Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 1184 |
| ensemblid | ENSG00000171365.17 |
| hgncid | 2023 |
| symbol | CLCN5 |
| name | chloride voltage-gated channel 5 |
| refseq_nuc | NM_001127898.4 |
| refseq_prot | NP_001121370.1 |
| ensembl_nuc | ENST00000376091.8 |
| ensembl_prot | ENSP00000365259.3 |
| mane_status | MANE Select |
| chr | chrX |
| start | 49922596 |
| end | 50099230 |
| strand | + |
| ver | v1.2 |
| region | chrX:49922596-50099230 |
| region5000 | chrX:49917596-50104230 |
| regionname0 | CLCN5_chrX_49922596_50099230 |
| regionname5000 | CLCN5_chrX_49917596_50104230 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 816 | 174 | 58 | 25 | 68 | 5 | 16 | 53 | CLCN5_chrX_49917596_50104230 | CLCN5 | MAMWQ others(811): Show |
chrX | 49917596 | 50104230 |
| a0002 | 0/0 | 816 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | MAMWQ others(811): Show |
chrX | 49917596 | 50104230 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 2448 | 144 | 31 | 23 | 68 | 5 | 16 | CLCN5_chrX_49917596_50104230 | CLCN5 | ATGGC others(2443): Show |
chrX | 49917596 | 50104230 | ||
| a0001c0002 | 0/0 | 2448 | 16 | 15 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | ATGGC others(2443): Show |
chrX | 49917596 | 50104230 | ||
| a0001c0003 | 0/0 | 2448 | 8 | 7 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | ATGGC others(2443): Show |
chrX | 49917596 | 50104230 | ||
| a0001c0004 | 1/0 | 2448 | 3 | 2 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | ATGGC others(2443): Show |
chrX | 49917596 | 50104230 | ||
| a0001c0006 | 0/0 | 2448 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | ATGGC others(2443): Show |
chrX | 49917596 | 50104230 | ||
| a0001c0007 | 0/0 | 2448 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | ATGGC others(2443): Show |
chrX | 49917596 | 50104230 | ||
| a0001c0008 | 0/0 | 2448 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | ATGGC others(2443): Show |
chrX | 49917596 | 50104230 | ||
| a0002c0005 | 0/0 | 2448 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | ATGGC others(2443): Show |
chrX | 49917596 | 50104230 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 9863 | 118 | 21 | 17 | 62 | 4 | 14 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0001t0004 | 0/0 | 9863 | 2 | 2 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0001t0005 | 0/0 | 9863 | 5 | 4 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0001t0006 | 0/0 | 9863 | 2 | 0 | 0 | 2 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0001t0007 | 0/0 | 9863 | 2 | 0 | 1 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0001t0008 | 0/0 | 9863 | 2 | 0 | 2 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0001t0010 | 0/0 | 9863 | 2 | 2 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0001t0011 | 0/1 | 9863 | 2 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0001t0012 | 0/0 | 9863 | 1 | 0 | 0 | 0 | 1 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0001t0013 | 0/0 | 9863 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0001t0014 | 0/0 | 9863 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0001t0015 | 0/0 | 9863 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0001t0016 | 0/0 | 9863 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0001t0018 | 0/0 | 9863 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0001t0020 | 0/0 | 9863 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0001t0021 | 0/0 | 9863 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0001t0022 | 0/0 | 9863 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0002t0002 | 0/0 | 9863 | 10 | 10 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0002t0004 | 0/0 | 9863 | 3 | 3 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0002t0009 | 0/0 | 9863 | 2 | 2 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0002t0019 | 0/0 | 9863 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0003t0003 | 0/0 | 9863 | 8 | 7 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0004t0001 | 1/0 | 9863 | 3 | 2 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0006t0002 | 0/0 | 9863 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0007t0001 | 0/0 | 9863 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0001c0008t0003 | 0/0 | 9863 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| a0002c0005t0017 | 0/0 | 9863 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | GATAC others(9858): Show |
chrX | 49917596 | 50104230 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0001g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0004g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0004g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0005g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0005g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0005g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0005g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0005g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0006g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0006g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0007g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0007g0122 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0008g0079 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0008g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0010g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0010g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0011g0037 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0011g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0012g0148 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0013g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0014g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0015g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0016g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0018g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0020g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0021g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0001t0022g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0002g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0002g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0002g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0002g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0002g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0002g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0002g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0002g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0002g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0004g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0004g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0004g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0009g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0009g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0002t0019g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0003t0003g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0003t0003g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0003t0003g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0003t0003g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0003t0003g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0003t0003g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0003t0003g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0003t0003g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0004t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0004t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0004t0001g0083 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0006t0002g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0007t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0001c0008t0003g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| a0002c0005t0017g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0058 | EUR | GBR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG00280 | hp1 | a0001 | c0001 | t0012 | g0148 | EUR | FIN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0097 | EAS | CHS | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0107 | EAS | CHS | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0143 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0161 | EAS | CHS | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG00738 | hp1 | a0001 | c0003 | t0003 | g0175 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0088 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0127 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0061 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0056 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0128 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0070 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0142 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01081 | hp2 | a0001 | c0001 | t0005 | g0170 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0078 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0121 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01109 | hp1 | a0001 | c0001 | t0007 | g0087 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01167 | hp1 | a0001 | c0002 | t0019 | g0010 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01192 | hp1 | a0001 | c0001 | t0011 | g0039 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0055 | AMR | PUR | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01255 | hp1 | a0002 | c0005 | t0017 | g0001 | AMR | CLM | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0031 | AMR | CLM | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0094 | AMR | CLM | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01358 | hp1 | a0001 | c0001 | t0016 | g0124 | AMR | CLM | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01433 | hp1 | a0001 | c0001 | t0008 | g0079 | AMR | CLM | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0057 | EUR | IBS | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01884 | hp1 | a0001 | c0003 | t0003 | g0166 | AFR | ACB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01884 | hp2 | a0001 | c0001 | t0001 | g0102 | AFR | ACB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0032 | AMR | PEL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0027 | AMR | PEL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0053 | AMR | PEL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG01952 | hp1 | a0001 | c0001 | t0008 | g0096 | AMR | PEL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02015 | hp1 | a0001 | c0001 | t0021 | g0147 | EAS | KHV | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0134 | EAS | KHV | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0069 | EAS | KHV | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0028 | AFR | ACB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0036 | EAS | KHV | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0118 | EAS | KHV | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | KHV | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0071 | EAS | KHV | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02129 | hp1 | a0001 | c0001 | t0013 | g0095 | EAS | KHV | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0149 | EAS | KHV | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0103 | EAS | KHV | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02145 | hp1 | a0001 | c0002 | t0002 | g0009 | AFR | ACB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02258 | hp1 | a0001 | c0004 | t0001 | g0051 | AFR | ACB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02280 | hp1 | a0001 | c0003 | t0003 | g0169 | AFR | ACB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0026 | AFR | ACB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0105 | AMR | PEL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0041 | AFR | ACB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0126 | AFR | ACB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0073 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0080 | SAS | PJL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0129 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02615 | hp2 | a0001 | c0002 | t0002 | g0007 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02622 | hp1 | a0001 | c0001 | t0010 | g0019 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02622 | hp2 | a0001 | c0002 | t0004 | g0016 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0025 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02630 | hp2 | a0001 | c0002 | t0009 | g0013 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0085 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0123 | SAS | PJL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02717 | hp1 | a0001 | c0001 | t0014 | g0042 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0168 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02723 | hp2 | a0001 | c0006 | t0002 | g0138 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0089 | SAS | PJL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02738 | hp1 | a0001 | c0001 | t0007 | g0122 | SAS | PJL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02809 | hp1 | a0001 | c0002 | t0002 | g0130 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0125 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0047 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02886 | hp2 | a0001 | c0003 | t0003 | g0167 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0076 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0135 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02922 | hp2 | a0001 | c0003 | t0003 | g0018 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02965 | hp1 | a0001 | c0002 | t0004 | g0003 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02970 | hp1 | a0001 | c0007 | t0001 | g0029 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02970 | hp2 | a0001 | c0002 | t0002 | g0014 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02976 | hp1 | a0001 | c0002 | t0002 | g0008 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02976 | hp2 | a0001 | c0001 | t0005 | g0173 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0151 | SAS | PJL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03041 | hp1 | a0001 | c0002 | t0002 | g0011 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0074 | AFR | GWD | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0075 | AFR | MSL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03130 | hp1 | a0001 | c0002 | t0002 | g0015 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0030 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0086 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03195 | hp2 | a0001 | c0003 | t0003 | g0163 | AFR | ESN | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03209 | hp1 | a0001 | c0001 | t0004 | g0137 | AFR | MSL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03225 | hp1 | a0001 | c0001 | t0022 | g0136 | AFR | MSL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03453 | hp1 | a0001 | c0008 | t0003 | g0005 | AFR | MSL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03453 | hp2 | a0001 | c0004 | t0001 | g0048 | AFR | MSL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03486 | hp1 | a0001 | c0001 | t0010 | g0020 | AFR | MSL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03486 | hp2 | a0001 | c0002 | t0002 | g0004 | AFR | MSL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0144 | SAS | PJL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0152 | SAS | PJL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0084 | AFR | MSL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0119 | SAS | PJL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0038 | SAS | STU | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03710 | hp1 | a0001 | c0001 | t0015 | g0141 | SAS | PJL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0077 | SAS | BEB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0099 | SAS | STU | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0034 | SAS | STU | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0120 | SAS | STU | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0155 | SAS | STU | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18522 | hp1 | a0001 | c0002 | t0002 | g0006 | AFR | YRI | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | CHB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0033 | EAS | CHB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18940 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18943 | hp1 | a0001 | c0001 | t0020 | g0091 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0112 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0059 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0159 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0050 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0146 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0045 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0022 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0035 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0132 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18967 | hp1 | a0001 | c0001 | t0001 | g0157 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0040 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18974 | hp1 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0063 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18982 | hp1 | a0001 | c0001 | t0001 | g0064 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0092 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0106 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0060 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18988 | hp1 | a0001 | c0001 | t0001 | g0153 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18989 | hp1 | a0001 | c0001 | t0001 | g0021 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0115 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0081 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18995 | hp1 | a0001 | c0001 | t0018 | g0117 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0098 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19006 | hp1 | a0001 | c0001 | t0001 | g0109 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0066 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19009 | hp1 | a0001 | c0001 | t0006 | g0140 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0156 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19030 | hp1 | a0001 | c0001 | t0004 | g0164 | AFR | LWK | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19030 | hp2 | a0001 | c0001 | t0005 | g0174 | AFR | LWK | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19043 | hp1 | a0001 | c0002 | t0004 | g0002 | AFR | LWK | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0082 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0072 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0101 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0133 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0067 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19066 | hp1 | a0001 | c0001 | t0006 | g0139 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19067 | hp1 | a0001 | c0001 | t0001 | g0113 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0111 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19072 | hp1 | a0001 | c0001 | t0001 | g0110 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19075 | hp1 | a0001 | c0001 | t0001 | g0114 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19076 | hp1 | a0001 | c0001 | t0001 | g0046 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0044 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19083 | hp1 | a0001 | c0001 | t0001 | g0108 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0068 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19086 | hp1 | a0001 | c0001 | t0001 | g0024 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0049 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19089 | hp1 | a0001 | c0001 | t0001 | g0090 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0065 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA20129 | hp1 | a0001 | c0001 | t0005 | g0171 | AFR | ASW | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA20129 | hp2 | a0001 | c0002 | t0009 | g0017 | AFR | ASW | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0052 | EUR | TSI | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0158 | EUR | TSI | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0150 | SAS | GIH | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG02486 | hp1 | a0001 | c0003 | t0003 | g0165 | AFR | ACB | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG03471 | hp1 | a0001 | c0003 | t0003 | g0162 | AFR | MSL | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0054 | AFR | USA | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| HG06807 | hp2 | a0001 | c0001 | t0005 | g0172 | AFR | USA | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0131 | EAS | JPT | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA20300 | hp1 | a0001 | c0002 | t0002 | g0012 | AFR | USA | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0062 | AFR | USA | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0011 | g0037 | REF | REF | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| homoSapiens | grch38p0 | a0001 | c0004 | t0001 | g0083 | REF | REF | CLCN5_chrX_49917596_50104230 | CLCN5 | chrX | 49917596 | 50104230 |
| 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:50080626 | G | A | 1 | a0002 | 1 | HG01255.hp1 | missense_variant | MODERATE | c.636G>A | p.Met212Ile | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 8/15 | 1037/9863 | 636/2451 | 212/816 | chrX | 50080626 |
| 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:50042407 | C | T | 2 | a0001c0002 a0001c0008 |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
synonymous_variant | LOW | c.108C>T | p.Thr36Thr | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/15 | 509/9863 | 108/2451 | 36/816 | chrX | 50042407 | |||
| chrX:50081733 | A | G | 7 | a0001c0001 a0001c0002 a0001c0003 others(4): Show |
171 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(168): Show |
synonymous_variant | LOW | c.819A>G | p.Ser273Ser | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/15 | 1220/9863 | 819/2451 | 273/816 | chrX | 50081733 | |||
| chrX:50086516 | G | C | 2 | a0001c0003 a0001c0008 |
9 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(6): Show |
synonymous_variant | LOW | c.1203G>C | p.Leu401Leu | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 11/15 | 1604/9863 | 1203/2451 | 401/816 | chrX | 50086516 | |||
| chrX:50086570 | C | T | 1 | a0001c0007 | 1 | HG02970.hp1 | synonymous_variant | LOW | c.1257C>T | p.Thr419Thr | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 11/15 | 1658/9863 | 1257/2451 | 419/816 | chrX | 50086570 | |||
| chrX:50086786 | C | T | 1 | a0001c0008 | 1 | HG03453.hp1 | synonymous_variant | LOW | c.1473C>T | p.Gly491Gly | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 11/15 | 1874/9863 | 1473/2451 | 491/816 | chrX | 50086786 | |||
| chrX:50090285 | C | T | 2 | a0001c0002 a0001c0006 |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
synonymous_variant | LOW | c.1914C>T | p.Pro638Pro | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 13/15 | 2315/9863 | 1914/2451 | 638/816 | chrX | 50090285 |
| 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:50093082 | A | G | 1 | a0001c0001t0022 | 1 | HG03225.hp1 | 3_prime_UTR_variant | MODIFIER | c.*863A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 863 | chrX | 50093082 | ||||||
| chrX:50093088 | A | G | 1 | a0001c0001t0011 | 1 | HG01192.hp1 | 3_prime_UTR_variant | MODIFIER | c.*869A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 869 | chrX | 50093088 | ||||||
| chrX:50093291 | A | T | 1 | a0001c0001t0021 | 1 | HG02015.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1072A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 1072 | chrX | 50093291 | ||||||
| chrX:50093839 | A | G | 1 | a0001c0001t0020 | 1 | NA18943.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1620A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 1620 | chrX | 50093839 | ||||||
| chrX:50093942 | G | A | 1 | a0001c0001t0012 | 1 | HG00280.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1723G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 1723 | chrX | 50093942 | ||||||
| chrX:50093954 | T | C | 1 | a0001c0001t0006 | 2 | NA19009.hp1 NA19066.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1735T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 1735 | chrX | 50093954 | ||||||
| chrX:50094005 | G | A | 1 | a0001c0001t0013 | 1 | HG02129.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1786G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 1786 | chrX | 50094005 | ||||||
| chrX:50094372 | T | G | 1 | a0001c0001t0022 | 1 | HG03225.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2153T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 2153 | chrX | 50094372 | ||||||
| chrX:50095079 | T | C | 1 | a0001c0001t0007 | 2 | HG01109.hp1 HG02738.hp1 |
3_prime_UTR_variant | MODIFIER | c.*2860T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 2860 | chrX | 50095079 | ||||||
| chrX:50095243 | A | G | 1 | a0001c0001t0010 | 2 | HG02622.hp1 HG03486.hp1 |
3_prime_UTR_variant | MODIFIER | c.*3024A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 3024 | chrX | 50095243 | ||||||
| chrX:50095474 | C | T | 4 | a0001c0002t0002 a0001c0002t0009 a0001c0002t0019 others(1): Show |
14 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*3255C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 3255 | chrX | 50095474 | ||||||
| chrX:50095628 | A | G | 1 | a0001c0001t0005 | 5 | HG01081.hp2 HG02976.hp2 HG06807.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*3409A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 3409 | chrX | 50095628 | ||||||
| chrX:50095742 | C | T | 1 | a0001c0002t0019 | 1 | HG01167.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3523C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 3523 | chrX | 50095742 | ||||||
| chrX:50095871 | T | C | 9 | a0001c0001t0004 a0001c0001t0022 a0001c0002t0002 others(6): Show |
29 | HG00738.hp1 HG01167.hp1 HG01884.hp1 others(26): Show |
3_prime_UTR_variant | MODIFIER | c.*3652T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 3652 | chrX | 50095871 | ||||||
| chrX:50095922 | A | G | 1 | a0001c0001t0022 | 1 | HG03225.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3703A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 3703 | chrX | 50095922 | ||||||
| chrX:50095971 | T | G | 1 | a0001c0001t0014 | 1 | HG02717.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3752T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 3752 | chrX | 50095971 | ||||||
| chrX:50096411 | C | T | 1 | a0001c0002t0009 | 2 | HG02630.hp2 NA20129.hp2 |
3_prime_UTR_variant | MODIFIER | c.*4192C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 4192 | chrX | 50096411 | ||||||
| chrX:50096754 | A | G | 1 | a0001c0001t0018 | 1 | NA18995.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4535A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 4535 | chrX | 50096754 | ||||||
| chrX:50096911 | C | T | 1 | a0002c0005t0017 | 1 | HG01255.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4692C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 4692 | chrX | 50096911 | ||||||
| chrX:50096967 | A | G | 1 | a0001c0001t0010 | 2 | HG02622.hp1 HG03486.hp1 |
3_prime_UTR_variant | MODIFIER | c.*4748A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 4748 | chrX | 50096967 | ||||||
| chrX:50097359 | A | G | 1 | a0001c0001t0016 | 1 | HG01358.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5140A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 5140 | chrX | 50097359 | ||||||
| chrX:50097363 | C | T | 2 | a0001c0003t0003 a0001c0008t0003 |
9 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*5144C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 5144 | chrX | 50097363 | ||||||
| chrX:50098175 | T | C | 9 | a0001c0001t0004 a0001c0001t0022 a0001c0002t0002 others(6): Show |
29 | HG00738.hp1 HG01167.hp1 HG01884.hp1 others(26): Show |
3_prime_UTR_variant | MODIFIER | c.*5956T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 5956 | chrX | 50098175 | ||||||
| chrX:50098362 | C | T | 1 | a0001c0001t0008 | 2 | HG01433.hp1 HG01952.hp1 |
3_prime_UTR_variant | MODIFIER | c.*6143C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 6143 | chrX | 50098362 | ||||||
| chrX:50098555 | G | A | 1 | a0001c0001t0010 | 2 | HG02622.hp1 HG03486.hp1 |
3_prime_UTR_variant | MODIFIER | c.*6336G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 6336 | chrX | 50098555 | ||||||
| chrX:50098757 | G | A | 1 | a0001c0001t0015 | 1 | HG03710.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6538G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 15/15 | 6538 | chrX | 50098757 |
| 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:49922870 | C | A | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.-205+78C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 1/14 | chrX | 49922870 | |||||||
| chrX:49923056 | C | T | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.-205+264C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 1/14 | chrX | 49923056 | |||||||
| chrX:49924145 | A | AT | 21 | a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 others(18): Show |
21 | HG00280.hp1 HG00642.hp1 HG00673.hp1 others(18): Show |
intron_variant | MODIFIER | c.-129+680dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chrX | 49924145 | ||||||
| chrX:49924145 | A | ATTTTTT | 9 | a0001c0001t0001g0168 a0001c0001t0004g0164 a0001c0003t0003g0162 others(6): Show |
9 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.-129+675_-129+680d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chrX | 49924145 | ||||||
| chrX:49924145 | A | ATTTTTTT others(10): Show |
4 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(1): Show |
4 | HG01081.hp2 HG02976.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+664_-129+680d others(19): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chrX | 49924145 | ||||||
| chrX:49924145 | A | ATTTTTTT others(11): Show |
1 | a0001c0001t0005g0174 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-129+680_-129+681i others(20): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chrX | 49924145 | ||||||
| chrX:49924145 | ATT | A | 18 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(15): Show |
18 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(15): Show |
intron_variant | MODIFIER | c.-129+679_-129+680d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chrX | 49924145 | ||||||
| chrX:49924408 | C | T | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.-128-763C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | chrX | 49924408 | |||||||
| chrX:49924456 | C | G | 2 | a0001c0001t0001g0168 a0001c0003t0003g0169 |
2 | HG02280.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.-128-715C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | chrX | 49924456 | |||||||
| chrX:49924545 | T | C | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.-128-626T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | chrX | 49924545 | |||||||
| chrX:49924997 | C | T | 2 | a0001c0001t0006g0139 a0001c0001t0006g0140 |
2 | NA19009.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.-128-174C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | chrX | 49924997 | |||||||
| chrX:49925089 | C | T | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.-128-82C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 2/14 | chrX | 49925089 | |||||||
| chrX:49925976 | C | T | 7 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(4): Show |
7 | HG01081.hp2 HG01255.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.16+662C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49925976 | |||||||
| chrX:49926579 | C | A | 1 | a0001c0001t0001g0021 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.16+1265C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49926579 | |||||||
| chrX:49926907 | T | TAGAG | 37 | a0001c0001t0001g0168 a0001c0001t0004g0137 a0001c0001t0004g0164 others(34): Show |
37 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(34): Show |
intron_variant | MODIFIER | c.16+1596_16+1597ins others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49926907 | ||||||
| chrX:49927349 | T | C | 3 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 |
3 | NA18961.hp1 NA18962.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.16+2035T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49927349 | |||||||
| chrX:49927754 | T | C | 16 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(13): Show |
16 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(13): Show |
intron_variant | MODIFIER | c.16+2440T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49927754 | |||||||
| chrX:49927764 | A | G | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+2450A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49927764 | |||||||
| chrX:49928413 | T | C | 1 | a0001c0001t0022g0136 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.16+3099T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49928413 | |||||||
| chrX:49928586 | CTGTT | C | 14 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(11): Show |
14 | HG01192.hp1 HG01258.hp1 HG01928.hp1 others(11): Show |
intron_variant | MODIFIER | c.16+3275_16+3278del others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49928586 | ||||||
| chrX:49928734 | G | A | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+3420G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49928734 | |||||||
| chrX:49928818 | G | A | 30 | a0001c0001t0001g0168 a0001c0001t0004g0137 a0001c0001t0004g0164 others(27): Show |
30 | HG00738.hp1 HG01167.hp1 HG01884.hp1 others(27): Show |
