CT | C | 144 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(141): Show |
146 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(143): Show |
intron_variant | MODIFIER | c.81+36337delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108476519 | ||||||
| chrX:108476519 | CTT | C | 9 | a0001c0001t0001g0093 a0001c0001t0001g0198 a0001c0001t0001g0199 others(6): Show |
9 | HG00280.hp1 HG01169.hp2 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.81+36336_81+36337d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108476519 | ||||||
| chrX:108476542 | T | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+36336T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108476542 | |||||||
| chrX:108476543 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+36337T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108476543 | |||||||
| chrX:108476842 | A | T | 1 | a0001c0001t0001g0256 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.81+36636A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108476842 | |||||||
| chrX:108476895 | G | A | 1 | a0001c0001t0001g0160 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.81+36689G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108476895 | |||||||
| chrX:108476898 | A | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+36692A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108476898 | |||||||
| chrX:108476924 | C | T | 2 | a0002c0002t0001g0008 a0002c0002t0001g0019 |
2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.81+36718C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108476924 | |||||||
| chrX:108477045 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+36839T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108477045 | |||||||
| chrX:108477068 | C | T | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+36862C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108477068 | |||||||
| chrX:108477815 | C | CA | 9 | a0001c0001t0001g0099 a0001c0001t0001g0166 a0001c0001t0001g0246 others(6): Show |
9 | HG01169.hp1 HG01975.hp2 HG01978.hp1 others(6): Show |
intron_variant | MODIFIER | c.81+37629dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108477815 | ||||||
| chrX:108477815 | CA | C | 11 | a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 others(8): Show |
11 | HG00733.hp1 HG01517.hp2 HG01943.hp1 others(8): Show |
intron_variant | MODIFIER | c.81+37629delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108477815 | ||||||
| chrX:108477868 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+37662C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108477868 | |||||||
| chrX:108478273 | C | T | 1 | a0001c0001t0001g0113 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.81+38067C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108478273 | |||||||
| chrX:108478346 | T | C | 151 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(148): Show |
153 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(150): Show |
intron_variant | MODIFIER | c.81+38140T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108478346 | |||||||
| chrX:108478374 | C | T | 1 | a0001c0001t0001g0243 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.81+38168C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108478374 | |||||||
| chrX:108478468 | G | T | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+38262G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108478468 | |||||||
| chrX:108478533 | C | G | 1 | a0001c0001t0001g0265 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.81+38327C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108478533 | |||||||
| chrX:108478788 | T | A | 2 | a0001c0001t0001g0056 a0001c0001t0001g0059 |
2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.81+38582T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108478788 | |||||||
| chrX:108478971 | G | A | 1 | a0001c0001t0001g0134 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.81+38765G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108478971 | |||||||
| chrX:108479540 | C | G | 1 | a0001c0001t0001g0213 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.81+39334C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108479540 | |||||||
| chrX:108479723 | A | G | 1 | a0002c0002t0001g0034 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.81+39517A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108479723 | |||||||
| chrX:108479743 | T | C | 1 | a0010c0009t0001g0069 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.81+39537T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108479743 | |||||||
| chrX:108479769 | G | A | 8 | a0001c0011t0001g0084 a0002c0005t0001g0071 a0002c0005t0002g0001 others(5): Show |
8 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.81+39563G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108479769 | |||||||
| chrX:108480093 | C | G | 1 | a0001c0001t0001g0121 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.81+39887C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108480093 | |||||||
| chrX:108480146 | A | G | 1 | a0001c0001t0001g0162 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.81+39940A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108480146 | |||||||
| chrX:108480211 | A | G | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+40005A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108480211 | |||||||
| chrX:108480215 | G | A | 1 | a0001c0001t0010g0206 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.81+40009G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108480215 | |||||||
| chrX:108480328 | G | C | 1 | a0005c0007t0001g0068 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.81+40122G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108480328 | |||||||
| chrX:108480571 | G | A | 24 | a0001c0001t0001g0005 a0001c0001t0001g0053 a0001c0001t0001g0188 others(21): Show |
24 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(21): Show |
intron_variant | MODIFIER | c.81+40365G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108480571 | |||||||
| chrX:108480899 | C | T | 1 | a0001c0001t0001g0159 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.81+40693C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108480899 | |||||||
| chrX:108480948 | G | A | 30 | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 others(27): Show |
30 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(27): Show |
intron_variant | MODIFIER | c.81+40742G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108480948 | |||||||
| chrX:108481055 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+40849A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108481055 | |||||||
| chrX:108481134 | T | C | 4 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0249 others(1): Show |
4 | HG02109.hp2 HG02486.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+40928T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108481134 | |||||||
| chrX:108481139 | A | T | 14 | a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 others(11): Show |
14 | HG00099.hp1 HG01099.hp1 HG01256.hp1 others(11): Show |
intron_variant | MODIFIER | c.81+40933A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108481139 | |||||||
| chrX:108481238 | C | T | 8 | a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 others(5): Show |
8 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.81+41032C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108481238 | |||||||
| chrX:108481247 | T | TGGG | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.81+41042_81+41043i others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108481247 | ||||||
| chrX:108481250 | C | CTATG | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.81+41044_81+41045i others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108481250 | |||||||
| chrX:108481507 | T | C | 2 | a0001c0001t0001g0056 a0001c0001t0001g0059 |
2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.81+41301T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108481507 | |||||||
| chrX:108481615 | T | C | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+41409T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108481615 | |||||||
| chrX:108481898 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+41692A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108481898 | |||||||
| chrX:108482097 | A | C | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+41891A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108482097 | |||||||
| chrX:108482569 | T | G | 1 | a0001c0001t0001g0126 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.81+42363T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108482569 | |||||||
| chrX:108482920 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+42714C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108482920 | |||||||
| chrX:108482943 | C | A | 18 | a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0031 others(15): Show |
18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.81+42737C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108482943 | |||||||
| chrX:108483081 | G | A | 1 | a0001c0001t0001g0056 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.81+42875G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108483081 | |||||||
| chrX:108483116 | C | A | 1 | a0001c0001t0001g0151 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.81+42910C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108483116 | |||||||
| chrX:108483203 | A | ATGTG | 21 | a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0013 others(18): Show |
21 | HG02083.hp1 HG02155.hp2 HG02257.hp2 others(18): Show |
intron_variant | MODIFIER | c.81+43013_81+43016d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108483203 | ||||||
| chrX:108483203 | A | ATGTGTG | 27 | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 others(24): Show |
27 | HG01975.hp2 HG01978.hp2 HG02109.hp1 others(24): Show |
intron_variant | MODIFIER | c.81+43011_81+43016d others(8): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108483203 | ||||||
| chrX:108483223 | A | ATG | 57 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0038 others(54): Show |
59 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(56): Show |
intron_variant | MODIFIER | c.81+43041_81+43042d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108483223 | ||||||
| chrX:108483270 | G | A | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+43064G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108483270 | |||||||
| chrX:108483361 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+43155T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108483361 | |||||||
| chrX:108483468 | C | T | 1 | a0001c0001t0001g0050 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.81+43262C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108483468 | |||||||
| chrX:108483494 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+43288A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108483494 | |||||||
| chrX:108483550 | C | T | 8 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(5): Show |
8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.81+43344C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108483550 | |||||||
| chrX:108483614 | T | G | 2 | a0002c0002t0001g0014 a0002c0002t0001g0015 |
2 | HG01975.hp2 HG01978.hp2 |
intron_variant | MODIFIER | c.81+43408T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108483614 | |||||||
| chrX:108484118 | A | G | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+43912A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108484118 | |||||||
| chrX:108484866 | G | A | 1 | a0001c0001t0001g0096 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.81+44660G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108484866 | |||||||
| chrX:108484934 | T | C | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.81+44728T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108484934 | |||||||
| chrX:108485033 | T | C | 1 | a0001c0001t0001g0183 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.81+44827T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108485033 | |||||||
| chrX:108485105 | G | A | 4 | a0001c0001t0001g0040 a0001c0001t0001g0122 a0001c0001t0001g0123 others(1): Show |
4 | HG02074.hp1 NA18947.hp1 NA19081.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+44899G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108485105 | |||||||
| chrX:108485296 | C | T | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.81+45090C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108485296 | |||||||
| chrX:108485389 | C | A | 3 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 |
3 | NA18971.hp1 NA19055.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.81+45183C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108485389 | |||||||
| chrX:108485463 | C | G | 1 | a0001c0001t0005g0193 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.81+45257C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108485463 | |||||||
| chrX:108485609 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+45403A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108485609 | |||||||
| chrX:108485738 | G | T | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+45532G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108485738 | |||||||
| chrX:108486095 | T | C | 1 | a0001c0001t0005g0193 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.81+45889T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108486095 | |||||||
| chrX:108486114 | T | G | 2 | a0001c0001t0001g0152 a0001c0001t0001g0156 |
2 | HG01934.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.81+45908T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108486114 | |||||||
| chrX:108486353 | C | A | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+46147C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108486353 | |||||||
| chrX:108486447 | G | A | 1 | a0009c0015t0001g0181 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.81+46241G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108486447 | |||||||
| chrX:108486574 | A | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+46368A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108486574 | |||||||
| chrX:108486625 | G | A | 1 | a0006c0013t0001g0257 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.81+46419G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108486625 | |||||||
| chrX:108486946 | T | G | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.81+46740T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108486946 | |||||||
| chrX:108487034 | G | T | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+46828G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108487034 | |||||||
| chrX:108487285 | G | A | 1 | a0001c0001t0001g0053 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.81+47079G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108487285 | |||||||
| chrX:108487315 | G | A | 1 | a0001c0001t0001g0158 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.81+47109G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108487315 | |||||||
| chrX:108487377 | C | T | 1 | a0002c0002t0001g0077 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.81+47171C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108487377 | |||||||
| chrX:108487390 | C | CA | 8 | a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 others(5): Show |
8 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.81+47201dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108487390 | ||||||
| chrX:108487411 | G | A | 2 | a0002c0002t0001g0014 a0002c0002t0001g0067 |
2 | HG01975.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.81+47205G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108487411 | |||||||
| chrX:108487413 | A | AAAG | 54 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(51): Show |
54 | HG01978.hp2 HG02055.hp1 HG02080.hp2 others(51): Show |
intron_variant | MODIFIER | c.81+47214_81+47216d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108487413 | ||||||
| chrX:108487413 | A | G | 2 | a0002c0002t0001g0014 a0002c0002t0001g0067 |
2 | HG01975.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.81+47207A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108487413 | |||||||
| chrX:108487797 | A | G | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.81+47591A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108487797 | |||||||
| chrX:108487843 | A | G | 1 | a0001c0003t0001g0226 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.81+47637A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108487843 | |||||||
| chrX:108488511 | G | A | 18 | a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0091 others(15): Show |
19 | HG00408.hp1 HG00438.hp2 HG00642.hp1 others(16): Show |
intron_variant | MODIFIER | c.81+48305G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108488511 | |||||||
| chrX:108488532 | C | A | 1 | a0001c0001t0001g0174 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.81+48326C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108488532 | |||||||
| chrX:108488628 | T | G | 8 | a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0031 others(5): Show |
8 | HG02723.hp2 HG02818.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.81+48422T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108488628 | |||||||
| chrX:108488689 | A | G | 1 | a0004c0006t0001g0251 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.81+48483A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108488689 | |||||||
| chrX:108488751 | C | A | 1 | a0001c0003t0001g0218 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.81+48545C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108488751 | |||||||
| chrX:108488816 | C | A | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+48610C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108488816 | |||||||
| chrX:108488912 | C | A | 4 | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(1): Show |
4 | HG00408.hp2 NA18945.hp1 NA18966.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+48706C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108488912 | |||||||
| chrX:108488913 | A | C | 4 | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(1): Show |
4 | HG00408.hp2 NA18945.hp1 NA18966.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+48707A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108488913 | |||||||
| chrX:108489437 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.81+49231G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108489437 | |||||||
| chrX:108489648 | T | A | 2 | a0002c0002t0001g0025 a0002c0002t0001g0026 |
2 | NA18960.hp1 NA18969.hp1 |
intron_variant | MODIFIER | c.81+49442T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108489648 | |||||||
| chrX:108489930 | T | C | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.81+49724T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108489930 | |||||||
| chrX:108489938 | T | C | 1 | a0001c0001t0001g0262 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.81+49732T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108489938 | |||||||
| chrX:108489977 | A | C | 4 | a0001c0001t0001g0170 a0001c0001t0001g0253 a0001c0001t0001g0254 others(1): Show |
4 | HG02559.hp2 HG02970.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-49769A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108489977 | |||||||
| chrX:108490099 | T | C | 1 | a0011c0012t0001g0128 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.82-49647T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108490099 | |||||||
| chrX:108490676 | G | A | 4 | a0001c0001t0001g0040 a0001c0001t0001g0122 a0001c0001t0001g0123 others(1): Show |
4 | HG02074.hp1 NA18947.hp1 NA19081.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-49070G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108490676 | |||||||
| chrX:108491003 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-48743A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108491003 | |||||||
| chrX:108491124 | A | C | 6 | a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 others(3): Show |
6 | HG00558.hp2 HG00609.hp1 NA18947.hp2 others(3): Show |
intron_variant | MODIFIER | c.82-48622A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108491124 | |||||||
| chrX:108491281 | C | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-48465C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108491281 | |||||||
| chrX:108491343 | A | G | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.82-48403A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108491343 | |||||||
| chrX:108491369 | G | A | 1 | a0001c0001t0001g0174 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.82-48377G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108491369 | |||||||
| chrX:108491486 | T | C | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-48260T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108491486 | |||||||
| chrX:108492462 | C | G | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-47284C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108492462 | |||||||
| chrX:108492517 | G | T | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-47229G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108492517 | |||||||
| chrX:108493242 | T | G | 1 | a0002c0002t0001g0066 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.82-46504T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108493242 | |||||||
| chrX:108493807 | GA | G | 141 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(138): Show |
143 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(140): Show |
intron_variant | MODIFIER | c.82-45924delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108493807 | ||||||
| chrX:108493807 | GAA | G | 11 | a0001c0001t0001g0038 a0001c0001t0001g0093 a0001c0001t0001g0094 others(8): Show |
11 | HG00438.hp2 HG02080.hp2 HG02155.hp2 others(8): Show |
intron_variant | MODIFIER | c.82-45925_82-45924d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108493807 | ||||||
| chrX:108494006 | C | G | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.82-45740C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108494006 | |||||||
| chrX:108494189 | A | G | 1 | a0002c0002t0001g0029 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.82-45557A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108494189 | |||||||
| chrX:108494333 | A | G | 1 | a0001c0001t0001g0151 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.82-45413A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108494333 | |||||||
| chrX:108494371 | G | A | 30 | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 others(27): Show |
30 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(27): Show |
intron_variant | MODIFIER | c.82-45375G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108494371 | |||||||
| chrX:108494500 | C | T | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-45246C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108494500 | |||||||
| chrX:108494501 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-45245A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108494501 | |||||||
| chrX:108494876 | C | T | 1 | a0001c0001t0001g0255 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.82-44870C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108494876 | |||||||
| chrX:108495001 | G | A | 151 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(148): Show |
153 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(150): Show |
intron_variant | MODIFIER | c.82-44745G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495001 | |||||||
| chrX:108495200 | C | T | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.82-44546C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495200 | |||||||
| chrX:108495249 | G | T | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44497G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495249 | |||||||
| chrX:108495254 | C | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44492C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495254 | |||||||
| chrX:108495262 | C | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44484C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495262 | |||||||
| chrX:108495263 | G | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44483G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495263 | |||||||
| chrX:108495265 | T | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44481T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495265 | |||||||
| chrX:108495274 | A | T | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44472A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495274 | |||||||
| chrX:108495282 | C | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44464C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495282 | |||||||
| chrX:108495285 | C | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44461C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495285 | |||||||
| chrX:108495287 | C | T | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44459C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495287 | |||||||
| chrX:108495288 | C | T | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44458C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495288 | |||||||
| chrX:108495291 | G | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44455G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495291 | |||||||
| chrX:108495293 | G | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44453G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495293 | |||||||
| chrX:108495294 | C | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44452C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495294 | |||||||
| chrX:108495297 | G | T | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44449G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495297 | |||||||
| chrX:108495303 | G | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44443G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495303 | |||||||
| chrX:108495309 | T | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44437T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495309 | |||||||
| chrX:108495310 | T | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44436T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495310 | |||||||
| chrX:108495312 | G | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44434G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495312 | |||||||
| chrX:108495314 | C | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44432C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495314 | |||||||
| chrX:108495315 | G | T | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44431G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495315 | |||||||
| chrX:108495316 | T | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44430T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495316 | |||||||
| chrX:108495321 | C | T | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44425C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495321 | |||||||
| chrX:108495322 | C | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44424C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495322 | |||||||
| chrX:108495327 | G | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44419G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495327 | |||||||
| chrX:108495328 | C | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44418C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495328 | |||||||
| chrX:108495329 | C | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44417C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495329 | |||||||
| chrX:108495334 | T | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44412T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495334 | |||||||
| chrX:108495335 | C | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44411C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495335 | |||||||
| chrX:108495337 | T | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44409T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495337 | |||||||
| chrX:108495342 | T | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44404T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495342 | |||||||
| chrX:108495345 | T | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44401T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495345 | |||||||
| chrX:108495346 | C | T | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44400C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495346 | |||||||
| chrX:108495348 | A | T | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44398A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495348 | |||||||
| chrX:108495353 | T | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44393T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495353 | |||||||
| chrX:108495359 | T | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44387T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495359 | |||||||
| chrX:108495360 | G | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44386G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495360 | |||||||
| chrX:108495361 | T | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44385T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495361 | |||||||
| chrX:108495363 | T | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44383T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495363 | |||||||
| chrX:108495366 | T | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44380T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495366 | |||||||
| chrX:108495367 | C | T | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44379C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495367 | |||||||
| chrX:108495369 | G | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44377G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495369 | |||||||
| chrX:108495371 | G | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44375G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495371 | |||||||
| chrX:108495375 | G | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44371G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495375 | |||||||
| chrX:108495380 | T | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44366T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495380 | |||||||
| chrX:108495381 | G | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44365G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495381 | |||||||
| chrX:108495382 | T | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44364T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495382 | |||||||
| chrX:108495389 | G | T | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44357G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495389 | |||||||
| chrX:108495391 | G | T | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44355G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495391 | |||||||
| chrX:108495394 | T | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44352T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495394 | |||||||
| chrX:108495395 | G | T | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44351G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495395 | |||||||
| chrX:108495400 | C | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44346C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495400 | |||||||
| chrX:108495402 | C | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44344C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495402 | |||||||
| chrX:108495405 | G | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44341G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495405 | |||||||
| chrX:108495406 | C | T | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-44340C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495406 | |||||||
| chrX:108495408 | A | G | 1 | a0001c0001t0001g0125 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.82-44338A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495408 | |||||||
| chrX:108495632 | A | G | 3 | a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0110 |
3 | HG00408.hp1 NA18973.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.82-44114A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495632 | |||||||
| chrX:108495773 | G | A | 1 | a0001c0003t0001g0226 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.82-43973G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495773 | |||||||
| chrX:108495878 | A | C | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-43868A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495878 | |||||||
| chrX:108495944 | G | A | 1 | a0001c0001t0001g0252 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.82-43802G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108495944 | |||||||
| chrX:108496185 | G | A | 1 | a0001c0001t0001g0175 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.82-43561G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108496185 | |||||||
| chrX:108496317 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-43429A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108496317 | |||||||
| chrX:108496607 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-43139G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108496607 | |||||||
| chrX:108496692 | C | T | 5 | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(2): Show |
5 | HG00408.hp2 HG02683.hp1 NA18945.hp1 others(2): Show |
intron_variant | MODIFIER | c.82-43054C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108496692 | |||||||
| chrX:108496807 | T | A | 1 | a0001c0001t0001g0109 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.82-42939T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108496807 | |||||||
| chrX:108496916 | T | G | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-42830T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108496916 | |||||||
| chrX:108497039 | A | G | 1 | a0002c0002t0001g0079 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.82-42707A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108497039 | |||||||
| chrX:108497117 | A | C | 2 | a0001c0001t0001g0213 a0001c0001t0001g0216 |
2 | HG01243.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.82-42629A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108497117 | |||||||
| chrX:108497436 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-42310C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108497436 | |||||||
| chrX:108497576 | C | A | 1 | a0001c0001t0001g0197 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.82-42170C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108497576 | |||||||
| chrX:108497981 | G | T | 1 | a0002c0008t0001g0078 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.82-41765G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108497981 | |||||||
| chrX:108498360 | A | G | 8 | a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0031 others(5): Show |
8 | HG02723.hp2 HG02818.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.82-41386A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108498360 | |||||||
| chrX:108498526 | A | G | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-41220A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108498526 | |||||||
| chrX:108498860 | G | C | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.82-40886G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108498860 | |||||||
| chrX:108498893 | G | A | 2 | a0001c0001t0001g0157 a0001c0001t0001g0166 |
2 | HG01169.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.82-40853G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108498893 | |||||||
| chrX:108498982 | T | C | 7 | a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 others(4): Show |
7 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.82-40764T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108498982 | |||||||
| chrX:108499006 | C | T | 1 | a0002c0002t0001g0035 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.82-40740C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108499006 | |||||||
| chrX:108499117 | T | C | 1 | a0002c0002t0001g0006 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.82-40629T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108499117 | |||||||
| chrX:108499336 | G | A | 1 | a0002c0008t0001g0078 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.82-40410G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108499336 | |||||||
| chrX:108499755 | C | T | 18 | a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0031 others(15): Show |
18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.82-39991C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108499755 | |||||||
| chrX:108500317 | A | G | 1 | a0001c0001t0001g0177 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.82-39429A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108500317 | |||||||
| chrX:108500450 | G | A | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-39296G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108500450 | |||||||
| chrX:108501105 | G | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-38641G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108501105 | |||||||
| chrX:108501583 | C | T | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-38163C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108501583 | |||||||
| chrX:108501762 | T | C | 1 | a0002c0002t0001g0036 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.82-37984T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108501762 | |||||||
| chrX:108501808 | T | C | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.82-37938T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108501808 | |||||||
| chrX:108501969 | TTC | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-37775_82-37774d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108501969 | ||||||