intron_variant | MODIFIER | c.16+3504G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49928818 | |||||||
| chrX:49929329 | T | C | 1 | a0001c0001t0001g0040 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.16+4015T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49929329 | |||||||
| chrX:49929470 | C | T | 1 | a0001c0001t0001g0135 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.16+4156C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49929470 | |||||||
| chrX:49929535 | A | G | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.16+4221A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49929535 | |||||||
| chrX:49929772 | G | GTTT | 22 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(19): Show |
22 | HG01081.hp2 HG01167.hp1 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.16+4462_16+4464dup others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49929772 | ||||||
| chrX:49929772 | G | GTTTT | 12 | a0001c0001t0001g0168 a0001c0001t0004g0164 a0001c0001t0010g0020 others(9): Show |
12 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.16+4461_16+4464dup others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49929772 | ||||||
| chrX:49929779 | G | GT | 6 | a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 others(3): Show |
6 | HG00673.hp1 NA18948.hp1 NA18967.hp1 others(3): Show |
intron_variant | MODIFIER | c.16+4479dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49929779 | ||||||
| chrX:49929779 | G | T | 37 | a0001c0001t0001g0168 a0001c0001t0004g0137 a0001c0001t0004g0164 others(34): Show |
37 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(34): Show |
intron_variant | MODIFIER | c.16+4465G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49929779 | |||||||
| chrX:49930564 | G | A | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+5250G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49930564 | |||||||
| chrX:49930673 | G | A | 37 | a0001c0001t0001g0168 a0001c0001t0004g0137 a0001c0001t0004g0164 others(34): Show |
37 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(34): Show |
intron_variant | MODIFIER | c.16+5359G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49930673 | |||||||
| chrX:49931072 | C | T | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+5758C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49931072 | |||||||
| chrX:49931607 | T | C | 1 | a0001c0001t0015g0141 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.16+6293T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49931607 | |||||||
| chrX:49931706 | A | G | 1 | a0001c0001t0022g0136 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.16+6392A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49931706 | |||||||
| chrX:49931869 | C | T | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.16+6555C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49931869 | |||||||
| chrX:49932224 | C | T | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+6910C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49932224 | |||||||
| chrX:49932375 | C | A | 3 | a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0001t0022g0136 |
3 | HG02622.hp1 HG03225.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.16+7061C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49932375 | |||||||
| chrX:49932509 | G | A | 1 | a0001c0003t0003g0166 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.16+7195G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49932509 | |||||||
| chrX:49933044 | A | G | 21 | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 others(18): Show |
21 | HG00280.hp1 HG00673.hp1 HG02015.hp1 others(18): Show |
intron_variant | MODIFIER | c.16+7730A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49933044 | |||||||
| chrX:49933228 | A | T | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.16+7914A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49933228 | |||||||
| chrX:49933278 | C | G | 8 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(5): Show |
8 | HG01192.hp1 HG01258.hp1 HG01928.hp1 others(5): Show |
intron_variant | MODIFIER | c.16+7964C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49933278 | |||||||
| chrX:49933361 | A | C | 36 | a0001c0001t0001g0168 a0001c0001t0004g0137 a0001c0001t0004g0164 others(33): Show |
36 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(33): Show |
intron_variant | MODIFIER | c.16+8047A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49933361 | |||||||
| chrX:49933936 | G | T | 1 | a0001c0001t0001g0132 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.16+8622G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49933936 | |||||||
| chrX:49934312 | C | T | 1 | a0001c0001t0001g0161 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.16+8998C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49934312 | |||||||
| chrX:49934389 | C | T | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.16+9075C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49934389 | |||||||
| chrX:49934390 | A | G | 37 | a0001c0001t0001g0168 a0001c0001t0004g0137 a0001c0001t0004g0164 others(34): Show |
37 | HG00738.hp1 HG01081.hp2 HG01167.hp1 others(34): Show |
intron_variant | MODIFIER | c.16+9076A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49934390 | |||||||
| chrX:49934453 | T | C | 16 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(13): Show |
16 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(13): Show |
intron_variant | MODIFIER | c.16+9139T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49934453 | |||||||
| chrX:49935038 | C | T | 18 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(15): Show |
18 | HG01081.hp2 HG01167.hp1 HG02145.hp1 others(15): Show |
intron_variant | MODIFIER | c.16+9724C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49935038 | |||||||
| chrX:49935259 | A | G | 1 | a0001c0001t0001g0131 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.16+9945A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49935259 | |||||||
| chrX:49935315 | G | A | 2 | a0001c0003t0003g0162 a0001c0003t0003g0163 |
2 | HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.16+10001G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49935315 | |||||||
| chrX:49935361 | G | A | 15 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(12): Show |
15 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(12): Show |
intron_variant | MODIFIER | c.16+10047G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49935361 | |||||||
| chrX:49935497 | T | G | 1 | a0001c0001t0001g0041 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.16+10183T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49935497 | |||||||
| chrX:49935666 | G | C | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.16+10352G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49935666 | |||||||
| chrX:49935728 | C | T | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.16+10414C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49935728 | |||||||
| chrX:49936024 | C | G | 45 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(42): Show |
45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.16+10710C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936024 | |||||||
| chrX:49936040 | C | T | 3 | a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0016 |
3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.16+10726C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936040 | |||||||
| chrX:49936076 | A | C | 1 | a0001c0002t0002g0015 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.16+10762A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936076 | |||||||
| chrX:49936439 | A | G | 7 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(4): Show |
7 | HG00642.hp1 HG01081.hp1 HG01106.hp1 others(4): Show |
intron_variant | MODIFIER | c.16+11125A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936439 | |||||||
| chrX:49936498 | G | A | 12 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(9): Show |
12 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.16+11184G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936498 | |||||||
| chrX:49936533 | G | A | 1 | a0001c0001t0015g0141 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.16+11219G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936533 | |||||||
| chrX:49936653 | G | C | 1 | a0001c0001t0014g0042 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.16+11339G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936653 | |||||||
| chrX:49936683 | G | T | 1 | a0001c0001t0001g0119 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.16+11369G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936683 | |||||||
| chrX:49936791 | G | A | 26 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(23): Show |
26 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(23): Show |
intron_variant | MODIFIER | c.16+11477G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936791 | |||||||
| chrX:49936874 | G | T | 1 | a0001c0001t0001g0131 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.16+11560G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936874 | |||||||
| chrX:49936954 | G | A | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.16+11640G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936954 | |||||||
| chrX:49936965 | C | T | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+11651C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49936965 | |||||||
| chrX:49937288 | G | C | 1 | a0001c0001t0001g0144 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.16+11974G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49937288 | |||||||
| chrX:49937639 | A | T | 1 | a0001c0001t0001g0155 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.16+12325A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49937639 | |||||||
| chrX:49937690 | A | C | 26 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(23): Show |
26 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(23): Show |
intron_variant | MODIFIER | c.16+12376A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49937690 | |||||||
| chrX:49937700 | A | G | 4 | a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 others(1): Show |
4 | HG02071.hp1 NA18990.hp1 NA18995.hp1 others(1): Show |
intron_variant | MODIFIER | c.16+12386A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49937700 | |||||||
| chrX:49937781 | G | C | 3 | a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0157 |
3 | NA18940.hp1 NA18967.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.16+12467G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49937781 | |||||||
| chrX:49937917 | G | A | 1 | a0001c0001t0022g0136 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.16+12603G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49937917 | |||||||
| chrX:49938248 | A | C | 14 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(11): Show |
14 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.16+12934A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49938248 | |||||||
| chrX:49938667 | A | G | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+13353A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49938667 | |||||||
| chrX:49938913 | G | A | 1 | a0001c0001t0001g0133 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.16+13599G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49938913 | |||||||
| chrX:49938973 | C | T | 3 | a0001c0001t0004g0137 a0001c0003t0003g0162 a0001c0003t0003g0163 |
3 | HG03195.hp2 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.16+13659C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49938973 | |||||||
| chrX:49938996 | T | C | 3 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 |
3 | HG01934.hp1 HG02280.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.16+13682T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49938996 | |||||||
| chrX:49939113 | G | T | 11 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(8): Show |
11 | HG00621.hp1 HG02300.hp1 NA18944.hp1 others(8): Show |
intron_variant | MODIFIER | c.16+13799G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939113 | |||||||
| chrX:49939398 | G | A | 1 | a0001c0003t0003g0162 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.16+14084G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939398 | |||||||
| chrX:49939435 | A | G | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+14121A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939435 | |||||||
| chrX:49939576 | A | G | 1 | a0001c0001t0016g0124 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.16+14262A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939576 | |||||||
| chrX:49939626 | C | T | 1 | a0001c0001t0001g0103 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.16+14312C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939626 | |||||||
| chrX:49939644 | A | G | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.16+14330A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939644 | |||||||
| chrX:49939666 | C | T | 9 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(6): Show |
9 | HG00738.hp1 HG02280.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.16+14352C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939666 | |||||||
| chrX:49939734 | C | T | 4 | a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 others(1): Show |
4 | HG02071.hp1 NA18990.hp1 NA18995.hp1 others(1): Show |
intron_variant | MODIFIER | c.16+14420C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939734 | |||||||
| chrX:49939796 | G | A | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.16+14482G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939796 | |||||||
| chrX:49939911 | A | C | 8 | a0001c0001t0001g0102 a0001c0001t0001g0120 a0001c0001t0001g0121 others(5): Show |
8 | HG00642.hp1 HG01081.hp1 HG01106.hp1 others(5): Show |
intron_variant | MODIFIER | c.16+14597A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939911 | |||||||
| chrX:49939927 | C | G | 4 | a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 others(1): Show |
4 | HG02071.hp1 NA18990.hp1 NA18995.hp1 others(1): Show |
intron_variant | MODIFIER | c.16+14613C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49939927 | |||||||
| chrX:49940051 | C | G | 1 | a0001c0001t0001g0028 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.16+14737C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49940051 | |||||||
| chrX:49940105 | C | G | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.16+14791C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49940105 | |||||||
| chrX:49940754 | C | T | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+15440C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49940754 | |||||||
| chrX:49940869 | T | G | 1 | a0001c0001t0001g0104 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+15555T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49940869 | |||||||
| chrX:49941030 | T | A | 1 | a0001c0001t0001g0104 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+15716T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49941030 | |||||||
| chrX:49941076 | C | T | 1 | a0001c0001t0001g0131 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.16+15762C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49941076 | |||||||
| chrX:49941172 | A | AG | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.16+15858_16+15859i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49941172 | |||||||
| chrX:49941237 | G | T | 1 | a0001c0001t0001g0118 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.16+15923G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49941237 | |||||||
| chrX:49941435 | A | C | 26 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(23): Show |
26 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(23): Show |
intron_variant | MODIFIER | c.16+16121A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49941435 | |||||||
| chrX:49941748 | G | T | 1 | a0001c0001t0001g0154 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.16+16434G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49941748 | |||||||
| chrX:49941840 | C | T | 1 | a0001c0001t0001g0028 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.16+16526C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49941840 | |||||||
| chrX:49941901 | T | C | 1 | a0001c0001t0001g0022 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.16+16587T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49941901 | |||||||
| chrX:49941920 | C | CT | 46 | a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0084 others(43): Show |
46 | HG00280.hp1 HG00609.hp1 HG00673.hp1 others(43): Show |
intron_variant | MODIFIER | c.16+16629dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49941920 | ||||||
| chrX:49941920 | C | CTT | 7 | a0001c0001t0001g0101 a0001c0001t0001g0123 a0001c0001t0001g0152 others(4): Show |
7 | HG02698.hp1 HG03492.hp1 NA18967.hp1 others(4): Show |
intron_variant | MODIFIER | c.16+16628_16+16629d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49941920 | ||||||
| chrX:49941920 | C | CTTT | 6 | a0001c0001t0001g0155 a0001c0001t0005g0170 a0001c0001t0005g0171 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+16627_16+16629d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49941920 | ||||||
| chrX:49941920 | C | CTTTT | 7 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(4): Show |
7 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.16+16626_16+16629d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49941920 | ||||||
| chrX:49941920 | CT | C | 20 | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(17): Show |
20 | HG01167.hp1 HG01884.hp1 HG02145.hp1 others(17): Show |
intron_variant | MODIFIER | c.16+16629delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49941920 | ||||||
| chrX:49941921 | T | G | 1 | a0001c0001t0001g0104 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16607T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49941921 | |||||||
| chrX:49942039 | G | A | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+16725G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942039 | |||||||
| chrX:49942121 | CT | C | 12 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(9): Show |
12 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.16+16815delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49942121 | ||||||
| chrX:49942152 | G | A | 172 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(169): Show |
172 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(169): Show |
intron_variant | MODIFIER | c.16+16838G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942152 | |||||||
| chrX:49942153 | A | C | 172 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(169): Show |
172 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(169): Show |
intron_variant | MODIFIER | c.16+16839A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942153 | |||||||
| chrX:49942154 | A | T | 1 | a0001c0001t0001g0104 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16840A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942154 | |||||||
| chrX:49942155 | T | G | 1 | a0001c0001t0001g0104 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16841T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942155 | |||||||
| chrX:49942156 | G | C | 1 | a0001c0001t0001g0104 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16842G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942156 | |||||||
| chrX:49942157 | A | C | 1 | a0001c0001t0001g0104 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16843A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942157 | |||||||
| chrX:49942159 | T | C | 1 | a0001c0001t0001g0104 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16845T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942159 | |||||||
| chrX:49942160 | T | G | 172 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(169): Show |
172 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(169): Show |
intron_variant | MODIFIER | c.16+16846T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942160 | |||||||
| chrX:49942162 | G | C | 172 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(169): Show |
172 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(169): Show |
intron_variant | MODIFIER | c.16+16848G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942162 | |||||||
| chrX:49942164 | G | A | 1 | a0001c0001t0001g0104 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16850G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942164 | |||||||
| chrX:49942166 | G | C | 172 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(169): Show |
172 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(169): Show |
intron_variant | MODIFIER | c.16+16852G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942166 | |||||||
| chrX:49942168 | C | A | 172 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(169): Show |
172 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(169): Show |
intron_variant | MODIFIER | c.16+16854C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942168 | |||||||
| chrX:49942174 | TG | T | 172 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(169): Show |
172 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(169): Show |
intron_variant | MODIFIER | c.16+16861delG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942174 | |||||||
| chrX:49942177 | T | C | 172 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(169): Show |
172 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(169): Show |
intron_variant | MODIFIER | c.16+16863T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942177 | |||||||
| chrX:49942178 | G | T | 172 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(169): Show |
172 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(169): Show |
intron_variant | MODIFIER | c.16+16864G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942178 | |||||||
| chrX:49942191 | A | C | 1 | a0001c0001t0001g0104 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.16+16877A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942191 | |||||||
| chrX:49942451 | T | C | 26 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(23): Show |
26 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(23): Show |
intron_variant | MODIFIER | c.16+17137T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942451 | |||||||
| chrX:49942525 | G | A | 1 | a0001c0001t0001g0103 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.16+17211G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942525 | |||||||
| chrX:49942561 | T | G | 1 | a0001c0002t0002g0015 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.16+17247T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942561 | |||||||
| chrX:49942617 | A | G | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.16+17303A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942617 | |||||||
| chrX:49942659 | T | G | 26 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(23): Show |
26 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(23): Show |
intron_variant | MODIFIER | c.16+17345T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942659 | |||||||
| chrX:49942807 | C | T | 26 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(23): Show |
26 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(23): Show |
intron_variant | MODIFIER | c.16+17493C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942807 | |||||||
| chrX:49942853 | C | T | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+17539C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942853 | |||||||
| chrX:49942873 | A | G | 1 | a0001c0001t0001g0134 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.16+17559A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942873 | |||||||
| chrX:49942994 | T | G | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.16+17680T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49942994 | |||||||
| chrX:49943380 | T | C | 9 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(6): Show |
9 | HG00738.hp1 HG02280.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.16+18066T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49943380 | |||||||
| chrX:49943398 | T | C | 14 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(11): Show |
14 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.16+18084T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49943398 | |||||||
| chrX:49943446 | C | T | 1 | a0001c0002t0002g0011 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.16+18132C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49943446 | |||||||
| chrX:49943529 | G | GT | 14 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(11): Show |
14 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.16+18219dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49943529 | ||||||
| chrX:49943683 | T | C | 1 | a0001c0001t0022g0136 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.16+18369T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49943683 | |||||||
| chrX:49943736 | T | G | 1 | a0001c0001t0001g0038 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.16+18422T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49943736 | |||||||
| chrX:49943883 | C | T | 45 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(42): Show |
45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.16+18569C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49943883 | |||||||
| chrX:49943884 | G | A | 1 | a0001c0001t0001g0047 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.16+18570G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49943884 | |||||||
| chrX:49943956 | G | T | 1 | a0001c0001t0001g0119 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.16+18642G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49943956 | |||||||
| chrX:49944046 | T | A | 2 | a0001c0001t0001g0168 a0001c0003t0003g0169 |
2 | HG02280.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.16+18732T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49944046 | |||||||
| chrX:49944334 | A | G | 1 | a0001c0001t0004g0164 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.16+19020A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49944334 | |||||||
| chrX:49944407 | C | G | 1 | a0001c0001t0011g0039 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.16+19093C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49944407 | |||||||
| chrX:49944504 | C | T | 1 | a0001c0001t0001g0145 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.16+19190C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49944504 | |||||||
| chrX:49944602 | T | G | 45 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(42): Show |
45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.16+19288T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49944602 | |||||||
| chrX:49944785 | G | A | 1 | a0001c0001t0001g0134 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.16+19471G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49944785 | |||||||
| chrX:49944947 | T | C | 1 | a0001c0003t0003g0166 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.16+19633T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49944947 | |||||||
| chrX:49945113 | T | C | 9 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(6): Show |
9 | HG02145.hp1 HG02615.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.16+19799T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49945113 | |||||||
| chrX:49945291 | A | G | 1 | a0001c0001t0011g0039 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.16+19977A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49945291 | |||||||
| chrX:49945330 | G | T | 14 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(11): Show |
14 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.16+20016G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49945330 | |||||||
| chrX:49945362 | G | C | 14 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(11): Show |
14 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.16+20048G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49945362 | |||||||
| chrX:49945418 | G | C | 1 | a0001c0004t0001g0048 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.16+20104G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49945418 | |||||||
| chrX:49945441 | G | A | 1 | a0001c0001t0001g0049 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.16+20127G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49945441 | |||||||
| chrX:49945594 | C | T | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.16+20280C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49945594 | |||||||
| chrX:49945604 | G | GT | 18 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0034 others(15): Show |
18 | HG00609.hp1 HG01934.hp1 HG02055.hp1 others(15): Show |
intron_variant | MODIFIER | c.16+20313dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49945604 | ||||||
| chrX:49945604 | GT | G | 13 | a0001c0001t0001g0105 a0001c0001t0001g0125 a0001c0001t0001g0168 others(10): Show |
13 | HG00738.hp1 HG02280.hp1 HG02300.hp1 others(10): Show |
intron_variant | MODIFIER | c.16+20313delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49945604 | ||||||
| chrX:49945604 | GTT | G | 5 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(2): Show |
5 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.16+20312_16+20313d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49945604 | ||||||
| chrX:49945604 | GTTT | G | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+20311_16+20313d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49945604 | ||||||
| chrX:49945609 | T | C | 2 | a0001c0003t0003g0162 a0001c0003t0003g0163 |
2 | HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.16+20295T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49945609 | |||||||
| chrX:49945763 | A | G | 4 | a0001c0001t0001g0078 a0001c0001t0001g0119 a0001c0001t0008g0079 others(1): Show |
4 | HG01099.hp1 HG01433.hp1 HG01952.hp1 others(1): Show |
intron_variant | MODIFIER | c.16+20449A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49945763 | |||||||
| chrX:49946117 | G | T | 26 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(23): Show |
26 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(23): Show |
intron_variant | MODIFIER | c.16+20803G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49946117 | |||||||
| chrX:49946234 | G | T | 1 | a0001c0001t0001g0036 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.16+20920G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49946234 | |||||||
| chrX:49946823 | CT | C | 26 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(23): Show |
26 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(23): Show |
intron_variant | MODIFIER | c.16+21518delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49946823 | ||||||
| chrX:49946931 | C | T | 2 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | HG00642.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.16+21617C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49946931 | |||||||
| chrX:49947679 | T | A | 1 | a0001c0001t0001g0050 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.16+22365T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49947679 | |||||||
| chrX:49947787 | G | A | 26 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(23): Show |
26 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(23): Show |
intron_variant | MODIFIER | c.16+22473G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49947787 | |||||||
| chrX:49948063 | C | T | 1 | a0001c0001t0001g0112 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.16+22749C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49948063 | |||||||
| chrX:49948160 | C | CT | 15 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(12): Show |
15 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.16+22860dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49948160 | ||||||
| chrX:49948632 | C | T | 4 | a0001c0001t0001g0102 a0001c0001t0001g0121 a0001c0001t0001g0142 others(1): Show |
4 | HG00642.hp1 HG01081.hp1 HG01106.hp1 others(1): Show |
intron_variant | MODIFIER | c.16+23318C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49948632 | |||||||
| chrX:49948864 | T | C | 1 | a0001c0001t0001g0145 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.16+23550T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49948864 | |||||||
| chrX:49949140 | G | A | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.16+23826G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49949140 | |||||||
| chrX:49949468 | A | T | 2 | a0001c0001t0006g0139 a0001c0001t0006g0140 |
2 | NA19009.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.16+24154A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49949468 | |||||||
| chrX:49949838 | A | G | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+24524A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49949838 | |||||||
| chrX:49949962 | C | A | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+24648C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49949962 | |||||||
| chrX:49950730 | T | TAGTA | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+25419_16+25420i others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49950730 | ||||||
| chrX:49951253 | C | T | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+25939C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49951253 | |||||||
| chrX:49951330 | G | A | 1 | a0001c0001t0001g0049 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.16+26016G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49951330 | |||||||
| chrX:49951443 | A | G | 1 | a0001c0006t0002g0138 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.16+26129A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49951443 | |||||||
| chrX:49951687 | G | A | 2 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | HG00642.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.16+26373G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49951687 | |||||||
| chrX:49951807 | C | T | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.16+26493C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49951807 | |||||||
| chrX:49951946 | A | T | 1 | a0001c0001t0001g0144 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.16+26632A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49951946 | |||||||
| chrX:49952499 | G | GT | 97 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(94): Show |
97 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(94): Show |
intron_variant | MODIFIER | c.16+27195dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49952499 | ||||||
| chrX:49952631 | C | G | 1 | a0001c0001t0001g0077 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.16+27317C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49952631 | |||||||
| chrX:49952638 | G | A | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+27324G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49952638 | |||||||
| chrX:49952875 | C | CGT | 3 | a0001c0001t0001g0168 a0001c0003t0003g0018 a0001c0003t0003g0169 |
3 | HG02280.hp1 HG02723.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.16+27570_16+27571d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49952875 | ||||||
| chrX:49952924 | C | T | 3 | a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0016 |
3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.16+27610C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49952924 | |||||||
| chrX:49952991 | T | A | 1 | a0001c0004t0001g0051 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.16+27677T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49952991 | |||||||
| chrX:49953134 | C | T | 1 | a0001c0001t0001g0151 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.16+27820C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49953134 | |||||||
| chrX:49953361 | A | T | 5 | a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0055 others(2): Show |
5 | HG01243.hp1 HG02647.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.16+28047A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49953361 | |||||||
| chrX:49953379 | C | T | 5 | a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0055 others(2): Show |
5 | HG01243.hp1 HG02647.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.16+28065C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49953379 | |||||||
| chrX:49953645 | C | T | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+28331C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49953645 | |||||||
| chrX:49953826 | A | T | 3 | a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0016 |
3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.16+28512A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49953826 | |||||||
| chrX:49953972 | A | G | 1 | a0001c0001t0001g0022 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.16+28658A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49953972 | |||||||
| chrX:49953998 | A | C | 1 | a0001c0001t0001g0145 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.16+28684A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49953998 | |||||||
| chrX:49954005 | AATTT | A | 12 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(9): Show |
12 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.16+28698_16+28701d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49954005 | ||||||
| chrX:49954216 | G | A | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+28902G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49954216 | |||||||
| chrX:49955306 | C | T | 2 | a0001c0003t0003g0162 a0001c0003t0003g0163 |
2 | HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.16+29992C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49955306 | |||||||
| chrX:49955393 | GT | G | 18 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(15): Show |
18 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(15): Show |
intron_variant | MODIFIER | c.16+30092delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49955393 | ||||||
| chrX:49955434 | C | T | 1 | a0001c0003t0003g0163 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.16+30120C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49955434 | |||||||
| chrX:49955808 | C | T | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+30494C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49955808 | |||||||
| chrX:49955809 | G | A | 1 | a0001c0001t0011g0039 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.16+30495G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49955809 | |||||||
| chrX:49955858 | G | A | 1 | a0001c0001t0004g0137 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.16+30544G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49955858 | |||||||
| chrX:49955880 | G | T | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+30566G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49955880 | |||||||
| chrX:49956254 | G | A | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+30940G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49956254 | |||||||
| chrX:49956589 | G | A | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.16+31275G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49956589 | |||||||
| chrX:49956596 | G | A | 2 | a0001c0001t0001g0050 a0001c0001t0001g0097 |
2 | HG00609.hp1 NA18952.hp1 |
intron_variant | MODIFIER | c.16+31282G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49956596 | |||||||
| chrX:49956640 | GACAGGTA others(5): Show |
G | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.16+31330_16+31341d others(14): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49956640 | ||||||
| chrX:49956807 | G | A | 2 | a0001c0001t0001g0106 a0001c0001t0001g0113 |
2 | NA18984.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.16+31493G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49956807 | |||||||
| chrX:49956853 | C | T | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.16+31539C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49956853 | |||||||
| chrX:49957269 | C | G | 1 | a0001c0002t0019g0010 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.16+31955C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49957269 | |||||||
| chrX:49957278 | C | T | 4 | a0001c0001t0001g0078 a0001c0001t0001g0119 a0001c0001t0008g0079 others(1): Show |
4 | HG01099.hp1 HG01433.hp1 HG01952.hp1 others(1): Show |
intron_variant | MODIFIER | c.16+31964C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49957278 | |||||||
| chrX:49957424 | T | G | 1 | a0001c0001t0001g0056 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.16+32110T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49957424 | |||||||
| chrX:49957952 | G | A | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.16+32638G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49957952 | |||||||
| chrX:49958002 | G | C | 1 | a0001c0001t0001g0036 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.16+32688G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49958002 | |||||||
| chrX:49958893 | G | C | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+33579G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49958893 | |||||||
| chrX:49959039 | C | CT | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+33734dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49959039 | ||||||
| chrX:49959132 | G | T | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.16+33818G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49959132 | |||||||
| chrX:49959447 | T | A | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+34133T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49959447 | |||||||
| chrX:49959691 | C | T | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+34377C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49959691 | |||||||
| chrX:49959859 | C | T | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.16+34545C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49959859 | |||||||
| chrX:49960586 | C | G | 12 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(9): Show |
12 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.16+35272C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49960586 | |||||||
| chrX:49961159 | A | G | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.16+35845A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49961159 | |||||||
| chrX:49961380 | C | A | 1 | a0001c0001t0001g0028 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.16+36066C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49961380 | |||||||
| chrX:49961750 | A | G | 1 | a0001c0001t0001g0116 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.16+36436A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49961750 | |||||||
| chrX:49961841 | G | A | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+36527G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49961841 | |||||||
| chrX:49961916 | G | A | 2 | a0001c0001t0001g0034 a0001c0001t0001g0038 |
2 | HG03688.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.16+36602G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49961916 | |||||||
| chrX:49962327 | G | A | 88 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(85): Show |
88 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(85): Show |
intron_variant | MODIFIER | c.16+37013G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49962327 | |||||||
| chrX:49962383 | T | A | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.16+37069T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49962383 | |||||||
| chrX:49962384 | C | T | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.16+37070C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49962384 | |||||||
| chrX:49962542 | A | T | 45 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(42): Show |
45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.16+37228A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49962542 | |||||||
| chrX:49962839 | C | G | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.16+37525C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49962839 | |||||||
| chrX:49963021 | G | A | 12 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(9): Show |
12 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.16+37707G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49963021 | |||||||
| chrX:49963577 | A | T | 1 | a0001c0003t0003g0163 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.16+38263A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49963577 | |||||||
| chrX:49963866 | T | C | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+38552T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49963866 | |||||||
| chrX:49963941 | C | T | 1 | a0001c0001t0001g0100 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.16+38627C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49963941 | |||||||
| chrX:49964255 | A | C | 1 | a0001c0001t0001g0072 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.16+38941A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49964255 | |||||||
| chrX:49964377 | C | T | 1 | a0001c0001t0005g0173 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.16+39063C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49964377 | |||||||
| chrX:49964378 | G | A | 1 | a0001c0002t0002g0004 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.16+39064G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49964378 | |||||||
| chrX:49964625 | A | C | 1 | a0001c0001t0001g0102 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.16+39311A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49964625 | |||||||
| chrX:49964657 | CTGTT | C | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+39345_16+39348d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49964657 | ||||||
| chrX:49964882 | A | C | 1 | a0001c0001t0001g0125 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.16+39568A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49964882 | |||||||
| chrX:49965443 | A | G | 1 | a0001c0001t0001g0150 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.16+40129A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49965443 | |||||||
| chrX:49965863 | TGTG | T | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+40553_16+40555d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49965863 | ||||||
| chrX:49965895 | T | C | 6 | a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 others(3): Show |
6 | HG02145.hp1 HG02615.hp2 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.16+40581T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49965895 | |||||||
| chrX:49965896 | A | G | 1 | a0001c0001t0001g0082 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.16+40582A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49965896 | |||||||
| chrX:49965972 | C | T | 14 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(11): Show |
14 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.16+40658C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49965972 | |||||||
| chrX:49966060 | T | TC | 14 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(11): Show |
14 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.16+40747dupC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966060 | ||||||
| chrX:49966245 | A | C | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+40931A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966245 | |||||||
| chrX:49966363 | ATTTTCTT others(6): Show |
A | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+41052_16+41064d others(15): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966363 | ||||||
| chrX:49966577 | TATATCTC others(2378): Show |
T | 45 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(42): Show |
45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.16+41279_16+43663d others(2): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966577 | ||||||
| chrX:49966589 | C | CT | 16 | a0001c0001t0001g0040 a0001c0001t0001g0060 a0001c0001t0001g0106 others(13): Show |
16 | HG00280.hp1 HG00621.hp1 HG01109.hp1 others(13): Show |
intron_variant | MODIFIER | c.16+41297dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966589 | ||||||
| chrX:49966589 | C | CTT | 12 | a0001c0001t0001g0028 a0001c0001t0001g0050 a0001c0001t0001g0082 others(9): Show |
12 | HG02027.hp1 HG02055.hp1 HG02135.hp1 others(9): Show |
intron_variant | MODIFIER | c.16+41296_16+41297d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966589 | ||||||
| chrX:49966589 | C | CTTT | 6 | a0001c0001t0001g0062 a0001c0001t0001g0088 a0001c0001t0001g0152 others(3): Show |
6 | HG00741.hp1 HG03492.hp1 HG03710.hp1 others(3): Show |
intron_variant | MODIFIER | c.16+41295_16+41297d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966589 | ||||||
| chrX:49966603 | T | A | 5 | a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0055 others(2): Show |
5 | HG01243.hp1 HG02647.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.16+41289T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966603 | |||||||
| chrX:49966603 | TTTTTTTT others(10): Show |
T | 4 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0070 others(1): Show |
4 | HG00140.hp1 HG01074.hp1 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.16+41301_16+41317d others(19): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966603 | ||||||
| chrX:49966605 | TTTTTTTA others(8): Show |
T | 1 | a0001c0001t0001g0105 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.16+41298_16+41312d others(17): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966605 | ||||||
| chrX:49966608 | T | TA | 5 | a0001c0001t0001g0052 a0001c0001t0001g0078 a0001c0001t0001g0119 others(2): Show |
5 | HG01099.hp1 HG01433.hp1 HG01952.hp1 others(2): Show |
intron_variant | MODIFIER | c.16+41294_16+41295i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966608 | |||||||
| chrX:49966609 | T | A | 2 | a0001c0001t0001g0026 a0001c0001t0001g0027 |
2 | HG01934.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.16+41295T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966609 | |||||||
| chrX:49966610 | TTA | T | 14 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(11): Show |
14 | HG00642.hp1 HG01081.hp1 HG01106.hp1 others(11): Show |
intron_variant | MODIFIER | c.16+41298_16+41299d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966610 | ||||||
| chrX:49966610 | TTATTTTT others(3): Show |
T | 1 | a0001c0001t0001g0100 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.16+41298_16+41307d others(12): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966610 | ||||||
| chrX:49966611 | T | A | 1 | a0001c0001t0001g0036 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.16+41297T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966611 | |||||||
| chrX:49966611 | TA | T | 16 | a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0044 others(13): Show |
16 | HG01069.hp1 HG01261.hp1 HG02083.hp1 others(13): Show |
intron_variant | MODIFIER | c.16+41298delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966611 | |||||||
| chrX:49966612 | A | AT | 4 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(1): Show |
4 | HG01258.hp1 HG01928.hp1 HG01943.hp1 others(1): Show |
intron_variant | MODIFIER | c.16+41305dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49966612 | ||||||
| chrX:49966612 | A | T | 78 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 others(75): Show |
78 | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(75): Show |
intron_variant | MODIFIER | c.16+41298A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966612 | |||||||
| chrX:49966613 | T | A | 2 | a0001c0001t0001g0034 a0001c0001t0001g0038 |
2 | HG03688.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.16+41299T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966613 | |||||||
| chrX:49966620 | A | T | 92 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(89): Show |
92 | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(89): Show |
intron_variant | MODIFIER | c.16+41306A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966620 | |||||||
| chrX:49966755 | A | G | 1 | a0001c0001t0001g0084 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.16+41441A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49966755 | |||||||
| chrX:49967113 | C | G | 3 | a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0007g0122 |
3 | HG02738.hp1 NA18984.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.16+41799C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49967113 | |||||||
| chrX:49967116 | A | C | 3 | a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0007g0122 |
3 | HG02738.hp1 NA18984.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.16+41802A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49967116 | |||||||
| chrX:49967260 | G | A | 1 | a0001c0001t0001g0150 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.16+41946G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49967260 | |||||||
| chrX:49967550 | G | A | 2 | a0001c0001t0001g0146 a0001c0001t0001g0153 |
2 | NA18959.hp1 NA18988.hp1 |
intron_variant | MODIFIER | c.16+42236G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49967550 | |||||||
| chrX:49967617 | C | G | 1 | a0001c0001t0001g0121 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.16+42303C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49967617 | |||||||
| chrX:49967754 | A | G | 1 | a0001c0001t0001g0064 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.16+42440A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49967754 | |||||||
| chrX:49968206 | A | G | 13 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(10): Show |
13 | HG01192.hp1 HG01258.hp1 HG01928.hp1 others(10): Show |
intron_variant | MODIFIER | c.16+42892A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49968206 | |||||||
| chrX:49968276 | A | C | 1 | a0001c0001t0001g0059 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.16+42962A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49968276 | |||||||
| chrX:49968476 | T | C | 1 | a0001c0001t0001g0089 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.16+43162T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49968476 | |||||||
| chrX:49969023 | T | G | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.16+43709T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49969023 | |||||||
| chrX:49969088 | T | C | 1 | a0001c0001t0001g0151 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.16+43774T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49969088 | |||||||
| chrX:49969102 | A | G | 45 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(42): Show |
45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.16+43788A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49969102 | |||||||
| chrX:49969201 | C | A | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+43887C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49969201 | |||||||
| chrX:49969996 | C | A | 169 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(166): Show |
169 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(166): Show |
intron_variant | MODIFIER | c.16+44682C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49969996 | |||||||
| chrX:49970345 | C | A | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+45031C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49970345 | |||||||
| chrX:49970631 | A | G | 1 | a0001c0001t0001g0116 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.16+45317A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49970631 | |||||||
| chrX:49970789 | T | C | 1 | a0001c0001t0004g0164 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.16+45475T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49970789 | |||||||
| chrX:49971326 | A | G | 2 | a0001c0001t0001g0159 a0001c0001t0001g0160 |
2 | NA18948.hp1 NA18970.hp1 |
intron_variant | MODIFIER | c.16+46012A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49971326 | |||||||
| chrX:49971333 | C | T | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+46019C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49971333 | |||||||
| chrX:49971385 | G | C | 28 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(25): Show |
28 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(25): Show |
intron_variant | MODIFIER | c.16+46071G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49971385 | |||||||
| chrX:49971541 | A | G | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+46227A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49971541 | |||||||
| chrX:49971569 | T | C | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.16+46255T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49971569 | |||||||
| chrX:49971615 | G | A | 1 | a0001c0001t0001g0036 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.16+46301G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49971615 | |||||||
| chrX:49971688 | G | A | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+46374G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49971688 | |||||||
| chrX:49971792 | C | T | 45 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(42): Show |
45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.16+46478C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49971792 | |||||||
| chrX:49971806 | T | G | 14 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(11): Show |
14 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.16+46492T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49971806 | |||||||
| chrX:49971917 | G | A | 1 | a0001c0001t0001g0082 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.16+46603G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49971917 | |||||||
| chrX:49972005 | A | T | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+46691A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49972005 | |||||||
| chrX:49972011 | G | C | 1 | a0001c0001t0001g0080 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.16+46697G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49972011 | |||||||
| chrX:49972112 | G | GGT | 15 | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0099 others(12): Show |
15 | HG00642.hp1 HG01074.hp1 HG01358.hp1 others(12): Show |
intron_variant | MODIFIER | c.16+46845_16+46846d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49972112 | ||||||
| chrX:49972112 | G | GGTGT | 5 | a0001c0001t0001g0072 a0001c0001t0001g0104 a0001c0001t0001g0114 others(2): Show |
5 | HG02698.hp1 HG04204.hp1 NA18974.hp1 others(2): Show |
intron_variant | MODIFIER | c.16+46843_16+46846d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49972112 | ||||||
| chrX:49972112 | GGT | G | 56 | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0033 others(53): Show |
56 | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(53): Show |
intron_variant | MODIFIER | c.16+46845_16+46846d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49972112 | ||||||
| chrX:49972112 | GGTGT | G | 25 | a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 others(22): Show |
25 | HG01258.hp1 HG01433.hp1 HG01928.hp1 others(22): Show |
intron_variant | MODIFIER | c.16+46843_16+46846d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49972112 | ||||||
| chrX:49972112 | GGTGTGT | G | 12 | a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0001g0047 others(9): Show |
12 | HG00741.hp1 HG01109.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.16+46841_16+46846d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49972112 | ||||||
| chrX:49972112 | GGTGTGTG others(1): Show |
G | 23 | a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0073 others(20): Show |
23 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(20): Show |
intron_variant | MODIFIER | c.16+46839_16+46846d others(10): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49972112 | ||||||
| chrX:49972112 | GGTGTGTG others(3): Show |
G | 5 | a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0126 others(2): Show |
5 | HG02451.hp1 HG02451.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.16+46837_16+46846d others(12): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49972112 | ||||||
| chrX:49972112 | GGTGTGTG others(7): Show |
G | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.16+46833_16+46846d others(16): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49972112 | ||||||
| chrX:49972112 | GGTGTGTG others(9): Show |
G | 3 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0105 |
3 | HG00140.hp1 HG01515.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.16+46831_16+46846d others(18): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49972112 | ||||||
| chrX:49972112 | GGTGTGTG others(11): Show |
G | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+46829_16+46846d others(20): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49972112 | ||||||
| chrX:49972383 | T | C | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+47069T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49972383 | |||||||
| chrX:49972518 | C | T | 5 | a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 others(2): Show |
5 | HG02145.hp1 HG02615.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.16+47204C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49972518 | |||||||
| chrX:49973480 | C | CATTAGGT | 9 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(6): Show |
9 | HG00738.hp1 HG02280.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.16+48168_16+48169i others(9): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49973480 | ||||||
| chrX:49973939 | T | C | 3 | a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0016 |
3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.16+48625T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49973939 | |||||||
| chrX:49974074 | G | A | 14 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(11): Show |
14 | HG00738.hp1 HG01255.hp1 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.16+48760G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49974074 | |||||||
| chrX:49974316 | G | C | 1 | a0001c0001t0001g0102 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.16+49002G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49974316 | |||||||
| chrX:49974412 | C | CT | 19 | a0001c0001t0001g0030 a0001c0001t0001g0102 a0001c0001t0001g0126 others(16): Show |
19 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.16+49109dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49974412 | ||||||
| chrX:49974790 | G | A | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.16+49476G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49974790 | |||||||
| chrX:49974957 | T | C | 1 | a0001c0002t0002g0130 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.16+49643T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49974957 | |||||||
| chrX:49975165 | T | C | 1 | a0001c0001t0001g0021 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.16+49851T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49975165 | |||||||
| chrX:49976326 | G | A | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.16+51012G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49976326 | |||||||
| chrX:49976356 | C | G | 2 | a0001c0002t0002g0007 a0001c0002t0002g0009 |
2 | HG02145.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.16+51042C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49976356 | |||||||
| chrX:49976593 | A | G | 1 | a0001c0001t0011g0039 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.16+51279A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49976593 | |||||||
| chrX:49976623 | G | A | 1 | a0001c0001t0001g0078 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.16+51309G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49976623 | |||||||
| chrX:49976886 | A | G | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.16+51572A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49976886 | |||||||
| chrX:49977174 | A | G | 1 | a0001c0002t0002g0014 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.16+51860A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49977174 | |||||||
| chrX:49978354 | A | G | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.16+53040A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49978354 | |||||||
| chrX:49978495 | A | C | 1 | a0001c0001t0001g0094 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.16+53181A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49978495 | |||||||
| chrX:49978554 | T | C | 45 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(42): Show |
45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.16+53240T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49978554 | |||||||
| chrX:49978818 | T | C | 1 | a0001c0001t0001g0054 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.16+53504T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49978818 | |||||||
| chrX:49978924 | G | T | 14 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(11): Show |
14 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(11): Show |
intron_variant | MODIFIER | c.16+53610G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49978924 | |||||||
| chrX:49979268 | T | C | 45 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(42): Show |
45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.16+53954T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49979268 | |||||||
| chrX:49979926 | A | T | 1 | a0001c0001t0001g0129 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.16+54612A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49979926 | |||||||
| chrX:49980051 | A | G | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+54737A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49980051 | |||||||
| chrX:49980148 | T | C | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+54834T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49980148 | |||||||
| chrX:49980170 | A | G | 3 | a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0016 |
3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.16+54856A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49980170 | |||||||
| chrX:49980183 | C | G | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+54869C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49980183 | |||||||
| chrX:49980185 | T | G | 3 | a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0016 |
3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.16+54871T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49980185 | |||||||
| chrX:49980194 | G | A | 12 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(9): Show |
12 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.16+54880G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49980194 | |||||||
| chrX:49980735 | C | T | 31 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(28): Show |
31 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(28): Show |
intron_variant | MODIFIER | c.16+55421C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49980735 | |||||||
| chrX:49981050 | G | A | 9 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(6): Show |
9 | HG00738.hp1 HG02280.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.16+55736G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49981050 | |||||||
| chrX:49981178 | G | A | 1 | a0001c0001t0001g0125 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.16+55864G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49981178 | |||||||
| chrX:49981693 | C | CT | 10 | a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0045 others(7): Show |
10 | HG01934.hp1 HG02809.hp2 NA18747.hp1 others(7): Show |
intron_variant | MODIFIER | c.16+56394dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49981693 | ||||||
| chrX:49981693 | CT | C | 21 | a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0113 others(18): Show |
21 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(18): Show |