| chrX:108501991 | A | G | 1 | a0002c0002t0001g0072 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.82-37755A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108501991 | |||||||
| chrX:108502258 | A | AGTTTT | 17 | a0001c0001t0001g0046 a0001c0001t0001g0082 a0001c0001t0001g0085 others(14): Show |
17 | HG00558.hp2 HG00609.hp1 HG01256.hp1 others(14): Show |
intron_variant | MODIFIER | c.82-37452_82-37448d others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108502258 | ||||||
| chrX:108502258 | AGTTTT | A | 50 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0183 others(47): Show |
50 | HG00423.hp2 HG01975.hp2 HG01978.hp2 others(47): Show |
intron_variant | MODIFIER | c.82-37452_82-37448d others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108502258 | ||||||
| chrX:108502258 | AGTTTTGT others(3): Show |
A | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-37457_82-37448d others(12): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108502258 | ||||||
| chrX:108502258 | AGTTTTGT others(8): Show |
A | 1 | a0002c0002t0001g0079 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.82-37462_82-37448d others(17): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108502258 | ||||||
| chrX:108502367 | C | T | 3 | a0001c0001t0001g0207 a0001c0001t0010g0206 a0007c0010t0001g0209 |
3 | HG00099.hp2 HG03490.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.82-37379C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108502367 | |||||||
| chrX:108502406 | C | T | 1 | a0001c0001t0001g0152 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.82-37340C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108502406 | |||||||
| chrX:108503148 | T | C | 2 | a0004c0006t0001g0003 a0004c0006t0001g0251 |
3 | NA18988.hp1 NA18990.hp1 NA19003.hp1 |
intron_variant | MODIFIER | c.82-36598T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108503148 | |||||||
| chrX:108503201 | G | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-36545G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108503201 | |||||||
| chrX:108503314 | A | G | 1 | a0001c0001t0001g0135 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.82-36432A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108503314 | |||||||
| chrX:108503332 | C | T | 1 | a0001c0001t0001g0103 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.82-36414C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108503332 | |||||||
| chrX:108503693 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-36053T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108503693 | |||||||
| chrX:108503785 | G | A | 1 | a0001c0001t0001g0046 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.82-35961G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108503785 | |||||||
| chrX:108503891 | A | C | 1 | a0002c0002t0001g0036 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.82-35855A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108503891 | |||||||
| chrX:108504206 | C | T | 8 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(5): Show |
8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.82-35540C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108504206 | |||||||
| chrX:108504644 | A | G | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.82-35102A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108504644 | |||||||
| chrX:108504668 | G | T | 2 | a0001c0003t0001g0224 a0001c0003t0001g0225 |
2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.82-35078G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108504668 | |||||||
| chrX:108504682 | C | A | 1 | a0001c0001t0001g0259 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.82-35064C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108504682 | |||||||
| chrX:108504697 | T | C | 1 | a0001c0001t0001g0177 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.82-35049T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108504697 | |||||||
| chrX:108505252 | T | TA | 8 | a0001c0001t0001g0170 a0001c0001t0001g0185 a0001c0001t0001g0198 others(5): Show |
8 | HG00280.hp1 HG01167.hp1 HG01169.hp2 others(5): Show |
intron_variant | MODIFIER | c.82-34482dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108505252 | ||||||
| chrX:108505252 | TA | T | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(45): Show |
intron_variant | MODIFIER | c.82-34482delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108505252 | ||||||
| chrX:108505287 | A | G | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.82-34459A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108505287 | |||||||
| chrX:108505354 | A | G | 1 | a0001c0001t0001g0082 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.82-34392A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108505354 | |||||||
| chrX:108505572 | T | C | 1 | a0001c0001t0001g0236 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.82-34174T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108505572 | |||||||
| chrX:108505807 | G | A | 2 | a0001c0001t0001g0041 a0001c0001t0001g0047 |
2 | NA19055.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.82-33939G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108505807 | |||||||
| chrX:108506283 | G | A | 2 | a0001c0001t0001g0056 a0001c0001t0001g0059 |
2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.82-33463G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108506283 | |||||||
| chrX:108506341 | CATCT | C | 116 | a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0001t0001g0039 others(113): Show |
117 | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(114): Show |
intron_variant | MODIFIER | c.82-33359_82-33356d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108506341 | ||||||
| chrX:108506341 | CATCTATC others(1): Show |
C | 67 | a0001c0001t0001g0004 a0001c0001t0001g0052 a0001c0001t0001g0055 others(64): Show |
68 | HG00558.hp2 HG00609.hp1 HG00621.hp1 others(65): Show |
intron_variant | MODIFIER | c.82-33363_82-33356d others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108506341 | ||||||
| chrX:108506341 | CATCTATC others(5): Show |
C | 7 | a0001c0001t0001g0002 a0001c0001t0001g0046 a0001c0001t0001g0095 others(4): Show |
8 | HG00099.hp1 HG00673.hp1 HG01255.hp1 others(5): Show |
intron_variant | MODIFIER | c.82-33367_82-33356d others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108506341 | ||||||
| chrX:108506341 | CATCTATC others(9): Show |
C | 4 | a0001c0001t0001g0152 a0001c0001t0001g0192 a0001c0001t0001g0201 others(1): Show |
4 | HG00140.hp1 HG01123.hp2 HG01934.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-33371_82-33356d others(18): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108506341 | ||||||
| chrX:108506341 | CATCTATC others(13): Show |
C | 1 | a0002c0002t0001g0077 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.82-33375_82-33356d others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108506341 | ||||||
| chrX:108506571 | T | C | 1 | a0001c0001t0001g0158 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.82-33175T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108506571 | |||||||
| chrX:108506666 | G | A | 8 | a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 others(5): Show |
8 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.82-33080G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108506666 | |||||||
| chrX:108506711 | G | A | 2 | a0001c0001t0001g0160 a0001c0001t0001g0163 |
2 | HG02015.hp1 NA19084.hp2 |
intron_variant | MODIFIER | c.82-33035G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108506711 | |||||||
| chrX:108507098 | C | T | 2 | a0001c0001t0001g0198 a0001c0001t0001g0200 |
2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.82-32648C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507098 | |||||||
| chrX:108507165 | G | A | 1 | a0002c0002t0001g0034 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.82-32581G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507165 | |||||||
| chrX:108507247 | C | A | 1 | a0001c0001t0001g0059 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.82-32499C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507247 | |||||||
| chrX:108507250 | A | C | 2 | a0001c0001t0001g0113 a0001c0001t0001g0196 |
2 | HG01081.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.82-32496A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507250 | |||||||
| chrX:108507262 | G | A | 47 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(44): Show |
47 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(44): Show |
intron_variant | MODIFIER | c.82-32484G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507262 | |||||||
| chrX:108507262 | GA | G | 11 | a0001c0001t0001g0157 a0001c0001t0001g0228 a0001c0001t0001g0229 others(8): Show |
11 | HG02080.hp2 HG02165.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.82-32471delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108507262 | ||||||
| chrX:108507263 | A | G | 45 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 others(42): Show |
45 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(42): Show |
intron_variant | MODIFIER | c.82-32483A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507263 | |||||||
| chrX:108507314 | A | C | 2 | a0001c0001t0001g0111 a0001c0001t0001g0112 |
2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.82-32432A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507314 | |||||||
| chrX:108507350 | G | A | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-32396G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507350 | |||||||
| chrX:108507464 | C | T | 1 | a0001c0001t0001g0195 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.82-32282C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507464 | |||||||
| chrX:108507547 | G | A | 1 | a0005c0007t0001g0070 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.82-32199G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507547 | |||||||
| chrX:108507725 | G | A | 2 | a0001c0001t0001g0041 a0001c0001t0001g0047 |
2 | NA19055.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.82-32021G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507725 | |||||||
| chrX:108507758 | A | G | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.82-31988A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507758 | |||||||
| chrX:108507764 | C | T | 1 | a0002c0005t0002g0081 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.82-31982C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108507764 | |||||||
| chrX:108508211 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-31535C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108508211 | |||||||
| chrX:108508260 | C | G | 1 | a0006c0013t0001g0257 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.82-31486C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108508260 | |||||||
| chrX:108508557 | C | CA | 6 | a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0217 others(3): Show |
6 | HG00423.hp1 HG01074.hp1 HG03927.hp1 others(3): Show |
intron_variant | MODIFIER | c.82-31165dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108508557 | ||||||
| chrX:108508557 | C | CAA | 43 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(40): Show |
43 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(40): Show |
intron_variant | MODIFIER | c.82-31166_82-31165d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108508557 | ||||||
| chrX:108508557 | CA | C | 35 | a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0082 others(32): Show |
35 | HG01106.hp1 HG01109.hp1 HG01123.hp1 others(32): Show |
intron_variant | MODIFIER | c.82-31165delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108508557 | ||||||
| chrX:108508557 | CAA | C | 85 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(82): Show |
86 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(83): Show |
intron_variant | MODIFIER | c.82-31166_82-31165d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108508557 | ||||||
| chrX:108508896 | A | G | 1 | a0001c0001t0001g0243 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.82-30850A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108508896 | |||||||
| chrX:108509111 | A | G | 1 | a0001c0001t0001g0086 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.82-30635A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108509111 | |||||||
| chrX:108509212 | A | G | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-30534A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108509212 | |||||||
| chrX:108509305 | G | A | 1 | a0001c0001t0001g0124 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.82-30441G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108509305 | |||||||
| chrX:108509326 | G | T | 4 | a0001c0001t0001g0170 a0001c0001t0001g0253 a0001c0001t0001g0254 others(1): Show |
4 | HG02559.hp2 HG02970.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-30420G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108509326 | |||||||
| chrX:108509346 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-30400C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108509346 | |||||||
| chrX:108509970 | C | G | 1 | a0001c0001t0001g0186 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.82-29776C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108509970 | |||||||
| chrX:108510184 | A | T | 1 | a0001c0001t0001g0056 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.82-29562A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108510184 | |||||||
| chrX:108510274 | A | C | 1 | a0001c0001t0001g0246 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.82-29472A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108510274 | |||||||
| chrX:108510275 | C | A | 1 | a0001c0001t0001g0246 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.82-29471C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108510275 | |||||||
| chrX:108510469 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-29277C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108510469 | |||||||
| chrX:108510506 | C | T | 1 | a0001c0001t0001g0186 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.82-29240C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108510506 | |||||||
| chrX:108510741 | G | T | 1 | a0001c0003t0007g0223 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.82-29005G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108510741 | |||||||
| chrX:108510763 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-28983A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108510763 | |||||||
| chrX:108510843 | T | A | 2 | a0001c0001t0001g0055 a0001c0001t0004g0054 |
2 | HG02897.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.82-28903T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108510843 | |||||||
| chrX:108510864 | C | CAAAT | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-28880_82-28879i others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108510864 | ||||||
| chrX:108511421 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-28325T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108511421 | |||||||
| chrX:108511446 | G | T | 2 | a0002c0002t0001g0065 a0002c0002t0001g0066 |
2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.82-28300G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108511446 | |||||||
| chrX:108511464 | C | T | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-28282C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108511464 | |||||||
| chrX:108511953 | T | C | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.82-27793T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108511953 | |||||||
| chrX:108512319 | A | G | 1 | a0001c0003t0007g0223 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.82-27427A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108512319 | |||||||
| chrX:108512497 | T | C | 1 | a0001c0001t0001g0093 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.82-27249T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108512497 | |||||||
| chrX:108512532 | A | T | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-27214A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108512532 | |||||||
| chrX:108512552 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-27194G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108512552 | |||||||
| chrX:108512693 | C | T | 1 | a0001c0001t0001g0175 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.82-27053C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108512693 | |||||||
| chrX:108513223 | A | G | 181 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(178): Show |
182 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(179): Show |
intron_variant | MODIFIER | c.82-26523A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108513223 | |||||||
| chrX:108513229 | C | T | 1 | a0002c0002t0001g0080 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.82-26517C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108513229 | |||||||
| chrX:108513334 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-26412A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108513334 | |||||||
| chrX:108513529 | A | G | 2 | a0005c0007t0001g0068 a0005c0007t0001g0070 |
2 | HG02523.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.82-26217A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108513529 | |||||||
| chrX:108513785 | CAA | C | 47 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(44): Show |
47 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(44): Show |
intron_variant | MODIFIER | c.82-25960_82-25959d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108513785 | |||||||
| chrX:108513941 | G | A | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.82-25805G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108513941 | |||||||
| chrX:108513980 | T | C | 1 | a0001c0001t0001g0152 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.82-25766T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108513980 | |||||||
| chrX:108514132 | C | A | 1 | a0001c0001t0001g0250 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.82-25614C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108514132 | |||||||
| chrX:108514209 | C | G | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.82-25537C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108514209 | |||||||
| chrX:108514596 | T | C | 1 | a0001c0001t0001g0228 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.82-25150T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108514596 | |||||||
| chrX:108514620 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-25126G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108514620 | |||||||
| chrX:108514624 | T | C | 1 | a0001c0001t0001g0110 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.82-25122T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108514624 | |||||||
| chrX:108514839 | T | C | 1 | a0011c0012t0001g0128 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.82-24907T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108514839 | |||||||
| chrX:108515128 | A | G | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.82-24618A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108515128 | |||||||
| chrX:108516284 | C | T | 2 | a0002c0002t0001g0065 a0002c0002t0001g0066 |
2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.82-23462C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108516284 | |||||||
| chrX:108516640 | A | G | 1 | a0005c0007t0001g0068 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.82-23106A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108516640 | |||||||
| chrX:108516642 | T | G | 1 | a0005c0007t0001g0068 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.82-23104T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108516642 | |||||||
| chrX:108516649 | A | G | 1 | a0001c0001t0001g0243 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.82-23097A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108516649 | |||||||
| chrX:108516699 | C | A | 1 | a0001c0003t0007g0223 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.82-23047C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108516699 | |||||||
| chrX:108516893 | T | C | 1 | a0001c0001t0001g0124 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.82-22853T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108516893 | |||||||
| chrX:108516901 | G | A | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.82-22845G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108516901 | |||||||
| chrX:108517749 | A | G | 6 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(3): Show |
6 | HG01106.hp1 HG01884.hp2 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.82-21997A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108517749 | |||||||
| chrX:108517876 | T | C | 2 | a0001c0001t0001g0056 a0001c0001t0001g0059 |
2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.82-21870T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108517876 | |||||||
| chrX:108518448 | C | T | 1 | a0001c0001t0001g0204 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.82-21298C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108518448 | |||||||
| chrX:108518576 | G | A | 8 | a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0031 others(5): Show |
8 | HG02723.hp2 HG02818.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.82-21170G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108518576 | |||||||
| chrX:108518863 | C | T | 2 | a0001c0001t0001g0050 a0001c0001t0001g0051 |
2 | HG02071.hp1 HG02165.hp1 |
intron_variant | MODIFIER | c.82-20883C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108518863 | |||||||
| chrX:108518876 | G | A | 125 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(122): Show |
126 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(123): Show |
intron_variant | MODIFIER | c.82-20870G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108518876 | |||||||
| chrX:108519054 | T | C | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.82-20692T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108519054 | |||||||
| chrX:108519353 | T | C | 4 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0249 others(1): Show |
4 | HG02109.hp2 HG02486.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-20393T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108519353 | |||||||
| chrX:108519359 | T | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-20387T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108519359 | |||||||
| chrX:108520047 | G | C | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-19699G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108520047 | |||||||
| chrX:108520308 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-19438T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108520308 | |||||||
| chrX:108520344 | G | A | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-19402G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108520344 | |||||||
| chrX:108520409 | C | T | 3 | a0002c0002t0001g0009 a0002c0002t0001g0017 a0002c0002t0001g0018 |
3 | NA18949.hp1 NA18967.hp1 NA18998.hp2 |
intron_variant | MODIFIER | c.82-19337C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108520409 | |||||||
| chrX:108520439 | A | G | 1 | a0001c0001t0001g0253 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.82-19307A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108520439 | |||||||
| chrX:108520574 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-19172C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108520574 | |||||||
| chrX:108520574 | CCT | C | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.82-19171_82-19170d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108520574 | |||||||
| chrX:108520578 | T | C | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-19168T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108520578 | |||||||
| chrX:108520698 | A | T | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-19048A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108520698 | |||||||
| chrX:108521103 | A | G | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-18643A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108521103 | |||||||
| chrX:108521264 | A | G | 1 | a0001c0001t0001g0042 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.82-18482A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108521264 | |||||||
| chrX:108521530 | TCTTCTAT others(23): Show |
T | 1 | a0001c0001t0001g0262 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.82-18215_82-18186d others(32): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108521530 | |||||||
| chrX:108521535 | T | C | 1 | a0001c0001t0001g0239 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.82-18211T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108521535 | |||||||
| chrX:108521791 | C | T | 1 | a0001c0001t0001g0110 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.82-17955C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108521791 | |||||||
| chrX:108522362 | G | A | 8 | a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 others(5): Show |
8 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.82-17384G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108522362 | |||||||
| chrX:108522364 | C | T | 1 | a0001c0001t0001g0124 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.82-17382C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108522364 | |||||||
| chrX:108522737 | T | C | 1 | a0001c0001t0001g0083 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.82-17009T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108522737 | |||||||
| chrX:108522755 | G | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-16991G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108522755 | |||||||
| chrX:108522866 | TA | T | 182 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(179): Show |
183 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(180): Show |
intron_variant | MODIFIER | c.82-16870delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108522866 | ||||||
| chrX:108522880 | CT | C | 18 | a0001c0003t0001g0222 a0002c0002t0001g0006 a0002c0002t0001g0030 others(15): Show |
18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.82-16851delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108522880 | ||||||
| chrX:108522978 | A | G | 1 | a0001c0001t0001g0245 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.82-16768A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108522978 | |||||||
| chrX:108523027 | G | A | 8 | a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0155 others(5): Show |
8 | HG02559.hp2 HG02723.hp1 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.82-16719G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108523027 | |||||||
| chrX:108523236 | A | T | 1 | a0001c0001t0001g0165 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.82-16510A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108523236 | |||||||
| chrX:108523451 | C | T | 1 | a0001c0001t0001g0159 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.82-16295C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108523451 | |||||||
| chrX:108523535 | G | A | 1 | a0001c0001t0001g0211 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.82-16211G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108523535 | |||||||
| chrX:108523952 | T | G | 1 | a0002c0002t0001g0076 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.82-15794T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108523952 | |||||||
| chrX:108524108 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-15638A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108524108 | |||||||
| chrX:108524305 | T | G | 1 | a0001c0001t0001g0263 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.82-15441T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108524305 | |||||||
| chrX:108524539 | T | C | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-15207T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108524539 | |||||||
| chrX:108524784 | T | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-14962T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108524784 | |||||||
| chrX:108524813 | G | C | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-14933G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108524813 | |||||||
| chrX:108524879 | A | C | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-14867A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108524879 | |||||||
| chrX:108525073 | G | C | 183 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(180): Show |
184 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(181): Show |
intron_variant | MODIFIER | c.82-14673G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108525073 | |||||||
| chrX:108525133 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-14613T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108525133 | |||||||
| chrX:108525136 | T | C | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.82-14610T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108525136 | |||||||
| chrX:108525437 | C | A | 18 | a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0031 others(15): Show |
18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.82-14309C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108525437 | |||||||
| chrX:108525603 | T | G | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-14143T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108525603 | |||||||
| chrX:108525690 | G | A | 1 | a0001c0001t0001g0113 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.82-14056G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108525690 | |||||||
| chrX:108525701 | C | A | 2 | a0001c0001t0001g0127 a0001c0001t0001g0176 |
2 | HG02630.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.82-14045C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108525701 | |||||||
| chrX:108526271 | T | C | 2 | a0001c0001t0001g0056 a0001c0001t0001g0059 |
2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.82-13475T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526271 | |||||||
| chrX:108526364 | C | A | 55 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(52): Show |
55 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(52): Show |
intron_variant | MODIFIER | c.82-13382C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526364 | |||||||
| chrX:108526517 | CTTCT | C | 3 | a0001c0001t0001g0195 a0001c0001t0001g0242 a0002c0005t0003g0037 |
3 | HG00735.hp1 HG01071.hp1 HG02080.hp2 |
intron_variant | MODIFIER | c.82-13216_82-13213d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526517 | ||||||
| chrX:108526520 | C | T | 1 | a0002c0002t0001g0061 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.82-13226C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526520 | |||||||
| chrX:108526571 | TCCTC | T | 7 | a0001c0001t0001g0211 a0002c0002t0001g0006 a0002c0002t0001g0018 others(4): Show |
7 | HG02080.hp2 HG02109.hp2 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.82-13153_82-13150d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526571 | ||||||
| chrX:108526589 | CTCCCTCC others(1): Show |
C | 12 | a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0032 others(9): Show |
12 | HG01975.hp2 HG01978.hp2 HG02109.hp1 others(9): Show |
intron_variant | MODIFIER | c.82-13155_82-13148d others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526589 | ||||||
| chrX:108526589 | CTCCCTCC others(5): Show |
C | 6 | a0002c0002t0001g0007 a0002c0002t0001g0013 a0002c0002t0001g0022 others(3): Show |
6 | HG02922.hp2 HG03041.hp2 NA18951.hp1 others(3): Show |
intron_variant | MODIFIER | c.82-13155_82-13144d others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526589 | ||||||
| chrX:108526589 | CTCCCTCC others(9): Show |
C | 7 | a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0027 others(4): Show |
7 | HG02165.hp2 HG03130.hp1 NA18612.hp1 others(4): Show |
intron_variant | MODIFIER | c.82-13155_82-13140d others(18): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526589 | ||||||
| chrX:108526589 | CTCCCTCC others(13): Show |
C | 3 | a0002c0002t0001g0017 a0002c0002t0001g0026 a0002c0002t0001g0067 |
3 | NA18960.hp1 NA18967.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.82-13155_82-13136d others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526589 | ||||||
| chrX:108526589 | CTCCCTCC others(17): Show |
C | 7 | a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0023 others(4): Show |
7 | HG02155.hp2 HG02257.hp2 HG03453.hp1 others(4): Show |
intron_variant | MODIFIER | c.82-13155_82-13132d others(26): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526589 | ||||||
| chrX:108526589 | CTCCCTCC others(21): Show |
C | 6 | a0002c0002t0001g0008 a0002c0002t0001g0016 a0002c0002t0001g0019 others(3): Show |
6 | HG02083.hp1 HG03491.hp1 HG03492.hp1 others(3): Show |
intron_variant | MODIFIER | c.82-13155_82-13128d others(30): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526589 | ||||||
| chrX:108526591 | C | T | 2 | a0002c0002t0001g0062 a0002c0008t0001g0078 |
2 | HG03098.hp1 NA18944.hp1 |
intron_variant | MODIFIER | c.82-13155C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526591 | |||||||
| chrX:108526593 | C | T | 2 | a0002c0002t0001g0062 a0002c0008t0001g0078 |
2 | HG03098.hp1 NA18944.hp1 |
intron_variant | MODIFIER | c.82-13153C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526593 | |||||||
| chrX:108526593 | CTCCT | C | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-13151_82-13148d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526593 | ||||||
| chrX:108526593 | CTCCTTTC others(5): Show |
C | 2 | a0002c0005t0001g0071 a0005c0007t0001g0070 |
2 | HG02055.hp1 HG02523.hp1 |
intron_variant | MODIFIER | c.82-13151_82-13140d others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526593 | ||||||
| chrX:108526595 | C | CCTTT | 12 | a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0048 others(9): Show |
12 | HG00408.hp2 HG00609.hp1 HG00735.hp2 others(9): Show |
intron_variant | MODIFIER | c.82-13087_82-13084d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526595 | ||||||
| chrX:108526595 | C | CCTTTCTT others(19): Show |
1 | a0001c0001t0001g0262 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.82-13142_82-13141i others(28): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526595 | ||||||
| chrX:108526595 | C | CCTTTCTT others(5): Show |
1 | a0001c0001t0001g0173 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.82-13095_82-13084d others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526595 | ||||||
| chrX:108526595 | C | T | 8 | a0002c0002t0001g0006 a0002c0002t0001g0018 a0002c0002t0001g0021 others(5): Show |
8 | HG02451.hp1 HG02970.hp2 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.82-13151C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526595 | |||||||
| chrX:108526595 | CCTTT | C | 28 | a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0082 others(25): Show |
28 | HG00423.hp2 HG00558.hp1 HG01071.hp1 others(25): Show |
intron_variant | MODIFIER | c.82-13087_82-13084d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526595 | ||||||
| chrX:108526595 | CCTTTCTT others(1): Show |
C | 21 | a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0056 others(18): Show |
21 | HG00408.hp1 HG01258.hp1 HG01515.hp1 others(18): Show |
intron_variant | MODIFIER | c.82-13091_82-13084d others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526595 | ||||||
| chrX:108526595 | CCTTTCTT others(5): Show |
C | 9 | a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0154 others(6): Show |
9 | HG00099.hp1 HG01884.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.82-13095_82-13084d others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526595 | ||||||
| chrX:108526595 | CCTTTCTT others(9): Show |
C | 4 | a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0245 others(1): Show |
4 | HG02145.hp1 HG03579.hp1 NA18973.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-13099_82-13084d others(18): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526595 | ||||||
| chrX:108526595 | CCTTTCTT others(17): Show |
C | 1 | a0001c0001t0001g0255 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.82-13107_82-13084d others(26): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526595 | ||||||
| chrX:108526597 | T | C | 9 | a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0124 others(6): Show |
9 | HG00099.hp2 HG00733.hp2 HG01081.hp1 others(6): Show |
intron_variant | MODIFIER | c.82-13149T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526597 | |||||||
| chrX:108526601 | T | C | 2 | a0001c0001t0001g0126 a0001c0001t0001g0167 |
2 | HG02723.hp1 HG03491.hp2 |
intron_variant | MODIFIER | c.82-13145T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526601 | |||||||
| chrX:108526605 | T | C | 4 | a0001c0001t0001g0056 a0001c0001t0001g0135 a0001c0001t0001g0155 others(1): Show |
4 | HG02976.hp2 HG03453.hp2 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-13141T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526605 | |||||||
| chrX:108526607 | T | C | 2 | a0001c0003t0001g0224 a0001c0003t0001g0225 |
2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.82-13139T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526607 | |||||||
| chrX:108526611 | T | C | 2 | a0001c0003t0001g0224 a0001c0003t0001g0225 |
2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.82-13135T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526611 | |||||||
| chrX:108526636 | CT | C | 3 | a0001c0001t0001g0125 a0001c0001t0001g0253 a0001c0001t0001g0254 |
3 | HG01109.hp1 HG02970.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.82-13107delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526636 | ||||||
| chrX:108526636 | CTTTCTTT others(6): Show |
C | 1 | a0001c0001t0001g0046 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.82-13107_82-13095d others(15): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526636 | ||||||
| chrX:108526644 | CT | C | 3 | a0001c0001t0001g0170 a0001c0001t0001g0192 a0001c0003t0001g0227 |
3 | HG00140.hp1 HG02258.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.82-13099delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526644 | ||||||