intron_variant | MODIFIER | c.16+56394delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49981693 | ||||||
| chrX:49982051 | T | C | 3 | a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0016 |
3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.16+56737T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49982051 | |||||||
| chrX:49982114 | A | G | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+56800A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49982114 | |||||||
| chrX:49982201 | G | A | 14 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(11): Show |
14 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(11): Show |
intron_variant | MODIFIER | c.16+56887G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49982201 | |||||||
| chrX:49982702 | C | T | 1 | a0001c0001t0001g0080 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.16+57388C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49982702 | |||||||
| chrX:49982760 | C | T | 1 | a0001c0001t0001g0133 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.16+57446C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49982760 | |||||||
| chrX:49983245 | A | G | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.16+57931A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49983245 | |||||||
| chrX:49984060 | T | G | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-58256T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49984060 | |||||||
| chrX:49984302 | G | A | 9 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(6): Show |
9 | HG00738.hp1 HG02280.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.17-58014G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49984302 | |||||||
| chrX:49984449 | A | C | 170 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(167): Show |
170 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(167): Show |
intron_variant | MODIFIER | c.17-57867A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49984449 | |||||||
| chrX:49984490 | A | G | 1 | a0001c0001t0001g0046 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.17-57826A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49984490 | |||||||
| chrX:49984975 | G | GT | 5 | a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0003t0003g0165 others(2): Show |
5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.17-57331dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49984975 | ||||||
| chrX:49986138 | C | T | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-56178C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49986138 | |||||||
| chrX:49986410 | C | CT | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-55900dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49986410 | ||||||
| chrX:49986634 | G | A | 12 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(9): Show |
12 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.17-55682G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49986634 | |||||||
| chrX:49987139 | G | T | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-55177G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987139 | |||||||
| chrX:49987141 | A | G | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-55175A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987141 | |||||||
| chrX:49987144 | G | C | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-55172G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987144 | |||||||
| chrX:49987145 | A | G | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-55171A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987145 | |||||||
| chrX:49987147 | A | G | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-55169A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987147 | |||||||
| chrX:49987149 | A | G | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-55167A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987149 | |||||||
| chrX:49987151 | TCTTATTC others(6): Show |
T | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-55164_17-55152d others(15): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987151 | |||||||
| chrX:49987194 | A | T | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-55122A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987194 | |||||||
| chrX:49987195 | T | A | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-55121T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987195 | |||||||
| chrX:49987371 | A | T | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54945A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987371 | |||||||
| chrX:49987718 | C | G | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54598C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987718 | |||||||
| chrX:49987804 | A | T | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54512A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49987804 | |||||||
| chrX:49988012 | G | A | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-54304G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988012 | |||||||
| chrX:49988034 | A | G | 1 | a0001c0003t0003g0162 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.17-54282A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988034 | |||||||
| chrX:49988127 | A | G | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-54189A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988127 | |||||||
| chrX:49988173 | T | A | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54143T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988173 | |||||||
| chrX:49988306 | T | A | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-54010T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988306 | |||||||
| chrX:49988348 | G | T | 1 | a0001c0001t0001g0064 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.17-53968G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988348 | |||||||
| chrX:49988382 | T | A | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53934T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988382 | |||||||
| chrX:49988383 | A | T | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53933A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988383 | |||||||
| chrX:49988478 | T | C | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53838T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988478 | |||||||
| chrX:49988502 | A | T | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53814A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988502 | |||||||
| chrX:49988550 | G | T | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53766G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988550 | |||||||
| chrX:49988718 | T | A | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53598T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988718 | |||||||
| chrX:49988758 | T | G | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53558T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49988758 | |||||||
| chrX:49989072 | C | T | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53244C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989072 | |||||||
| chrX:49989073 | T | C | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53243T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989073 | |||||||
| chrX:49989074 | C | T | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53242C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989074 | |||||||
| chrX:49989074 | CT | C | 42 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(39): Show |
42 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(39): Show |
intron_variant | MODIFIER | c.17-53227delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989074 | ||||||
| chrX:49989149 | T | C | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.17-53167T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989149 | |||||||
| chrX:49989170 | T | A | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53146T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989170 | |||||||
| chrX:49989289 | G | A | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-53027G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989289 | |||||||
| chrX:49989317 | T | A | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52999T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989317 | |||||||
| chrX:49989341 | T | C | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52975T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989341 | |||||||
| chrX:49989348 | C | A | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52968C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989348 | |||||||
| chrX:49989364 | A | T | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52952A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989364 | |||||||
| chrX:49989370 | T | A | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52946T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989370 | |||||||
| chrX:49989471 | ATCT | A | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-52841_17-52839d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49989471 | ||||||
| chrX:49989524 | T | G | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52792T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989524 | |||||||
| chrX:49989576 | T | A | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52740T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989576 | |||||||
| chrX:49989614 | T | A | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52702T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989614 | |||||||
| chrX:49989664 | T | G | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52652T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989664 | |||||||
| chrX:49989747 | T | C | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52569T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989747 | |||||||
| chrX:49989759 | T | C | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52557T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989759 | |||||||
| chrX:49989772 | A | T | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52544A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989772 | |||||||
| chrX:49989773 | T | G | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52543T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989773 | |||||||
| chrX:49989774 | G | C | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52542G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989774 | |||||||
| chrX:49989781 | T | C | 2 | a0001c0001t0005g0170 a0001c0001t0005g0173 |
2 | HG01081.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.17-52535T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989781 | |||||||
| chrX:49989783 | T | A | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52533T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989783 | |||||||
| chrX:49989784 | A | T | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52532A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989784 | |||||||
| chrX:49989788 | A | C | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52528A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989788 | |||||||
| chrX:49989797 | T | G | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52519T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989797 | |||||||
| chrX:49989831 | C | A | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52485C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989831 | |||||||
| chrX:49989851 | T | G | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52465T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989851 | |||||||
| chrX:49989871 | A | G | 1 | a0001c0002t0002g0011 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.17-52445A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989871 | |||||||
| chrX:49989898 | A | C | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52418A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989898 | |||||||
| chrX:49989902 | T | A | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52414T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989902 | |||||||
| chrX:49989941 | T | A | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52375T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989941 | |||||||
| chrX:49989952 | C | T | 2 | a0001c0003t0003g0165 a0001c0003t0003g0166 |
2 | HG01884.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.17-52364C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49989952 | |||||||
| chrX:49990023 | A | G | 1 | a0001c0001t0001g0078 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.17-52293A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49990023 | |||||||
| chrX:49990064 | T | C | 1 | a0001c0001t0001g0150 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.17-52252T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49990064 | |||||||
| chrX:49990089 | A | T | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.17-52227A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49990089 | |||||||
| chrX:49990165 | G | A | 11 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(8): Show |
11 | HG00738.hp1 HG01255.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.17-52151G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49990165 | |||||||
| chrX:49990340 | A | T | 9 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(6): Show |
9 | HG00738.hp1 HG02280.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.17-51976A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49990340 | |||||||
| chrX:49990832 | A | ATT | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-51484_17-51483i others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49990832 | |||||||
| chrX:49990835 | T | A | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-51481T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49990835 | |||||||
| chrX:49990836 | A | AG | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-51479dupG | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49990836 | ||||||
| chrX:49990961 | A | C | 1 | a0001c0001t0001g0093 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.17-51355A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49990961 | |||||||
| chrX:49990993 | A | G | 2 | a0001c0003t0003g0165 a0001c0003t0003g0166 |
2 | HG01884.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.17-51323A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49990993 | |||||||
| chrX:49990994 | T | C | 4 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0112 others(1): Show |
4 | HG00621.hp1 NA18944.hp1 NA18984.hp1 others(1): Show |
intron_variant | MODIFIER | c.17-51322T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49990994 | |||||||
| chrX:49991028 | G | A | 9 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(6): Show |
9 | HG00738.hp1 HG02280.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.17-51288G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49991028 | |||||||
| chrX:49991112 | A | G | 1 | a0001c0001t0004g0164 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.17-51204A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49991112 | |||||||
| chrX:49991653 | C | A | 2 | a0001c0001t0001g0168 a0001c0003t0003g0169 |
2 | HG02280.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.17-50663C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49991653 | |||||||
| chrX:49991759 | C | T | 1 | a0001c0001t0001g0035 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.17-50557C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49991759 | |||||||
| chrX:49992238 | C | G | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-50078C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49992238 | |||||||
| chrX:49992934 | G | A | 1 | a0001c0001t0001g0108 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.17-49382G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49992934 | |||||||
| chrX:49994161 | T | A | 45 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(42): Show |
45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.17-48155T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49994161 | |||||||
| chrX:49994282 | T | C | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-48034T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49994282 | |||||||
| chrX:49994371 | A | G | 3 | a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0016 |
3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.17-47945A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49994371 | |||||||
| chrX:49994525 | A | AGGAAGAG others(4): Show |
19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-47791_17-47790i others(13): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49994525 | |||||||
| chrX:49994526 | T | A | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-47790T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49994526 | |||||||
| chrX:49994527 | T | A | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-47789T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49994527 | |||||||
| chrX:49995007 | C | T | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-47309C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49995007 | |||||||
| chrX:49995134 | A | T | 5 | a0001c0001t0001g0052 a0001c0001t0001g0078 a0001c0001t0001g0119 others(2): Show |
5 | HG01099.hp1 HG01433.hp1 HG01952.hp1 others(2): Show |
intron_variant | MODIFIER | c.17-47182A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49995134 | |||||||
| chrX:49995172 | A | G | 1 | a0001c0002t0002g0014 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.17-47144A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49995172 | |||||||
| chrX:49995728 | A | G | 14 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(11): Show |
14 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.17-46588A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49995728 | |||||||
| chrX:49996242 | A | G | 1 | a0001c0001t0001g0155 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.17-46074A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49996242 | |||||||
| chrX:49996420 | G | T | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-45896G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49996420 | |||||||
| chrX:49996531 | C | T | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-45785C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49996531 | |||||||
| chrX:49996588 | T | C | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-45728T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49996588 | |||||||
| chrX:49996688 | T | C | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-45628T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49996688 | |||||||
| chrX:49996846 | C | T | 2 | a0001c0001t0001g0034 a0001c0001t0001g0038 |
2 | HG03688.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.17-45470C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49996846 | |||||||
| chrX:49996848 | C | T | 2 | a0001c0001t0001g0034 a0001c0001t0001g0038 |
2 | HG03688.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.17-45468C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49996848 | |||||||
| chrX:49996913 | T | C | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-45403T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49996913 | |||||||
| chrX:49997017 | T | C | 97 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(94): Show |
97 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(94): Show |
intron_variant | MODIFIER | c.17-45299T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49997017 | |||||||
| chrX:49997270 | T | G | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-45046T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49997270 | |||||||
| chrX:49997626 | G | A | 14 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(11): Show |
14 | HG00738.hp1 HG01255.hp1 HG01884.hp1 others(11): Show |
intron_variant | MODIFIER | c.17-44690G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49997626 | |||||||
| chrX:49998217 | T | G | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-44099T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49998217 | |||||||
| chrX:49998338 | G | A | 2 | a0001c0003t0003g0162 a0001c0003t0003g0163 |
2 | HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.17-43978G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49998338 | |||||||
| chrX:49998350 | A | G | 1 | a0001c0001t0004g0164 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.17-43966A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49998350 | |||||||
| chrX:49998953 | T | C | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.17-43363T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49998953 | |||||||
| chrX:49999063 | C | T | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-43253C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49999063 | |||||||
| chrX:49999106 | C | T | 1 | a0001c0006t0002g0138 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.17-43210C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49999106 | |||||||
| chrX:49999342 | C | T | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-42974C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49999342 | |||||||
| chrX:49999409 | CT | C | 12 | a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0064 others(9): Show |
12 | HG01081.hp2 HG01943.hp1 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.17-42890delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 49999409 | ||||||
| chrX:49999525 | C | T | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-42791C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49999525 | |||||||
| chrX:49999577 | G | T | 1 | a0001c0001t0001g0135 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.17-42739G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49999577 | |||||||
| chrX:49999860 | C | T | 12 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(9): Show |
12 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.17-42456C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 49999860 | |||||||
| chrX:50000121 | A | T | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-42195A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50000121 | |||||||
| chrX:50000140 | G | A | 1 | a0001c0002t0002g0130 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.17-42176G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50000140 | |||||||
| chrX:50000203 | A | G | 1 | a0001c0001t0001g0059 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.17-42113A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50000203 | |||||||
| chrX:50000388 | G | T | 1 | a0001c0001t0001g0077 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.17-41928G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50000388 | |||||||
| chrX:50000419 | C | T | 45 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(42): Show |
45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.17-41897C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50000419 | |||||||
| chrX:50000525 | G | A | 1 | a0001c0002t0002g0014 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.17-41791G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50000525 | |||||||
| chrX:50000629 | G | C | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-41687G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50000629 | |||||||
| chrX:50000881 | C | T | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-41435C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50000881 | |||||||
| chrX:50001411 | A | T | 22 | a0001c0001t0001g0041 a0001c0001t0004g0164 a0001c0001t0010g0019 others(19): Show |
22 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.17-40905A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50001411 | |||||||
| chrX:50001467 | C | CT | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-40841dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50001467 | ||||||
| chrX:50001616 | TC | T | 12 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(9): Show |
12 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.17-40694delC | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50001616 | ||||||
| chrX:50001623 | A | C | 1 | a0001c0001t0001g0129 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.17-40693A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50001623 | |||||||
| chrX:50001629 | T | C | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-40687T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50001629 | |||||||
| chrX:50001641 | A | G | 31 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(28): Show |
31 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(28): Show |
intron_variant | MODIFIER | c.17-40675A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50001641 | |||||||
| chrX:50002101 | C | CT | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-40202dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002101 | ||||||
| chrX:50002101 | CT | C | 22 | a0001c0001t0001g0035 a0001c0001t0001g0072 a0001c0001t0001g0110 others(19): Show |
22 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.17-40202delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002101 | ||||||
| chrX:50002264 | C | T | 1 | a0001c0001t0001g0103 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.17-40052C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002264 | |||||||
| chrX:50002344 | A | G | 1 | a0001c0001t0001g0107 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.17-39972A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002344 | |||||||
| chrX:50002422 | A | G | 31 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(28): Show |
31 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(28): Show |
intron_variant | MODIFIER | c.17-39894A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002422 | |||||||
| chrX:50002494 | T | G | 1 | a0001c0001t0001g0078 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.17-39822T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002494 | |||||||
| chrX:50002630 | T | A | 14 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(11): Show |
14 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.17-39686T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002630 | |||||||
| chrX:50002659 | CTCTG | C | 3 | a0001c0001t0001g0055 a0001c0001t0004g0164 a0001c0002t0009g0017 |
3 | HG01243.hp1 NA19030.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.17-39653_17-39650d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002659 | ||||||
| chrX:50002663 | G | C | 16 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(13): Show |
16 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(13): Show |
intron_variant | MODIFIER | c.17-39653G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002663 | |||||||
| chrX:50002663 | G | GTC | 5 | a0001c0001t0001g0120 a0001c0003t0003g0018 a0001c0003t0003g0162 others(2): Show |
5 | HG00738.hp1 HG02280.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.17-39635_17-39634d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002663 | ||||||
| chrX:50002669 | C | G | 19 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(16): Show |
19 | HG01261.hp1 HG02040.hp1 HG02071.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-39647C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002669 | |||||||
| chrX:50002677 | CTCTCTGT others(3): Show |
C | 3 | a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0016 |
3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.17-39637_17-39628d others(12): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002677 | ||||||
| chrX:50002679 | C | CTG | 6 | a0001c0001t0001g0030 a0001c0001t0001g0084 a0001c0001t0001g0126 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-39636_17-39635i others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002679 | ||||||
| chrX:50002679 | C | G | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-39637C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002679 | |||||||
| chrX:50002679 | CTCTGTG | C | 12 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(9): Show |
12 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.17-39635_17-39630d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002679 | ||||||
| chrX:50002681 | C | CTG | 25 | a0001c0001t0001g0028 a0001c0001t0001g0044 a0001c0001t0001g0047 others(22): Show |
25 | HG01081.hp2 HG01099.hp1 HG01433.hp1 others(22): Show |
intron_variant | MODIFIER | c.17-39600_17-39599d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002681 | ||||||
| chrX:50002681 | C | CTGTG | 4 | a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0121 others(1): Show |
4 | HG01106.hp1 HG01884.hp1 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.17-39602_17-39599d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002681 | ||||||
| chrX:50002681 | C | CTGTGTG | 5 | a0001c0001t0001g0125 a0001c0001t0010g0019 a0001c0001t0010g0020 others(2): Show |
5 | HG02486.hp1 HG02622.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.17-39604_17-39599d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002681 | ||||||
| chrX:50002681 | C | G | 10 | a0001c0001t0001g0030 a0001c0001t0001g0055 a0001c0001t0001g0065 others(7): Show |
10 | HG00741.hp2 HG01070.hp2 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.17-39635C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002681 | |||||||
| chrX:50002681 | CTG | C | 21 | a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0040 others(18): Show |
21 | HG01069.hp1 HG01070.hp1 HG02083.hp1 others(18): Show |
intron_variant | MODIFIER | c.17-39600_17-39599d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002681 | ||||||
| chrX:50002681 | CTGTGTG | C | 2 | a0001c0001t0012g0148 a0001c0002t0002g0014 |
2 | HG00280.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.17-39604_17-39599d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50002681 | ||||||
| chrX:50002683 | G | C | 13 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(10): Show |
13 | HG00642.hp1 HG00673.hp1 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.17-39633G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002683 | |||||||
| chrX:50002685 | G | C | 1 | a0001c0001t0001g0168 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.17-39631G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002685 | |||||||
| chrX:50002739 | G | T | 12 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(9): Show |
12 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.17-39577G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50002739 | |||||||
| chrX:50003409 | T | C | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-38907T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50003409 | |||||||
| chrX:50003620 | T | C | 28 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(25): Show |
28 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(25): Show |
intron_variant | MODIFIER | c.17-38696T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50003620 | |||||||
| chrX:50003803 | TAG | T | 28 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(25): Show |
28 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(25): Show |
intron_variant | MODIFIER | c.17-38509_17-38508d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50003803 | ||||||
| chrX:50004339 | T | G | 45 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(42): Show |
45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.17-37977T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50004339 | |||||||
| chrX:50004405 | G | A | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-37911G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50004405 | |||||||
| chrX:50004430 | G | T | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-37886G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50004430 | |||||||
| chrX:50004575 | G | T | 12 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(9): Show |
12 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(9): Show |
intron_variant | MODIFIER | c.17-37741G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50004575 | |||||||
| chrX:50005300 | G | A | 1 | a0001c0001t0001g0099 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.17-37016G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50005300 | |||||||
| chrX:50005334 | G | A | 12 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(9): Show |
12 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.17-36982G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50005334 | |||||||
| chrX:50005435 | A | G | 1 | a0001c0001t0004g0137 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.17-36881A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50005435 | |||||||
| chrX:50005448 | GA | G | 12 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(9): Show |
12 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.17-36863delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50005448 | ||||||
| chrX:50006040 | A | G | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-36276A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50006040 | |||||||
| chrX:50006050 | C | T | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-36266C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50006050 | |||||||
| chrX:50006582 | G | A | 1 | a0001c0001t0001g0112 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.17-35734G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50006582 | |||||||
| chrX:50006629 | G | A | 1 | a0001c0001t0001g0118 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.17-35687G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50006629 | |||||||
| chrX:50006772 | C | T | 14 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(11): Show |
14 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.17-35544C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50006772 | |||||||
| chrX:50007276 | G | A | 1 | a0001c0001t0001g0156 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.17-35040G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007276 | |||||||
| chrX:50007395 | CT | C | 3 | a0001c0001t0001g0021 a0001c0001t0001g0155 a0001c0001t0020g0091 |
3 | HG04228.hp1 NA18943.hp1 NA18989.hp1 |
intron_variant | MODIFIER | c.17-34918delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007395 | ||||||
| chrX:50007397 | T | C | 2 | a0001c0001t0001g0085 a0001c0001t0001g0105 |
2 | HG02300.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.17-34919T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007397 | |||||||
| chrX:50007397 | T | TC | 4 | a0001c0001t0001g0066 a0001c0001t0001g0100 a0001c0001t0001g0118 others(1): Show |
4 | HG02071.hp1 HG02074.hp1 NA18995.hp1 others(1): Show |
intron_variant | MODIFIER | c.17-34919_17-34918i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007397 | |||||||
| chrX:50007397 | T | TCTCTCTC | 3 | a0001c0001t0001g0052 a0001c0001t0008g0096 a0001c0001t0015g0141 |
3 | HG01952.hp1 HG03710.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.17-34919_17-34918i others(9): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007397 | |||||||
| chrX:50007397 | T | TTC | 26 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 others(23): Show |
26 | HG00280.hp1 HG00741.hp1 HG01070.hp2 others(23): Show |
intron_variant | MODIFIER | c.17-34879_17-34878d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | ||||||
| chrX:50007397 | T | TTCTC | 10 | a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0127 others(7): Show |
10 | HG00673.hp1 HG00741.hp2 HG01261.hp1 others(7): Show |
intron_variant | MODIFIER | c.17-34881_17-34878d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | ||||||
| chrX:50007397 | T | TTCTCTC | 8 | a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0001g0113 others(5): Show |
8 | HG01099.hp1 HG01358.hp1 HG03490.hp1 others(5): Show |
intron_variant | MODIFIER | c.17-34883_17-34878d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | ||||||
| chrX:50007397 | T | TTCTCTCT others(1): Show |
5 | a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0114 others(2): Show |
5 | HG01433.hp1 HG02015.hp1 NA18984.hp1 others(2): Show |
intron_variant | MODIFIER | c.17-34885_17-34878d others(10): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | ||||||
| chrX:50007397 | T | TTCTCTCT others(3): Show |
4 | a0001c0001t0001g0040 a0001c0001t0001g0108 a0001c0001t0001g0109 others(1): Show |
4 | NA18971.hp1 NA19006.hp1 NA19070.hp1 others(1): Show |
intron_variant | MODIFIER | c.17-34887_17-34878d others(12): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | ||||||
| chrX:50007397 | T | TTCTCTCT others(5): Show |
2 | a0001c0001t0001g0107 a0001c0001t0001g0145 |
2 | HG00621.hp1 NA18940.hp1 |
intron_variant | MODIFIER | c.17-34889_17-34878d others(14): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | ||||||
| chrX:50007397 | T | TTCTCTCT others(7): Show |
1 | a0001c0001t0001g0104 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.17-34891_17-34878d others(16): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | ||||||
| chrX:50007397 | TTC | T | 41 | a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0057 others(38): Show |
41 | HG00140.hp1 HG00642.hp1 HG01074.hp1 others(38): Show |
intron_variant | MODIFIER | c.17-34879_17-34878d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | ||||||
| chrX:50007397 | TTCTC | T | 5 | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0151 others(2): Show |
5 | HG01192.hp1 HG01884.hp2 HG03017.hp1 others(2): Show |
intron_variant | MODIFIER | c.17-34881_17-34878d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | ||||||
| chrX:50007397 | TTCTCTC | T | 15 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(12): Show |
15 | HG01258.hp1 HG01928.hp1 HG01934.hp1 others(12): Show |
intron_variant | MODIFIER | c.17-34883_17-34878d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | ||||||
| chrX:50007397 | TTCTCTCT others(7): Show |
T | 1 | a0001c0001t0001g0033 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.17-34891_17-34878d others(16): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007397 | ||||||
| chrX:50007417 | C | T | 10 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(7): Show |
10 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.17-34899C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007417 | |||||||
| chrX:50007423 | C | T | 22 | a0001c0001t0004g0164 a0001c0001t0010g0019 a0001c0001t0010g0020 others(19): Show |
22 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(19): Show |
intron_variant | MODIFIER | c.17-34893C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007423 | |||||||
| chrX:50007431 | C | G | 1 | a0001c0003t0003g0162 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.17-34885C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007431 | |||||||
| chrX:50007433 | C | G | 10 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(7): Show |
10 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.17-34883C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007433 | |||||||
| chrX:50007434 | T | A | 1 | a0001c0003t0003g0162 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.17-34882T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007434 | |||||||
| chrX:50007435 | CTCTG | C | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-34878_17-34875d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007435 | ||||||
| chrX:50007436 | T | A | 8 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(5): Show |
8 | HG00738.hp1 HG02280.hp1 HG02723.hp1 others(5): Show |
intron_variant | MODIFIER | c.17-34880T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007436 | |||||||
| chrX:50007437 | CTG | C | 7 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(4): Show |
7 | HG00738.hp1 HG02280.hp1 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.17-34877_17-34876d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007437 | ||||||
| chrX:50007438 | T | A | 1 | a0001c0003t0003g0162 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.17-34878T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007438 | |||||||
| chrX:50007439 | G | C | 1 | a0001c0003t0003g0162 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.17-34877G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007439 | |||||||
| chrX:50007440 | T | A | 11 | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(8): Show |
11 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.17-34876T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007440 | |||||||
| chrX:50007440 | T | TCA | 16 | a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0069 others(13): Show |
16 | HG01081.hp1 HG01099.hp1 HG02015.hp1 others(13): Show |
intron_variant | MODIFIER | c.17-34843_17-34842d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007440 | ||||||
| chrX:50007440 | T | TCACA | 2 | a0001c0001t0001g0046 a0001c0001t0001g0073 |
2 | HG02572.hp1 NA19076.hp1 |
intron_variant | MODIFIER | c.17-34845_17-34842d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007440 | ||||||
| chrX:50007440 | T | TCACACAC others(9): Show |
2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-34857_17-34842d others(18): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007440 | ||||||
| chrX:50007440 | TCA | T | 5 | a0001c0001t0001g0056 a0001c0001t0005g0171 a0001c0001t0005g0172 others(2): Show |
5 | HG01070.hp1 HG02723.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.17-34843_17-34842d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007440 | ||||||
| chrX:50007440 | TCACA | T | 2 | a0001c0001t0001g0062 a0001c0001t0001g0082 |
2 | NA19056.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.17-34845_17-34842d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007440 | ||||||
| chrX:50007469 | CACACAG | C | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-34845_17-34840d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007469 | ||||||
| chrX:50007471 | CACAG | C | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-34843_17-34840d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50007471 | ||||||
| chrX:50007475 | G | C | 2 | a0001c0001t0001g0153 a0001c0001t0012g0148 |
2 | HG00280.hp1 NA18988.hp1 |
intron_variant | MODIFIER | c.17-34841G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007475 | |||||||
| chrX:50007761 | C | T | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-34555C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50007761 | |||||||
| chrX:50008088 | C | A | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-34228C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50008088 | |||||||
| chrX:50008161 | C | T | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-34155C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50008161 | |||||||
| chrX:50008195 | G | A | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-34121G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50008195 | |||||||
| chrX:50008340 | T | C | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-33976T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50008340 | |||||||
| chrX:50008699 | T | G | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-33617T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50008699 | |||||||
| chrX:50008959 | C | T | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-33357C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50008959 | |||||||
| chrX:50009278 | A | G | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-33038A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50009278 | |||||||
| chrX:50009612 | C | T | 1 | a0001c0002t0002g0130 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.17-32704C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50009612 | |||||||
| chrX:50009773 | A | G | 2 | a0001c0003t0003g0162 a0001c0003t0003g0163 |
2 | HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.17-32543A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50009773 | |||||||
| chrX:50009781 | G | A | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-32535G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50009781 | |||||||
| chrX:50009931 | G | A | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-32385G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50009931 | |||||||
| chrX:50010743 | A | G | 2 | a0001c0003t0003g0162 a0001c0003t0003g0163 |
2 | HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.17-31573A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50010743 | |||||||
| chrX:50011676 | T | A | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-30640T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50011676 | |||||||
| chrX:50011749 | A | G | 7 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 others(4): Show |
7 | HG00642.hp1 HG01081.hp1 HG01106.hp1 others(4): Show |
intron_variant | MODIFIER | c.17-30567A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50011749 | |||||||
| chrX:50011959 | C | T | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-30357C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50011959 | |||||||
| chrX:50012015 | G | A | 1 | a0001c0002t0002g0130 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.17-30301G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50012015 | |||||||
| chrX:50012439 | A | G | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-29877A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50012439 | |||||||
| chrX:50012643 | C | T | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-29673C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50012643 | |||||||
| chrX:50012940 | A | G | 1 | a0001c0001t0001g0022 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.17-29376A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50012940 | |||||||
| chrX:50013104 | C | T | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-29212C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50013104 | |||||||
| chrX:50013219 | C | G | 1 | a0001c0001t0001g0063 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.17-29097C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50013219 | |||||||
| chrX:50013450 | T | C | 1 | a0001c0001t0001g0097 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.17-28866T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50013450 | |||||||
| chrX:50013471 | G | A | 1 | a0001c0001t0001g0069 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.17-28845G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50013471 | |||||||
| chrX:50013589 | T | A | 2 | a0001c0001t0001g0127 a0001c0001t0001g0128 |
2 | HG00741.hp2 HG01070.hp2 |
intron_variant | MODIFIER | c.17-28727T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50013589 | |||||||
| chrX:50013670 | A | C | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-28646A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50013670 | |||||||
| chrX:50014005 | G | C | 1 | a0001c0001t0004g0164 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.17-28311G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50014005 | |||||||
| chrX:50014626 | G | T | 1 | a0001c0001t0001g0154 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.17-27690G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50014626 | |||||||
| chrX:50015097 | A | G | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-27219A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50015097 | |||||||
| chrX:50015444 | G | C | 1 | a0001c0001t0004g0137 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.17-26872G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50015444 | |||||||
| chrX:50015499 | G | A | 1 | a0001c0001t0004g0137 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.17-26817G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50015499 | |||||||
| chrX:50015649 | C | T | 5 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 others(2): Show |
5 | HG02572.hp1 HG02717.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.17-26667C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50015649 | |||||||
| chrX:50015693 | C | T | 2 | a0001c0002t0002g0011 a0001c0002t0002g0130 |
2 | HG02809.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.17-26623C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50015693 | |||||||
| chrX:50015741 | A | G | 1 | a0001c0001t0001g0102 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.17-26575A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50015741 | |||||||
| chrX:50015751 | C | A | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-26565C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50015751 | |||||||
| chrX:50016019 | T | C | 2 | a0001c0001t0001g0106 a0001c0001t0001g0113 |
2 | NA18984.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.17-26297T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50016019 | |||||||
| chrX:50016435 | C | T | 1 | a0001c0001t0001g0038 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.17-25881C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50016435 | |||||||
| chrX:50016553 | C | A | 1 | a0001c0001t0001g0158 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.17-25763C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50016553 | |||||||
| chrX:50016778 | T | A | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-25538T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50016778 | |||||||
| chrX:50017500 | A | G | 13 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0010g0019 others(10): Show |
13 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.17-24816A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50017500 | |||||||
| chrX:50017683 | A | G | 13 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(10): Show |
13 | HG01192.hp1 HG01258.hp1 HG01928.hp1 others(10): Show |
intron_variant | MODIFIER | c.17-24633A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50017683 | |||||||
| chrX:50017683 | AT | A | 19 | a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0142 others(16): Show |
19 | HG00642.hp1 HG00738.hp1 HG01081.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-24622delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50017683 | ||||||
| chrX:50017722 | C | T | 1 | a0001c0002t0019g0010 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.17-24594C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50017722 | |||||||
| chrX:50017931 | C | T | 1 | a0001c0001t0022g0136 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.17-24385C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50017931 | |||||||
| chrX:50018129 | A | G | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-24187A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50018129 | |||||||
| chrX:50018333 | C | T | 1 | a0001c0002t0002g0130 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.17-23983C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50018333 | |||||||
| chrX:50018433 | C | A | 93 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(90): Show |
93 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(90): Show |
intron_variant | MODIFIER | c.17-23883C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50018433 | |||||||
| chrX:50018654 | T | TATTTTTT others(1684): Show |
1 | a0001c0001t0001g0156 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.17-23660_17-23659i others(1693): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50018654 | ||||||
| chrX:50018698 | T | C | 44 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(41): Show |
44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.17-23618T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50018698 | |||||||
| chrX:50019466 | T | G | 1 | a0001c0001t0001g0118 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.17-22850T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019466 | |||||||
| chrX:50019466 | T | TTTC | 5 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0003t0003g0018 others(2): Show |
5 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.17-22849_17-22848i others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50019466 | ||||||
| chrX:50019467 | T | TTC | 6 | a0001c0001t0022g0136 a0001c0003t0003g0162 a0001c0003t0003g0163 others(3): Show |
6 | HG01884.hp1 HG02486.hp1 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-22849_17-22848i others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019467 | |||||||
| chrX:50019468 | C | T | 20 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0022g0136 others(17): Show |
20 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.17-22848C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019468 | |||||||
| chrX:50019468 | CT | C | 27 | a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 others(24): Show |
27 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(24): Show |
intron_variant | MODIFIER | c.17-22827delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50019468 | ||||||
| chrX:50019469 | T | C | 9 | a0001c0002t0002g0011 a0001c0002t0002g0014 a0001c0002t0002g0015 others(6): Show |
9 | HG02622.hp2 HG02630.hp2 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.17-22847T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019469 | |||||||
| chrX:50019470 | T | C | 1 | a0001c0001t0001g0104 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.17-22846T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019470 | |||||||
| chrX:50019474 | T | A | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-22842T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019474 | |||||||
| chrX:50019484 | T | C | 1 | a0001c0001t0010g0020 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.17-22832T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019484 | |||||||
| chrX:50019489 | T | A | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-22827T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019489 | |||||||
| chrX:50019626 | C | A | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-22690C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019626 | |||||||
| chrX:50019626 | C | T | 1 | a0001c0001t0001g0021 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.17-22690C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019626 | |||||||
| chrX:50019723 | C | T | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-22593C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019723 | |||||||
| chrX:50019775 | A | G | 8 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0022g0136 others(5): Show |
8 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.17-22541A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019775 | |||||||
| chrX:50019782 | C | T | 1 | a0001c0001t0005g0174 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.17-22534C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019782 | |||||||
| chrX:50019788 | C | T | 3 | a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0016 |
3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.17-22528C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019788 | |||||||
| chrX:50019863 | A | G | 1 | a0001c0001t0020g0091 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.17-22453A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019863 | |||||||
| chrX:50019892 | G | C | 1 | a0001c0001t0001g0043 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.17-22424G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019892 | |||||||
| chrX:50019930 | A | G | 2 | a0001c0001t0001g0030 a0001c0001t0001g0126 |
2 | HG02451.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.17-22386A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50019930 | |||||||
| chrX:50020101 | A | C | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-22215A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020101 | |||||||
| chrX:50020121 | G | A | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-22195G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020121 | |||||||
| chrX:50020157 | A | C | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-22159A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020157 | |||||||
| chrX:50020244 | C | T | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-22072C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020244 | |||||||
| chrX:50020248 | A | G | 18 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(15): Show |
18 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(15): Show |
intron_variant | MODIFIER | c.17-22068A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020248 | |||||||
| chrX:50020304 | C | T | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-22012C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020304 | |||||||
| chrX:50020305 | A | G | 45 | a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0125 others(42): Show |
45 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.17-22011A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020305 | |||||||
| chrX:50020320 | G | T | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-21996G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020320 | |||||||
| chrX:50020443 | A | T | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-21873A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020443 | |||||||
| chrX:50020506 | T | G | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-21810T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020506 | |||||||
| chrX:50020551 | C | T | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-21765C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020551 | |||||||
| chrX:50020555 | C | T | 23 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(20): Show |
23 | HG00741.hp2 HG01070.hp2 HG01167.hp1 others(20): Show |
intron_variant | MODIFIER | c.17-21761C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020555 | |||||||
| chrX:50020666 | G | A | 1 | a0001c0001t0001g0131 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.17-21650G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020666 | |||||||
| chrX:50020676 | C | G | 1 | a0001c0001t0015g0141 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.17-21640C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020676 | |||||||
| chrX:50020960 | A | G | 6 | a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0001g0116 others(3): Show |
6 | HG01884.hp2 HG02071.hp1 NA18943.hp1 others(3): Show |
intron_variant | MODIFIER | c.17-21356A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020960 | |||||||
| chrX:50020966 | T | C | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-21350T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020966 | |||||||
| chrX:50020988 | T | G | 1 | a0001c0001t0001g0056 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.17-21328T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50020988 | |||||||
| chrX:50021138 | A | G | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-21178A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50021138 | |||||||
| chrX:50021139 | T | C | 1 | a0001c0001t0015g0141 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.17-21177T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50021139 | |||||||
| chrX:50021148 | C | A | 44 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(41): Show |
44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.17-21168C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50021148 | |||||||
| chrX:50021215 | C | CTAGG | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-21099_17-21098i others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50021215 | ||||||
| chrX:50021242 | G | C | 1 | a0001c0008t0003g0005 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.17-21074G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50021242 | |||||||
| chrX:50021383 | A | C | 97 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(94): Show |
97 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(94): Show |
intron_variant | MODIFIER | c.17-20933A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50021383 | |||||||
| chrX:50021384 | A | G | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-20932A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50021384 | |||||||
| chrX:50021488 | C | G | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-20828C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50021488 | |||||||
| chrX:50021640 | A | C | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-20676A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50021640 | |||||||
| chrX:50021654 | A | G | 1 | a0001c0001t0001g0076 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.17-20662A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50021654 | |||||||
| chrX:50021959 | C | T | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-20357C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50021959 | |||||||
| chrX:50022077 | T | G | 14 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0011 others(11): Show |
14 | HG01167.hp1 HG01255.hp1 HG02622.hp2 others(11): Show |
intron_variant | MODIFIER | c.17-20239T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022077 | |||||||
| chrX:50022261 | C | T | 2 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | HG00642.hp1 HG01081.hp1 |
intron_variant | MODIFIER | c.17-20055C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022261 | |||||||
| chrX:50022306 | G | T | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-20010G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022306 | |||||||
| chrX:50022313 | G | A | 3 | a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0016g0124 |
3 | HG01358.hp1 HG02698.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.17-20003G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022313 | |||||||
| chrX:50022359 | TTCTC | T | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-19953_17-19950d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50022359 | ||||||
| chrX:50022373 | C | T | 1 | a0001c0001t0001g0113 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.17-19943C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022373 | |||||||
| chrX:50022374 | T | C | 1 | a0001c0001t0001g0113 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.17-19942T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022374 | |||||||
| chrX:50022388 | T | TAGCGGTC others(287): Show |
1 | a0001c0003t0003g0166 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.17-19911_17-19910i others(296): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50022388 | ||||||
| chrX:50022388 | T | TAGCGGTC others(288): Show |
1 | a0001c0003t0003g0165 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.17-19911_17-19910i others(297): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50022388 | ||||||
| chrX:50022388 | T | TAGCGGTC others(288): Show |
1 | a0001c0003t0003g0167 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.17-19911_17-19910i others(297): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50022388 | ||||||
| chrX:50022388 | T | TAGCGGTC others(290): Show |
7 | a0001c0001t0004g0137 a0001c0001t0010g0019 a0001c0001t0010g0020 others(4): Show |
7 | HG02622.hp1 HG02922.hp2 HG03195.hp2 others(4): Show |
intron_variant | MODIFIER | c.17-19911_17-19910i others(299): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50022388 | ||||||
| chrX:50022388 | T | TAGCGGTC others(291): Show |
3 | a0001c0001t0001g0125 a0001c0003t0003g0169 a0001c0003t0003g0175 |
3 | HG00738.hp1 HG02280.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.17-19911_17-19910i others(300): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50022388 | ||||||
| chrX:50022454 | G | T | 8 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0022g0136 others(5): Show |
8 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.17-19862G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022454 | |||||||
| chrX:50022651 | C | T | 1 | a0001c0001t0001g0092 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.17-19665C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022651 | |||||||
| chrX:50022688 | T | G | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-19628T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022688 | |||||||
| chrX:50022861 | T | C | 1 | a0001c0001t0001g0047 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.17-19455T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022861 | |||||||
| chrX:50022899 | G | A | 32 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(29): Show |
32 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(29): Show |
intron_variant | MODIFIER | c.17-19417G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022899 | |||||||
| chrX:50022904 | G | A | 1 | a0001c0001t0001g0133 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.17-19412G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022904 | |||||||
| chrX:50022931 | T | G | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-19385T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022931 | |||||||
| chrX:50022971 | G | A | 1 | a0001c0001t0001g0069 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.17-19345G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022971 | |||||||
| chrX:50022977 | T | C | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-19339T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022977 | |||||||
| chrX:50022994 | T | C | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-19322T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50022994 | |||||||
| chrX:50023039 | T | G | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-19277T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023039 | |||||||
| chrX:50023046 | T | C | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-19270T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023046 | |||||||
| chrX:50023110 | CT | C | 32 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(29): Show |
32 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(29): Show |
intron_variant | MODIFIER | c.17-19204delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50023110 | ||||||
| chrX:50023325 | G | T | 9 | a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0055 others(6): Show |
9 | HG01243.hp1 HG01884.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.17-18991G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023325 | |||||||
| chrX:50023459 | C | G | 1 | a0001c0001t0001g0075 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.17-18857C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023459 | |||||||
| chrX:50023531 | T | C | 44 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(41): Show |
44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.17-18785T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023531 | |||||||
| chrX:50023536 | T | G | 44 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(41): Show |
44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.17-18780T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023536 | |||||||
| chrX:50023559 | G | C | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-18757G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023559 | |||||||
| chrX:50023608 | G | A | 1 | a0001c0004t0001g0051 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.17-18708G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023608 | |||||||
| chrX:50023729 | C | T | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-18587C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023729 | |||||||
| chrX:50023838 | C | G | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-18478C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023838 | |||||||
| chrX:50023847 | C | T | 1 | a0001c0001t0022g0136 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.17-18469C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023847 | |||||||
| chrX:50023981 | G | A | 13 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0010g0019 others(10): Show |
13 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.17-18335G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023981 | |||||||