| chrX:108526648 | CT | C | 5 | a0001c0001t0001g0102 a0001c0001t0001g0146 a0001c0001t0001g0201 others(2): Show |
5 | HG00642.hp1 HG00733.hp1 HG01123.hp2 others(2): Show |
intron_variant | MODIFIER | c.82-13095delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526648 | ||||||
| chrX:108526648 | CTTTCTTT others(20): Show |
C | 2 | a0001c0001t0001g0253 a0002c0002t0001g0065 |
2 | HG02970.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.82-13096_82-13070d others(29): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526648 | ||||||
| chrX:108526648 | CTTTCTTT others(24): Show |
C | 2 | a0001c0001t0001g0125 a0001c0001t0001g0254 |
2 | HG01109.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.82-13096_82-13066d others(33): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526648 | ||||||
| chrX:108526648 | CTTTCTTT others(36): Show |
C | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-13096_82-13054d others(45): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526648 | ||||||
| chrX:108526649 | T | TTTC | 3 | a0001c0001t0001g0052 a0001c0001t0001g0103 a0001c0001t0001g0147 |
3 | HG02135.hp1 NA18962.hp1 NA18973.hp2 |
intron_variant | MODIFIER | c.82-13094_82-13092d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526649 | ||||||
| chrX:108526652 | C | T | 1 | a0001c0001t0001g0083 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.82-13094C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526652 | |||||||
| chrX:108526652 | CTTTCTTT others(15): Show |
C | 5 | a0001c0001t0001g0249 a0001c0003t0001g0057 a0001c0003t0001g0218 others(2): Show |
5 | HG01106.hp1 HG01884.hp2 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.82-13091_82-13070d others(24): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526652 | ||||||
| chrX:108526652 | CTTTCTTT others(19): Show |
C | 1 | a0001c0001t0008g0187 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.82-13091_82-13066d others(28): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526652 | ||||||
| chrX:108526653 | T | C | 1 | a0001c0001t0001g0083 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.82-13093T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526653 | |||||||
| chrX:108526653 | TTTCTTTC others(11): Show |
T | 3 | a0001c0001t0001g0194 a0001c0001t0005g0193 a0001c0001t0010g0206 |
3 | HG00099.hp2 HG01074.hp1 HG01433.hp1 |
intron_variant | MODIFIER | c.82-13091_82-13074d others(20): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526653 | ||||||
| chrX:108526656 | CTTTCTTC others(11): Show |
C | 1 | a0001c0003t0001g0058 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.82-13087_82-13070d others(20): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526656 | ||||||
| chrX:108526656 | CTTTCTTC others(15): Show |
C | 3 | a0001c0001t0009g0190 a0001c0003t0001g0221 a0001c0003t0001g0222 |
3 | HG02965.hp1 HG03927.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.82-13087_82-13066d others(24): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526656 | ||||||
| chrX:108526656 | CTTTCTTC others(16): Show |
C | 3 | a0001c0001t0001g0170 a0002c0002t0001g0033 a0002c0002t0001g0060 |
3 | HG02109.hp1 HG02818.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.82-13088_82-13066d others(25): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526656 | ||||||
| chrX:108526656 | CTTTCTTC others(20): Show |
C | 1 | a0001c0001t0001g0192 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.82-13088_82-13062d others(29): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526656 | ||||||
| chrX:108526656 | CTTTCTTC others(24): Show |
C | 2 | a0001c0003t0001g0227 a0002c0002t0001g0061 |
2 | HG02258.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.82-13088_82-13058d others(33): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526656 | ||||||
| chrX:108526657 | T | TTTCTTTC others(3): Show |
1 | a0001c0001t0001g0149 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.82-13084_82-13083i others(12): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526657 | ||||||
| chrX:108526657 | TTTC | T | 29 | a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0053 others(26): Show |
29 | HG00733.hp2 HG01978.hp2 HG02071.hp1 others(26): Show |
intron_variant | MODIFIER | c.82-13083_82-13081d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526657 | ||||||
| chrX:108526657 | TTTCTTCT others(7): Show |
T | 3 | a0001c0001t0001g0059 a0001c0001t0001g0210 a0001c0001t0001g0213 |
3 | HG01243.hp1 HG02486.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.82-13087_82-13074d others(16): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526657 | ||||||
| chrX:108526658 | T | C | 2 | a0002c0002t0001g0007 a0002c0002t0001g0009 |
2 | NA18949.hp1 NA18951.hp1 |
intron_variant | MODIFIER | c.82-13088T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526658 | |||||||
| chrX:108526659 | T | C | 11 | a0001c0001t0001g0087 a0001c0001t0001g0111 a0001c0001t0001g0112 others(8): Show |
11 | HG00621.hp1 HG01069.hp1 HG01071.hp2 others(8): Show |
intron_variant | MODIFIER | c.82-13087T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526659 | |||||||
| chrX:108526660 | C | CT | 14 | a0001c0001t0001g0044 a0001c0001t0001g0088 a0001c0001t0001g0098 others(11): Show |
14 | HG00280.hp1 HG00438.hp1 HG00738.hp1 others(11): Show |
intron_variant | MODIFIER | c.82-13084dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526660 | ||||||
| chrX:108526660 | C | CTTTCT | 4 | a0001c0001t0001g0045 a0001c0001t0001g0238 a0001c0011t0001g0084 others(1): Show |
4 | HG01099.hp1 HG04184.hp1 NA18947.hp2 others(1): Show |
intron_variant | MODIFIER | c.82-13084_82-13083i others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526660 | ||||||
| chrX:108526660 | C | T | 12 | a0001c0001t0001g0087 a0001c0001t0001g0111 a0001c0001t0001g0112 others(9): Show |
12 | HG00621.hp1 HG01069.hp1 HG01071.hp2 others(9): Show |
intron_variant | MODIFIER | c.82-13086C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526660 | |||||||
| chrX:108526660 | CT | C | 13 | a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0083 others(10): Show |
13 | HG01975.hp2 HG02135.hp1 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.82-13084delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526660 | ||||||
| chrX:108526660 | CTTCTT | C | 11 | a0001c0001t0001g0097 a0001c0001t0001g0102 a0002c0002t0001g0012 others(8): Show |
11 | HG00642.hp1 HG02129.hp1 HG02165.hp2 others(8): Show |
intron_variant | MODIFIER | c.82-13084_82-13080d others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526660 | ||||||
| chrX:108526660 | CTTCTTTC others(8): Show |
C | 2 | a0002c0002t0001g0031 a0002c0002t0001g0035 |
2 | HG02723.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.82-13084_82-13070d others(17): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526660 | ||||||
| chrX:108526660 | CTTCTTTC others(16): Show |
C | 3 | a0001c0001t0001g0146 a0001c0001t0001g0201 a0001c0001t0001g0216 |
3 | HG00733.hp1 HG01123.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.82-13084_82-13062d others(25): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526660 | ||||||
| chrX:108526661 | T | C | 1 | a0002c0002t0001g0009 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.82-13085T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526661 | |||||||
| chrX:108526661 | T | TTTCTTTC others(4): Show |
1 | a0001c0001t0001g0090 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.82-13084_82-13083i others(13): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526661 | ||||||
| chrX:108526662 | TCTTTCTT others(2): Show |
T | 3 | a0002c0002t0001g0018 a0002c0002t0001g0021 a0002c0002t0001g0066 |
3 | HG02622.hp2 NA18941.hp1 NA18998.hp2 |
intron_variant | MODIFIER | c.82-13083_82-13075d others(11): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526662 | |||||||
| chrX:108526662 | TCTTTCTT others(4): Show |
T | 1 | a0002c0002t0001g0032 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.82-13083_82-13073d others(13): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526662 | |||||||
| chrX:108526663 | C | T | 9 | a0001c0001t0001g0040 a0001c0001t0001g0090 a0001c0001t0001g0106 others(6): Show |
9 | HG01081.hp2 HG01981.hp2 HG02074.hp1 others(6): Show |
intron_variant | MODIFIER | c.82-13083C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526663 | |||||||
| chrX:108526664 | T | C | 8 | a0001c0001t0001g0040 a0001c0001t0001g0106 a0001c0001t0001g0113 others(5): Show |
8 | HG01081.hp2 HG01981.hp2 HG02074.hp1 others(5): Show |
intron_variant | MODIFIER | c.82-13082T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526664 | |||||||
| chrX:108526664 | T | TTTC | 6 | a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0160 others(3): Show |
6 | HG00280.hp1 HG00738.hp1 HG03942.hp1 others(3): Show |
intron_variant | MODIFIER | c.82-13079_82-13077d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526664 | ||||||
| chrX:108526665 | T | TTC | 3 | a0001c0001t0001g0112 a0001c0001t0001g0139 a0001c0001t0001g0185 |
3 | HG01071.hp2 NA18993.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.82-13079_82-13078d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526665 | ||||||
| chrX:108526667 | CTTTCTCT others(5): Show |
C | 1 | a0004c0006t0001g0003 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.82-13077_82-13066d others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526667 | ||||||
| chrX:108526668 | TTTC | T | 6 | a0001c0001t0001g0053 a0001c0001t0001g0191 a0001c0001t0001g0202 others(3): Show |
6 | HG00733.hp2 NA18943.hp1 NA18944.hp1 others(3): Show |
intron_variant | MODIFIER | c.82-13076_82-13074d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526668 | ||||||
| chrX:108526669 | T | C | 16 | a0001c0001t0001g0051 a0001c0001t0001g0087 a0001c0001t0001g0111 others(13): Show |
16 | HG00621.hp1 HG01069.hp1 HG01123.hp1 others(13): Show |
intron_variant | MODIFIER | c.82-13077T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526669 | |||||||
| chrX:108526669 | T | TC | 3 | a0001c0001t0001g0107 a0001c0001t0001g0186 a0001c0001t0001g0217 |
3 | HG04115.hp1 NA19075.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.82-13077_82-13076i others(3): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526669 | |||||||
| chrX:108526669 | TTC | T | 31 | a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0052 others(28): Show |
31 | HG00642.hp1 HG01975.hp2 HG01981.hp2 others(28): Show |
intron_variant | MODIFIER | c.82-13073_82-13072d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526669 | ||||||
| chrX:108526671 | C | CTCTT | 16 | a0001c0001t0001g0002 a0001c0001t0001g0050 a0001c0001t0001g0095 others(13): Show |
16 | HG00408.hp2 HG00438.hp2 HG01169.hp1 others(13): Show |
intron_variant | MODIFIER | c.82-13022_82-13019d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526671 | ||||||
| chrX:108526671 | C | CTCTTTCT others(1): Show |
3 | a0001c0001t0001g0148 a0001c0001t0001g0246 a0009c0015t0001g0181 |
3 | HG04184.hp2 NA18940.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.82-13026_82-13019d others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526671 | ||||||
| chrX:108526671 | C | CTT | 3 | a0001c0001t0001g0112 a0001c0001t0001g0139 a0001c0001t0001g0185 |
3 | HG01071.hp2 NA18993.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.82-13074_82-13073i others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526671 | ||||||
| chrX:108526671 | C | T | 19 | a0001c0001t0001g0051 a0001c0001t0001g0087 a0001c0001t0001g0107 others(16): Show |
19 | HG00621.hp1 HG01069.hp1 HG01123.hp1 others(16): Show |
intron_variant | MODIFIER | c.82-13075C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526671 | |||||||
| chrX:108526671 | CTCTT | C | 43 | a0001c0001t0001g0004 a0001c0001t0001g0043 a0001c0001t0001g0047 others(40): Show |
44 | HG00099.hp1 HG00423.hp2 HG00558.hp1 others(41): Show |
intron_variant | MODIFIER | c.82-13022_82-13019d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526671 | ||||||
| chrX:108526671 | CTCTTTCT others(1): Show |
C | 20 | a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0082 others(17): Show |
20 | HG01071.hp1 HG01358.hp1 HG01515.hp1 others(17): Show |
intron_variant | MODIFIER | c.82-13026_82-13019d others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526671 | ||||||
| chrX:108526671 | CTCTTTCT others(5): Show |
C | 4 | a0001c0001t0001g0189 a0001c0001t0001g0211 a0001c0001t0001g0242 others(1): Show |
4 | HG00735.hp1 HG02109.hp2 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-13030_82-13019d others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526671 | ||||||
| chrX:108526671 | CTCTTTCT others(9): Show |
C | 2 | a0001c0001t0001g0005 a0001c0001t0001g0197 |
2 | HG00423.hp1 HG02056.hp1 |
intron_variant | MODIFIER | c.82-13034_82-13019d others(18): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526671 | ||||||
| chrX:108526671 | CTCTTTCT others(13): Show |
C | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-13038_82-13019d others(22): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526671 | ||||||
| chrX:108526673 | C | T | 11 | a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0106 others(8): Show |
11 | HG00280.hp1 HG00738.hp1 HG01081.hp2 others(8): Show |
intron_variant | MODIFIER | c.82-13073C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526673 | |||||||
| chrX:108526675 | T | C | 12 | a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0106 others(9): Show |
12 | HG00280.hp1 HG00738.hp1 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.82-13071T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526675 | |||||||
| chrX:108526677 | CTT | C | 5 | a0001c0001t0001g0040 a0001c0001t0001g0174 a0001c0001t0001g0186 others(2): Show |
5 | HG01981.hp2 HG02074.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.82-13067_82-13066d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526677 | ||||||
| chrX:108526681 | CTT | C | 13 | a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0191 others(10): Show |
13 | HG00099.hp2 HG00733.hp2 HG01074.hp1 others(10): Show |
intron_variant | MODIFIER | c.82-13063_82-13062d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526681 | ||||||
| chrX:108526685 | CTT | C | 6 | a0001c0001t0001g0249 a0001c0003t0001g0057 a0001c0003t0001g0058 others(3): Show |
6 | HG01106.hp1 HG01884.hp2 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.82-13059_82-13058d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526685 | ||||||
| chrX:108526689 | CTT | C | 4 | a0001c0001t0008g0187 a0001c0001t0009g0190 a0001c0003t0001g0221 others(1): Show |
4 | HG02683.hp2 HG02965.hp1 HG03927.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-13055_82-13054d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526689 | ||||||
| chrX:108526726 | T | C | 1 | a0001c0001t0001g0161 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.82-13020T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526726 | |||||||
| chrX:108526729 | C | T | 4 | a0001c0001t0001g0142 a0001c0001t0001g0171 a0001c0001t0001g0182 others(1): Show |
4 | HG00735.hp2 HG01123.hp1 HG01981.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-13017C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526729 | |||||||
| chrX:108526817 | GAGTGCAG others(6): Show |
G | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-12927_82-12915d others(15): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108526817 | ||||||
| chrX:108526821 | G | T | 14 | a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0140 others(11): Show |
14 | HG00558.hp1 HG00735.hp2 HG01123.hp1 others(11): Show |
intron_variant | MODIFIER | c.82-12925G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108526821 | |||||||
| chrX:108527018 | C | T | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.82-12728C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108527018 | |||||||
| chrX:108527093 | G | A | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.82-12653G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108527093 | |||||||
| chrX:108527203 | G | T | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-12543G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108527203 | |||||||
| chrX:108527206 | T | C | 3 | a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 |
3 | HG02559.hp2 HG02970.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.82-12540T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108527206 | |||||||
| chrX:108527221 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-12525T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108527221 | |||||||
| chrX:108527453 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-12293A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108527453 | |||||||
| chrX:108527698 | C | T | 222 | a0001c0001t0001g0005 a0001c0001t0001g0040 a0001c0001t0001g0041 others(219): Show |
223 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(220): Show |
intron_variant | MODIFIER | c.82-12048C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108527698 | |||||||
| chrX:108527733 | T | C | 1 | a0001c0001t0001g0183 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.82-12013T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108527733 | |||||||
| chrX:108527808 | G | A | 1 | a0001c0001t0001g0137 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.82-11938G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108527808 | |||||||
| chrX:108527928 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-11818A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108527928 | |||||||
| chrX:108528871 | C | A | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.82-10875C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108528871 | |||||||
| chrX:108529336 | A | G | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.82-10410A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108529336 | |||||||
| chrX:108529435 | A | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-10311A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108529435 | |||||||
| chrX:108529622 | T | A | 2 | a0001c0001t0001g0127 a0001c0001t0001g0176 |
2 | HG02630.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.82-10124T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108529622 | |||||||
| chrX:108529846 | C | G | 1 | a0001c0001t0001g0195 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.82-9900C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108529846 | |||||||
| chrX:108529847 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-9899C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108529847 | |||||||
| chrX:108530081 | A | T | 1 | a0001c0001t0001g0127 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.82-9665A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108530081 | |||||||
| chrX:108530252 | T | C | 2 | a0001c0001t0001g0195 a0001c0001t0001g0242 |
2 | HG00735.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.82-9494T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108530252 | |||||||
| chrX:108530540 | G | A | 1 | a0002c0002t0001g0027 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.82-9206G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108530540 | |||||||
| chrX:108530541 | C | T | 1 | a0001c0001t0001g0184 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.82-9205C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108530541 | |||||||
| chrX:108530761 | C | T | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.82-8985C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108530761 | |||||||
| chrX:108530843 | A | G | 1 | a0001c0001t0001g0240 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.82-8903A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108530843 | |||||||
| chrX:108530875 | C | T | 1 | a0004c0006t0001g0003 | 2 | NA18988.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.82-8871C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108530875 | |||||||
| chrX:108530922 | T | C | 3 | a0001c0001t0001g0151 a0001c0001t0008g0187 a0001c0001t0009g0190 |
3 | HG02683.hp2 HG03927.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.82-8824T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108530922 | |||||||
| chrX:108530923 | G | A | 2 | a0001c0001t0008g0187 a0001c0001t0009g0190 |
2 | HG02683.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.82-8823G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108530923 | |||||||
| chrX:108530979 | A | G | 3 | a0001c0001t0001g0039 a0001c0001t0001g0090 a0001c0001t0001g0099 |
3 | HG01978.hp1 NA19009.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.82-8767A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108530979 | |||||||
| chrX:108531009 | C | T | 1 | a0001c0001t0001g0124 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.82-8737C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108531009 | |||||||
| chrX:108531221 | A | G | 2 | a0001c0001t0001g0110 a0001c0001t0001g0240 |
2 | NA19000.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.82-8525A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108531221 | |||||||
| chrX:108531250 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-8496C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108531250 | |||||||
| chrX:108531340 | C | T | 1 | a0001c0001t0001g0163 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.82-8406C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108531340 | |||||||
| chrX:108531370 | T | TAAATAAA others(4): Show |
255 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0038 others(252): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.82-8368_82-8358dup others(11): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108531370 | ||||||
| chrX:108531385 | TA | T | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-8357delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108531385 | ||||||
| chrX:108531386 | A | AAATAAAA others(3): Show |
4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-8358_82-8357ins others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108531386 | ||||||
| chrX:108531520 | A | G | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-8226A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108531520 | |||||||
| chrX:108531584 | A | G | 4 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0249 others(1): Show |
4 | HG02109.hp2 HG02486.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-8162A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108531584 | |||||||
| chrX:108532039 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-7707A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108532039 | |||||||
| chrX:108532092 | A | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-7654A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108532092 | |||||||
| chrX:108532427 | C | T | 1 | a0001c0001t0001g0256 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.82-7319C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108532427 | |||||||
| chrX:108532528 | A | T | 1 | a0001c0001t0001g0106 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.82-7218A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108532528 | |||||||
| chrX:108532767 | A | C | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.82-6979A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108532767 | |||||||
| chrX:108532770 | G | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-6976G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108532770 | |||||||
| chrX:108532897 | C | T | 1 | a0001c0001t0001g0098 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.82-6849C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108532897 | |||||||
| chrX:108532955 | G | A | 1 | a0001c0001t0001g0093 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.82-6791G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108532955 | |||||||
| chrX:108532991 | G | A | 2 | a0001c0001t0001g0232 a0001c0001t0001g0233 |
2 | NA18983.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.82-6755G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108532991 | |||||||
| chrX:108533079 | A | T | 6 | a0001c0001t0001g0053 a0001c0001t0001g0205 a0001c0001t0001g0207 others(3): Show |
6 | HG00099.hp2 HG00733.hp2 HG03490.hp1 others(3): Show |
intron_variant | MODIFIER | c.82-6667A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108533079 | |||||||
| chrX:108533147 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-6599T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108533147 | |||||||
| chrX:108533177 | T | C | 2 | a0002c0002t0001g0065 a0002c0002t0001g0066 |
2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.82-6569T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108533177 | |||||||
| chrX:108533194 | G | A | 1 | a0001c0003t0007g0223 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.82-6552G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108533194 | |||||||
| chrX:108533422 | G | T | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-6324G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108533422 | |||||||
| chrX:108533438 | T | A | 1 | a0001c0001t0001g0082 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.82-6308T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108533438 | |||||||
| chrX:108533761 | G | A | 1 | a0001c0001t0001g0127 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.82-5985G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108533761 | |||||||
| chrX:108533795 | C | G | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-5951C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108533795 | |||||||
| chrX:108533818 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-5928A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108533818 | |||||||
| chrX:108534058 | A | T | 18 | a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0031 others(15): Show |
18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.82-5688A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108534058 | |||||||
| chrX:108534233 | A | G | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.82-5513A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108534233 | |||||||
| chrX:108534707 | C | T | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.82-5039C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108534707 | |||||||
| chrX:108534826 | A | G | 1 | a0001c0003t0007g0223 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.82-4920A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108534826 | |||||||
| chrX:108534839 | C | A | 2 | a0001c0001t0001g0160 a0001c0001t0001g0163 |
2 | HG02015.hp1 NA19084.hp2 |
intron_variant | MODIFIER | c.82-4907C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108534839 | |||||||
| chrX:108534870 | G | C | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.82-4876G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108534870 | |||||||
| chrX:108534907 | A | G | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.82-4839A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108534907 | |||||||
| chrX:108534918 | C | T | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-4828C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108534918 | |||||||
| chrX:108534949 | T | C | 1 | a0001c0001t0001g0174 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.82-4797T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108534949 | |||||||
| chrX:108535443 | G | A | 2 | a0001c0001t0001g0152 a0001c0001t0001g0156 |
2 | HG01934.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.82-4303G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108535443 | |||||||
| chrX:108535500 | A | G | 1 | a0001c0001t0001g0046 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.82-4246A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108535500 | |||||||
| chrX:108535733 | G | A | 1 | a0001c0001t0001g0162 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.82-4013G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108535733 | |||||||
| chrX:108536041 | C | T | 1 | a0001c0001t0001g0202 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.82-3705C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108536041 | |||||||
| chrX:108536234 | G | A | 1 | a0001c0001t0001g0161 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.82-3512G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108536234 | |||||||
| chrX:108536259 | TTGTG | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-3468_82-3465del others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108536259 | ||||||
| chrX:108536281 | G | A | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-3465G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108536281 | |||||||
| chrX:108536577 | G | A | 181 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(178): Show |
182 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(179): Show |
intron_variant | MODIFIER | c.82-3169G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108536577 | |||||||
| chrX:108537382 | C | G | 2 | a0001c0001t0001g0055 a0001c0001t0004g0054 |
2 | HG02897.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.82-2364C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108537382 | |||||||
| chrX:108537702 | C | G | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.82-2044C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108537702 | |||||||
| chrX:108537833 | A | G | 2 | a0001c0003t0001g0218 a0001c0003t0001g0219 |
2 | HG01106.hp1 HG01884.hp2 |
intron_variant | MODIFIER | c.82-1913A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108537833 | |||||||
| chrX:108537916 | A | G | 1 | a0001c0001t0001g0174 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.82-1830A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108537916 | |||||||
| chrX:108538219 | G | A | 1 | a0001c0003t0001g0227 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.82-1527G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108538219 | |||||||
| chrX:108538289 | G | A | 7 | a0001c0001t0001g0046 a0001c0001t0001g0082 a0001c0001t0001g0127 others(4): Show |
7 | HG02257.hp1 HG02451.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.82-1457G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108538289 | |||||||
| chrX:108538467 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-1279A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108538467 | |||||||
| chrX:108539183 | G | GA | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.82-556dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | 108539183 | ||||||
| chrX:108539417 | T | C | 1 | a0001c0001t0001g0109 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.82-329T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108539417 | |||||||
| chrX:108539534 | C | T | 18 | a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0031 others(15): Show |
18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.82-212C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108539534 | |||||||
| chrX:108539536 | C | G | 1 | a0001c0001t0001g0130 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.82-210C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | 108539536 | |||||||
| chrX:108540062 | A | G | 7 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(4): Show |
7 | HG01106.hp1 HG01884.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.141+257A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108540062 | |||||||
| chrX:108540094 | T | C | 1 | a0001c0001t0001g0211 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.141+289T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108540094 | |||||||
| chrX:108540205 | C | G | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.141+400C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108540205 | |||||||
| chrX:108540442 | A | C | 4 | a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0226 others(1): Show |
4 | HG02145.hp1 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.141+637A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108540442 | |||||||
| chrX:108540591 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+786T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108540591 | |||||||
| chrX:108540888 | T | C | 1 | a0001c0001t0001g0106 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.141+1083T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108540888 | |||||||
| chrX:108541058 | G | A | 1 | a0011c0012t0001g0128 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.141+1253G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108541058 | |||||||
| chrX:108541248 | C | A | 1 | a0001c0001t0001g0245 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.141+1443C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108541248 | |||||||
| chrX:108541534 | C | T | 1 | a0001c0001t0001g0172 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.141+1729C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108541534 | |||||||
| chrX:108541668 | T | C | 1 | a0001c0001t0001g0088 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.141+1863T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108541668 | |||||||
| chrX:108541706 | T | A | 1 | a0001c0001t0001g0121 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+1901T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108541706 | |||||||
| chrX:108542133 | A | C | 2 | a0002c0002t0001g0020 a0002c0002t0001g0063 |
2 | NA19085.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.141+2328A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542133 | |||||||
| chrX:108542253 | C | A | 1 | a0001c0001t0001g0104 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.141+2448C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542253 | |||||||
| chrX:108542474 | G | A | 1 | a0001c0001t0001g0237 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.141+2669G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542474 | |||||||
| chrX:108542533 | G | C | 1 | a0003c0004t0001g0117 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.141+2728G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542533 | |||||||
| chrX:108542663 | T | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+2858T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542663 | |||||||
| chrX:108542668 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+2863T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542668 | |||||||
| chrX:108542685 | A | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+2880A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542685 | |||||||
| chrX:108542693 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+2888G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542693 | |||||||
| chrX:108542721 | A | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+2916A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542721 | |||||||
| chrX:108542769 | G | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+2964G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542769 | |||||||
| chrX:108542793 | C | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+2988C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542793 | |||||||
| chrX:108542793 | C | T | 1 | a0001c0001t0001g0099 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.141+2988C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542793 | |||||||
| chrX:108542806 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+3001G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542806 | |||||||
| chrX:108542823 | C | T | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.141+3018C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542823 | |||||||
| chrX:108542825 | T | C | 3 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 |
3 | HG00280.hp1 HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.141+3020T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542825 | |||||||
| chrX:108542859 | T | A | 3 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 |
3 | HG00280.hp1 HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.141+3054T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542859 | |||||||
| chrX:108542886 | T | G | 1 | a0001c0003t0001g0226 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.141+3081T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542886 | |||||||
| chrX:108542928 | A | G | 1 | a0001c0001t0001g0256 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.141+3123A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542928 | |||||||
| chrX:108542976 | A | T | 105 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(102): Show |
106 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(103): Show |
intron_variant | MODIFIER | c.141+3171A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108542976 | |||||||
| chrX:108543070 | T | C | 1 | a0002c0002t0001g0036 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.141+3265T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543070 | |||||||
| chrX:108543104 | T | G | 1 | a0002c0002t0001g0006 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.141+3299T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543104 | |||||||
| chrX:108543135 | G | T | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.141+3330G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543135 | |||||||
| chrX:108543145 | C | T | 1 | a0002c0002t0001g0036 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.141+3340C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543145 | |||||||
| chrX:108543284 | A | G | 1 | a0001c0001t0001g0196 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.141+3479A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543284 | |||||||
| chrX:108543311 | C | T | 1 | a0005c0007t0001g0068 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.141+3506C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543311 | |||||||
| chrX:108543429 | A | G | 1 | a0001c0001t0001g0240 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.141+3624A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543429 | |||||||
| chrX:108543495 | G | C | 6 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 others(3): Show |
6 | HG01192.hp1 HG01515.hp1 HG01517.hp2 others(3): Show |