| chrX:50023992 | G | A | 1 | a0001c0001t0001g0133 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.17-18324G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50023992 | |||||||
| chrX:50024236 | C | G | 1 | a0001c0002t0019g0010 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.17-18080C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024236 | |||||||
| chrX:50024278 | C | T | 31 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(28): Show |
31 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(28): Show |
intron_variant | MODIFIER | c.17-18038C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024278 | |||||||
| chrX:50024392 | T | C | 32 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(29): Show |
32 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(29): Show |
intron_variant | MODIFIER | c.17-17924T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024392 | |||||||
| chrX:50024510 | C | T | 30 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(27): Show |
30 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(27): Show |
intron_variant | MODIFIER | c.17-17806C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024510 | |||||||
| chrX:50024511 | A | G | 30 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(27): Show |
30 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(27): Show |
intron_variant | MODIFIER | c.17-17805A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024511 | |||||||
| chrX:50024552 | G | A | 50 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(47): Show |
50 | HG00140.hp1 HG00609.hp1 HG00741.hp1 others(47): Show |
intron_variant | MODIFIER | c.17-17764G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024552 | |||||||
| chrX:50024563 | C | T | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-17753C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024563 | |||||||
| chrX:50024641 | G | T | 1 | a0001c0001t0001g0049 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.17-17675G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024641 | |||||||
| chrX:50024656 | C | T | 4 | a0001c0001t0001g0041 a0001c0001t0004g0164 a0001c0002t0009g0013 others(1): Show |
4 | HG02451.hp1 HG02630.hp2 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.17-17660C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024656 | |||||||
| chrX:50024662 | A | G | 5 | a0001c0001t0001g0041 a0001c0001t0004g0164 a0001c0002t0009g0013 others(2): Show |
5 | HG01255.hp1 HG02451.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.17-17654A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024662 | |||||||
| chrX:50024676 | G | T | 3 | a0001c0001t0001g0041 a0001c0002t0009g0013 a0001c0002t0009g0017 |
3 | HG02451.hp1 HG02630.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.17-17640G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024676 | |||||||
| chrX:50024785 | C | G | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-17531C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024785 | |||||||
| chrX:50024873 | G | T | 169 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(166): Show |
169 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(166): Show |
intron_variant | MODIFIER | c.17-17443G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024873 | |||||||
| chrX:50024882 | A | G | 1 | a0001c0001t0001g0022 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.17-17434A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024882 | |||||||
| chrX:50024896 | G | A | 4 | a0001c0001t0001g0078 a0001c0001t0001g0119 a0001c0001t0008g0079 others(1): Show |
4 | HG01099.hp1 HG01433.hp1 HG01952.hp1 others(1): Show |
intron_variant | MODIFIER | c.17-17420G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024896 | |||||||
| chrX:50024938 | C | G | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-17378C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50024938 | |||||||
| chrX:50025013 | C | T | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.17-17303C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025013 | |||||||
| chrX:50025022 | T | C | 28 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(25): Show |
28 | HG00280.hp1 HG01167.hp1 HG01192.hp1 others(25): Show |
intron_variant | MODIFIER | c.17-17294T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025022 | |||||||
| chrX:50025023 | G | A | 1 | a0001c0001t0012g0148 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.17-17293G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025023 | |||||||
| chrX:50025023 | G | C | 26 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(23): Show |
26 | HG01167.hp1 HG01192.hp1 HG01258.hp1 others(23): Show |
intron_variant | MODIFIER | c.17-17293G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025023 | |||||||
| chrX:50025082 | T | C | 3 | a0001c0001t0001g0080 a0001c0001t0012g0148 a0001c0001t0022g0136 |
3 | HG00280.hp1 HG02602.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.17-17234T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025082 | |||||||
| chrX:50025127 | C | T | 3 | a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0016 |
3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.17-17189C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025127 | |||||||
| chrX:50025136 | G | A | 1 | a0001c0003t0003g0163 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.17-17180G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025136 | |||||||
| chrX:50025142 | G | A | 1 | a0001c0002t0002g0011 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.17-17174G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025142 | |||||||
| chrX:50025153 | T | C | 1 | a0001c0003t0003g0163 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.17-17163T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025153 | |||||||
| chrX:50025154 | G | A | 1 | a0001c0003t0003g0163 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.17-17162G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025154 | |||||||
| chrX:50025200 | G | A | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-17116G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025200 | |||||||
| chrX:50025344 | C | T | 1 | a0001c0001t0001g0129 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.17-16972C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025344 | |||||||
| chrX:50025445 | C | G | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-16871C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025445 | |||||||
| chrX:50025648 | TCTTA | T | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-16661_17-16658d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50025648 | ||||||
| chrX:50025711 | C | T | 1 | a0001c0001t0001g0049 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.17-16605C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025711 | |||||||
| chrX:50025721 | G | GA | 2 | a0001c0001t0001g0152 a0001c0001t0001g0155 |
2 | HG03492.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.17-16595_17-16594i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025721 | |||||||
| chrX:50025955 | C | T | 1 | a0001c0001t0015g0141 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.17-16361C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50025955 | |||||||
| chrX:50026034 | C | G | 1 | a0001c0001t0001g0077 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.17-16282C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50026034 | |||||||
| chrX:50026161 | A | G | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-16155A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50026161 | |||||||
| chrX:50026196 | A | C | 171 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(168): Show |
171 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(168): Show |
intron_variant | MODIFIER | c.17-16120A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50026196 | |||||||
| chrX:50026284 | T | C | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-16032T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50026284 | |||||||
| chrX:50026385 | G | A | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-15931G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50026385 | |||||||
| chrX:50026414 | G | A | 32 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(29): Show |
32 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(29): Show |
intron_variant | MODIFIER | c.17-15902G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50026414 | |||||||
| chrX:50026489 | G | C | 1 | a0001c0001t0001g0025 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.17-15827G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50026489 | |||||||
| chrX:50026945 | T | C | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-15371T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50026945 | |||||||
| chrX:50027017 | C | CT | 9 | a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0058 others(6): Show |
9 | HG00140.hp1 HG01255.hp1 HG01261.hp1 others(6): Show |
intron_variant | MODIFIER | c.17-15284dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50027017 | ||||||
| chrX:50027017 | CT | C | 5 | a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0067 others(2): Show |
5 | HG01070.hp1 HG04204.hp1 HG06807.hp1 others(2): Show |
intron_variant | MODIFIER | c.17-15284delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50027017 | ||||||
| chrX:50027020 | T | TC | 10 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 others(7): Show |
10 | HG00738.hp1 HG02280.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.17-15296_17-15295i others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50027020 | |||||||
| chrX:50027043 | C | G | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-15273C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50027043 | |||||||
| chrX:50027048 | CCTGTTGC others(19): Show |
C | 8 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0022g0136 others(5): Show |
8 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.17-15265_17-15240d others(28): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50027048 | ||||||
| chrX:50027250 | G | A | 21 | a0001c0001t0004g0164 a0001c0001t0010g0019 a0001c0001t0010g0020 others(18): Show |
21 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(18): Show |
intron_variant | MODIFIER | c.17-15066G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50027250 | |||||||
| chrX:50027489 | A | G | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-14827A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50027489 | |||||||
| chrX:50027600 | T | G | 13 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0010g0019 others(10): Show |
13 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(10): Show |
intron_variant | MODIFIER | c.17-14716T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50027600 | |||||||
| chrX:50027656 | G | A | 44 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(41): Show |
44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.17-14660G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50027656 | |||||||
| chrX:50027724 | G | GT | 41 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0030 others(38): Show |
41 | HG00738.hp1 HG00741.hp1 HG00741.hp2 others(38): Show |
intron_variant | MODIFIER | c.17-14577dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50027724 | ||||||
| chrX:50027724 | G | GTT | 7 | a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0002t0009g0013 others(4): Show |
7 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.17-14578_17-14577d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50027724 | ||||||
| chrX:50028090 | T | A | 1 | a0001c0002t0009g0013 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.17-14226T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50028090 | |||||||
| chrX:50028372 | T | C | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-13944T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50028372 | |||||||
| chrX:50028523 | C | A | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-13793C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50028523 | |||||||
| chrX:50029253 | T | G | 1 | a0001c0001t0001g0077 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.17-13063T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50029253 | |||||||
| chrX:50029301 | C | G | 1 | a0001c0001t0001g0101 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.17-13015C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50029301 | |||||||
| chrX:50029337 | G | A | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-12979G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50029337 | |||||||
| chrX:50029387 | G | A | 6 | a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0055 others(3): Show |
6 | HG01243.hp1 HG02647.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.17-12929G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50029387 | |||||||
| chrX:50029848 | A | C | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-12468A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50029848 | |||||||
| chrX:50030245 | C | T | 1 | a0001c0001t0001g0101 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.17-12071C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50030245 | |||||||
| chrX:50030407 | C | A | 1 | a0001c0001t0001g0118 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.17-11909C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50030407 | |||||||
| chrX:50030413 | T | A | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.17-11903T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50030413 | |||||||
| chrX:50030458 | T | C | 1 | a0001c0002t0002g0015 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.17-11858T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50030458 | |||||||
| chrX:50030507 | A | G | 1 | a0001c0001t0001g0041 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.17-11809A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50030507 | |||||||
| chrX:50030532 | C | T | 1 | a0001c0001t0001g0041 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.17-11784C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50030532 | |||||||
| chrX:50030564 | G | A | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.17-11752G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50030564 | |||||||
| chrX:50030734 | A | G | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-11582A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50030734 | |||||||
| chrX:50031183 | A | G | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-11133A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50031183 | |||||||
| chrX:50031463 | G | C | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-10853G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50031463 | |||||||
| chrX:50031473 | TA | T | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-10842delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50031473 | |||||||
| chrX:50031868 | C | A | 1 | a0001c0001t0001g0120 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.17-10448C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50031868 | |||||||
| chrX:50031981 | G | C | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-10335G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50031981 | |||||||
| chrX:50032196 | T | G | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-10120T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032196 | |||||||
| chrX:50032269 | G | A | 1 | a0001c0001t0001g0149 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.17-10047G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032269 | |||||||
| chrX:50032324 | A | C | 8 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0022g0136 others(5): Show |
8 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.17-9992A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032324 | |||||||
| chrX:50032399 | A | C | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-9917A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032399 | |||||||
| chrX:50032483 | T | C | 1 | a0001c0001t0001g0132 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.17-9833T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032483 | |||||||
| chrX:50032546 | T | C | 21 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(18): Show |
21 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(18): Show |
intron_variant | MODIFIER | c.17-9770T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032546 | |||||||
| chrX:50032593 | T | G | 1 | a0001c0001t0001g0156 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.17-9723T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032593 | |||||||
| chrX:50032597 | T | C | 1 | a0001c0001t0001g0156 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.17-9719T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032597 | |||||||
| chrX:50032606 | C | G | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-9710C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032606 | |||||||
| chrX:50032614 | A | C | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-9702A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032614 | |||||||
| chrX:50032707 | G | A | 12 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(9): Show |
12 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.17-9609G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032707 | |||||||
| chrX:50032777 | G | A | 32 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(29): Show |
32 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(29): Show |
intron_variant | MODIFIER | c.17-9539G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032777 | |||||||
| chrX:50032861 | G | A | 1 | a0001c0001t0001g0060 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.17-9455G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032861 | |||||||
| chrX:50032863 | T | G | 1 | a0001c0001t0001g0060 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.17-9453T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032863 | |||||||
| chrX:50032913 | A | G | 1 | a0001c0002t0002g0011 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.17-9403A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50032913 | |||||||
| chrX:50033354 | A | G | 1 | a0001c0001t0001g0077 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.17-8962A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50033354 | |||||||
| chrX:50033377 | GACAA | G | 6 | a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0055 others(3): Show |
6 | HG01243.hp1 HG02647.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.17-8935_17-8932del others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50033377 | ||||||
| chrX:50033545 | C | T | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-8771C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50033545 | |||||||
| chrX:50033594 | C | G | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.17-8722C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50033594 | |||||||
| chrX:50033605 | A | G | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-8711A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50033605 | |||||||
| chrX:50033609 | G | A | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-8707G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50033609 | |||||||
| chrX:50033668 | C | G | 14 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(11): Show |
14 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.17-8648C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50033668 | |||||||
| chrX:50034050 | G | C | 1 | a0001c0001t0012g0148 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.17-8266G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50034050 | |||||||
| chrX:50034301 | T | C | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-8015T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50034301 | |||||||
| chrX:50034457 | T | C | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-7859T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50034457 | |||||||
| chrX:50034758 | C | T | 1 | a0001c0001t0001g0041 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.17-7558C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50034758 | |||||||
| chrX:50034990 | A | C | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-7326A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50034990 | |||||||
| chrX:50035399 | A | T | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.17-6917A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50035399 | |||||||
| chrX:50036207 | ATTC | A | 44 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(41): Show |
44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.17-6104_17-6102del others(3): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | 50036207 | ||||||
| chrX:50036820 | T | C | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.17-5496T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50036820 | |||||||
| chrX:50036956 | G | A | 44 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(41): Show |
44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.17-5360G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50036956 | |||||||
| chrX:50037019 | T | A | 1 | a0001c0001t0001g0129 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.17-5297T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50037019 | |||||||
| chrX:50037252 | G | A | 44 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(41): Show |
44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.17-5064G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50037252 | |||||||
| chrX:50037939 | A | T | 44 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(41): Show |
44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.17-4377A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50037939 | |||||||
| chrX:50037941 | A | G | 1 | a0001c0001t0022g0136 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.17-4375A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50037941 | |||||||
| chrX:50038375 | T | C | 1 | a0001c0001t0001g0103 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.17-3941T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50038375 | |||||||
| chrX:50038980 | C | A | 1 | a0001c0001t0001g0107 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.17-3336C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50038980 | |||||||
| chrX:50038982 | A | G | 1 | a0001c0001t0001g0089 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.17-3334A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50038982 | |||||||
| chrX:50039017 | G | A | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-3299G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50039017 | |||||||
| chrX:50039184 | C | T | 4 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0112 others(1): Show |
4 | HG00621.hp1 NA18944.hp1 NA18984.hp1 others(1): Show |
intron_variant | MODIFIER | c.17-3132C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50039184 | |||||||
| chrX:50039306 | C | A | 44 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(41): Show |
44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.17-3010C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50039306 | |||||||
| chrX:50039542 | A | G | 4 | a0001c0001t0001g0045 a0001c0001t0001g0066 a0001c0001t0001g0067 others(1): Show |
4 | NA18960.hp1 NA19007.hp1 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.17-2774A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50039542 | |||||||
| chrX:50039715 | T | C | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-2601T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50039715 | |||||||
| chrX:50039785 | C | T | 14 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(11): Show |
14 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.17-2531C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50039785 | |||||||
| chrX:50039881 | C | T | 1 | a0001c0001t0020g0091 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.17-2435C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50039881 | |||||||
| chrX:50039986 | C | G | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-2330C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50039986 | |||||||
| chrX:50040576 | T | G | 1 | a0001c0001t0001g0090 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.17-1740T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50040576 | |||||||
| chrX:50040599 | C | T | 1 | a0001c0001t0001g0156 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.17-1717C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50040599 | |||||||
| chrX:50040720 | A | C | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-1596A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50040720 | |||||||
| chrX:50040852 | C | T | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.17-1464C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50040852 | |||||||
| chrX:50041297 | A | G | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.17-1019A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50041297 | |||||||
| chrX:50041572 | A | G | 1 | a0001c0001t0001g0149 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.17-744A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50041572 | |||||||
| chrX:50041629 | T | G | 19 | a0001c0001t0004g0164 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG01255.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.17-687T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50041629 | |||||||
| chrX:50042261 | G | A | 2 | a0001c0003t0003g0018 a0001c0003t0003g0169 |
2 | HG02280.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.17-55G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | 50042261 | |||||||
| chrX:50043141 | C | T | 14 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(11): Show |
14 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.163+679C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50043141 | |||||||
| chrX:50043570 | G | A | 32 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(29): Show |
32 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(29): Show |
intron_variant | MODIFIER | c.163+1108G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50043570 | |||||||
| chrX:50044224 | C | A | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.163+1762C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50044224 | |||||||
| chrX:50044312 | C | G | 1 | a0001c0001t0001g0081 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.163+1850C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50044312 | |||||||
| chrX:50044425 | A | G | 3 | a0001c0001t0004g0137 a0001c0003t0003g0162 a0001c0003t0003g0163 |
3 | HG03195.hp2 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.163+1963A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50044425 | |||||||
| chrX:50044693 | G | C | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.163+2231G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50044693 | |||||||
| chrX:50045862 | CT | C | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.163+3401delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50045862 | |||||||
| chrX:50046082 | C | T | 1 | a0001c0001t0001g0131 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.163+3620C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50046082 | |||||||
| chrX:50046536 | G | T | 1 | a0001c0001t0015g0141 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.163+4074G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50046536 | |||||||
| chrX:50047100 | A | T | 1 | a0001c0001t0012g0148 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.163+4638A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50047100 | |||||||
| chrX:50047350 | T | C | 8 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0022g0136 others(5): Show |
8 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.163+4888T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50047350 | |||||||
| chrX:50047648 | T | C | 1 | a0001c0001t0001g0125 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.163+5186T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50047648 | |||||||
| chrX:50047776 | T | C | 5 | a0001c0001t0001g0089 a0001c0001t0001g0144 a0001c0001t0001g0150 others(2): Show |
5 | HG02735.hp1 HG03490.hp1 HG03492.hp1 others(2): Show |
intron_variant | MODIFIER | c.163+5314T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50047776 | |||||||
| chrX:50047802 | A | T | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.163+5340A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50047802 | |||||||
| chrX:50047833 | G | A | 1 | a0001c0001t0001g0118 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.163+5371G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50047833 | |||||||
| chrX:50048012 | G | A | 1 | a0001c0001t0001g0145 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.163+5550G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50048012 | |||||||
| chrX:50048092 | C | T | 1 | a0001c0001t0001g0131 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.163+5630C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50048092 | |||||||
| chrX:50048311 | C | T | 1 | a0001c0001t0001g0022 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.163+5849C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50048311 | |||||||
| chrX:50048357 | C | T | 11 | a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0054 others(8): Show |
11 | HG01099.hp1 HG01243.hp1 HG01433.hp1 others(8): Show |
intron_variant | MODIFIER | c.163+5895C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50048357 | |||||||
| chrX:50048393 | A | C | 5 | a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0003t0003g0165 others(2): Show |
5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.163+5931A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50048393 | |||||||
| chrX:50049291 | A | G | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.163+6829A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50049291 | |||||||
| chrX:50050225 | G | T | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.163+7763G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50050225 | |||||||
| chrX:50050364 | G | GTTTGCAT others(19): Show |
1 | a0001c0001t0001g0151 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.163+7905_163+7930d others(28): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50050364 | ||||||
| chrX:50050462 | A | G | 6 | a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 others(3): Show |
6 | NA18974.hp1 NA19006.hp1 NA19070.hp1 others(3): Show |
intron_variant | MODIFIER | c.163+8000A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50050462 | |||||||
| chrX:50050487 | C | G | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.163+8025C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50050487 | |||||||
| chrX:50050516 | T | G | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.163+8054T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50050516 | |||||||
| chrX:50050527 | T | A | 1 | a0001c0001t0008g0096 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.163+8065T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50050527 | |||||||
| chrX:50050657 | C | CT | 33 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0065 others(30): Show |
33 | HG00280.hp1 HG00738.hp1 HG01167.hp1 others(30): Show |
intron_variant | MODIFIER | c.163+8215dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50050657 | ||||||
| chrX:50050657 | C | CTT | 6 | a0001c0002t0002g0004 a0001c0002t0002g0009 a0001c0002t0004g0002 others(3): Show |
6 | HG01255.hp1 HG02145.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.163+8214_163+8215d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50050657 | ||||||
| chrX:50050657 | CT | C | 14 | a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0104 others(11): Show |
14 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(11): Show |
intron_variant | MODIFIER | c.163+8215delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50050657 | ||||||
| chrX:50050723 | C | G | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.163+8261C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50050723 | |||||||
| chrX:50050884 | C | G | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.163+8422C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50050884 | |||||||
| chrX:50050951 | T | C | 1 | a0001c0001t0001g0069 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.163+8489T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50050951 | |||||||
| chrX:50050957 | T | C | 1 | a0001c0001t0001g0069 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.163+8495T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50050957 | |||||||
| chrX:50051431 | G | C | 1 | a0001c0001t0004g0164 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.163+8969G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50051431 | |||||||
| chrX:50051506 | T | C | 1 | a0001c0001t0001g0157 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.163+9044T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50051506 | |||||||
| chrX:50051703 | G | A | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.163+9241G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50051703 | |||||||
| chrX:50052199 | T | G | 2 | a0001c0001t0001g0045 a0001c0001t0001g0066 |
2 | NA18960.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.163+9737T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50052199 | |||||||
| chrX:50052237 | T | A | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.163+9775T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50052237 | |||||||
| chrX:50052475 | C | T | 14 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(11): Show |
14 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.163+10013C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50052475 | |||||||
| chrX:50052765 | T | C | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.163+10303T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50052765 | |||||||
| chrX:50053295 | C | T | 1 | a0001c0001t0001g0080 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.163+10833C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50053295 | |||||||
| chrX:50053651 | A | T | 1 | a0001c0001t0001g0069 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.163+11189A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50053651 | |||||||
| chrX:50054395 | A | G | 1 | a0001c0001t0001g0102 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.163+11933A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50054395 | |||||||
| chrX:50054552 | C | CA | 8 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0022g0136 others(5): Show |
8 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.163+12091dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50054552 | ||||||
| chrX:50054557 | C | T | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.163+12095C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50054557 | |||||||
| chrX:50055051 | G | A | 1 | a0001c0001t0018g0117 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.163+12589G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50055051 | |||||||
| chrX:50055074 | A | G | 1 | a0001c0002t0019g0010 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.163+12612A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50055074 | |||||||
| chrX:50055815 | A | G | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.163+13353A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50055815 | |||||||
| chrX:50055884 | C | T | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.163+13422C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50055884 | |||||||
| chrX:50055943 | CTGGGTTT others(45): Show |
C | 1 | a0001c0001t0001g0072 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.163+13484_163+1353 others(56): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50055943 | ||||||
| chrX:50056019 | TTAAG | T | 9 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(6): Show |
9 | HG01192.hp1 HG01258.hp1 HG01928.hp1 others(6): Show |
intron_variant | MODIFIER | c.163+13561_163+1356 others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50056019 | ||||||
| chrX:50056208 | C | T | 44 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(41): Show |
44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.164-13671C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50056208 | |||||||
| chrX:50056244 | GAAGAACT others(20): Show |
G | 1 | a0001c0001t0001g0114 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.164-13633_164-1360 others(31): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50056244 | ||||||
| chrX:50056814 | T | TCCCTATG others(19): Show |
1 | a0001c0001t0001g0045 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.164-13063_164-1303 others(30): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50056814 | ||||||
| chrX:50056849 | T | A | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-13030T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50056849 | |||||||
| chrX:50056935 | C | G | 1 | a0001c0001t0001g0073 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.164-12944C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50056935 | |||||||
| chrX:50057068 | T | A | 2 | a0001c0003t0003g0018 a0001c0003t0003g0169 |
2 | HG02280.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.164-12811T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057068 | |||||||
| chrX:50057374 | G | GGTCCTGG others(227): Show |
1 | a0001c0003t0003g0018 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.164-12479_164-1247 others(238): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057374 | ||||||
| chrX:50057375 | G | GTCCTGGA others(903): Show |
4 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(1): Show |
4 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.164-12493_164-1249 others(914): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1033): Show |
1 | a0001c0007t0001g0029 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.164-12493_164-1249 others(1044): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1163): Show |
1 | a0001c0001t0001g0129 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.164-12493_164-1249 others(1174): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2255): Show |
1 | a0001c0001t0001g0145 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.164-12449_164-1244 others(2266): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(617): Show |
1 | a0001c0001t0001g0085 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(628): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(799): Show |
1 | a0001c0001t0001g0168 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(810): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(825): Show |
1 | a0001c0001t0004g0164 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(836): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(851): Show |
1 | a0001c0001t0001g0062 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.164-12182_164-1218 others(862): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(877): Show |
1 | a0001c0001t0001g0022 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(888): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(981): Show |
1 | a0001c0001t0001g0154 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(992): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1059): Show |
1 | a0001c0001t0001g0033 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1070): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1137): Show |
1 | a0001c0001t0001g0026 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1148): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1267): Show |
1 | a0001c0001t0001g0077 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1278): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1345): Show |
4 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0053 others(1): Show |
4 | HG01943.hp1 HG02056.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.164-12182_164-1218 others(1356): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1423): Show |
1 | a0001c0001t0001g0099 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1434): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1449): Show |
1 | a0001c0001t0001g0032 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1460): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1527): Show |
1 | a0001c0002t0002g0011 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1538): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1553): Show |
2 | a0001c0001t0001g0049 a0001c0001t0011g0039 |
2 | HG01192.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(1564): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1579): Show |
1 | a0001c0001t0001g0082 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1590): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1605): Show |
1 | a0001c0002t0004g0016 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1616): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1631): Show |
1 | a0001c0001t0001g0031 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1642): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1683): Show |
1 | a0001c0001t0001g0041 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1694): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1709): Show |
1 | a0001c0002t0002g0015 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1720): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1735): Show |
1 | a0001c0001t0001g0103 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1746): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1761): Show |
2 | a0001c0001t0001g0156 a0001c0001t0001g0157 |
2 | NA18967.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(1772): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1787): Show |
3 | a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0121 |
3 | HG01106.hp1 HG02895.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(1798): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1813): Show |
1 | a0001c0001t0001g0146 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1824): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1865): Show |
1 | a0001c0002t0002g0004 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1876): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1917): Show |
1 | a0001c0001t0001g0159 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1928): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1943): Show |
1 | a0001c0001t0001g0075 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1954): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1969): Show |
2 | a0001c0001t0001g0160 a0001c0002t0002g0006 |
2 | NA18522.hp1 NA18970.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(1980): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1995): Show |
1 | a0001c0001t0018g0117 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2006): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2047): Show |
2 | a0001c0001t0001g0034 a0001c0001t0001g0038 |
2 | HG03688.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2058): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2125): Show |
1 | a0001c0001t0001g0073 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2136): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2151): Show |
3 | a0001c0001t0005g0173 a0001c0002t0002g0014 a0001c0002t0009g0013 |
3 | HG02630.hp2 HG02970.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2162): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2203): Show |
2 | a0001c0001t0001g0161 a0001c0006t0002g0138 |
2 | HG00673.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2214): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2229): Show |
3 | a0001c0001t0001g0027 a0001c0002t0002g0009 a0001c0002t0009g0017 |
3 | HG01934.hp1 HG02145.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2240): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2255): Show |
5 | a0001c0001t0001g0024 a0001c0001t0001g0055 a0001c0001t0005g0170 others(2): Show |
5 | HG01081.hp2 HG01243.hp1 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2266): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2307): Show |
1 | a0001c0008t0003g0005 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2318): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2411): Show |
2 | a0001c0001t0005g0171 a0001c0002t0002g0012 |
2 | NA20129.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2422): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2437): Show |
2 | a0001c0001t0001g0119 a0001c0002t0002g0007 |
2 | HG02615.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2448): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2489): Show |
1 | a0001c0001t0001g0023 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2500): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2515): Show |
1 | a0001c0001t0001g0158 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2526): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2541): Show |
2 | a0001c0001t0005g0174 a0001c0002t0004g0003 |
2 | HG02965.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2552): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2619): Show |
1 | a0001c0001t0001g0150 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2630): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2645): Show |
3 | a0001c0001t0001g0093 a0001c0001t0001g0110 a0001c0001t0001g0153 |
3 | NA18612.hp1 NA18988.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2656): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2697): Show |
1 | a0001c0001t0001g0118 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2708): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2723): Show |
3 | a0001c0001t0001g0069 a0001c0001t0001g0088 a0001c0001t0001g0098 |
3 | HG00741.hp1 HG02040.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2734): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2749): Show |
1 | a0001c0001t0001g0025 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2760): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2801): Show |
1 | a0001c0001t0001g0090 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2812): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2827): Show |
1 | a0001c0001t0001g0109 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2838): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2853): Show |
1 | a0001c0001t0006g0139 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2864): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2879): Show |
2 | a0001c0001t0001g0115 a0001c0002t0004g0002 |
2 | NA18990.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2890): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2905): Show |
3 | a0001c0001t0001g0063 a0001c0001t0001g0104 a0001c0001t0001g0107 |
3 | HG00621.hp1 NA18974.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2916): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2931): Show |
3 | a0001c0001t0001g0060 a0001c0001t0001g0112 a0001c0001t0006g0140 |
3 | NA18944.hp1 NA18986.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2942): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2983): Show |
2 | a0001c0001t0001g0080 a0001c0001t0001g0108 |
2 | HG02602.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(2994): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3035): Show |
1 | a0001c0001t0001g0111 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3046): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3113): Show |
2 | a0001c0001t0001g0050 a0001c0001t0001g0113 |
2 | NA18952.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3124): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3139): Show |
1 | a0001c0001t0001g0123 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3150): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3165): Show |
1 | a0001c0001t0007g0087 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3176): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3217): Show |
1 | a0001c0001t0008g0079 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3228): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3243): Show |
4 | a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0106 others(1): Show |
4 | HG02735.hp1 NA18943.hp1 NA18984.hp1 others(1): Show |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3254): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3269): Show |
2 | a0001c0001t0001g0116 a0001c0001t0016g0124 |
2 | HG01358.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3280): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3321): Show |
1 | a0001c0001t0001g0144 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3332): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3347): Show |
2 | a0001c0001t0001g0081 a0001c0001t0008g0096 |
2 | HG01952.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3358): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3373): Show |
1 | a0001c0001t0001g0054 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3384): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3425): Show |
2 | a0001c0001t0001g0040 a0001c0001t0001g0135 |
2 | HG02922.hp1 NA18971.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3436): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3451): Show |
3 | a0001c0001t0001g0047 a0001c0001t0001g0102 a0001c0001t0001g0120 |
3 | HG01884.hp2 HG02886.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3462): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3477): Show |
3 | a0001c0001t0001g0070 a0001c0001t0001g0151 a0001c0001t0021g0147 |
3 | HG01074.hp1 HG02015.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3488): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3555): Show |
1 | a0001c0001t0001g0134 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3566): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3607): Show |
2 | a0001c0001t0001g0043 a0001c0001t0001g0100 |
2 | HG02074.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3618): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3633): Show |
1 | a0001c0001t0001g0068 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3644): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3659): Show |
1 | a0001c0001t0001g0066 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3670): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3685): Show |
3 | a0001c0001t0001g0064 a0001c0001t0001g0092 a0001c0001t0001g0094 |
3 | HG01261.hp1 NA18982.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3696): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3737): Show |
3 | a0001c0001t0001g0044 a0001c0001t0001g0067 a0001c0001t0001g0133 |
3 | NA19062.hp1 NA19063.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3748): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3763): Show |
3 | a0001c0001t0001g0132 a0001c0001t0001g0155 a0001c0004t0001g0051 |
3 | HG02258.hp1 HG04228.hp1 NA18966.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3774): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3789): Show |
3 | a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0149 |
3 | HG02132.hp1 NA18960.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3800): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3815): Show |
2 | a0001c0001t0001g0021 a0001c0001t0001g0152 |
2 | HG03492.hp1 NA18989.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3826): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3841): Show |
2 | a0001c0001t0001g0131 a0001c0001t0015g0141 |
2 | HG03710.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3852): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3919): Show |
1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3930): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3945): Show |
2 | a0001c0001t0001g0086 a0001c0001t0012g0148 |
2 | HG00280.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(3956): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3997): Show |
2 | a0001c0001t0001g0097 a0001c0001t0007g0122 |
2 | HG00609.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.164-12182_164-1218 others(4008): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(4101): Show |
1 | a0001c0001t0001g0143 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(4112): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(4127): Show |
1 | a0001c0001t0001g0065 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(4138): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(4153): Show |
1 | a0001c0001t0001g0061 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(4164): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(4205): Show |
1 | a0001c0001t0001g0142 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(4216): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(4413): Show |
1 | a0001c0001t0013g0095 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(4424): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(4569): Show |
1 | a0001c0001t0001g0059 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(4580): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3061): Show |
1 | a0001c0001t0001g0078 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3072): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3738): Show |
1 | a0001c0001t0001g0046 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3749): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3921): Show |
1 | a0001c0001t0001g0072 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3932): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1787): Show |
1 | a0001c0001t0001g0028 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1798): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3789): Show |
1 | a0001c0001t0001g0057 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3800): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3737): Show |
1 | a0001c0001t0001g0058 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3748): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(3633): Show |
1 | a0001c0001t0001g0105 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3644): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2827): Show |
1 | a0001c0001t0001g0071 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(2838): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(4023): Show |
1 | a0001c0001t0001g0056 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(4034): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(1735): Show |
1 | a0001c0002t0019g0010 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.164-12255_164-1225 others(1746): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(2880): Show |
1 | a0001c0001t0001g0114 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.164-12414_164-1241 others(2891): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057375 | G | GTCCTGGA others(279): Show |
1 | a0001c0003t0003g0169 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.164-12479_164-1247 others(290): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057375 | ||||||
| chrX:50057387 | T | C | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12492T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057387 | |||||||
| chrX:50057394 | C | CAG | 5 | a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0003t0003g0165 others(2): Show |
5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12484_164-1248 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057394 | ||||||
| chrX:50057401 | C | G | 7 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0022g0136 others(4): Show |
7 | HG00738.hp1 HG02809.hp2 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.164-12478C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057401 | |||||||
| chrX:50057413 | T | C | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12466T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057413 | |||||||
| chrX:50057420 | C | CAG | 5 | a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0003t0003g0165 others(2): Show |
5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12458_164-1245 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057420 | ||||||
| chrX:50057427 | C | G | 5 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0022g0136 others(2): Show |
5 | HG02809.hp2 HG03195.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12452C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057427 | |||||||
| chrX:50057439 | T | C | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12440T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057439 | |||||||
| chrX:50057446 | C | CAG | 5 | a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0003t0003g0165 others(2): Show |
5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12432_164-1243 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057446 | ||||||
| chrX:50057453 | C | G | 4 | a0001c0001t0004g0137 a0001c0001t0022g0136 a0001c0003t0003g0163 others(1): Show |
4 | HG00738.hp1 HG03195.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.164-12426C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057453 | |||||||
| chrX:50057465 | T | C | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12414T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057465 | |||||||
| chrX:50057472 | C | CAG | 5 | a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0003t0003g0165 others(2): Show |
5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12406_164-1240 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057472 | ||||||
| chrX:50057479 | C | G | 3 | a0001c0001t0001g0125 a0001c0001t0022g0136 a0001c0003t0003g0175 |
3 | HG00738.hp1 HG02809.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.164-12400C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057479 | |||||||
| chrX:50057491 | T | C | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12388T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057491 | |||||||
| chrX:50057498 | C | CAG | 5 | a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0003t0003g0165 others(2): Show |
5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12380_164-1237 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057498 | ||||||
| chrX:50057505 | C | G | 3 | a0001c0003t0003g0162 a0001c0003t0003g0163 a0001c0003t0003g0175 |
3 | HG00738.hp1 HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.164-12374C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057505 | |||||||
| chrX:50057514 | A | C | 1 | a0001c0001t0004g0137 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.164-12365A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057514 | |||||||
| chrX:50057517 | T | C | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12362T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057517 | |||||||
| chrX:50057524 | C | CAG | 5 | a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0003t0003g0165 others(2): Show |
5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12354_164-1235 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057524 | ||||||
| chrX:50057540 | A | C | 1 | a0001c0001t0004g0137 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.164-12339A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057540 | |||||||
| chrX:50057541 | G | GATACTAT others(1154): Show |
1 | a0001c0001t0001g0125 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.164-12262_164-1226 others(1165): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057541 | ||||||
| chrX:50057543 | T | C | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12336T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057543 | |||||||
| chrX:50057546 | T | TATCCAGG others(634): Show |
1 | a0001c0001t0004g0137 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.164-12314_164-1231 others(645): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057546 | ||||||
| chrX:50057550 | C | CAG | 5 | a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0003t0003g0165 others(2): Show |
5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12328_164-1232 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057550 | ||||||
| chrX:50057567 | G | C | 2 | a0001c0001t0001g0125 a0001c0001t0004g0137 |
2 | HG02809.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.164-12312G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057567 | |||||||
| chrX:50057569 | T | C | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12310T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057569 | |||||||
| chrX:50057576 | C | CAG | 5 | a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0003t0003g0165 others(2): Show |
5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12302_164-1230 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057576 | ||||||
| chrX:50057590 | A | ATAGATAC others(1683): Show |
1 | a0001c0002t0002g0130 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1694): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057590 | ||||||
| chrX:50057593 | G | C | 2 | a0001c0001t0001g0125 a0001c0001t0004g0137 |
2 | HG02809.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.164-12286G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057593 | |||||||
| chrX:50057593 | G | GATACTAT others(1466): Show |
1 | a0001c0003t0003g0163 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.164-12210_164-1220 others(1477): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057593 | ||||||
| chrX:50057595 | T | C | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12284T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057595 | |||||||
| chrX:50057602 | C | CAG | 5 | a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0003t0003g0165 others(2): Show |
5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12276_164-1227 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057602 | ||||||
| chrX:50057618 | A | C | 1 | a0001c0003t0003g0018 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.164-12261A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057618 | |||||||
| chrX:50057619 | G | C | 3 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0003t0003g0163 |
3 | HG02809.hp2 HG03195.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.164-12260G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057619 | |||||||
| chrX:50057619 | G | GATACTAT others(1457): Show |
1 | a0001c0001t0022g0136 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.164-12236_164-1223 others(1468): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057619 | ||||||
| chrX:50057621 | T | C | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12258T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057621 | |||||||
| chrX:50057628 | C | CAG | 5 | a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0003t0003g0165 others(2): Show |
5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12250_164-1224 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057628 | ||||||
| chrX:50057644 | A | AGATACTA others(1388): Show |
1 | a0001c0003t0003g0162 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1399): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057644 | ||||||
| chrX:50057645 | G | C | 4 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0022g0136 others(1): Show |
4 | HG02809.hp2 HG03195.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.164-12234G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057645 | |||||||
| chrX:50057647 | T | C | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12232T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057647 | |||||||
| chrX:50057648 | A | ACTATCCA others(4148): Show |
1 | a0001c0001t0001g0084 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(4159): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057648 | ||||||
| chrX:50057654 | C | CAGAGGAC others(219): Show |
3 | a0001c0001t0010g0019 a0001c0003t0003g0165 a0001c0003t0003g0167 |
3 | HG02486.hp1 HG02622.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.164-12223_164-1222 others(230): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057654 | ||||||
| chrX:50057654 | C | CAGAGGAC others(247): Show |
2 | a0001c0001t0010g0020 a0001c0003t0003g0166 |
2 | HG01884.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.164-12223_164-1222 others(258): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057654 | ||||||
| chrX:50057671 | G | C | 5 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0022g0136 others(2): Show |
5 | HG02809.hp2 HG03195.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12208G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057671 | |||||||
| chrX:50057671 | G | GATACTAT others(1605): Show |
1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.164-12182_164-1218 others(1616): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057671 | ||||||
| chrX:50057671 | G | GATACTAT others(1561): Show |
1 | a0001c0003t0003g0169 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.164-12184_164-1218 others(1572): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057671 | ||||||
| chrX:50057671 | G | GATACTAT others(2133): Show |
1 | a0001c0003t0003g0018 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.164-12184_164-1218 others(2144): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057671 | ||||||
| chrX:50057673 | T | C | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-12206T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057673 | |||||||
| chrX:50057680 | C | CAG | 5 | a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0003t0003g0165 others(2): Show |
5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-12198_164-1219 others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057680 | ||||||
| chrX:50057681 | A | AGGACTCT others(3269): Show |
1 | a0001c0004t0001g0048 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.164-12182_164-1218 others(3280): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50057681 | ||||||
| chrX:50057749 | C | T | 1 | a0001c0002t0002g0011 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.164-12130C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057749 | |||||||
| chrX:50057766 | A | C | 1 | a0001c0001t0001g0085 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.164-12113A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50057766 | |||||||
| chrX:50058070 | A | G | 1 | a0001c0001t0001g0075 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.164-11809A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50058070 | |||||||
| chrX:50058300 | A | G | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-11579A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50058300 | |||||||
| chrX:50058524 | G | A | 1 | a0001c0001t0012g0148 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.164-11355G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50058524 | |||||||
| chrX:50058632 | G | T | 1 | a0001c0001t0001g0069 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.164-11247G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50058632 | |||||||
| chrX:50058699 | T | C | 2 | a0001c0003t0003g0162 a0001c0003t0003g0163 |
2 | HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.164-11180T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50058699 | |||||||
| chrX:50058720 | A | C | 1 | a0001c0001t0004g0164 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.164-11159A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50058720 | |||||||
| chrX:50059917 | C | T | 1 | a0001c0008t0003g0005 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.164-9962C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50059917 | |||||||
| chrX:50060128 | G | C | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.164-9751G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060128 | |||||||
| chrX:50060274 | G | C | 2 | a0001c0001t0001g0061 a0001c0001t0001g0062 |
2 | HG01069.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.164-9605G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060274 | |||||||