intron_variant | MODIFIER | c.141+3690G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543495 | |||||||
| chrX:108543539 | T | C | 263 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0038 others(260): Show |
265 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(262): Show |
intron_variant | MODIFIER | c.141+3734T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543539 | |||||||
| chrX:108543540 | A | G | 2 | a0001c0001t0001g0041 a0001c0001t0001g0047 |
2 | NA19055.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.141+3735A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543540 | |||||||
| chrX:108543740 | G | A | 2 | a0001c0001t0001g0232 a0001c0001t0001g0233 |
2 | NA18983.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.141+3935G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543740 | |||||||
| chrX:108543765 | G | A | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.141+3960G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108543765 | |||||||
| chrX:108544029 | A | C | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.141+4224A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544029 | |||||||
| chrX:108544147 | T | C | 1 | a0001c0001t0001g0156 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.141+4342T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544147 | |||||||
| chrX:108544322 | C | T | 1 | a0001c0001t0001g0252 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.141+4517C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544322 | |||||||
| chrX:108544445 | C | T | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.141+4640C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544445 | |||||||
| chrX:108544464 | T | A | 1 | a0002c0002t0001g0017 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.141+4659T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544464 | |||||||
| chrX:108544470 | T | C | 1 | a0002c0002t0001g0017 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.141+4665T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544470 | |||||||
| chrX:108544472 | G | T | 1 | a0002c0002t0001g0017 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.141+4667G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544472 | |||||||
| chrX:108544497 | T | C | 1 | a0001c0001t0001g0188 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.141+4692T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544497 | |||||||
| chrX:108544504 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+4699A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544504 | |||||||
| chrX:108544577 | GT | G | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.141+4774delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chrX | 108544577 | ||||||
| chrX:108544645 | C | CT | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.141+4850dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chrX | 108544645 | ||||||
| chrX:108544686 | A | G | 1 | a0001c0001t0001g0142 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.141+4881A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544686 | |||||||
| chrX:108544861 | T | C | 1 | a0002c0002t0001g0031 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.141+5056T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544861 | |||||||
| chrX:108544894 | C | T | 1 | a0001c0001t0001g0262 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.141+5089C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544894 | |||||||
| chrX:108544967 | A | T | 30 | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 others(27): Show |
30 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(27): Show |
intron_variant | MODIFIER | c.141+5162A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108544967 | |||||||
| chrX:108545252 | G | A | 1 | a0001c0001t0001g0038 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.141+5447G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545252 | |||||||
| chrX:108545284 | G | A | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.141+5479G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545284 | |||||||
| chrX:108545327 | T | C | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.141+5522T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545327 | |||||||
| chrX:108545463 | G | T | 1 | a0001c0001t0001g0161 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.141+5658G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545463 | |||||||
| chrX:108545484 | A | G | 8 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(5): Show |
8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.141+5679A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545484 | |||||||
| chrX:108545573 | A | G | 3 | a0001c0001t0001g0083 a0001c0001t0001g0111 a0001c0001t0001g0112 |
3 | HG01069.hp1 HG01071.hp2 HG03688.hp1 |
intron_variant | MODIFIER | c.141+5768A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545573 | |||||||
| chrX:108545699 | A | G | 1 | a0001c0001t0001g0258 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.141+5894A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545699 | |||||||
| chrX:108545746 | T | A | 1 | a0002c0002t0001g0017 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.141+5941T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545746 | |||||||
| chrX:108545752 | T | A | 1 | a0002c0002t0001g0017 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.141+5947T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545752 | |||||||
| chrX:108545757 | G | A | 1 | a0002c0002t0001g0017 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.141+5952G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545757 | |||||||
| chrX:108545761 | C | G | 1 | a0002c0002t0001g0017 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.141+5956C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545761 | |||||||
| chrX:108545763 | A | T | 1 | a0002c0002t0001g0017 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.141+5958A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545763 | |||||||
| chrX:108545903 | G | C | 1 | a0001c0001t0001g0138 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.141+6098G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545903 | |||||||
| chrX:108545904 | T | C | 1 | a0001c0001t0001g0138 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.141+6099T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545904 | |||||||
| chrX:108545909 | T | C | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.141+6104T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108545909 | |||||||
| chrX:108546096 | C | T | 181 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(178): Show |
182 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(179): Show |
intron_variant | MODIFIER | c.141+6291C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546096 | |||||||
| chrX:108546166 | T | C | 2 | a0001c0001t0001g0135 a0001c0001t0001g0155 |
2 | HG03453.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.141+6361T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546166 | |||||||
| chrX:108546202 | A | C | 1 | a0001c0001t0001g0204 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.141+6397A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546202 | |||||||
| chrX:108546233 | G | T | 1 | a0002c0002t0001g0036 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.141+6428G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546233 | |||||||
| chrX:108546260 | C | T | 2 | a0001c0001t0001g0120 a0001c0001t0001g0146 |
2 | HG00733.hp1 HG01952.hp1 |
intron_variant | MODIFIER | c.141+6455C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546260 | |||||||
| chrX:108546551 | T | G | 1 | a0001c0001t0001g0051 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.141+6746T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546551 | |||||||
| chrX:108546737 | C | G | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.141+6932C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546737 | |||||||
| chrX:108546766 | C | G | 18 | a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0031 others(15): Show |
18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.141+6961C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546766 | |||||||
| chrX:108546803 | C | T | 1 | a0001c0001t0001g0188 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.141+6998C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546803 | |||||||
| chrX:108546804 | G | A | 1 | a0001c0001t0001g0253 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.141+6999G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546804 | |||||||
| chrX:108546896 | C | T | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.141+7091C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546896 | |||||||
| chrX:108546901 | T | C | 181 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(178): Show |
182 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(179): Show |
intron_variant | MODIFIER | c.141+7096T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546901 | |||||||
| chrX:108546926 | C | T | 30 | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 others(27): Show |
30 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(27): Show |
intron_variant | MODIFIER | c.141+7121C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546926 | |||||||
| chrX:108546938 | G | A | 2 | a0002c0002t0001g0008 a0002c0002t0001g0019 |
2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.141+7133G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108546938 | |||||||
| chrX:108547007 | C | T | 1 | a0001c0003t0001g0227 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.141+7202C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547007 | |||||||
| chrX:108547033 | A | G | 1 | a0001c0001t0001g0121 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7228A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547033 | |||||||
| chrX:108547037 | G | C | 1 | a0001c0001t0001g0121 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7232G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547037 | |||||||
| chrX:108547043 | A | T | 2 | a0001c0001t0001g0052 a0001c0001t0001g0179 |
2 | HG02132.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.141+7238A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547043 | |||||||
| chrX:108547044 | T | A | 1 | a0001c0001t0001g0121 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7239T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547044 | |||||||
| chrX:108547072 | A | G | 1 | a0001c0001t0001g0121 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7267A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547072 | |||||||
| chrX:108547074 | G | A | 1 | a0001c0001t0001g0121 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7269G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547074 | |||||||
| chrX:108547085 | A | G | 1 | a0001c0001t0001g0121 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7280A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547085 | |||||||
| chrX:108547090 | T | A | 1 | a0001c0001t0001g0121 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7285T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547090 | |||||||
| chrX:108547104 | C | G | 1 | a0001c0001t0001g0121 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7299C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547104 | |||||||
| chrX:108547110 | T | G | 1 | a0001c0001t0001g0121 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7305T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547110 | |||||||
| chrX:108547122 | C | G | 1 | a0001c0001t0001g0121 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7317C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547122 | |||||||
| chrX:108547126 | T | A | 1 | a0001c0001t0001g0121 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7321T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547126 | |||||||
| chrX:108547149 | T | A | 1 | a0001c0001t0001g0121 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.141+7344T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547149 | |||||||
| chrX:108547286 | C | T | 1 | a0003c0004t0013g0114 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.141+7481C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547286 | |||||||
| chrX:108547428 | T | C | 49 | a0001c0001t0001g0260 a0002c0002t0001g0006 a0002c0002t0001g0007 others(46): Show |
49 | HG00738.hp1 HG01975.hp2 HG01978.hp2 others(46): Show |
intron_variant | MODIFIER | c.141+7623T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547428 | |||||||
| chrX:108547496 | G | A | 2 | a0001c0001t0001g0120 a0001c0001t0001g0146 |
2 | HG00733.hp1 HG01952.hp1 |
intron_variant | MODIFIER | c.141+7691G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547496 | |||||||
| chrX:108547559 | G | A | 1 | a0001c0001t0001g0185 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.141+7754G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547559 | |||||||
| chrX:108547824 | C | T | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.141+8019C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547824 | |||||||
| chrX:108547825 | A | T | 2 | a0002c0002t0001g0010 a0002c0002t0001g0016 |
2 | HG02083.hp1 HG02155.hp2 |
intron_variant | MODIFIER | c.141+8020A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547825 | |||||||
| chrX:108547896 | G | T | 24 | a0001c0001t0001g0005 a0001c0001t0001g0053 a0001c0001t0001g0188 others(21): Show |
24 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(21): Show |
intron_variant | MODIFIER | c.141+8091G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108547896 | |||||||
| chrX:108548058 | G | A | 6 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0249 others(3): Show |
6 | HG02109.hp2 HG02486.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.141+8253G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548058 | |||||||
| chrX:108548066 | C | T | 7 | a0001c0001t0001g0046 a0001c0001t0001g0082 a0001c0001t0001g0127 others(4): Show |
7 | HG02257.hp1 HG02451.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.141+8261C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548066 | |||||||
| chrX:108548067 | G | A | 1 | a0002c0002t0001g0064 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.141+8262G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548067 | |||||||
| chrX:108548090 | A | T | 1 | a0001c0001t0001g0106 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.141+8285A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548090 | |||||||
| chrX:108548142 | G | C | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.141+8337G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548142 | |||||||
| chrX:108548203 | C | T | 1 | a0001c0001t0001g0211 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.141+8398C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548203 | |||||||
| chrX:108548580 | G | A | 1 | a0001c0003t0001g0226 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.141+8775G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548580 | |||||||
| chrX:108548654 | C | T | 30 | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 others(27): Show |
30 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(27): Show |
intron_variant | MODIFIER | c.141+8849C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548654 | |||||||
| chrX:108548771 | G | A | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.141+8966G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548771 | |||||||
| chrX:108548886 | C | G | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.141+9081C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548886 | |||||||
| chrX:108548908 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+9103A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108548908 | |||||||
| chrX:108549168 | G | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.141+9363G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108549168 | |||||||
| chrX:108550237 | G | A | 14 | a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0140 others(11): Show |
14 | HG00558.hp1 HG00735.hp2 HG01123.hp1 others(11): Show |
intron_variant | MODIFIER | c.142-8827G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108550237 | |||||||
| chrX:108550268 | C | G | 1 | a0001c0001t0001g0211 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.142-8796C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108550268 | |||||||
| chrX:108550303 | C | T | 3 | a0001c0001t0001g0055 a0001c0001t0001g0256 a0001c0001t0004g0054 |
3 | HG02897.hp2 HG03540.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.142-8761C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108550303 | |||||||
| chrX:108550394 | C | T | 183 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(180): Show |
184 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(181): Show |
intron_variant | MODIFIER | c.142-8670C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108550394 | |||||||
| chrX:108550662 | C | T | 1 | a0002c0002t0001g0016 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.142-8402C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108550662 | |||||||
| chrX:108550706 | C | T | 2 | a0005c0007t0001g0068 a0005c0007t0001g0070 |
2 | HG02523.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.142-8358C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108550706 | |||||||
| chrX:108550707 | G | A | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.142-8357G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108550707 | |||||||
| chrX:108550727 | A | T | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.142-8337A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108550727 | |||||||
| chrX:108550874 | G | A | 1 | a0001c0001t0001g0106 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.142-8190G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108550874 | |||||||
| chrX:108551014 | C | T | 1 | a0001c0001t0001g0186 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.142-8050C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108551014 | |||||||
| chrX:108551022 | A | G | 1 | a0001c0001t0001g0262 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.142-8042A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108551022 | |||||||
| chrX:108551145 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-7919T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108551145 | |||||||
| chrX:108551160 | A | G | 1 | a0001c0001t0001g0125 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.142-7904A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108551160 | |||||||
| chrX:108551274 | T | C | 1 | a0001c0001t0001g0142 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.142-7790T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108551274 | |||||||
| chrX:108551609 | T | G | 1 | a0002c0002t0001g0064 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.142-7455T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108551609 | |||||||
| chrX:108551765 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-7299A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108551765 | |||||||
| chrX:108551819 | A | G | 1 | a0001c0001t0001g0041 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.142-7245A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108551819 | |||||||
| chrX:108552186 | G | A | 4 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0249 others(1): Show |
4 | HG02109.hp2 HG02486.hp1 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.142-6878G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108552186 | |||||||
| chrX:108552216 | A | G | 183 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(180): Show |
184 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(181): Show |
intron_variant | MODIFIER | c.142-6848A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108552216 | |||||||
| chrX:108552684 | A | T | 1 | a0004c0006t0001g0251 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.142-6380A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108552684 | |||||||
| chrX:108552685 | C | A | 1 | a0004c0006t0001g0251 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.142-6379C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108552685 | |||||||
| chrX:108552741 | C | G | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.142-6323C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108552741 | |||||||
| chrX:108552962 | T | C | 2 | a0001c0001t0010g0206 a0007c0010t0001g0209 |
2 | HG00099.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.142-6102T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108552962 | |||||||
| chrX:108553065 | A | C | 1 | a0001c0001t0006g0212 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.142-5999A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108553065 | |||||||
| chrX:108553207 | C | T | 1 | a0002c0002t0001g0061 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.142-5857C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108553207 | |||||||
| chrX:108553253 | A | G | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.142-5811A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108553253 | |||||||
| chrX:108553583 | T | G | 1 | a0001c0001t0005g0193 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.142-5481T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108553583 | |||||||
| chrX:108554128 | A | G | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.142-4936A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108554128 | |||||||
| chrX:108554939 | A | G | 2 | a0002c0002t0001g0011 a0002c0002t0001g0012 |
2 | NA18957.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.142-4125A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108554939 | |||||||
| chrX:108554971 | A | T | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.142-4093A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108554971 | |||||||
| chrX:108555088 | A | G | 1 | a0002c0002t0001g0079 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.142-3976A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108555088 | |||||||
| chrX:108555384 | T | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-3680T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108555384 | |||||||
| chrX:108555723 | T | C | 1 | a0001c0001t0001g0169 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.142-3341T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108555723 | |||||||
| chrX:108556386 | C | T | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.142-2678C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108556386 | |||||||
| chrX:108556496 | CAG | C | 49 | a0001c0001t0001g0059 a0002c0002t0001g0006 a0002c0002t0001g0007 others(46): Show |
49 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(46): Show |
intron_variant | MODIFIER | c.142-2558_142-2557d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chrX | 108556496 | ||||||
| chrX:108556835 | A | G | 1 | a0001c0001t0001g0191 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.142-2229A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108556835 | |||||||
| chrX:108557057 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-2007C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108557057 | |||||||
| chrX:108557383 | A | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-1681A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108557383 | |||||||
| chrX:108557428 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-1636G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108557428 | |||||||
| chrX:108557439 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-1625T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108557439 | |||||||
| chrX:108557486 | A | T | 1 | a0001c0001t0001g0264 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.142-1578A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108557486 | |||||||
| chrX:108557640 | AAC | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-1407_142-1406d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chrX | 108557640 | ||||||
| chrX:108557689 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-1375C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108557689 | |||||||
| chrX:108557792 | T | C | 1 | a0001c0001t0001g0158 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.142-1272T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108557792 | |||||||
| chrX:108557862 | G | A | 8 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(5): Show |
8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.142-1202G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108557862 | |||||||
| chrX:108557916 | G | A | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.142-1148G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108557916 | |||||||
| chrX:108557929 | A | G | 2 | a0001c0001t0001g0056 a0001c0001t0001g0059 |
2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.142-1135A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108557929 | |||||||
| chrX:108558159 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-905G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108558159 | |||||||
| chrX:108558260 | A | T | 1 | a0001c0001t0001g0039 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.142-804A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108558260 | |||||||
| chrX:108558380 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.142-684A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108558380 | |||||||
| chrX:108558490 | C | T | 1 | a0001c0001t0001g0097 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.142-574C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108558490 | |||||||
| chrX:108558491 | G | A | 2 | a0001c0001t0001g0213 a0001c0001t0001g0216 |
2 | HG01243.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.142-573G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 2/52 | chrX | 108558491 | |||||||
| chrX:108560003 | C | T | 1 | a0009c0015t0001g0181 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.231+850C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108560003 | |||||||
| chrX:108560030 | T | C | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.231+877T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108560030 | |||||||
| chrX:108560120 | A | G | 1 | a0001c0003t0001g0227 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.231+967A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108560120 | |||||||
| chrX:108560594 | A | G | 1 | a0001c0001t0001g0104 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.231+1441A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108560594 | |||||||
| chrX:108560772 | G | A | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.231+1619G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108560772 | |||||||
| chrX:108561195 | A | G | 1 | a0002c0002t0001g0079 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.231+2042A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108561195 | |||||||
| chrX:108561364 | A | T | 8 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(5): Show |
8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.231+2211A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108561364 | |||||||
| chrX:108561464 | G | T | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.231+2311G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108561464 | |||||||
| chrX:108561517 | G | GT | 6 | a0001c0001t0001g0038 a0001c0001t0001g0093 a0001c0001t0001g0094 others(3): Show |
6 | HG00438.hp2 NA18979.hp2 NA18982.hp1 others(3): Show |
intron_variant | MODIFIER | c.232-2354dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chrX | 108561517 | ||||||
| chrX:108561578 | A | G | 183 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(180): Show |
184 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(181): Show |
intron_variant | MODIFIER | c.232-2304A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108561578 | |||||||
| chrX:108562128 | G | T | 1 | a0001c0001t0001g0196 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.232-1754G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108562128 | |||||||
| chrX:108562153 | G | C | 1 | a0001c0001t0001g0048 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.232-1729G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108562153 | |||||||
| chrX:108562257 | G | A | 2 | a0001c0001t0001g0056 a0001c0001t0001g0059 |
2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.232-1625G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108562257 | |||||||
| chrX:108562575 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.232-1307G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108562575 | |||||||
| chrX:108562607 | C | G | 1 | a0001c0001t0001g0049 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.232-1275C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108562607 | |||||||
| chrX:108562619 | G | T | 9 | a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 others(6): Show |
9 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.232-1263G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108562619 | |||||||
| chrX:108562888 | C | A | 1 | a0001c0001t0001g0121 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.232-994C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108562888 | |||||||
| chrX:108563096 | G | A | 257 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0038 others(254): Show |
259 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(256): Show |
intron_variant | MODIFIER | c.232-786G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108563096 | |||||||
| chrX:108563152 | G | C | 1 | a0001c0001t0001g0131 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.232-730G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108563152 | |||||||
| chrX:108563189 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.232-693T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108563189 | |||||||
| chrX:108563209 | T | A | 1 | a0001c0001t0001g0132 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.232-673T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108563209 | |||||||
| chrX:108563392 | C | T | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.232-490C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108563392 | |||||||
| chrX:108563849 | C | T | 1 | a0001c0001t0001g0085 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.232-33C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108563849 | |||||||
| chrX:108563865 | A | C | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-17A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 3/52 | chrX | 108563865 | |||||||
| chrX:108563995 | T | C | 1 | a0001c0001t0001g0189 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.276+69T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108563995 | |||||||
| chrX:108564285 | G | A | 1 | a0001c0001t0001g0044 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.276+359G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108564285 | |||||||
| chrX:108564325 | T | G | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.276+399T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108564325 | |||||||
| chrX:108564724 | T | G | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.276+798T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108564724 | |||||||
| chrX:108564797 | A | G | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.276+871A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108564797 | |||||||
| chrX:108564873 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.276+947C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108564873 | |||||||
| chrX:108564891 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.276+965A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108564891 | |||||||
| chrX:108564992 | T | TA | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.276+1071dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chrX | 108564992 | ||||||
| chrX:108565174 | A | T | 5 | a0001c0001t0001g0002 a0001c0001t0001g0091 a0001c0001t0001g0095 others(2): Show |
6 | HG00673.hp1 NA18939.hp2 NA18942.hp1 others(3): Show |
intron_variant | MODIFIER | c.276+1248A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108565174 | |||||||
| chrX:108565256 | A | G | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.276+1330A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108565256 | |||||||
| chrX:108565604 | T | C | 1 | a0001c0001t0001g0099 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.276+1678T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108565604 | |||||||
| chrX:108565984 | C | CT | 12 | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(9): Show |
12 | HG00408.hp2 HG00558.hp2 HG00609.hp1 others(9): Show |
intron_variant | MODIFIER | c.276+2076dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chrX | 108565984 | ||||||
| chrX:108565984 | CT | C | 62 | a0001c0001t0001g0040 a0001c0001t0001g0122 a0001c0001t0001g0123 others(59): Show |
62 | HG01167.hp1 HG01975.hp2 HG01978.hp2 others(59): Show |
intron_variant | MODIFIER | c.276+2076delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chrX | 108565984 | ||||||
| chrX:108565987 | T | C | 1 | a0001c0001t0001g0046 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.276+2061T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108565987 | |||||||
| chrX:108566080 | A | G | 1 | a0001c0001t0001g0039 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.276+2154A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108566080 | |||||||
| chrX:108566118 | G | A | 1 | a0001c0001t0011g0244 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.276+2192G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108566118 | |||||||
| chrX:108566202 | A | G | 1 | a0001c0003t0001g0226 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.276+2276A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108566202 | |||||||
| chrX:108566238 | C | CT | 5 | a0001c0001t0001g0203 a0002c0005t0001g0071 a0005c0007t0001g0068 others(2): Show |
5 | HG02055.hp1 HG02523.hp1 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.276+2325dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chrX | 108566238 | ||||||
| chrX:108566394 | C | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.277-2235C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108566394 | |||||||
| chrX:108566407 | T | G | 1 | a0001c0001t0001g0153 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.277-2222T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108566407 | |||||||
| chrX:108566442 | G | A | 1 | a0001c0001t0001g0146 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.277-2187G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108566442 | |||||||
| chrX:108566547 | T | C | 2 | a0002c0002t0001g0065 a0002c0002t0001g0066 |
2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.277-2082T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108566547 | |||||||
| chrX:108566634 | C | G | 1 | a0001c0001t0001g0142 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.277-1995C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108566634 | |||||||
| chrX:108566661 | G | C | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.277-1968G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108566661 | |||||||
| chrX:108566673 | C | T | 1 | a0001c0001t0001g0100 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.277-1956C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108566673 | |||||||
| chrX:108567034 | C | CT | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.277-1590dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | INFO_REALIGN_3_PRIME | chrX | 108567034 | ||||||
| chrX:108567654 | C | T | 1 | a0001c0001t0001g0156 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.277-975C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108567654 | |||||||
| chrX:108567729 | T | C | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.277-900T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108567729 | |||||||
| chrX:108567911 | A | C | 6 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 others(3): Show |
6 | HG01192.hp1 HG01515.hp1 HG01517.hp2 others(3): Show |
intron_variant | MODIFIER | c.277-718A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108567911 | |||||||
| chrX:108568125 | A | G | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.277-504A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108568125 | |||||||
| chrX:108568162 | C | A | 1 | a0002c0002t0001g0035 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.277-467C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108568162 | |||||||
| chrX:108568274 | A | C | 181 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(178): Show |
182 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(179): Show |
intron_variant | MODIFIER | c.277-355A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108568274 | |||||||
| chrX:108568444 | A | G | 1 | a0002c0002t0001g0036 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.277-185A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 4/52 | chrX | 108568444 | |||||||
| chrX:108569357 | A | G | 2 | a0001c0001t0001g0192 a0001c0001t0001g0201 |
2 | HG00140.hp1 HG01123.hp2 |
intron_variant | MODIFIER | c.384+536A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 6/52 | chrX | 108569357 | |||||||
| chrX:108569802 | C | G | 1 | a0001c0001t0001g0156 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.384+981C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 6/52 | chrX | 108569802 | |||||||
| chrX:108569849 | G | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.384+1028G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 6/52 | chrX | 108569849 | |||||||
| chrX:108570424 | CAGTGTGC others(3): Show |
C | 7 | a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0032 others(4): Show |
7 | HG02723.hp2 HG02818.hp2 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.385-987_385-978del others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 6/52 | INFO_REALIGN_3_PRIME | chrX | 108570424 | ||||||
| chrX:108570431 | C | A | 1 | a0002c0002t0001g0031 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.385-982C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 6/52 | chrX | 108570431 | |||||||
| chrX:108570561 | T | C | 1 | a0001c0001t0001g0260 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.385-852T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 6/52 | chrX | 108570561 | |||||||
| chrX:108571316 | G | A | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.385-97G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 6/52 | chrX | 108571316 | |||||||
| chrX:108571502 | G | T | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.438+36G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 7/52 | chrX | 108571502 | |||||||
| chrX:108571774 | A | C | 1 | a0002c0002t0001g0079 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.439-37A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 7/52 | chrX | 108571774 | |||||||
| chrX:108572037 | A | AAATG | 4 | a0001c0001t0001g0040 a0001c0001t0001g0122 a0001c0001t0001g0123 others(1): Show |
4 | HG02074.hp1 NA18947.hp1 NA19081.hp1 others(1): Show |
intron_variant | MODIFIER | c.465+201_465+204dup others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | INFO_REALIGN_3_PRIME | chrX | 108572037 | ||||||
| chrX:108572256 | A | G | 1 | a0001c0001t0001g0231 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.465+419A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | chrX | 108572256 | |||||||
| chrX:108572504 | T | G | 4 | a0001c0001t0001g0250 a0001c0001t0001g0252 a0004c0006t0001g0003 others(1): Show |
5 | NA18939.hp1 NA18988.hp1 NA18990.hp1 others(2): Show |
intron_variant | MODIFIER | c.465+667T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | chrX | 108572504 | |||||||
| chrX:108572704 | G | A | 1 | a0002c0002t0001g0080 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.465+867G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | chrX | 108572704 | |||||||
| chrX:108572875 | A | G | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.466-699A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | chrX | 108572875 | |||||||
| chrX:108573105 | C | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.466-469C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | chrX | 108573105 | |||||||
| chrX:108573121 | G | GT | 13 | a0001c0001t0004g0054 a0001c0003t0001g0057 a0001c0003t0001g0058 others(10): Show |
13 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.466-442dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | INFO_REALIGN_3_PRIME | chrX | 108573121 | ||||||
| chrX:108573208 | A | G | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.466-366A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | chrX | 108573208 | |||||||
| chrX:108573210 | A | G | 2 | a0001c0001t0001g0164 a0001c0001t0001g0178 |
2 | HG01515.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.466-364A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | chrX | 108573210 | |||||||
| chrX:108573315 | A | G | 6 | a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 others(3): Show |
6 | HG00558.hp2 HG00609.hp1 NA18947.hp2 others(3): Show |
intron_variant | MODIFIER | c.466-259A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | chrX | 108573315 | |||||||
| chrX:108573448 | ACTGAGAT others(8): Show |
A | 1 | a0003c0004t0001g0115 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.466-123_466-109del others(15): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/52 | INFO_REALIGN_3_PRIME | chrX | 108573448 | ||||||
| chrX:108574402 | A | G | 1 | a0001c0001t0001g0170 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.546+748A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108574402 | |||||||
| chrX:108574669 | A | G | 2 | a0001c0001t0001g0127 a0001c0001t0001g0176 |
2 | HG02630.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.546+1015A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108574669 | |||||||
| chrX:108574792 | G | A | 1 | a0001c0001t0001g0169 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.547-1118G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108574792 | |||||||
| chrX:108574861 | C | T | 1 | a0010c0009t0001g0069 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.547-1049C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108574861 | |||||||
| chrX:108575058 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.547-852G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108575058 | |||||||
| chrX:108575102 | T | C | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.547-808T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108575102 | |||||||
| chrX:108575254 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.547-656C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108575254 | |||||||
| chrX:108575290 | G | C | 1 | a0001c0003t0001g0227 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.547-620G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108575290 | |||||||
| chrX:108575429 | T | G | 1 | a0001c0001t0001g0180 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.547-481T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108575429 | |||||||
| chrX:108575432 | A | T | 49 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(46): Show |
49 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(46): Show |
intron_variant | MODIFIER | c.547-478A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108575432 | |||||||
| chrX:108575578 | G | A | 1 | a0003c0004t0001g0119 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.547-332G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108575578 | |||||||
| chrX:108575666 | G | A | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.547-244G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108575666 | |||||||
| chrX:108575878 | T | C | 1 | a0001c0001t0001g0233 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.547-32T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 9/52 | chrX | 108575878 | |||||||
| chrX:108575993 | T | C | 97 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(94): Show |
98 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(95): Show |
intron_variant | MODIFIER | c.609+21T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108575993 | |||||||
| chrX:108576141 | CTAAG | C | 3 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 |
3 | HG00280.hp1 HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.609+173_609+176del others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | INFO_REALIGN_3_PRIME | chrX | 108576141 | ||||||
| chrX:108576432 | T | C | 1 | a0001c0001t0001g0151 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.609+460T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108576432 | |||||||
| chrX:108576485 | C | T | 1 | a0001c0001t0001g0048 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.609+513C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108576485 | |||||||
| chrX:108577100 | G | C | 6 | a0003c0004t0001g0115 a0003c0004t0001g0116 a0003c0004t0001g0117 others(3): Show |
6 | NA18949.hp2 NA18951.hp2 NA18959.hp1 others(3): Show |
intron_variant | MODIFIER | c.610-852G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108577100 | |||||||
| chrX:108577304 | G | A | 1 | a0001c0001t0001g0235 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.610-648G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108577304 | |||||||
| chrX:108577372 | C | CA | 8 | a0001c0001t0001g0059 a0001c0001t0001g0134 a0001c0001t0001g0172 others(5): Show |
8 | HG01106.hp1 HG02258.hp1 HG03579.hp1 others(5): Show |
intron_variant | MODIFIER | c.610-560dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | INFO_REALIGN_3_PRIME | chrX | 108577372 | ||||||
| chrX:108577372 | CA | C | 21 | a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0094 others(18): Show |
21 | HG01081.hp1 HG01123.hp1 HG01169.hp1 others(18): Show |
intron_variant | MODIFIER | c.610-560delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | INFO_REALIGN_3_PRIME | chrX | 108577372 | ||||||
| chrX:108577372 | CAA | C | 50 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(47): Show |
50 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(47): Show |
intron_variant | MODIFIER | c.610-561_610-560del others(2): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | INFO_REALIGN_3_PRIME | chrX | 108577372 | ||||||
| chrX:108577551 | A | C | 1 | a0004c0006t0001g0251 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.610-401A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108577551 | |||||||
| chrX:108577647 | T | A | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.610-305T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108577647 | |||||||
| chrX:108577689 | T | C | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.610-263T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108577689 | |||||||
| chrX:108577707 | C | T | 1 | a0001c0001t0001g0242 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.610-245C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108577707 | |||||||
| chrX:108577723 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.610-229C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108577723 | |||||||
| chrX:108577831 | C | G | 1 | a0001c0001t0001g0250 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.610-121C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 10/52 | chrX | 108577831 | |||||||
| chrX:108578244 | T | C | 1 | a0001c0001t0001g0196 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.688-47T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 12/52 | chrX | 108578244 | |||||||
| chrX:108578525 | C | T | 3 | a0001c0001t0001g0083 a0001c0001t0001g0111 a0001c0001t0001g0112 |
3 | HG01069.hp1 HG01071.hp2 HG03688.hp1 |
intron_variant | MODIFIER | c.780+142C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | chrX | 108578525 | |||||||
| chrX:108578636 | T | C | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.780+253T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | chrX | 108578636 | |||||||
| chrX:108578680 | A | AT | 52 | a0001c0001t0001g0201 a0001c0001t0001g0243 a0002c0002t0001g0006 others(49): Show |
52 | HG01123.hp2 HG01975.hp2 HG01978.hp2 others(49): Show |
intron_variant | MODIFIER | c.780+313dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | INFO_REALIGN_3_PRIME | chrX | 108578680 | ||||||
| chrX:108578969 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.780+586T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | chrX | 108578969 | |||||||
| chrX:108579059 | A | AT | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.780+686dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | INFO_REALIGN_3_PRIME | chrX | 108579059 | ||||||
| chrX:108579225 | G | A | 1 | a0002c0002t0001g0036 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.780+842G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | chrX | 108579225 | |||||||
| chrX:108579574 | G | A | 1 | a0002c0002t0001g0079 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.781-959G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | chrX | 108579574 | |||||||
| chrX:108579710 | A | G | 2 | a0001c0001t0001g0056 a0001c0001t0001g0059 |
2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.781-823A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | chrX | 108579710 | |||||||
| chrX:108579721 | G | A | 1 | a0001c0001t0001g0170 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.781-812G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | chrX | 108579721 | |||||||
| chrX:108580453 | T | C | 1 | a0001c0001t0001g0203 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.781-80T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 13/52 | chrX | 108580453 | |||||||
| chrX:108580775 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.891+37A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 15/52 | chrX | 108580775 | |||||||
| chrX:108580818 | T | TCTTA | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.891+83_891+84insAC others(2): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 15/52 | INFO_REALIGN_3_PRIME | chrX | 108580818 | ||||||
| chrX:108581130 | G | A | 1 | a0001c0001t0001g0165 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.936+103G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | chrX | 108581130 | |||||||
| chrX:108581301 | A | G | 1 | a0001c0001t0001g0228 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.936+274A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | chrX | 108581301 | |||||||
| chrX:108581652 | C | G | 1 | a0002c0002t0001g0080 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.936+625C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | chrX | 108581652 | |||||||
| chrX:108581658 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.936+631G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | chrX | 108581658 | |||||||
| chrX:108582016 | G | A | 2 | a0001c0001t0001g0056 a0001c0001t0001g0059 |
2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.937-868G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | chrX | 108582016 | |||||||
| chrX:108582016 | G | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.937-868G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | chrX | 108582016 | |||||||
| chrX:108582107 | G | A | 1 | a0001c0001t0001g0180 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.937-777G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | chrX | 108582107 | |||||||
| chrX:108582287 | G | A | 1 | a0001c0001t0001g0166 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.937-597G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | chrX | 108582287 | |||||||
| chrX:108582627 | C | A | 6 | a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 others(3): Show |
6 | NA18612.hp1 NA18941.hp1 NA18981.hp2 others(3): Show |
intron_variant | MODIFIER | c.937-257C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | chrX | 108582627 | |||||||
| chrX:108582695 | CT | C | 186 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0038 others(183): Show |
188 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(185): Show |
intron_variant | MODIFIER | c.937-170delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chrX | 108582695 | ||||||
| chrX:108582695 | CTT | C | 62 | a0001c0001t0001g0046 a0001c0001t0001g0082 a0001c0001t0001g0127 others(59): Show |
62 | HG01167.hp1 HG01975.hp2 HG01978.hp2 others(59): Show |
intron_variant | MODIFIER | c.937-171_937-170del others(2): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chrX | 108582695 | ||||||
| chrX:108583054 | A | T | 1 | a0008c0014t0001g0108 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.990+117A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | chrX | 108583054 | |||||||
| chrX:108583309 | A | G | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.990+372A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | chrX | 108583309 | |||||||
| chrX:108583337 | A | G | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.990+400A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | chrX | 108583337 | |||||||
| chrX:108583384 | C | A | 2 | a0001c0001t0001g0164 a0001c0001t0001g0178 |
2 | HG01515.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.990+447C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | chrX | 108583384 | |||||||
| chrX:108583745 | A | G | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.991-739A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | chrX | 108583745 | |||||||
| chrX:108583969 | T | C | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.991-515T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | chrX | 108583969 | |||||||
| chrX:108584001 | G | A | 222 | a0001c0001t0001g0005 a0001c0001t0001g0040 a0001c0001t0001g0041 others(219): Show |
223 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(220): Show |
intron_variant | MODIFIER | c.991-483G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | chrX | 108584001 | |||||||
| chrX:108584073 | T | TA | 66 | a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0142 others(63): Show |
66 | HG01106.hp1 HG01109.hp1 HG01123.hp1 others(63): Show |
intron_variant | MODIFIER | c.991-389dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | INFO_REALIGN_3_PRIME | chrX | 108584073 | ||||||
| chrX:108584073 | TA | T | 8 | a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0106 others(5): Show |
8 | HG01069.hp1 HG02015.hp1 HG03041.hp2 others(5): Show |
intron_variant | MODIFIER | c.991-389delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | INFO_REALIGN_3_PRIME | chrX | 108584073 | ||||||
| chrX:108584110 | G | T | 49 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(46): Show |
49 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(46): Show |
intron_variant | MODIFIER | c.991-374G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | chrX | 108584110 | |||||||
| chrX:108584288 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.991-196C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | chrX | 108584288 | |||||||
| chrX:108584310 | C | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.991-174C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 17/52 | chrX | 108584310 | |||||||
| chrX:108584550 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1032+25G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108584550 | |||||||
| chrX:108584607 | T | C | 1 | a0001c0001t0008g0187 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1032+82T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108584607 | |||||||
| chrX:108584884 | T | C | 1 | a0001c0001t0001g0250 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.1032+359T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108584884 | |||||||
| chrX:108585102 | A | G | 1 | a0001c0001t0001g0250 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.1032+577A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108585102 | |||||||
| chrX:108585227 | C | T | 1 | a0001c0001t0001g0197 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.1032+702C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108585227 | |||||||
| chrX:108585603 | A | T | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.1033-1012A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108585603 | |||||||
| chrX:108585777 | G | T | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1033-838G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108585777 | |||||||
| chrX:108586168 | AAC | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1033-435_1033-434d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | INFO_REALIGN_3_PRIME | chrX | 108586168 | ||||||
| chrX:108586275 | A | G | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.1033-340A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108586275 | |||||||
| chrX:108586317 | G | A | 7 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(4): Show |
7 | HG01106.hp1 HG01884.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.1033-298G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108586317 | |||||||
| chrX:108586344 | G | A | 2 | a0002c0002t0001g0014 a0002c0002t0001g0015 |
2 | HG01975.hp2 HG01978.hp2 |
intron_variant | MODIFIER | c.1033-271G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108586344 | |||||||
| chrX:108586361 | G | A | 2 | a0001c0001t0001g0124 a0001c0001t0001g0134 |
2 | HG01081.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.1033-254G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108586361 | |||||||
| chrX:108586421 | C | G | 1 | a0001c0001t0001g0202 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1033-194C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108586421 | |||||||
| chrX:108586543 | C | T | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.1033-72C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 18/52 | chrX | 108586543 | |||||||
| chrX:108586945 | G | A | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.1165+198G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108586945 | |||||||
| chrX:108586982 | AT | A | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.1165+241delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | INFO_REALIGN_3_PRIME | chrX | 108586982 | ||||||
| chrX:108587045 | C | A | 181 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(178): Show |
182 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(179): Show |
intron_variant | MODIFIER | c.1165+298C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108587045 | |||||||
| chrX:108587053 | T | G | 4 | a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 others(1): Show |
4 | HG00558.hp2 HG00609.hp1 NA18948.hp1 others(1): Show |
intron_variant | MODIFIER | c.1165+306T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108587053 | |||||||
| chrX:108587292 | A | ACCATCAT others(14): Show |
56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1165+550_1165+570d others(23): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | INFO_REALIGN_3_PRIME | chrX | 108587292 | ||||||
| chrX:108587323 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1165+576C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108587323 | |||||||
| chrX:108587326 | C | CT | 47 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(44): Show |
47 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(44): Show |
intron_variant | MODIFIER | c.1165+590dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | INFO_REALIGN_3_PRIME | chrX | 108587326 | ||||||
| chrX:108587565 | T | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1165+818T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108587565 | |||||||
| chrX:108588041 | C | T | 1 | a0001c0001t0001g0082 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1165+1294C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108588041 | |||||||
| chrX:108588131 | C | T | 1 | a0002c0002t0001g0061 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1165+1384C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108588131 | |||||||
| chrX:108588289 | A | G | 1 | a0001c0001t0001g0203 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1165+1542A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108588289 | |||||||
| chrX:108588319 | C | G | 2 | a0001c0001t0001g0162 a0001c0001t0001g0248 |
2 | HG03704.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.1165+1572C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108588319 | |||||||
| chrX:108588584 | G | C | 3 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0105 |
3 | NA18979.hp2 NA18982.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.1165+1837G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108588584 | |||||||
| chrX:108588634 | A | C | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1165+1887A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108588634 | |||||||
| chrX:108588662 | T | C | 1 | a0001c0001t0001g0258 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.1165+1915T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108588662 | |||||||
| chrX:108588785 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1165+2038A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108588785 | |||||||
| chrX:108588923 | T | C | 2 | a0001c0001t0001g0056 a0001c0001t0001g0059 |
2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1166-2135T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108588923 | |||||||
| chrX:108589063 | T | G | 1 | a0001c0001t0001g0195 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.1166-1995T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108589063 | |||||||
| chrX:108589465 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1166-1593G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108589465 | |||||||
| chrX:108589475 | T | G | 1 | a0001c0001t0001g0153 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1166-1583T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108589475 | |||||||
| chrX:108589713 | C | A | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1166-1345C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108589713 | |||||||
| chrX:108589780 | A | G | 1 | a0001c0001t0001g0256 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1166-1278A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108589780 | |||||||
| chrX:108589810 | G | A | 1 | a0001c0001t0006g0212 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1166-1248G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108589810 | |||||||
| chrX:108589875 | G | C | 1 | a0002c0002t0001g0028 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.1166-1183G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108589875 | |||||||
| chrX:108590019 | C | A | 1 | a0001c0001t0001g0126 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.1166-1039C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108590019 | |||||||
| chrX:108590294 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1166-764G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108590294 | |||||||
| chrX:108590480 | T | C | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1166-578T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108590480 | |||||||
| chrX:108590507 | C | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1166-551C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 19/52 | chrX | 108590507 | |||||||
| chrX:108591263 | T | G | 2 | a0002c0002t0001g0008 a0002c0002t0001g0019 |
2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.1339+32T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 20/52 | chrX | 108591263 | |||||||
| chrX:108591406 | T | C | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1340-155T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 20/52 | chrX | 108591406 | |||||||
| chrX:108591412 | A | G | 3 | a0001c0001t0001g0005 a0001c0001t0001g0191 a0001c0001t0001g0197 |
3 | HG00423.hp1 HG02056.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.1340-149A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 20/52 | chrX | 108591412 | |||||||
| chrX:108591773 | C | T | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.1423+129C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108591773 | |||||||
| chrX:108591843 | C | T | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.1423+199C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108591843 | |||||||
| chrX:108592167 | A | T | 2 | a0001c0001t0001g0052 a0001c0001t0001g0179 |
2 | HG02132.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.1423+523A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108592167 | |||||||
| chrX:108592386 | C | T | 1 | a0001c0001t0001g0204 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.1423+742C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108592386 | |||||||
| chrX:108592558 | C | T | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1423+914C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108592558 | |||||||
| chrX:108592728 | GT | G | 58 | a0001c0001t0001g0191 a0001c0001t0001g0260 a0002c0002t0001g0006 others(55): Show |
58 | HG00738.hp1 HG01975.hp2 HG01978.hp2 others(55): Show |
intron_variant | MODIFIER | c.1423+1096delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chrX | 108592728 | ||||||
| chrX:108592968 | G | T | 2 | a0004c0006t0001g0003 a0004c0006t0001g0251 |
3 | NA18988.hp1 NA18990.hp1 NA19003.hp1 |
intron_variant | MODIFIER | c.1423+1324G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108592968 | |||||||
| chrX:108593269 | G | A | 1 | a0001c0001t0001g0038 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.1423+1625G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108593269 | |||||||
| chrX:108593501 | A | G | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.1423+1857A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108593501 | |||||||
| chrX:108593533 | C | T | 2 | a0002c0002t0001g0065 a0002c0002t0001g0066 |
2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.1423+1889C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108593533 | |||||||
| chrX:108593666 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1424-1843A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108593666 | |||||||
| chrX:108594264 | G | A | 1 | a0001c0001t0001g0101 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1424-1245G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108594264 | |||||||
| chrX:108594324 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1424-1185T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108594324 | |||||||
| chrX:108594593 | C | T | 2 | a0002c0002t0001g0011 a0002c0002t0001g0012 |
2 | NA18957.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.1424-916C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108594593 | |||||||
| chrX:108594662 | G | A | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.1424-847G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108594662 | |||||||
| chrX:108594772 | C | G | 1 | a0001c0001t0001g0248 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1424-737C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108594772 | |||||||
| chrX:108594835 | A | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1424-674A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108594835 | |||||||
| chrX:108595006 | A | G | 1 | a0001c0001t0001g0180 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1424-503A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108595006 | |||||||
| chrX:108595038 | T | G | 1 | a0001c0001t0001g0210 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1424-471T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108595038 | |||||||
| chrX:108595162 | C | T | 1 | a0001c0001t0001g0240 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.1424-347C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 21/52 | chrX | 108595162 | |||||||
| chrX:108595642 | C | T | 1 | a0001c0001t0001g0185 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.1516+41C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 22/52 | chrX | 108595642 | |||||||
| chrX:108596047 | C | A | 3 | a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0245 |
3 | HG01167.hp1 HG01169.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1516+446C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 22/52 | chrX | 108596047 | |||||||
| chrX:108596049 | A | C | 52 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(49): Show |
52 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(49): Show |
intron_variant | MODIFIER | c.1516+448A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 22/52 | chrX | 108596049 | |||||||
| chrX:108596433 | A | G | 1 | a0001c0001t0001g0205 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1517-565A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 22/52 | chrX | 108596433 | |||||||
| chrX:108596483 | G | T | 1 | a0001c0001t0001g0138 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.1517-515G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 22/52 | chrX | 108596483 | |||||||
| chrX:108596519 | C | T | 1 | a0001c0001t0001g0138 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.1517-479C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 22/52 | chrX | 108596519 | |||||||
| chrX:108596592 | A | G | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.1517-406A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 22/52 | chrX | 108596592 | |||||||
| chrX:108596954 | C | T | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.1517-44C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 22/52 | chrX | 108596954 | |||||||
| chrX:108597204 | A | G | 97 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(94): Show |
98 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(95): Show |
intron_variant | MODIFIER | c.1587+136A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 23/52 | chrX | 108597204 | |||||||
| chrX:108597698 | A | G | 2 | a0001c0001t0001g0195 a0001c0001t0001g0242 |
2 | HG00735.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.1779+130A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 24/52 | chrX | 108597698 | |||||||
| chrX:108597755 | A | G | 1 | a0001c0001t0001g0051 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1779+187A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 24/52 | chrX | 108597755 | |||||||
| chrX:108597956 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1779+388T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 24/52 | chrX | 108597956 | |||||||
| chrX:108597959 | G | C | 1 | a0001c0001t0001g0144 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1779+391G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 24/52 | chrX | 108597959 | |||||||
| chrX:108598047 | C | T | 1 | a0002c0002t0001g0034 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1779+479C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 24/52 | chrX | 108598047 | |||||||
| chrX:108598063 | C | T | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.1779+495C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 24/52 | chrX | 108598063 | |||||||
| chrX:108598115 | C | G | 1 | a0002c0002t0001g0074 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1779+547C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 24/52 | chrX | 108598115 | |||||||
| chrX:108598280 | C | T | 1 | a0002c0008t0001g0078 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1780-422C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 24/52 | chrX | 108598280 | |||||||
| chrX:108598384 | G | T | 3 | a0001c0001t0001g0083 a0001c0001t0001g0111 a0001c0001t0001g0112 |
3 | HG01069.hp1 HG01071.hp2 HG03688.hp1 |
intron_variant | MODIFIER | c.1780-318G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 24/52 | chrX | 108598384 | |||||||
| chrX:108598455 | G | A | 49 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(46): Show |
49 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(46): Show |
intron_variant | MODIFIER | c.1780-247G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 24/52 | chrX | 108598455 | |||||||
| chrX:108599035 | GT | G | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.1948+168delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | INFO_REALIGN_3_PRIME | chrX | 108599035 | ||||||
| chrX:108599086 | C | A | 1 | a0001c0001t0001g0046 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1948+216C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599086 | |||||||
| chrX:108599188 | C | A | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.1948+318C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599188 | |||||||
| chrX:108599246 | G | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1948+376G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599246 | |||||||
| chrX:108599291 | G | A | 1 | a0001c0001t0001g0145 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.1948+421G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599291 | |||||||
| chrX:108599457 | A | ATG | 109 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(106): Show |
110 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(107): Show |
intron_variant | MODIFIER | c.1948+607_1948+608d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | INFO_REALIGN_3_PRIME | chrX | 108599457 | ||||||
| chrX:108599457 | A | ATGTG | 41 | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 others(38): Show |
41 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(38): Show |
intron_variant | MODIFIER | c.1948+605_1948+608d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | INFO_REALIGN_3_PRIME | chrX | 108599457 | ||||||
| chrX:108599457 | A | ATGTGTG | 8 | a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0031 others(5): Show |
8 | HG02723.hp2 HG02818.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.1948+603_1948+608d others(8): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | INFO_REALIGN_3_PRIME | chrX | 108599457 | ||||||
| chrX:108599503 | G | T | 1 | a0004c0006t0001g0003 | 2 | NA18988.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.1948+633G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599503 | |||||||
| chrX:108599553 | T | G | 1 | a0001c0001t0001g0097 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1948+683T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599553 | |||||||
| chrX:108599761 | G | T | 6 | a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 others(3): Show |
6 | HG00558.hp2 HG00609.hp1 NA18947.hp2 others(3): Show |
intron_variant | MODIFIER | c.1948+891G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599761 | |||||||
| chrX:108599796 | G | A | 1 | a0001c0001t0001g0202 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1948+926G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599796 | |||||||
| chrX:108599840 | A | G | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.1948+970A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599840 | |||||||
| chrX:108599868 | A | G | 1 | a0001c0001t0001g0169 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1948+998A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599868 | |||||||
| chrX:108599933 | A | G | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.1948+1063A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108599933 | |||||||
| chrX:108600129 | A | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1948+1259A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108600129 | |||||||
| chrX:108600395 | G | A | 1 | a0007c0010t0001g0209 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1949-998G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108600395 | |||||||
| chrX:108600400 | C | CT | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.1949-985dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | INFO_REALIGN_3_PRIME | chrX | 108600400 | ||||||
| chrX:108600642 | TTAGA | T | 187 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(184): Show |
190 | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(187): Show |
intron_variant | MODIFIER | c.1949-705_1949-702d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | INFO_REALIGN_3_PRIME | chrX | 108600642 | ||||||
| chrX:108600642 | TTAGATAG others(1): Show |
T | 38 | a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0094 others(35): Show |
38 | HG00408.hp1 HG00733.hp2 HG01109.hp1 others(35): Show |
intron_variant | MODIFIER | c.1949-709_1949-702d others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | INFO_REALIGN_3_PRIME | chrX | 108600642 | ||||||
| chrX:108600642 | TTAGATAG others(5): Show |
T | 2 | a0001c0001t0001g0143 a0001c0001t0001g0258 |
2 | HG00408.hp2 NA18952.hp1 |
intron_variant | MODIFIER | c.1949-713_1949-702d others(14): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | INFO_REALIGN_3_PRIME | chrX | 108600642 | ||||||
| chrX:108600824 | C | G | 1 | a0001c0001t0001g0104 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.1949-569C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108600824 | |||||||
| chrX:108600993 | T | A | 1 | a0001c0001t0001g0170 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1949-400T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108600993 | |||||||
| chrX:108601000 | A | T | 2 | a0001c0001t0001g0056 a0001c0001t0001g0059 |
2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.1949-393A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108601000 | |||||||
| chrX:108601205 | T | C | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.1949-188T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | chrX | 108601205 | |||||||
| chrX:108601528 | C | CT | 40 | a0001c0001t0001g0088 a0001c0001t0001g0142 a0001c0001t0001g0195 others(37): Show |
40 | HG01071.hp1 HG01975.hp2 HG01978.hp2 others(37): Show |
intron_variant | MODIFIER | c.2041+61dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 26/52 | INFO_REALIGN_3_PRIME | chrX | 108601528 | ||||||
| chrX:108601528 | CT | C | 9 | a0001c0001t0001g0082 a0001c0001t0001g0131 a0001c0001t0001g0133 others(6): Show |
9 | HG01169.hp1 HG02451.hp2 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.2041+61delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 26/52 | INFO_REALIGN_3_PRIME | chrX | 108601528 | ||||||
| chrX:108601550 | A | G | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.2041+65A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 26/52 | chrX | 108601550 | |||||||
| chrX:108601650 | C | A | 1 | a0001c0001t0006g0212 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2041+165C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 26/52 | chrX | 108601650 | |||||||
| chrX:108602747 | G | A | 1 | a0001c0001t0001g0157 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2147-217G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 27/52 | chrX | 108602747 | |||||||
| chrX:108602919 | A | C | 1 | a0001c0001t0010g0206 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.2147-45A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 27/52 | chrX | 108602919 | |||||||
| chrX:108602952 | A | G | 2 | a0001c0001t0008g0187 a0001c0001t0009g0190 |
2 | HG02683.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.2147-12A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 27/52 | chrX | 108602952 | |||||||
| chrX:108603070 | C | T | 1 | a0001c0001t0001g0167 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2244+9C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108603070 | |||||||
| chrX:108603218 | C | T | 2 | a0001c0001t0001g0183 a0001c0001t0001g0243 |
2 | HG00423.hp2 NA18941.hp2 |
intron_variant | MODIFIER | c.2244+157C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108603218 | |||||||
| chrX:108603257 | C | CA | 11 | a0001c0001t0001g0082 a0001c0001t0001g0093 a0001c0001t0001g0154 others(8): Show |
11 | HG01123.hp2 HG02647.hp1 HG02683.hp1 others(8): Show |
intron_variant | MODIFIER | c.2244+216dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | INFO_REALIGN_3_PRIME | chrX | 108603257 | ||||||
| chrX:108603257 | CA | C | 8 | a0001c0001t0001g0124 a0001c0001t0001g0171 a0001c0001t0001g0196 others(5): Show |
8 | HG01081.hp1 HG01123.hp1 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.2244+216delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | INFO_REALIGN_3_PRIME | chrX | 108603257 | ||||||
| chrX:108603257 | CAA | C | 6 | a0002c0002t0001g0024 a0002c0005t0001g0071 a0002c0008t0001g0078 others(3): Show |
6 | HG02055.hp1 HG02523.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.2244+215_2244+216d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | INFO_REALIGN_3_PRIME | chrX | 108603257 | ||||||
| chrX:108603257 | CAAA | C | 47 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(44): Show |
47 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(44): Show |
intron_variant | MODIFIER | c.2244+214_2244+216d others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | INFO_REALIGN_3_PRIME | chrX | 108603257 | ||||||
| chrX:108603272 | A | C | 2 | a0002c0002t0001g0014 a0002c0002t0001g0015 |
2 | HG01975.hp2 HG01978.hp2 |
intron_variant | MODIFIER | c.2244+211A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108603272 | |||||||
| chrX:108604150 | C | A | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.2244+1089C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108604150 | |||||||
| chrX:108604150 | C | G | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2244+1089C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108604150 | |||||||
| chrX:108604324 | G | C | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2244+1263G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108604324 | |||||||
| chrX:108604790 | A | G | 2 | a0004c0006t0001g0003 a0004c0006t0001g0251 |
3 | NA18988.hp1 NA18990.hp1 NA19003.hp1 |
intron_variant | MODIFIER | c.2244+1729A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108604790 | |||||||
| chrX:108605083 | G | A | 3 | a0002c0002t0001g0020 a0002c0002t0001g0024 a0002c0002t0001g0063 |
3 | NA18981.hp2 NA19085.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.2245-1659G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108605083 | |||||||
| chrX:108605171 | T | C | 1 | a0001c0001t0001g0256 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2245-1571T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108605171 | |||||||
| chrX:108605325 | T | C | 1 | a0001c0001t0001g0059 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2245-1417T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108605325 | |||||||
| chrX:108605602 | G | A | 2 | a0001c0001t0001g0056 a0001c0001t0001g0059 |
2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.2245-1140G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108605602 | |||||||
| chrX:108605847 | T | C | 1 | a0001c0001t0009g0190 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.2245-895T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108605847 | |||||||
| chrX:108605874 | C | T | 1 | a0001c0003t0007g0223 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2245-868C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108605874 | |||||||
| chrX:108606010 | C | T | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.2245-732C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108606010 | |||||||
| chrX:108606015 | C | T | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2245-727C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108606015 | |||||||
| chrX:108606106 | C | T | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.2245-636C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108606106 | |||||||
| chrX:108606196 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2245-546A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108606196 | |||||||
| chrX:108606197 | T | C | 1 | a0002c0005t0001g0071 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2245-545T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108606197 | |||||||
| chrX:108606499 | G | GT | 39 | a0001c0001t0001g0144 a0002c0002t0001g0007 a0002c0002t0001g0008 others(36): Show |
39 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(36): Show |
intron_variant | MODIFIER | c.2245-231dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | INFO_REALIGN_3_PRIME | chrX | 108606499 | ||||||
| chrX:108606598 | C | T | 18 | a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0031 others(15): Show |
18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.2245-144C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 28/52 | chrX | 108606598 | |||||||
| chrX:108607090 | G | A | 1 | a0001c0001t0001g0144 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.2395+198G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108607090 | |||||||
| chrX:108607105 | T | G | 222 | a0001c0001t0001g0005 a0001c0001t0001g0040 a0001c0001t0001g0041 others(219): Show |
223 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(220): Show |
intron_variant | MODIFIER | c.2395+213T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108607105 | |||||||
| chrX:108607224 | G | A | 1 | a0001c0001t0001g0166 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.2395+332G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108607224 | |||||||
| chrX:108607350 | C | CA | 104 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(101): Show |
105 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(102): Show |
intron_variant | MODIFIER | c.2395+475dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | INFO_REALIGN_3_PRIME | chrX | 108607350 | ||||||
| chrX:108607350 | CA | C | 7 | a0001c0001t0001g0082 a0001c0001t0001g0127 a0001c0001t0001g0131 others(4): Show |
7 | HG02451.hp2 HG02630.hp2 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.2395+475delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | INFO_REALIGN_3_PRIME | chrX | 108607350 | ||||||
| chrX:108607368 | C | A | 1 | a0001c0001t0001g0046 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.2395+476C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108607368 | |||||||
| chrX:108607740 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2395+848T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108607740 | |||||||
| chrX:108607907 | T | G | 4 | a0001c0001t0001g0082 a0001c0001t0001g0131 a0001c0001t0001g0133 others(1): Show |
4 | HG02451.hp2 HG02809.hp2 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.2395+1015T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108607907 | |||||||
| chrX:108607946 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2395+1054G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108607946 | |||||||
| chrX:108607993 | T | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2395+1101T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108607993 | |||||||
| chrX:108608388 | C | T | 7 | a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 others(4): Show |
7 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.2395+1496C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108608388 | |||||||
| chrX:108608452 | C | G | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.2395+1560C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108608452 | |||||||
| chrX:108608687 | A | G | 183 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(180): Show |
184 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(181): Show |
intron_variant | MODIFIER | c.2395+1795A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108608687 | |||||||
| chrX:108608720 | G | C | 1 | a0001c0001t0001g0121 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.2395+1828G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108608720 | |||||||
| chrX:108608872 | C | T | 4 | a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0201 others(1): Show |
4 | HG00140.hp1 HG01074.hp1 HG01123.hp2 others(1): Show |
intron_variant | MODIFIER | c.2395+1980C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108608872 | |||||||
| chrX:108608873 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2395+1981T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108608873 | |||||||
| chrX:108608928 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2395+2036G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108608928 | |||||||
| chrX:108609103 | A | G | 49 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(46): Show |
49 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(46): Show |
intron_variant | MODIFIER | c.2395+2211A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108609103 | |||||||
| chrX:108609778 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2395+2886C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108609778 | |||||||
| chrX:108609934 | C | T | 1 | a0001c0001t0001g0231 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.2395+3042C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108609934 | |||||||
| chrX:108609963 | T | A | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.2395+3071T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108609963 | |||||||
| chrX:108609964 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2395+3072A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108609964 | |||||||
| chrX:108609969 | T | TA | 11 | a0001c0001t0001g0040 a0001c0001t0001g0106 a0001c0001t0001g0110 others(8): Show |
11 | HG02055.hp1 HG02074.hp1 HG02080.hp2 others(8): Show |
intron_variant | MODIFIER | c.2395+3091dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | INFO_REALIGN_3_PRIME | chrX | 108609969 | ||||||
| chrX:108609981 | A | C | 1 | a0001c0001t0001g0202 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2395+3089A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108609981 | |||||||
| chrX:108610385 | G | A | 1 | a0001c0001t0001g0168 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.2395+3493G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108610385 | |||||||
| chrX:108610543 | A | C | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.2395+3651A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108610543 | |||||||
| chrX:108610858 | G | T | 1 | a0001c0001t0001g0004 | 2 | HG01258.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.2395+3966G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108610858 | |||||||
| chrX:108611223 | A | G | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.2396-3688A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108611223 | |||||||
| chrX:108611294 | T | C | 1 | a0001c0001t0001g0165 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2396-3617T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108611294 | |||||||
| chrX:108611485 | A | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2396-3426A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108611485 | |||||||
| chrX:108611525 | A | G | 1 | a0001c0001t0001g0167 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2396-3386A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108611525 | |||||||
| chrX:108611575 | C | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2396-3336C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108611575 | |||||||
| chrX:108611617 | G | A | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.2396-3294G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108611617 | |||||||
| chrX:108611619 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2396-3292C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108611619 | |||||||
| chrX:108611751 | C | G | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2396-3160C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108611751 | |||||||
| chrX:108611911 | G | C | 1 | a0001c0001t0001g0099 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.2396-3000G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108611911 | |||||||
| chrX:108612346 | G | A | 1 | a0001c0001t0001g0110 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.2396-2565G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108612346 | |||||||
| chrX:108612368 | T | C | 8 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(5): Show |
8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.2396-2543T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108612368 | |||||||
| chrX:108612901 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2396-2010G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108612901 | |||||||
| chrX:108613397 | A | T | 26 | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 others(23): Show |
26 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(23): Show |
intron_variant | MODIFIER | c.2396-1514A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108613397 | |||||||
| chrX:108613569 | C | A | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.2396-1342C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108613569 | |||||||
| chrX:108613716 | G | A | 1 | a0001c0001t0001g0203 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2396-1195G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108613716 | |||||||
| chrX:108614186 | G | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2396-725G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108614186 | |||||||
| chrX:108614191 | C | T | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2396-720C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108614191 | |||||||
| chrX:108614286 | C | T | 3 | a0001c0001t0001g0055 a0001c0001t0004g0054 a0002c0002t0001g0079 |
3 | HG02897.hp2 NA18906.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.2396-625C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108614286 | |||||||
| chrX:108614542 | C | T | 1 | a0001c0001t0001g0165 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2396-369C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108614542 | |||||||
| chrX:108614806 | A | G | 1 | a0001c0001t0001g0132 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.2396-105A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 29/52 | chrX | 108614806 | |||||||
| chrX:108615074 | T | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2509+50T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108615074 | |||||||
| chrX:108615122 | A | G | 1 | a0001c0001t0001g0174 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2509+98A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108615122 | |||||||
| chrX:108615169 | T | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2509+145T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108615169 | |||||||
| chrX:108615330 | T | C | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2509+306T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108615330 | |||||||
| chrX:108615697 | A | G | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2509+673A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108615697 | |||||||
| chrX:108615709 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2509+685G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108615709 | |||||||
| chrX:108615822 | C | T | 8 | a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0031 others(5): Show |
8 | HG02723.hp2 HG02818.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.2509+798C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108615822 | |||||||
| chrX:108615871 | T | G | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.2509+847T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108615871 | |||||||
| chrX:108615874 | A | G | 8 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(5): Show |
8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.2509+850A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108615874 | |||||||
| chrX:108616160 | T | C | 1 | a0001c0001t0001g0188 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.2509+1136T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108616160 | |||||||
| chrX:108616215 | G | GT | 6 | a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0005t0001g0071 others(3): Show |
6 | HG02055.hp1 HG02523.hp1 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.2509+1201dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | INFO_REALIGN_3_PRIME | chrX | 108616215 | ||||||
| chrX:108616216 | T | G | 2 | a0001c0001t0001g0052 a0001c0001t0001g0179 |
2 | HG02132.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.2509+1192T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108616216 | |||||||
| chrX:108616223 | T | G | 4 | a0002c0002t0001g0036 a0002c0005t0002g0001 a0002c0005t0002g0081 others(1): Show |
4 | HG02622.hp1 HG03486.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.2509+1199T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108616223 | |||||||
| chrX:108616225 | TG | T | 3 | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 |
3 | NA18953.hp1 NA19063.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.2509+1202delG | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108616225 | |||||||
| chrX:108616226 | G | T | 107 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(104): Show |
108 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(105): Show |
intron_variant | MODIFIER | c.2509+1202G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108616226 | |||||||
| chrX:108616241 | T | G | 4 | a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0226 others(1): Show |
4 | HG02145.hp1 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.2509+1217T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108616241 | |||||||
| chrX:108616257 | T | G | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.2509+1233T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108616257 | |||||||
| chrX:108616616 | A | G | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.2509+1592A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108616616 | |||||||
| chrX:108616958 | A | G | 7 | a0001c0001t0001g0046 a0001c0001t0001g0082 a0001c0001t0001g0127 others(4): Show |
7 | HG02257.hp1 HG02451.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.2509+1934A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108616958 | |||||||
| chrX:108617257 | G | A | 30 | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 others(27): Show |
30 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(27): Show |
intron_variant | MODIFIER | c.2509+2233G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108617257 | |||||||
| chrX:108617529 | A | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2509+2505A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108617529 | |||||||
| chrX:108617555 | C | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2509+2531C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108617555 | |||||||
| chrX:108617645 | T | C | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.2510-2614T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108617645 | |||||||
| chrX:108617703 | C | T | 1 | a0001c0001t0001g0201 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.2510-2556C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108617703 | |||||||
| chrX:108617939 | G | A | 1 | a0001c0001t0001g0184 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.2510-2320G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108617939 | |||||||
| chrX:108617989 | G | A | 1 | a0002c0005t0001g0071 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2510-2270G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108617989 | |||||||
| chrX:108618004 | T | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2510-2255T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108618004 | |||||||
| chrX:108618192 | T | G | 1 | a0002c0002t0001g0009 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.2510-2067T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108618192 | |||||||
| chrX:108618426 | T | A | 3 | a0001c0001t0001g0005 a0001c0001t0001g0191 a0001c0001t0001g0197 |
3 | HG00423.hp1 HG02056.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.2510-1833T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108618426 | |||||||
| chrX:108618459 | A | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2510-1800A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108618459 | |||||||
| chrX:108619021 | G | A | 1 | a0001c0001t0001g0176 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2510-1238G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108619021 | |||||||
| chrX:108619050 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2510-1209G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108619050 | |||||||
| chrX:108619150 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2510-1109C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108619150 | |||||||
| chrX:108619214 | T | C | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.2510-1045T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108619214 | |||||||
| chrX:108619324 | A | T | 1 | a0001c0001t0001g0177 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.2510-935A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108619324 | |||||||
| chrX:108619362 | T | C | 1 | a0001c0001t0001g0093 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.2510-897T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108619362 | |||||||
| chrX:108619403 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2510-856A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108619403 | |||||||
| chrX:108619567 | T | C | 2 | a0001c0001t0001g0056 a0001c0001t0001g0059 |
2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.2510-692T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108619567 | |||||||
| chrX:108619862 | A | G | 1 | a0005c0007t0001g0068 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.2510-397A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108619862 | |||||||
| chrX:108620063 | T | A | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.2510-196T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108620063 | |||||||
| chrX:108620073 | C | A | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.2510-186C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 30/52 | chrX | 108620073 | |||||||
| chrX:108620522 | C | T | 1 | a0001c0001t0001g0228 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.2677+96C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 31/52 | chrX | 108620522 | |||||||
| chrX:108620655 | A | G | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.2677+229A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 31/52 | chrX | 108620655 | |||||||
| chrX:108620913 | C | A | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.2677+487C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 31/52 | chrX | 108620913 | |||||||
| chrX:108621018 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2677+592T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 31/52 | chrX | 108621018 | |||||||
| chrX:108621093 | T | C | 9 | a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 others(6): Show |
9 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(6): Show |
intron_variant | MODIFIER | c.2677+667T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 31/52 | chrX | 108621093 | |||||||
| chrX:108621143 | CTCCT | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2678-649_2678-646d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 31/52 | INFO_REALIGN_3_PRIME | chrX | 108621143 | ||||||
| chrX:108621459 | C | G | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.2678-344C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 31/52 | chrX | 108621459 | |||||||
| chrX:108622170 | C | A | 1 | a0001c0001t0001g0122 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.2767+278C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 32/52 | chrX | 108622170 | |||||||
| chrX:108622203 | A | G | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2767+311A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 32/52 | chrX | 108622203 | |||||||
| chrX:108622468 | G | A | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2768-208G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 32/52 | chrX | 108622468 | |||||||
| chrX:108622665 | A | G | 58 | a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 others(55): Show |
58 | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(55): Show |
intron_variant | MODIFIER | c.2768-11A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 32/52 | chrX | 108622665 | |||||||
| chrX:108623212 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2917+387C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | chrX | 108623212 | |||||||
| chrX:108623226 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2917+401C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | chrX | 108623226 | |||||||
| chrX:108623269 | A | T | 1 | a0001c0001t0001g0051 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.2917+444A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | chrX | 108623269 | |||||||
| chrX:108623421 | A | G | 3 | a0001c0001t0001g0005 a0001c0001t0001g0191 a0001c0001t0001g0197 |
3 | HG00423.hp1 HG02056.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.2917+596A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | chrX | 108623421 | |||||||
| chrX:108623439 | T | TA | 23 | a0001c0001t0001g0005 a0001c0001t0001g0053 a0001c0001t0001g0188 others(20): Show |
23 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(20): Show |
intron_variant | MODIFIER | c.2917+624dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | INFO_REALIGN_3_PRIME | chrX | 108623439 | ||||||
| chrX:108623452 | T | TTTTCC | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2917+630_2917+631i others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | INFO_REALIGN_3_PRIME | chrX | 108623452 | ||||||
| chrX:108623486 | C | T | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.2917+661C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | chrX | 108623486 | |||||||
| chrX:108623640 | C | T | 1 | a0001c0001t0001g0161 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.2918-596C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | chrX | 108623640 | |||||||
| chrX:108623916 | A | T | 1 | a0001c0001t0001g0144 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.2918-320A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | chrX | 108623916 | |||||||
| chrX:108624013 | G | A | 2 | a0001c0001t0001g0090 a0001c0001t0001g0099 |
2 | HG01978.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.2918-223G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | chrX | 108624013 | |||||||
| chrX:108624068 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.2918-168G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 33/52 | chrX | 108624068 | |||||||
| chrX:108624510 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3016+176T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 34/52 | chrX | 108624510 | |||||||
| chrX:108624559 | CT | C | 3 | a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0264 |
3 | HG01358.hp1 HG01981.hp2 HG02735.hp1 |
intron_variant | MODIFIER | c.3016+230delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 34/52 | INFO_REALIGN_3_PRIME | chrX | 108624559 | ||||||
| chrX:108624969 | G | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3016+635G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 34/52 | chrX | 108624969 | |||||||
| chrX:108625335 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3017-370C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 34/52 | chrX | 108625335 | |||||||
| chrX:108625375 | A | C | 106 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(103): Show |
107 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(104): Show |
intron_variant | MODIFIER | c.3017-330A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 34/52 | chrX | 108625375 | |||||||
| chrX:108626110 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3107-100G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 35/52 | chrX | 108626110 | |||||||
| chrX:108626113 | G | C | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.3107-97G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 35/52 | chrX | 108626113 | |||||||
| chrX:108626199 | A | T | 2 | a0002c0002t0001g0023 a0002c0002t0001g0062 |
2 | NA18944.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.3107-11A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 35/52 | chrX | 108626199 | |||||||
| chrX:108626416 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+67A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108626416 | |||||||
| chrX:108626480 | C | G | 2 | a0001c0003t0001g0224 a0001c0003t0001g0225 |
2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3246+131C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108626480 | |||||||
| chrX:108626579 | A | G | 2 | a0002c0002t0001g0065 a0002c0002t0001g0066 |
2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.3246+230A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108626579 | |||||||
| chrX:108626838 | C | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+489C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108626838 | |||||||
| chrX:108627051 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+702G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108627051 | |||||||
| chrX:108627271 | G | A | 225 | a0001c0001t0001g0005 a0001c0001t0001g0040 a0001c0001t0001g0041 others(222): Show |
226 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(223): Show |
intron_variant | MODIFIER | c.3246+922G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108627271 | |||||||
| chrX:108627336 | A | G | 1 | a0001c0001t0001g0127 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3246+987A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108627336 | |||||||
| chrX:108627837 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+1488G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108627837 | |||||||
| chrX:108628031 | A | G | 1 | a0001c0001t0001g0259 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.3246+1682A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108628031 | |||||||
| chrX:108628462 | C | G | 1 | a0001c0001t0001g0151 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.3246+2113C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108628462 | |||||||
| chrX:108628548 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+2199C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108628548 | |||||||
| chrX:108628677 | A | G | 1 | a0002c0002t0001g0030 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.3246+2328A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108628677 | |||||||
| chrX:108628729 | G | A | 183 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(180): Show |
184 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(181): Show |
intron_variant | MODIFIER | c.3246+2380G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108628729 | |||||||
| chrX:108629451 | G | A | 2 | a0001c0001t0001g0232 a0001c0001t0001g0233 |
2 | NA18983.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.3246+3102G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108629451 | |||||||
| chrX:108629452 | G | A | 1 | a0001c0001t0001g0169 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.3246+3103G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108629452 | |||||||
| chrX:108629744 | G | A | 10 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(7): Show |
10 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.3246+3395G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108629744 | |||||||
| chrX:108629760 | C | A | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3246+3411C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108629760 | |||||||
| chrX:108629840 | G | C | 1 | a0001c0001t0001g0260 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.3246+3491G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108629840 | |||||||
| chrX:108629991 | T | A | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3246+3642T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108629991 | |||||||
| chrX:108630017 | A | T | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.3246+3668A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108630017 | |||||||
| chrX:108630044 | A | G | 1 | a0002c0002t0001g0060 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.3246+3695A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108630044 | |||||||
| chrX:108630247 | T | C | 1 | a0001c0001t0001g0126 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.3246+3898T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108630247 | |||||||
| chrX:108630647 | C | T | 1 | a0001c0003t0007g0223 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3246+4298C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108630647 | |||||||
| chrX:108630683 | G | A | 1 | a0002c0005t0001g0071 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.3246+4334G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108630683 | |||||||
| chrX:108630970 | T | G | 8 | a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 others(5): Show |
8 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.3246+4621T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108630970 | |||||||
| chrX:108631259 | T | C | 1 | a0001c0001t0001g0159 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.3246+4910T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108631259 | |||||||
| chrX:108631314 | G | A | 1 | a0002c0002t0001g0006 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.3246+4965G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108631314 | |||||||
| chrX:108631385 | G | T | 1 | a0001c0001t0011g0244 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.3246+5036G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108631385 | |||||||
| chrX:108631566 | A | G | 1 | a0001c0001t0001g0196 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.3246+5217A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108631566 | |||||||
| chrX:108631596 | G | A | 1 | a0001c0001t0001g0195 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.3246+5247G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108631596 | |||||||
| chrX:108631689 | G | A | 1 | a0002c0002t0001g0060 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.3246+5340G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108631689 | |||||||
| chrX:108631744 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+5395T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108631744 | |||||||
| chrX:108631750 | T | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+5401T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108631750 | |||||||
| chrX:108631959 | G | T | 1 | a0001c0001t0001g0159 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.3246+5610G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108631959 | |||||||
| chrX:108632076 | G | A | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3246+5727G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108632076 | |||||||
| chrX:108632119 | G | A | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3246+5770G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108632119 | |||||||
| chrX:108632164 | G | C | 1 | a0001c0001t0001g0046 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.3246+5815G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108632164 | |||||||
| chrX:108632182 | A | G | 1 | a0002c0002t0001g0027 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.3246+5833A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108632182 | |||||||
| chrX:108632204 | A | G | 2 | a0001c0003t0001g0224 a0001c0003t0001g0225 |
2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3246+5855A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108632204 | |||||||
| chrX:108632342 | C | A | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.3246+5993C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108632342 | |||||||
| chrX:108632488 | G | A | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3246+6139G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108632488 | |||||||
| chrX:108632950 | G | A | 3 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0147 |
3 | NA18962.hp1 NA18977.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.3246+6601G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108632950 | |||||||
| chrX:108632956 | C | T | 2 | a0005c0007t0001g0068 a0005c0007t0001g0070 |
2 | HG02523.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.3246+6607C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108632956 | |||||||
| chrX:108633016 | G | A | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3246+6667G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108633016 | |||||||
| chrX:108633296 | C | A | 1 | a0001c0001t0001g0196 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.3246+6947C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108633296 | |||||||
| chrX:108633505 | A | T | 1 | a0001c0001t0001g0145 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.3246+7156A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108633505 | |||||||
| chrX:108633656 | A | C | 1 | a0001c0001t0001g0169 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.3246+7307A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108633656 | |||||||
| chrX:108633873 | A | G | 1 | a0001c0001t0001g0096 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.3246+7524A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108633873 | |||||||
| chrX:108633908 | T | G | 2 | a0001c0003t0001g0224 a0001c0003t0001g0225 |
2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3246+7559T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108633908 | |||||||
| chrX:108634085 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+7736C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108634085 | |||||||
| chrX:108634213 | C | CA | 115 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(112): Show |
116 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(113): Show |
intron_variant | MODIFIER | c.3246+7879dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108634213 | ||||||
| chrX:108634213 | C | CAA | 41 | a0001c0001t0001g0132 a0001c0001t0001g0172 a0001c0001t0001g0234 others(38): Show |
41 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(38): Show |
intron_variant | MODIFIER | c.3246+7878_3246+787 others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108634213 | ||||||
| chrX:108634737 | T | C | 1 | a0001c0003t0001g0226 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3246+8388T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108634737 | |||||||
| chrX:108634873 | C | T | 8 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(5): Show |
8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.3246+8524C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108634873 | |||||||
| chrX:108635099 | A | G | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3246+8750A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108635099 | |||||||
| chrX:108635244 | G | A | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3246+8895G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108635244 | |||||||
| chrX:108635250 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+8901A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108635250 | |||||||
| chrX:108635302 | G | A | 1 | a0001c0001t0001g0217 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.3246+8953G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108635302 | |||||||
| chrX:108635601 | C | G | 1 | a0002c0002t0001g0074 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.3246+9252C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108635601 | |||||||
| chrX:108635820 | C | T | 1 | a0001c0001t0001g0141 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.3246+9471C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108635820 | |||||||
| chrX:108635922 | G | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+9573G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108635922 | |||||||
| chrX:108636568 | C | T | 1 | a0001c0001t0001g0113 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.3246+10219C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108636568 | |||||||
| chrX:108636879 | A | G | 1 | a0001c0001t0001g0166 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.3246+10530A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108636879 | |||||||
| chrX:108636939 | C | CT | 6 | a0001c0001t0001g0046 a0001c0001t0001g0092 a0001c0001t0001g0100 others(3): Show |
6 | HG00408.hp1 HG02040.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.3246+10613dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108636939 | ||||||
| chrX:108636939 | CTTT | C | 29 | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 others(26): Show |
29 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(26): Show |
intron_variant | MODIFIER | c.3246+10611_3246+10 others(9): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108636939 | ||||||
| chrX:108636939 | CTTTTT | C | 18 | a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0031 others(15): Show |
18 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(15): Show |
intron_variant | MODIFIER | c.3246+10609_3246+10 others(11): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108636939 | ||||||
| chrX:108636939 | CTTTTTT | C | 8 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(5): Show |
8 | HG02055.hp1 HG02080.hp2 HG02523.hp1 others(5): Show |
intron_variant | MODIFIER | c.3246+10608_3246+10 others(12): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108636939 | ||||||
| chrX:108637478 | A | G | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.3246+11129A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108637478 | |||||||
| chrX:108637514 | C | T | 8 | a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0031 others(5): Show |
8 | HG02723.hp2 HG02818.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.3246+11165C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108637514 | |||||||
| chrX:108637561 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+11212A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108637561 | |||||||
| chrX:108637593 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+11244A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108637593 | |||||||
| chrX:108637618 | A | G | 2 | a0001c0001t0001g0152 a0001c0001t0001g0156 |
2 | HG01934.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.3246+11269A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108637618 | |||||||
| chrX:108637853 | C | CT | 8 | a0001c0001t0001g0129 a0001c0003t0001g0057 a0001c0003t0001g0058 others(5): Show |
8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.3246+11519dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108637853 | ||||||
| chrX:108638887 | C | T | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3246+12538C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108638887 | |||||||
| chrX:108639001 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+12652C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108639001 | |||||||
| chrX:108639144 | G | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3246+12795G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108639144 | |||||||
| chrX:108639291 | G | A | 2 | a0001c0001t0001g0111 a0001c0001t0001g0112 |
2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.3246+12942G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108639291 | |||||||
| chrX:108639476 | A | G | 1 | a0001c0001t0001g0166 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.3246+13127A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108639476 | |||||||
| chrX:108640108 | T | G | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.3246+13759T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108640108 | |||||||
| chrX:108640126 | G | T | 1 | a0001c0001t0001g0104 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.3246+13777G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108640126 | |||||||
| chrX:108640331 | G | A | 1 | a0001c0001t0001g0039 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.3246+13982G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108640331 | |||||||
| chrX:108640388 | G | A | 2 | a0001c0001t0001g0214 a0001c0001t0001g0215 |
2 | HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.3246+14039G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108640388 | |||||||
| chrX:108640503 | T | A | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3246+14154T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108640503 | |||||||
| chrX:108640572 | G | A | 2 | a0001c0001t0001g0120 a0001c0001t0001g0146 |
2 | HG00733.hp1 HG01952.hp1 |
intron_variant | MODIFIER | c.3246+14223G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108640572 | |||||||
| chrX:108641358 | G | A | 1 | a0001c0001t0001g0215 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3247-13973G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108641358 | |||||||
| chrX:108641401 | A | G | 1 | a0001c0001t0001g0243 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.3247-13930A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108641401 | |||||||
| chrX:108642026 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-13305C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108642026 | |||||||
| chrX:108642215 | C | T | 1 | a0002c0005t0001g0071 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.3247-13116C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108642215 | |||||||
| chrX:108642492 | C | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-12839C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108642492 | |||||||
| chrX:108642760 | C | T | 4 | a0001c0001t0001g0170 a0001c0001t0001g0253 a0001c0001t0001g0254 others(1): Show |
4 | HG02559.hp2 HG02970.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.3247-12571C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108642760 | |||||||
| chrX:108642848 | C | CA | 15 | a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0103 others(12): Show |
15 | HG00408.hp1 HG00438.hp2 HG02683.hp1 others(12): Show |
intron_variant | MODIFIER | c.3247-12462dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108642848 | ||||||
| chrX:108642848 | CA | C | 14 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0085 others(11): Show |
14 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.3247-12462delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108642848 | ||||||
| chrX:108642848 | CAAA | C | 52 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(49): Show |
52 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(49): Show |
intron_variant | MODIFIER | c.3247-12464_3247-12 others(9): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108642848 | ||||||
| chrX:108642979 | A | G | 2 | a0001c0003t0001g0224 a0001c0003t0001g0225 |
2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3247-12352A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108642979 | |||||||
| chrX:108643096 | C | A | 1 | a0001c0001t0001g0264 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.3247-12235C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108643096 | |||||||
| chrX:108643260 | G | A | 1 | a0001c0003t0001g0226 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3247-12071G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108643260 | |||||||
| chrX:108643530 | T | A | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.3247-11801T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108643530 | |||||||
| chrX:108643650 | C | T | 1 | a0001c0001t0001g0104 | 1 | NA18993.hp2 | intron_variant | MODIFIER | c.3247-11681C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108643650 | |||||||
| chrX:108643783 | G | C | 2 | a0001c0001t0001g0040 a0001c0001t0001g0123 |
2 | HG02074.hp1 NA18947.hp1 |
intron_variant | MODIFIER | c.3247-11548G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108643783 | |||||||
| chrX:108643846 | G | A | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3247-11485G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108643846 | |||||||
| chrX:108643862 | A | G | 8 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(5): Show |
8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.3247-11469A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108643862 | |||||||
| chrX:108643890 | G | A | 10 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(7): Show |
10 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.3247-11441G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108643890 | |||||||
| chrX:108644280 | A | G | 1 | a0001c0001t0001g0167 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.3247-11051A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644280 | |||||||
| chrX:108644286 | C | T | 183 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(180): Show |
184 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(181): Show |
intron_variant | MODIFIER | c.3247-11045C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644286 | |||||||
| chrX:108644598 | A | G | 1 | a0002c0002t0001g0079 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3247-10733A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644598 | |||||||
| chrX:108644607 | A | G | 1 | a0001c0001t0001g0087 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.3247-10724A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644607 | |||||||
| chrX:108644832 | G | A | 1 | a0001c0001t0001g0250 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.3247-10499G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644832 | |||||||
| chrX:108644919 | C | A | 8 | a0001c0001t0001g0005 a0001c0001t0001g0131 a0001c0001t0001g0143 others(5): Show |
8 | HG00423.hp1 HG02056.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.3247-10412C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644919 | |||||||
| chrX:108644919 | C | CA | 11 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0124 others(8): Show |
11 | HG00408.hp2 HG00642.hp1 HG00738.hp1 others(8): Show |
intron_variant | MODIFIER | c.3247-10394dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108644919 | ||||||
| chrX:108644919 | CAA | C | 55 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(52): Show |
55 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(52): Show |
intron_variant | MODIFIER | c.3247-10395_3247-10 others(8): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108644919 | ||||||
| chrX:108644921 | A | AC | 3 | a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 |
3 | HG01099.hp1 HG01256.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.3247-10410_3247-10 others(7): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644921 | |||||||
| chrX:108644922 | A | C | 1 | a0001c0001t0001g0137 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.3247-10409A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644922 | |||||||
| chrX:108644923 | A | C | 1 | a0002c0002t0001g0009 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.3247-10408A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644923 | |||||||
| chrX:108644924 | A | C | 55 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(52): Show |
55 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(52): Show |
intron_variant | MODIFIER | c.3247-10407A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644924 | |||||||
| chrX:108644926 | A | C | 1 | a0002c0002t0001g0009 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.3247-10405A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644926 | |||||||
| chrX:108644927 | A | C | 54 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(51): Show |
54 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(51): Show |
intron_variant | MODIFIER | c.3247-10404A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644927 | |||||||
| chrX:108644957 | A | G | 7 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(4): Show |
7 | HG01106.hp1 HG01884.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.3247-10374A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108644957 | |||||||
| chrX:108645066 | C | T | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3247-10265C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645066 | |||||||
| chrX:108645132 | A | G | 1 | a0001c0001t0001g0195 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.3247-10199A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645132 | |||||||
| chrX:108645179 | C | T | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3247-10152C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645179 | |||||||
| chrX:108645199 | CAGAAGAA others(3): Show |
C | 1 | a0001c0001t0001g0041 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.3247-10130_3247-10 others(16): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108645199 | ||||||
| chrX:108645401 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-9930C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645401 | |||||||
| chrX:108645509 | C | CT | 6 | a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 others(3): Show |
6 | NA18612.hp1 NA18941.hp1 NA18981.hp2 others(3): Show |
intron_variant | MODIFIER | c.3247-9809dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108645509 | ||||||
| chrX:108645579 | T | A | 1 | a0002c0002t0001g0067 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3247-9752T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645579 | |||||||
| chrX:108645580 | T | A | 57 | a0001c0001t0001g0189 a0002c0002t0001g0006 a0002c0002t0001g0007 others(54): Show |
57 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(54): Show |
intron_variant | MODIFIER | c.3247-9751T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645580 | |||||||
| chrX:108645685 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-9646T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645685 | |||||||
| chrX:108645719 | C | A | 183 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(180): Show |
184 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(181): Show |
intron_variant | MODIFIER | c.3247-9612C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645719 | |||||||
| chrX:108645736 | C | T | 1 | a0002c0002t0001g0029 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.3247-9595C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645736 | |||||||
| chrX:108645906 | G | T | 2 | a0002c0002t0001g0025 a0002c0002t0001g0026 |
2 | NA18960.hp1 NA18969.hp1 |
intron_variant | MODIFIER | c.3247-9425G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645906 | |||||||
| chrX:108645908 | A | G | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3247-9423A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108645908 | |||||||
| chrX:108646029 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-9302C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646029 | |||||||
| chrX:108646030 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-9301A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646030 | |||||||
| chrX:108646076 | A | T | 1 | a0001c0001t0001g0124 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.3247-9255A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646076 | |||||||
| chrX:108646092 | C | A | 1 | a0001c0001t0001g0131 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.3247-9239C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646092 | |||||||
| chrX:108646137 | A | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-9194A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646137 | |||||||
| chrX:108646149 | T | C | 1 | a0001c0001t0001g0151 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.3247-9182T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646149 | |||||||
| chrX:108646152 | C | T | 1 | a0005c0007t0001g0070 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.3247-9179C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646152 | |||||||
| chrX:108646265 | C | T | 1 | a0002c0002t0001g0079 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3247-9066C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646265 | |||||||
| chrX:108646335 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-8996G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646335 | |||||||
| chrX:108646514 | C | T | 1 | a0002c0002t0001g0079 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3247-8817C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646514 | |||||||
| chrX:108646530 | T | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-8801T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646530 | |||||||
| chrX:108646547 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-8784A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646547 | |||||||
| chrX:108646561 | C | T | 2 | a0001c0001t0001g0154 a0001c0001t0001g0158 |
2 | HG02080.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.3247-8770C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646561 | |||||||
| chrX:108646648 | C | T | 1 | a0001c0001t0001g0126 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.3247-8683C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646648 | |||||||
| chrX:108646713 | C | G | 1 | a0001c0001t0001g0165 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.3247-8618C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646713 | |||||||
| chrX:108646718 | A | G | 1 | a0001c0001t0001g0165 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.3247-8613A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646718 | |||||||
| chrX:108646757 | A | G | 1 | a0001c0001t0001g0165 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.3247-8574A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646757 | |||||||
| chrX:108646761 | C | G | 1 | a0001c0001t0001g0165 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.3247-8570C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646761 | |||||||
| chrX:108646774 | T | G | 1 | a0001c0001t0001g0165 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.3247-8557T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646774 | |||||||
| chrX:108646797 | A | G | 2 | a0001c0003t0001g0224 a0001c0003t0001g0225 |
2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3247-8534A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646797 | |||||||
| chrX:108646898 | C | T | 57 | a0001c0001t0001g0188 a0002c0002t0001g0006 a0002c0002t0001g0007 others(54): Show |
57 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(54): Show |
intron_variant | MODIFIER | c.3247-8433C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646898 | |||||||
| chrX:108646976 | G | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-8355G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646976 | |||||||
| chrX:108646988 | G | A | 2 | a0001c0001t0001g0120 a0001c0001t0001g0146 |
2 | HG00733.hp1 HG01952.hp1 |
intron_variant | MODIFIER | c.3247-8343G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108646988 | |||||||
| chrX:108647013 | G | A | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3247-8318G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647013 | |||||||
| chrX:108647034 | T | C | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3247-8297T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647034 | |||||||
| chrX:108647106 | C | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-8225C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647106 | |||||||
| chrX:108647140 | G | A | 1 | a0001c0001t0010g0206 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.3247-8191G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647140 | |||||||
| chrX:108647163 | A | G | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.3247-8168A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647163 | |||||||
| chrX:108647255 | A | C | 4 | a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 others(1): Show |
4 | HG02559.hp2 HG02970.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.3247-8076A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647255 | |||||||
| chrX:108647301 | C | T | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3247-8030C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647301 | |||||||
| chrX:108647355 | T | A | 1 | a0001c0001t0001g0217 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.3247-7976T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647355 | |||||||
| chrX:108647356 | C | G | 1 | a0001c0001t0001g0217 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.3247-7975C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647356 | |||||||
| chrX:108647426 | G | A | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.3247-7905G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647426 | |||||||
| chrX:108647564 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-7767A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647564 | |||||||
| chrX:108647599 | A | C | 1 | a0001c0001t0001g0229 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.3247-7732A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647599 | |||||||
| chrX:108647668 | A | T | 8 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(5): Show |
8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.3247-7663A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647668 | |||||||
| chrX:108647857 | G | T | 1 | a0001c0003t0001g0222 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3247-7474G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647857 | |||||||
| chrX:108647925 | T | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-7406T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647925 | |||||||
| chrX:108647936 | T | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-7395T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647936 | |||||||
| chrX:108647993 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-7338T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108647993 | |||||||
| chrX:108648508 | A | T | 1 | a0001c0001t0001g0124 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.3247-6823A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108648508 | |||||||
| chrX:108648519 | G | A | 183 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(180): Show |
184 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(181): Show |
intron_variant | MODIFIER | c.3247-6812G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108648519 | |||||||
| chrX:108648645 | T | G | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3247-6686T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108648645 | |||||||
| chrX:108648654 | T | C | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.3247-6677T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108648654 | |||||||
| chrX:108648714 | C | T | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3247-6617C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108648714 | |||||||
| chrX:108649197 | A | G | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.3247-6134A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108649197 | |||||||
| chrX:108649470 | C | T | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3247-5861C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108649470 | |||||||
| chrX:108649569 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-5762G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108649569 | |||||||
| chrX:108649592 | G | T | 1 | a0001c0001t0001g0154 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.3247-5739G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108649592 | |||||||
| chrX:108649636 | A | C | 1 | a0001c0001t0001g0195 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.3247-5695A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108649636 | |||||||
| chrX:108649763 | C | T | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.3247-5568C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108649763 | |||||||
| chrX:108649785 | G | T | 1 | a0001c0001t0001g0207 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.3247-5546G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108649785 | |||||||
| chrX:108649876 | C | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-5455C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108649876 | |||||||
| chrX:108649879 | A | G | 1 | a0001c0001t0001g0157 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.3247-5452A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108649879 | |||||||
| chrX:108650013 | C | T | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.3247-5318C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108650013 | |||||||
| chrX:108650172 | A | T | 8 | a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0031 others(5): Show |
8 | HG02723.hp2 HG02818.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.3247-5159A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108650172 | |||||||
| chrX:108650180 | C | T | 1 | a0001c0001t0001g0263 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.3247-5151C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108650180 | |||||||
| chrX:108650264 | CA | C | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.3247-5061delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108650264 | ||||||
| chrX:108650279 | C | A | 8 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(5): Show |
8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.3247-5052C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108650279 | |||||||
| chrX:108650634 | G | A | 1 | a0001c0001t0001g0230 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.3247-4697G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108650634 | |||||||
| chrX:108650923 | T | C | 2 | a0001c0001t0001g0129 a0001c0001t0001g0130 |
2 | NA18747.hp1 NA18979.hp1 |
intron_variant | MODIFIER | c.3247-4408T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108650923 | |||||||
| chrX:108650932 | T | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-4399T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108650932 | |||||||
| chrX:108651324 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-4007A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108651324 | |||||||
| chrX:108651325 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-4006C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108651325 | |||||||
| chrX:108651479 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-3852G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108651479 | |||||||
| chrX:108651641 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-3690C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108651641 | |||||||
| chrX:108651685 | C | T | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.3247-3646C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108651685 | |||||||
| chrX:108651708 | G | A | 1 | a0002c0002t0001g0062 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.3247-3623G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108651708 | |||||||
| chrX:108651860 | A | G | 2 | a0001c0003t0001g0224 a0001c0003t0001g0225 |
2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3247-3471A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108651860 | |||||||
| chrX:108651901 | G | A | 1 | a0002c0002t0001g0034 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.3247-3430G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108651901 | |||||||
| chrX:108652106 | G | A | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3247-3225G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108652106 | |||||||
| chrX:108652340 | T | C | 1 | a0001c0001t0001g0129 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.3247-2991T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108652340 | |||||||
| chrX:108652415 | T | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-2916T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108652415 | |||||||
| chrX:108652760 | G | A | 1 | a0002c0002t0001g0074 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.3247-2571G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108652760 | |||||||
| chrX:108652955 | G | T | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3247-2376G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108652955 | |||||||
| chrX:108652958 | T | C | 1 | a0002c0002t0001g0036 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3247-2373T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108652958 | |||||||
| chrX:108653468 | G | C | 2 | a0001c0001t0001g0056 a0001c0001t0001g0059 |
2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.3247-1863G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108653468 | |||||||
| chrX:108653516 | A | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-1815A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108653516 | |||||||
| chrX:108653651 | C | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-1680C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108653651 | |||||||
| chrX:108653736 | T | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-1595T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108653736 | |||||||
| chrX:108653802 | G | T | 1 | a0001c0001t0001g0172 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.3247-1529G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108653802 | |||||||
| chrX:108654020 | A | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-1311A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108654020 | |||||||
| chrX:108654345 | C | CT | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3247-985dupT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | 108654345 | ||||||
| chrX:108654515 | G | A | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.3247-816G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108654515 | |||||||
| chrX:108654547 | G | T | 8 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(5): Show |
8 | HG01106.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.3247-784G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108654547 | |||||||
| chrX:108655002 | T | G | 1 | a0007c0010t0001g0209 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.3247-329T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108655002 | |||||||
| chrX:108655269 | T | C | 1 | a0001c0003t0001g0226 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3247-62T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | chrX | 108655269 | |||||||
| chrX:108655493 | T | C | 1 | a0002c0002t0001g0060 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.3373+36T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108655493 | |||||||
| chrX:108655594 | A | C | 1 | a0001c0001t0001g0126 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.3373+137A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108655594 | |||||||
| chrX:108655838 | G | A | 1 | a0002c0002t0001g0060 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.3373+381G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108655838 | |||||||
| chrX:108655858 | A | G | 1 | a0001c0003t0001g0227 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3373+401A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108655858 | |||||||
| chrX:108655903 | G | T | 1 | a0001c0001t0010g0206 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.3373+446G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108655903 | |||||||
| chrX:108656147 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3373+690C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108656147 | |||||||
| chrX:108656191 | A | G | 1 | a0001c0001t0001g0180 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.3373+734A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108656191 | |||||||
| chrX:108656789 | G | T | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3373+1332G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108656789 | |||||||
| chrX:108656801 | G | A | 2 | a0002c0002t0001g0008 a0002c0002t0001g0019 |
2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.3373+1344G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108656801 | |||||||
| chrX:108656965 | C | G | 4 | a0001c0001t0001g0040 a0001c0001t0001g0122 a0001c0001t0001g0123 others(1): Show |
4 | HG02074.hp1 NA18947.hp1 NA19081.hp1 others(1): Show |
intron_variant | MODIFIER | c.3373+1508C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108656965 | |||||||
| chrX:108656984 | A | T | 1 | a0001c0001t0001g0196 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.3373+1527A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108656984 | |||||||
| chrX:108657492 | G | A | 2 | a0001c0001t0008g0187 a0001c0001t0009g0190 |
2 | HG02683.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.3373+2035G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108657492 | |||||||
| chrX:108657523 | G | A | 4 | a0001c0001t0001g0170 a0001c0001t0001g0253 a0001c0001t0001g0254 others(1): Show |
4 | HG02559.hp2 HG02970.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.3373+2066G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108657523 | |||||||
| chrX:108658041 | A | G | 1 | a0001c0001t0001g0125 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.3373+2584A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108658041 | |||||||
| chrX:108658256 | A | G | 1 | a0001c0001t0001g0170 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3373+2799A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108658256 | |||||||
| chrX:108658363 | A | T | 1 | a0001c0001t0001g0103 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.3373+2906A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108658363 | |||||||
| chrX:108658457 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3373+3000T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108658457 | |||||||
| chrX:108658876 | T | A | 1 | a0001c0001t0001g0169 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.3373+3419T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108658876 | |||||||
| chrX:108659244 | A | G | 1 | a0001c0001t0001g0174 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.3373+3787A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108659244 | |||||||
| chrX:108659300 | A | G | 1 | a0001c0003t0001g0227 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3373+3843A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108659300 | |||||||
| chrX:108659407 | G | C | 1 | a0001c0001t0001g0099 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.3373+3950G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108659407 | |||||||
| chrX:108659420 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3373+3963A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108659420 | |||||||
| chrX:108659986 | G | A | 2 | a0001c0001t0001g0213 a0001c0001t0001g0216 |
2 | HG01243.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.3373+4529G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108659986 | |||||||
| chrX:108660330 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3373+4873C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108660330 | |||||||
| chrX:108660335 | C | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3373+4878C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108660335 | |||||||
| chrX:108660341 | C | T | 1 | a0001c0001t0001g0126 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.3373+4884C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108660341 | |||||||
| chrX:108660479 | C | T | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3373+5022C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108660479 | |||||||
| chrX:108660858 | G | A | 2 | a0001c0003t0001g0224 a0001c0003t0001g0225 |
2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3374-4649G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108660858 | |||||||
| chrX:108660969 | C | A | 8 | a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 others(5): Show |
8 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.3374-4538C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108660969 | |||||||
| chrX:108661096 | A | G | 2 | a0002c0002t0001g0031 a0002c0002t0001g0032 |
2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.3374-4411A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108661096 | |||||||
| chrX:108661683 | G | T | 1 | a0001c0001t0001g0195 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.3374-3824G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108661683 | |||||||
| chrX:108661697 | T | C | 1 | a0001c0003t0001g0221 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.3374-3810T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108661697 | |||||||
| chrX:108661880 | G | A | 2 | a0002c0002t0001g0065 a0002c0002t0001g0066 |
2 | HG02622.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.3374-3627G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108661880 | |||||||
| chrX:108662161 | A | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3374-3346A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108662161 | |||||||
| chrX:108662650 | T | A | 1 | a0001c0003t0007g0223 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3374-2857T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108662650 | |||||||
| chrX:108662759 | A | G | 2 | a0001c0001t0001g0160 a0001c0001t0001g0163 |
2 | HG02015.hp1 NA19084.hp2 |
intron_variant | MODIFIER | c.3374-2748A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108662759 | |||||||
| chrX:108662838 | C | T | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.3374-2669C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108662838 | |||||||
| chrX:108663738 | TAAAATA | T | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.3374-1764_3374-175 others(10): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | INFO_REALIGN_3_PRIME | chrX | 108663738 | ||||||
| chrX:108663743 | TA | T | 49 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(46): Show |
49 | HG01975.hp2 HG01978.hp2 HG02080.hp2 others(46): Show |
intron_variant | MODIFIER | c.3374-1752delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | INFO_REALIGN_3_PRIME | chrX | 108663743 | ||||||
| chrX:108663831 | A | C | 2 | a0001c0001t0001g0055 a0001c0001t0004g0054 |
2 | HG02897.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.3374-1676A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108663831 | |||||||
| chrX:108664042 | G | C | 1 | a0001c0001t0001g0196 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.3374-1465G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664042 | |||||||
| chrX:108664043 | G | T | 1 | a0001c0001t0001g0196 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.3374-1464G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664043 | |||||||
| chrX:108664141 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3374-1366C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664141 | |||||||
| chrX:108664376 | C | T | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.3374-1131C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664376 | |||||||
| chrX:108664495 | G | A | 7 | a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 others(4): Show |
7 | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.3374-1012G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664495 | |||||||
| chrX:108664604 | G | A | 1 | a0001c0001t0001g0264 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.3374-903G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664604 | |||||||
| chrX:108664627 | C | T | 2 | a0002c0002t0001g0031 a0002c0002t0001g0032 |
2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.3374-880C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664627 | |||||||
| chrX:108664647 | T | C | 1 | a0001c0003t0001g0226 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3374-860T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664647 | |||||||
| chrX:108664908 | C | A | 1 | a0001c0001t0001g0167 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.3374-599C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664908 | |||||||
| chrX:108664916 | A | T | 1 | a0001c0001t0001g0252 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.3374-591A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664916 | |||||||
| chrX:108664944 | A | G | 2 | a0001c0001t0001g0152 a0001c0001t0001g0156 |
2 | HG01934.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.3374-563A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664944 | |||||||
| chrX:108664957 | T | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3374-550T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108664957 | |||||||
| chrX:108665233 | T | C | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.3374-274T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | chrX | 108665233 | |||||||
| chrX:108665849 | G | A | 1 | a0001c0003t0007g0223 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3454+262G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 38/52 | chrX | 108665849 | |||||||
| chrX:108665950 | G | T | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3454+363G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 38/52 | chrX | 108665950 | |||||||
| chrX:108665959 | C | T | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3454+372C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 38/52 | chrX | 108665959 | |||||||
| chrX:108666048 | G | GA | 68 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(65): Show |
68 | HG01106.hp1 HG01884.hp2 HG01975.hp2 others(65): Show |
intron_variant | MODIFIER | c.3455-436dupA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 38/52 | INFO_REALIGN_3_PRIME | chrX | 108666048 | ||||||
| chrX:108666636 | T | C | 68 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(65): Show |
68 | HG01106.hp1 HG01884.hp2 HG01975.hp2 others(65): Show |
intron_variant | MODIFIER | c.3553+42T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 39/52 | chrX | 108666636 | |||||||
| chrX:108666795 | C | A | 1 | a0002c0002t0001g0079 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3553+201C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 39/52 | chrX | 108666795 | |||||||
| chrX:108667254 | C | G | 12 | a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0218 others(9): Show |
12 | HG01106.hp1 HG01884.hp2 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.3604+71C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 40/52 | chrX | 108667254 | |||||||
| chrX:108667615 | T | G | 2 | a0001c0001t0001g0056 a0001c0001t0001g0059 |
2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.3604+432T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 40/52 | chrX | 108667615 | |||||||
| chrX:108667815 | C | T | 1 | a0001c0001t0001g0166 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.3605-504C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 40/52 | chrX | 108667815 | |||||||
| chrX:108667836 | GA | G | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3605-477delA | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 40/52 | INFO_REALIGN_3_PRIME | chrX | 108667836 | ||||||
| chrX:108668615 | A | G | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.3790+111A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108668615 | |||||||
| chrX:108668803 | A | G | 1 | a0002c0002t0001g0079 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.3790+299A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108668803 | |||||||
| chrX:108669069 | C | T | 1 | a0001c0003t0001g0220 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.3790+565C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108669069 | |||||||
| chrX:108669165 | G | A | 1 | a0001c0001t0001g0174 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.3790+661G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108669165 | |||||||
| chrX:108669274 | C | A | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3790+770C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108669274 | |||||||
| chrX:108669458 | A | C | 111 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(108): Show |
112 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(109): Show |
intron_variant | MODIFIER | c.3791-770A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108669458 | |||||||
| chrX:108669488 | A | G | 1 | a0001c0001t0001g0265 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.3791-740A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108669488 | |||||||
| chrX:108669701 | T | C | 1 | a0002c0002t0001g0030 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.3791-527T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108669701 | |||||||
| chrX:108669895 | A | G | 2 | a0001c0001t0001g0056 a0001c0001t0001g0059 |
2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.3791-333A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108669895 | |||||||
| chrX:108669931 | T | C | 1 | a0001c0001t0001g0265 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.3791-297T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108669931 | |||||||
| chrX:108670024 | G | A | 2 | a0002c0002t0001g0060 a0002c0002t0001g0061 |
2 | HG02109.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.3791-204G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108670024 | |||||||
| chrX:108670195 | A | T | 1 | a0001c0001t0001g0264 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.3791-33A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 41/52 | chrX | 108670195 | |||||||
| chrX:108670618 | A | G | 1 | a0001c0001t0001g0229 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.3799+382A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108670618 | |||||||
| chrX:108670705 | A | G | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3799+469A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108670705 | |||||||
| chrX:108670846 | C | T | 2 | a0001c0001t0001g0198 a0001c0001t0001g0200 |
2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.3799+610C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108670846 | |||||||
| chrX:108670915 | G | A | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3799+679G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108670915 | |||||||
| chrX:108671010 | G | A | 1 | a0005c0007t0001g0068 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.3799+774G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108671010 | |||||||
| chrX:108671410 | C | A | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3799+1174C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108671410 | |||||||
| chrX:108671476 | G | A | 3 | a0001c0001t0001g0039 a0001c0001t0001g0090 a0001c0001t0001g0099 |
3 | HG01978.hp1 NA19009.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.3799+1240G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108671476 | |||||||
| chrX:108671739 | A | G | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.3799+1503A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108671739 | |||||||
| chrX:108672673 | T | C | 1 | a0001c0001t0001g0243 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.3800-2072T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108672673 | |||||||
| chrX:108672853 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3800-1892T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108672853 | |||||||
| chrX:108672894 | ACT | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3800-1848_3800-184 others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | INFO_REALIGN_3_PRIME | chrX | 108672894 | ||||||
| chrX:108672991 | G | T | 6 | a0001c0001t0001g0121 a0001c0001t0001g0134 a0001c0001t0001g0172 others(3): Show |
6 | HG00621.hp1 NA18940.hp1 NA18985.hp1 others(3): Show |
intron_variant | MODIFIER | c.3800-1754G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108672991 | |||||||
| chrX:108673078 | CT | C | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3800-1663delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | INFO_REALIGN_3_PRIME | chrX | 108673078 | ||||||
| chrX:108673534 | G | T | 1 | a0001c0001t0001g0247 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.3800-1211G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108673534 | |||||||
| chrX:108673934 | C | T | 1 | a0001c0001t0001g0146 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.3800-811C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108673934 | |||||||
| chrX:108674085 | C | T | 8 | a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0137 others(5): Show |
8 | HG01261.hp1 HG01928.hp1 HG01943.hp1 others(5): Show |
intron_variant | MODIFIER | c.3800-660C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108674085 | |||||||
| chrX:108674172 | C | T | 7 | a0001c0001t0001g0046 a0001c0001t0001g0082 a0001c0001t0001g0127 others(4): Show |
7 | HG02257.hp1 HG02451.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.3800-573C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108674172 | |||||||
| chrX:108674381 | T | A | 2 | a0001c0001t0001g0259 a0001c0001t0001g0261 |
2 | HG01358.hp1 HG02735.hp1 |
intron_variant | MODIFIER | c.3800-364T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 42/52 | chrX | 108674381 | |||||||
| chrX:108674777 | CT | C | 20 | a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0107 others(17): Show |
20 | HG00733.hp2 HG01167.hp1 HG02015.hp1 others(17): Show |
intron_variant | MODIFIER | c.3808+42delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | INFO_REALIGN_3_PRIME | chrX | 108674777 | ||||||
| chrX:108674819 | G | C | 1 | a0001c0001t0001g0264 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.3808+66G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | chrX | 108674819 | |||||||
| chrX:108674958 | A | G | 1 | a0001c0001t0001g0165 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.3808+205A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | chrX | 108674958 | |||||||
| chrX:108675014 | C | T | 1 | a0001c0001t0001g0159 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.3808+261C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | chrX | 108675014 | |||||||
| chrX:108675639 | T | G | 1 | a0001c0001t0001g0086 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.3808+886T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | chrX | 108675639 | |||||||
| chrX:108675956 | G | A | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3808+1203G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | chrX | 108675956 | |||||||
| chrX:108676190 | A | C | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.3809-1310A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | chrX | 108676190 | |||||||
| chrX:108676305 | C | T | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.3809-1195C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | chrX | 108676305 | |||||||
| chrX:108676451 | G | A | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.3809-1049G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | chrX | 108676451 | |||||||
| chrX:108677020 | A | G | 1 | a0001c0001t0001g0243 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.3809-480A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 43/52 | chrX | 108677020 | |||||||
| chrX:108677890 | C | A | 1 | a0002c0002t0001g0036 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3942+257C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | chrX | 108677890 | |||||||
| chrX:108678162 | CAG | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.3942+534_3942+535d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | INFO_REALIGN_3_PRIME | chrX | 108678162 | ||||||
| chrX:108678238 | G | T | 3 | a0002c0002t0001g0009 a0002c0002t0001g0017 a0002c0002t0001g0018 |
3 | NA18949.hp1 NA18967.hp1 NA18998.hp2 |
intron_variant | MODIFIER | c.3942+605G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | chrX | 108678238 | |||||||
| chrX:108678382 | A | C | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.3942+749A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | chrX | 108678382 | |||||||
| chrX:108678406 | C | CTACTCAC others(7): Show |
1 | a0001c0001t0001g0232 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.3942+774_3942+787d others(16): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | INFO_REALIGN_3_PRIME | chrX | 108678406 | ||||||
| chrX:108678523 | C | A | 105 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(102): Show |
106 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(103): Show |
intron_variant | MODIFIER | c.3942+890C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | chrX | 108678523 | |||||||
| chrX:108678579 | A | T | 1 | a0001c0001t0001g0174 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.3942+946A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | chrX | 108678579 | |||||||
| chrX:108679682 | C | A | 1 | a0001c0001t0001g0046 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.3943-997C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | chrX | 108679682 | |||||||
| chrX:108679742 | ATTGT | A | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.3943-933_3943-930d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | INFO_REALIGN_3_PRIME | chrX | 108679742 | ||||||
| chrX:108679791 | C | G | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.3943-888C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | chrX | 108679791 | |||||||
| chrX:108680251 | G | GGGAGATC others(16): Show |
2 | a0001c0001t0001g0044 a0001c0001t0001g0045 |
2 | NA18966.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.3943-427_3943-405d others(25): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | INFO_REALIGN_3_PRIME | chrX | 108680251 | ||||||
| chrX:108680480 | G | A | 1 | a0002c0002t0001g0066 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.3943-199G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 44/52 | chrX | 108680480 | |||||||
| chrX:108680874 | CT | C | 3 | a0002c0002t0001g0009 a0002c0002t0001g0017 a0002c0002t0001g0018 |
3 | NA18949.hp1 NA18967.hp1 NA18998.hp2 |
intron_variant | MODIFIER | c.4016-9delT | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 45/52 | INFO_REALIGN_3_PRIME | chrX | 108680874 | ||||||
| chrX:108681375 | G | T | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.4088-385G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 46/52 | chrX | 108681375 | |||||||
| chrX:108681403 | C | G | 1 | a0009c0015t0001g0181 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.4088-357C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 46/52 | chrX | 108681403 | |||||||
| chrX:108681540 | A | G | 1 | a0001c0001t0001g0125 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.4088-220A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 46/52 | chrX | 108681540 | |||||||
| chrX:108681565 | C | T | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.4088-195C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 46/52 | chrX | 108681565 | |||||||
| chrX:108682022 | C | T | 2 | a0001c0001t0001g0164 a0001c0001t0001g0178 |
2 | HG01515.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.4216+134C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108682022 | |||||||
| chrX:108682036 | C | T | 4 | a0001c0001t0001g0040 a0001c0001t0001g0122 a0001c0001t0001g0123 others(1): Show |
4 | HG02074.hp1 NA18947.hp1 NA19081.hp1 others(1): Show |
intron_variant | MODIFIER | c.4216+148C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108682036 | |||||||
| chrX:108682212 | A | G | 1 | a0001c0001t0001g0192 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.4216+324A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108682212 | |||||||
| chrX:108682230 | A | G | 1 | a0001c0001t0001g0142 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.4216+342A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108682230 | |||||||
| chrX:108682344 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.4216+456G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108682344 | |||||||
| chrX:108682414 | G | T | 1 | a0001c0001t0001g0154 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.4216+526G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108682414 | |||||||
| chrX:108682468 | A | G | 8 | a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0031 others(5): Show |
8 | HG02723.hp2 HG02818.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.4216+580A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108682468 | |||||||
| chrX:108682670 | G | T | 1 | a0001c0001t0001g0138 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.4216+782G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108682670 | |||||||
| chrX:108682687 | C | T | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.4216+799C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108682687 | |||||||
| chrX:108683158 | C | T | 1 | a0001c0001t0001g0216 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.4216+1270C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108683158 | |||||||
| chrX:108683337 | C | G | 1 | a0001c0001t0001g0248 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.4216+1449C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108683337 | |||||||
| chrX:108683391 | C | T | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.4216+1503C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108683391 | |||||||
| chrX:108683484 | A | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.4216+1596A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108683484 | |||||||
| chrX:108683526 | G | A | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.4216+1638G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108683526 | |||||||
| chrX:108683765 | A | C | 1 | a0001c0001t0001g0082 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.4216+1877A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108683765 | |||||||
| chrX:108683864 | C | T | 1 | a0001c0001t0001g0086 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.4216+1976C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108683864 | |||||||
| chrX:108683972 | G | A | 6 | a0003c0004t0001g0115 a0003c0004t0001g0116 a0003c0004t0001g0117 others(3): Show |
6 | NA18949.hp2 NA18951.hp2 NA18959.hp1 others(3): Show |
intron_variant | MODIFIER | c.4217-2059G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108683972 | |||||||
| chrX:108684412 | A | G | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.4217-1619A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108684412 | |||||||
| chrX:108684573 | T | C | 1 | a0001c0001t0001g0243 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.4217-1458T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108684573 | |||||||
| chrX:108684673 | T | G | 13 | a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 others(10): Show |
13 | HG00099.hp1 HG01099.hp1 HG01256.hp1 others(10): Show |
intron_variant | MODIFIER | c.4217-1358T>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108684673 | |||||||
| chrX:108684697 | C | T | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.4217-1334C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108684697 | |||||||
| chrX:108684706 | C | T | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.4217-1325C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108684706 | |||||||
| chrX:108684808 | A | C | 1 | a0001c0001t0001g0175 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.4217-1223A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108684808 | |||||||
| chrX:108684914 | T | A | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.4217-1117T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108684914 | |||||||
| chrX:108685039 | A | C | 29 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 others(26): Show |
29 | HG00099.hp1 HG01099.hp1 HG01192.hp1 others(26): Show |
intron_variant | MODIFIER | c.4217-992A>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108685039 | |||||||
| chrX:108685381 | C | T | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.4217-650C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108685381 | |||||||
| chrX:108685412 | G | A | 8 | a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0155 others(5): Show |
8 | HG02559.hp2 HG02723.hp1 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.4217-619G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108685412 | |||||||
| chrX:108685450 | C | T | 2 | a0001c0003t0001g0224 a0001c0003t0001g0225 |
2 | HG02647.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.4217-581C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108685450 | |||||||
| chrX:108685761 | G | A | 1 | a0001c0001t0001g0182 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.4217-270G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108685761 | |||||||
| chrX:108685827 | C | A | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.4217-204C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 47/52 | chrX | 108685827 | |||||||
| chrX:108686149 | C | A | 1 | a0001c0001t0001g0246 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.4315+20C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 48/52 | chrX | 108686149 | |||||||
| chrX:108686374 | A | T | 1 | a0001c0001t0001g0107 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.4315+245A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 48/52 | chrX | 108686374 | |||||||
| chrX:108686436 | T | A | 1 | a0001c0001t0001g0123 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.4315+307T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 48/52 | chrX | 108686436 | |||||||
| chrX:108686437 | G | T | 1 | a0001c0001t0001g0123 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.4315+308G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 48/52 | chrX | 108686437 | |||||||
| chrX:108686583 | T | C | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.4315+454T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 48/52 | chrX | 108686583 | |||||||
| chrX:108687077 | G | T | 1 | a0001c0001t0001g0137 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.4316-405G>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 48/52 | chrX | 108687077 | |||||||
| chrX:108687283 | G | A | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.4316-199G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 48/52 | chrX | 108687283 | |||||||
| chrX:108687810 | G | A | 1 | a0001c0003t0001g0227 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4528+116G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108687810 | |||||||
| chrX:108687876 | C | T | 1 | a0001c0001t0001g0196 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.4528+182C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108687876 | |||||||
| chrX:108688193 | G | A | 3 | a0005c0007t0001g0068 a0005c0007t0001g0070 a0010c0009t0001g0069 |
3 | HG02523.hp1 HG04228.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.4528+499G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108688193 | |||||||
| chrX:108688198 | G | A | 56 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(53): Show |
56 | HG01975.hp2 HG01978.hp2 HG02055.hp1 others(53): Show |
intron_variant | MODIFIER | c.4528+504G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108688198 | |||||||
| chrX:108688458 | C | T | 2 | a0001c0001t0001g0056 a0001c0001t0001g0059 |
2 | HG02976.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.4528+764C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108688458 | |||||||
| chrX:108688823 | A | G | 4 | a0002c0005t0001g0071 a0005c0007t0001g0068 a0005c0007t0001g0070 others(1): Show |
4 | HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.4528+1129A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108688823 | |||||||
| chrX:108688998 | T | C | 1 | a0001c0001t0001g0240 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.4528+1304T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108688998 | |||||||
| chrX:108689369 | G | A | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.4528+1675G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108689369 | |||||||
| chrX:108689990 | C | G | 113 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(110): Show |
114 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(111): Show |
intron_variant | MODIFIER | c.4528+2296C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108689990 | |||||||
| chrX:108690301 | G | C | 1 | a0001c0003t0001g0226 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.4529-2447G>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108690301 | |||||||
| chrX:108690365 | T | C | 8 | a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0031 others(5): Show |
8 | HG02723.hp2 HG02818.hp2 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.4529-2383T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108690365 | |||||||
| chrX:108690499 | C | A | 1 | a0002c0002t0001g0066 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.4529-2249C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108690499 | |||||||
| chrX:108690549 | T | A | 1 | a0002c0002t0001g0021 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.4529-2199T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108690549 | |||||||
| chrX:108690611 | T | C | 1 | a0001c0003t0001g0220 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.4529-2137T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108690611 | |||||||
| chrX:108690949 | G | A | 1 | a0001c0001t0001g0126 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.4529-1799G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108690949 | |||||||
| chrX:108690957 | T | C | 1 | a0002c0005t0003g0037 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.4529-1791T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108690957 | |||||||
| chrX:108691307 | C | T | 10 | a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0140 others(7): Show |
10 | HG00558.hp1 NA18952.hp1 NA18953.hp1 others(7): Show |
intron_variant | MODIFIER | c.4529-1441C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108691307 | |||||||
| chrX:108691666 | A | T | 48 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(45): Show |
48 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(45): Show |
intron_variant | MODIFIER | c.4529-1082A>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108691666 | |||||||
| chrX:108691687 | A | G | 1 | a0001c0001t0001g0086 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.4529-1061A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108691687 | |||||||
| chrX:108691787 | A | G | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.4529-961A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108691787 | |||||||
| chrX:108691940 | A | G | 4 | a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0226 others(1): Show |
4 | HG02145.hp1 HG02647.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.4529-808A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108691940 | |||||||
| chrX:108691954 | C | A | 222 | a0001c0001t0001g0005 a0001c0001t0001g0040 a0001c0001t0001g0041 others(219): Show |
223 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(220): Show |
intron_variant | MODIFIER | c.4529-794C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108691954 | |||||||
| chrX:108692276 | T | A | 1 | a0001c0001t0001g0101 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.4529-472T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108692276 | |||||||
| chrX:108692413 | G | A | 26 | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 others(23): Show |
26 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(23): Show |
intron_variant | MODIFIER | c.4529-335G>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108692413 | |||||||
| chrX:108692618 | A | G | 1 | a0001c0001t0001g0038 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.4529-130A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 49/52 | chrX | 108692618 | |||||||
| chrX:108693120 | C | T | 1 | a0001c0001t0001g0186 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.4706+195C>T | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | chrX | 108693120 | |||||||
| chrX:108693632 | T | C | 2 | a0001c0001t0001g0127 a0001c0001t0001g0176 |
2 | HG02630.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.4706+707T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | chrX | 108693632 | |||||||
| chrX:108694026 | C | G | 1 | a0002c0002t0001g0061 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.4707-781C>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | chrX | 108694026 | |||||||
| chrX:108694040 | GGTGTAT | G | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.4707-762_4707-757d others(8): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | INFO_REALIGN_3_PRIME | chrX | 108694040 | ||||||
| chrX:108694041 | GTGTA | G | 47 | a0001c0001t0001g0126 a0002c0002t0001g0006 a0002c0002t0001g0007 others(44): Show |
47 | HG01975.hp2 HG01978.hp2 HG02083.hp1 others(44): Show |
intron_variant | MODIFIER | c.4707-762_4707-759d others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | INFO_REALIGN_3_PRIME | chrX | 108694041 | ||||||
| chrX:108694043 | GTA | G | 84 | a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0052 others(81): Show |
85 | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(82): Show |
intron_variant | MODIFIER | c.4707-762_4707-761d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | INFO_REALIGN_3_PRIME | chrX | 108694043 | ||||||
| chrX:108694045 | A | ATG | 3 | a0001c0001t0001g0101 a0001c0001t0001g0113 a0001c0001t0001g0203 |
3 | HG00673.hp1 HG01081.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.4707-734_4707-733d others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | INFO_REALIGN_3_PRIME | chrX | 108694045 | ||||||
| chrX:108694045 | A | G | 47 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(44): Show |
47 | HG00558.hp1 HG00735.hp2 HG01106.hp1 others(44): Show |
intron_variant | MODIFIER | c.4707-762A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | chrX | 108694045 | |||||||
| chrX:108694201 | A | G | 3 | a0002c0002t0001g0020 a0002c0002t0001g0024 a0002c0002t0001g0063 |
3 | NA18981.hp2 NA19085.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.4707-606A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | chrX | 108694201 | |||||||
| chrX:108694771 | C | A | 7 | a0002c0005t0001g0071 a0002c0005t0002g0001 a0002c0005t0002g0081 others(4): Show |
7 | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.4707-36C>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | chrX | 108694771 | |||||||
| chrX:108695060 | T | A | 3 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0147 |
3 | NA18962.hp1 NA18977.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.4821+139T>A | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 51/52 | chrX | 108695060 | |||||||
| chrX:108695220 | A | G | 3 | a0002c0005t0002g0001 a0002c0005t0002g0081 a0002c0005t0012g0001 |
3 | HG02622.hp1 HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.4822-47A>G | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 51/52 | chrX | 108695220 | |||||||
| chrX:108695751 | T | C | 1 | a0001c0001t0001g0192 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.4994+312T>C | COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 52/52 | chrX | 108695751 |