| chrX:50060282 | G | A | 1 | a0001c0003t0003g0169 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.164-9597G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060282 | |||||||
| chrX:50060311 | G | A | 26 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(23): Show |
26 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(23): Show |
intron_variant | MODIFIER | c.164-9568G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060311 | |||||||
| chrX:50060326 | G | A | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-9553G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060326 | |||||||
| chrX:50060471 | C | T | 1 | a0001c0001t0001g0100 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.164-9408C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060471 | |||||||
| chrX:50060495 | C | G | 2 | a0001c0003t0003g0165 a0001c0003t0003g0166 |
2 | HG01884.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.164-9384C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060495 | |||||||
| chrX:50060496 | G | A | 7 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(4): Show |
7 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.164-9383G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060496 | |||||||
| chrX:50060507 | C | T | 1 | a0001c0001t0001g0057 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.164-9372C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060507 | |||||||
| chrX:50060560 | G | A | 1 | a0001c0001t0001g0144 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.164-9319G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060560 | |||||||
| chrX:50060626 | G | C | 3 | a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0003t0003g0175 |
3 | HG00738.hp1 HG03492.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.164-9253G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060626 | |||||||
| chrX:50060627 | G | A | 3 | a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0003t0003g0175 |
3 | HG00738.hp1 HG03492.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.164-9252G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060627 | |||||||
| chrX:50060636 | G | A | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.164-9243G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060636 | |||||||
| chrX:50060699 | G | C | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.164-9180G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060699 | |||||||
| chrX:50060767 | C | T | 1 | a0001c0001t0001g0125 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.164-9112C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060767 | |||||||
| chrX:50060796 | A | G | 44 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(41): Show |
44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.164-9083A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060796 | |||||||
| chrX:50060856 | C | T | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.164-9023C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060856 | |||||||
| chrX:50060912 | G | A | 1 | a0001c0002t0002g0014 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.164-8967G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060912 | |||||||
| chrX:50060973 | A | C | 1 | a0001c0001t0001g0050 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.164-8906A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50060973 | |||||||
| chrX:50061086 | A | G | 3 | a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0001t0013g0095 |
3 | HG02129.hp1 NA19009.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.164-8793A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061086 | |||||||
| chrX:50061138 | T | C | 5 | a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0003t0003g0165 others(2): Show |
5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-8741T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061138 | |||||||
| chrX:50061139 | G | A | 5 | a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0003t0003g0165 others(2): Show |
5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-8740G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061139 | |||||||
| chrX:50061257 | A | G | 1 | a0001c0002t0002g0130 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.164-8622A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061257 | |||||||
| chrX:50061371 | G | A | 32 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(29): Show |
32 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(29): Show |
intron_variant | MODIFIER | c.164-8508G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061371 | |||||||
| chrX:50061595 | C | A | 1 | a0001c0001t0004g0137 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.164-8284C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061595 | |||||||
| chrX:50061668 | T | C | 171 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(168): Show |
171 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(168): Show |
intron_variant | MODIFIER | c.164-8211T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061668 | |||||||
| chrX:50061704 | G | T | 32 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(29): Show |
32 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(29): Show |
intron_variant | MODIFIER | c.164-8175G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061704 | |||||||
| chrX:50061887 | A | T | 1 | a0001c0001t0001g0120 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.164-7992A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061887 | |||||||
| chrX:50061905 | C | T | 44 | a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 others(41): Show |
44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.164-7974C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061905 | |||||||
| chrX:50061960 | C | G | 6 | a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0055 others(3): Show |
6 | HG01243.hp1 HG02647.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.164-7919C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061960 | |||||||
| chrX:50061961 | C | A | 6 | a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0055 others(3): Show |
6 | HG01243.hp1 HG02647.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.164-7918C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50061961 | |||||||
| chrX:50062041 | T | C | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-7838T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062041 | |||||||
| chrX:50062090 | G | C | 1 | a0001c0001t0022g0136 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.164-7789G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062090 | |||||||
| chrX:50062144 | T | C | 1 | a0001c0001t0012g0148 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.164-7735T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062144 | |||||||
| chrX:50062394 | ATCAAAAG others(19): Show |
A | 1 | a0001c0001t0001g0088 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.164-7484_164-7459d others(28): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062394 | |||||||
| chrX:50062535 | A | T | 169 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(166): Show |
169 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(166): Show |
intron_variant | MODIFIER | c.164-7344A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062535 | |||||||
| chrX:50062631 | C | T | 1 | a0001c0001t0001g0129 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.164-7248C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062631 | |||||||
| chrX:50062654 | G | A | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-7225G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062654 | |||||||
| chrX:50062678 | A | T | 8 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0022g0136 others(5): Show |
8 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.164-7201A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062678 | |||||||
| chrX:50062749 | T | C | 1 | a0001c0001t0001g0076 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.164-7130T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062749 | |||||||
| chrX:50062751 | C | G | 33 | a0001c0001t0001g0076 a0001c0001t0001g0125 a0001c0001t0004g0137 others(30): Show |
33 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(30): Show |
intron_variant | MODIFIER | c.164-7128C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062751 | |||||||
| chrX:50062753 | G | T | 33 | a0001c0001t0001g0076 a0001c0001t0001g0125 a0001c0001t0004g0137 others(30): Show |
33 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(30): Show |
intron_variant | MODIFIER | c.164-7126G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062753 | |||||||
| chrX:50062770 | T | C | 1 | a0001c0001t0001g0022 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.164-7109T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062770 | |||||||
| chrX:50062787 | G | A | 11 | a0001c0001t0001g0076 a0001c0001t0001g0125 a0001c0001t0004g0137 others(8): Show |
11 | HG00738.hp1 HG01255.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.164-7092G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062787 | |||||||
| chrX:50062975 | A | C | 5 | a0001c0001t0001g0121 a0001c0001t0007g0122 a0001c0002t0004g0002 others(2): Show |
5 | HG01106.hp1 HG02622.hp2 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-6904A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50062975 | |||||||
| chrX:50063115 | A | G | 3 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 |
3 | HG01934.hp1 HG02280.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.164-6764A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50063115 | |||||||
| chrX:50063335 | T | C | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-6544T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50063335 | |||||||
| chrX:50063342 | A | C | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-6537A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50063342 | |||||||
| chrX:50063494 | A | C | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-6385A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50063494 | |||||||
| chrX:50063495 | G | T | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-6384G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50063495 | |||||||
| chrX:50063563 | C | A | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.164-6316C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50063563 | |||||||
| chrX:50063689 | A | G | 1 | a0001c0001t0004g0164 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.164-6190A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50063689 | |||||||
| chrX:50063715 | A | T | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.164-6164A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50063715 | |||||||
| chrX:50063743 | C | G | 2 | a0001c0002t0002g0011 a0001c0002t0002g0130 |
2 | HG02809.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.164-6136C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50063743 | |||||||
| chrX:50063825 | G | T | 1 | a0001c0001t0001g0088 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.164-6054G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50063825 | |||||||
| chrX:50064008 | G | T | 6 | a0001c0001t0001g0125 a0001c0001t0010g0019 a0001c0001t0010g0020 others(3): Show |
6 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.164-5871G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064008 | |||||||
| chrX:50064122 | C | T | 2 | a0001c0001t0001g0146 a0001c0001t0001g0153 |
2 | NA18959.hp1 NA18988.hp1 |
intron_variant | MODIFIER | c.164-5757C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064122 | |||||||
| chrX:50064155 | G | A | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-5724G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064155 | |||||||
| chrX:50064254 | T | G | 10 | a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0125 others(7): Show |
10 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(7): Show |
intron_variant | MODIFIER | c.164-5625T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064254 | |||||||
| chrX:50064256 | A | G | 1 | a0001c0001t0004g0164 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.164-5623A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064256 | |||||||
| chrX:50064263 | G | A | 3 | a0001c0001t0001g0052 a0001c0001t0001g0129 a0001c0003t0003g0165 |
3 | HG02486.hp1 HG02615.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.164-5616G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064263 | |||||||
| chrX:50064265 | C | T | 2 | a0001c0001t0001g0052 a0001c0001t0001g0129 |
2 | HG02615.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.164-5614C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064265 | |||||||
| chrX:50064392 | A | G | 1 | a0001c0001t0001g0084 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.164-5487A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064392 | |||||||
| chrX:50064466 | C | G | 1 | a0001c0001t0001g0144 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.164-5413C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064466 | |||||||
| chrX:50064587 | C | A | 5 | a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 others(2): Show |
5 | HG02145.hp1 HG02615.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-5292C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064587 | |||||||
| chrX:50064611 | A | G | 2 | a0001c0003t0003g0018 a0001c0003t0003g0169 |
2 | HG02280.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.164-5268A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064611 | |||||||
| chrX:50064892 | C | G | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-4987C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064892 | |||||||
| chrX:50064902 | C | G | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.164-4977C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50064902 | |||||||
| chrX:50065133 | A | G | 1 | a0001c0001t0001g0060 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.164-4746A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065133 | |||||||
| chrX:50065146 | C | A | 1 | a0001c0002t0002g0015 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.164-4733C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065146 | |||||||
| chrX:50065174 | A | G | 3 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0007t0001g0029 |
3 | HG02451.hp2 HG02970.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.164-4705A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065174 | |||||||
| chrX:50065187 | T | C | 9 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(6): Show |
9 | HG01192.hp1 HG01258.hp1 HG01928.hp1 others(6): Show |
intron_variant | MODIFIER | c.164-4692T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065187 | |||||||
| chrX:50065332 | C | A | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-4547C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065332 | |||||||
| chrX:50065408 | G | A | 32 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(29): Show |
32 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(29): Show |
intron_variant | MODIFIER | c.164-4471G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065408 | |||||||
| chrX:50065465 | T | C | 1 | a0001c0001t0001g0086 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.164-4414T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065465 | |||||||
| chrX:50065495 | G | T | 2 | a0001c0001t0006g0139 a0001c0001t0006g0140 |
2 | NA19009.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.164-4384G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065495 | |||||||
| chrX:50065568 | T | C | 5 | a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 others(2): Show |
5 | NA18974.hp1 NA19006.hp1 NA19072.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-4311T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065568 | |||||||
| chrX:50065698 | A | C | 1 | a0001c0001t0001g0041 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.164-4181A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065698 | |||||||
| chrX:50065726 | G | A | 1 | a0001c0001t0018g0117 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.164-4153G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065726 | |||||||
| chrX:50065757 | C | A | 1 | a0001c0001t0004g0164 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.164-4122C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065757 | |||||||
| chrX:50065840 | T | G | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.164-4039T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065840 | |||||||
| chrX:50065910 | C | G | 1 | a0001c0002t0002g0004 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.164-3969C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065910 | |||||||
| chrX:50065929 | G | A | 1 | a0001c0001t0004g0164 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.164-3950G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065929 | |||||||
| chrX:50065967 | T | A | 14 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(11): Show |
14 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.164-3912T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50065967 | |||||||
| chrX:50066163 | T | TA | 12 | a0001c0001t0001g0040 a0001c0001t0001g0052 a0001c0001t0001g0060 others(9): Show |
12 | HG00741.hp1 HG02622.hp1 HG03041.hp1 others(9): Show |
intron_variant | MODIFIER | c.164-3700dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50066163 | ||||||
| chrX:50066163 | TA | T | 30 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(27): Show |
30 | HG00738.hp1 HG01069.hp1 HG01081.hp1 others(27): Show |
intron_variant | MODIFIER | c.164-3700delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50066163 | ||||||
| chrX:50066177 | AAAG | A | 12 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(9): Show |
12 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(9): Show |
intron_variant | MODIFIER | c.164-3699_164-3697d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50066177 | ||||||
| chrX:50066202 | C | CA | 5 | a0001c0001t0001g0021 a0001c0001t0001g0108 a0001c0001t0001g0109 others(2): Show |
5 | NA18989.hp1 NA19006.hp1 NA19072.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-3663dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50066202 | ||||||
| chrX:50066202 | C | CAAAAAAA others(5): Show |
10 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(7): Show |
10 | HG02615.hp2 HG02622.hp2 HG02965.hp1 others(7): Show |
intron_variant | MODIFIER | c.164-3674_164-3663d others(14): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50066202 | ||||||
| chrX:50066202 | C | CAAAAAAA others(6): Show |
11 | a0001c0001t0004g0137 a0001c0001t0022g0136 a0001c0002t0002g0009 others(8): Show |
11 | HG00738.hp1 HG01167.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.164-3675_164-3663d others(15): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50066202 | ||||||
| chrX:50066202 | C | CAAAAAAA others(7): Show |
5 | a0001c0001t0001g0125 a0001c0001t0004g0164 a0001c0002t0002g0014 others(2): Show |
5 | HG01255.hp1 HG02630.hp2 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.164-3676_164-3663d others(16): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50066202 | ||||||
| chrX:50066202 | C | CAAAAAAA others(8): Show |
1 | a0001c0002t0009g0017 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.164-3663_164-3662i others(17): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50066202 | ||||||
| chrX:50066368 | A | C | 5 | a0001c0001t0001g0102 a0001c0001t0001g0121 a0001c0001t0001g0142 others(2): Show |
5 | HG00642.hp1 HG01081.hp1 HG01106.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-3511A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50066368 | |||||||
| chrX:50066455 | T | C | 5 | a0001c0001t0001g0102 a0001c0001t0001g0121 a0001c0001t0001g0142 others(2): Show |
5 | HG00642.hp1 HG01081.hp1 HG01106.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-3424T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50066455 | |||||||
| chrX:50066776 | A | G | 96 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(93): Show |
96 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(93): Show |
intron_variant | MODIFIER | c.164-3103A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50066776 | |||||||
| chrX:50066886 | A | G | 1 | a0001c0001t0004g0137 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.164-2993A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50066886 | |||||||
| chrX:50066922 | T | TAAAG | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-2955_164-2954i others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | 50066922 | ||||||
| chrX:50066933 | CAT | C | 14 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0005g0170 others(11): Show |
14 | HG00738.hp1 HG01081.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.164-2945_164-2944d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50066933 | |||||||
| chrX:50067048 | A | T | 1 | a0001c0001t0001g0102 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.164-2831A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50067048 | |||||||
| chrX:50067194 | A | G | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.164-2685A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50067194 | |||||||
| chrX:50067217 | G | T | 1 | a0001c0001t0001g0041 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.164-2662G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50067217 | |||||||
| chrX:50067582 | A | G | 1 | a0001c0001t0001g0112 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.164-2297A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50067582 | |||||||
| chrX:50068144 | A | C | 1 | a0001c0001t0001g0144 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.164-1735A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50068144 | |||||||
| chrX:50068489 | C | G | 5 | a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0003t0003g0165 others(2): Show |
5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.164-1390C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50068489 | |||||||
| chrX:50068754 | A | C | 18 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(15): Show |
18 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(15): Show |
intron_variant | MODIFIER | c.164-1125A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50068754 | |||||||
| chrX:50069618 | C | T | 1 | a0001c0001t0001g0121 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.164-261C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50069618 | |||||||
| chrX:50069627 | C | G | 14 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(11): Show |
14 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.164-252C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | chrX | 50069627 | |||||||
| chrX:50070175 | A | T | 1 | a0001c0001t0001g0121 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.315+145A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 5/14 | chrX | 50070175 | |||||||
| chrX:50071178 | G | A | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.315+1148G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 5/14 | chrX | 50071178 | |||||||
| chrX:50072067 | C | T | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.316-422C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 5/14 | chrX | 50072067 | |||||||
| chrX:50072286 | A | AT | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.316-201dupT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chrX | 50072286 | ||||||
| chrX:50072719 | T | C | 3 | a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0016 |
3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.415+131T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50072719 | |||||||
| chrX:50072908 | A | G | 2 | a0001c0001t0001g0040 a0001c0001t0001g0090 |
2 | NA18971.hp1 NA19089.hp1 |
intron_variant | MODIFIER | c.415+320A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50072908 | |||||||
| chrX:50072966 | G | T | 3 | a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0011g0039 |
3 | HG01192.hp1 HG03688.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.415+378G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50072966 | |||||||
| chrX:50073010 | G | A | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.415+422G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50073010 | |||||||
| chrX:50073106 | T | A | 169 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(166): Show |
169 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(166): Show |
intron_variant | MODIFIER | c.415+518T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50073106 | |||||||
| chrX:50074260 | T | C | 16 | a0001c0001t0001g0045 a0001c0001t0001g0063 a0001c0001t0001g0065 others(13): Show |
16 | HG01261.hp1 HG02040.hp1 HG02071.hp1 others(13): Show |
intron_variant | MODIFIER | c.416-1535T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50074260 | |||||||
| chrX:50074335 | G | A | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.416-1460G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50074335 | |||||||
| chrX:50074537 | T | C | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.416-1258T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50074537 | |||||||
| chrX:50074545 | C | T | 1 | a0001c0002t0002g0130 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.416-1250C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50074545 | |||||||
| chrX:50074810 | A | G | 1 | a0001c0001t0004g0164 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.416-985A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50074810 | |||||||
| chrX:50075250 | C | A | 5 | a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 others(2): Show |
5 | HG02145.hp1 HG02615.hp2 HG02976.hp1 others(2): Show |
intron_variant | MODIFIER | c.416-545C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50075250 | |||||||
| chrX:50075250 | C | G | 3 | a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0001t0013g0095 |
3 | HG02129.hp1 NA19009.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.416-545C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50075250 | |||||||
| chrX:50075257 | A | G | 169 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(166): Show |
169 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(166): Show |
intron_variant | MODIFIER | c.416-538A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50075257 | |||||||
| chrX:50075643 | A | G | 8 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(5): Show |
8 | HG01081.hp2 HG02622.hp1 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.416-152A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50075643 | |||||||
| chrX:50075789 | A | T | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
splice_region_variant&intron_variant | LOW | c.416-6A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 6/14 | chrX | 50075789 | |||||||
| chrX:50076030 | T | G | 1 | a0001c0001t0001g0047 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.603+48T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50076030 | |||||||
| chrX:50076224 | A | G | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.603+242A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50076224 | |||||||
| chrX:50076687 | C | G | 2 | a0001c0002t0009g0013 a0001c0002t0009g0017 |
2 | HG02630.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.603+705C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50076687 | |||||||
| chrX:50076810 | A | G | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.603+828A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50076810 | |||||||
| chrX:50076814 | A | G | 1 | a0001c0003t0003g0175 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.603+832A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50076814 | |||||||
| chrX:50076821 | A | G | 17 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(14): Show |
17 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.603+839A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50076821 | |||||||
| chrX:50077156 | A | C | 3 | a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0016 |
3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.603+1174A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077156 | |||||||
| chrX:50077172 | A | G | 2 | a0001c0001t0001g0056 a0001c0001t0001g0061 |
2 | HG01069.hp1 HG01070.hp1 |
intron_variant | MODIFIER | c.603+1190A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077172 | |||||||
| chrX:50077212 | A | G | 1 | a0001c0001t0001g0168 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.603+1230A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077212 | |||||||
| chrX:50077474 | C | T | 3 | a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0016 |
3 | HG02622.hp2 HG02965.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.603+1492C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077474 | |||||||
| chrX:50077580 | TAGGG | T | 5 | a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 others(2): Show |
5 | HG02071.hp1 NA18943.hp1 NA18990.hp1 others(2): Show |
intron_variant | MODIFIER | c.603+1599_603+1602d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077580 | |||||||
| chrX:50077594 | A | AAG | 3 | a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0093 |
3 | HG02572.hp1 HG03579.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.603+1639_603+1640d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077594 | ||||||
| chrX:50077594 | AAG | A | 2 | a0001c0001t0001g0134 a0001c0004t0001g0048 |
2 | HG02027.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.603+1639_603+1640d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077594 | ||||||
| chrX:50077594 | AAGAG | A | 8 | a0001c0001t0001g0120 a0001c0001t0001g0157 a0001c0001t0022g0136 others(5): Show |
8 | HG01167.hp1 HG02630.hp2 HG02970.hp2 others(5): Show |
intron_variant | MODIFIER | c.603+1637_603+1640d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077594 | ||||||
| chrX:50077594 | AAGAGAG | A | 6 | a0001c0002t0002g0011 a0001c0002t0002g0130 a0001c0002t0004g0003 others(3): Show |
6 | HG02280.hp1 HG02622.hp2 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.603+1635_603+1640d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077594 | ||||||
| chrX:50077594 | AAGAGAGA others(1): Show |
A | 6 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0002t0004g0002 others(3): Show |
6 | HG00738.hp1 HG02809.hp2 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.603+1633_603+1640d others(10): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077594 | ||||||
| chrX:50077594 | AAGAGAGA others(3): Show |
A | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.603+1631_603+1640d others(12): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077594 | ||||||
| chrX:50077613 | A | T | 2 | a0001c0002t0002g0004 a0001c0008t0003g0005 |
2 | HG03453.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.603+1631A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077613 | |||||||
| chrX:50077615 | A | T | 7 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 others(4): Show |
7 | HG02145.hp1 HG02615.hp2 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.603+1633A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077615 | |||||||
| chrX:50077617 | A | T | 13 | a0001c0001t0022g0136 a0001c0002t0002g0004 a0001c0002t0002g0006 others(10): Show |
13 | HG01167.hp1 HG02145.hp1 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.603+1635A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077617 | |||||||
| chrX:50077619 | A | T | 19 | a0001c0001t0022g0136 a0001c0002t0002g0004 a0001c0002t0002g0006 others(16): Show |
19 | HG01167.hp1 HG02145.hp1 HG02280.hp1 others(16): Show |
intron_variant | MODIFIER | c.603+1637A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077619 | |||||||
| chrX:50077621 | A | AGT | 21 | a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0045 others(18): Show |
21 | HG00621.hp1 HG00642.hp1 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.603+1672_603+1673d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077621 | ||||||
| chrX:50077621 | A | AGTGT | 2 | a0001c0001t0011g0039 a0001c0004t0001g0051 |
2 | HG01192.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.603+1670_603+1673d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077621 | ||||||
| chrX:50077621 | A | T | 33 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(30): Show |
33 | HG00280.hp1 HG00738.hp1 HG01167.hp1 others(30): Show |
intron_variant | MODIFIER | c.603+1639A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077621 | |||||||
| chrX:50077621 | AGT | A | 8 | a0001c0001t0001g0104 a0001c0001t0001g0159 a0001c0001t0005g0170 others(5): Show |
8 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(5): Show |
intron_variant | MODIFIER | c.603+1672_603+1673d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077621 | ||||||
| chrX:50077621 | AGTGT | A | 5 | a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0003t0003g0165 others(2): Show |
5 | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.603+1670_603+1673d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077621 | ||||||
| chrX:50077621 | AGTGTGT | A | 2 | a0001c0001t0001g0057 a0001c0001t0001g0075 |
2 | HG01515.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.603+1668_603+1673d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077621 | ||||||
| chrX:50077623 | T | A | 8 | a0001c0001t0001g0030 a0001c0001t0001g0060 a0001c0001t0001g0126 others(5): Show |
8 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.603+1641T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077623 | |||||||
| chrX:50077625 | T | A | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.603+1643T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077625 | |||||||
| chrX:50077627 | T | A | 11 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(8): Show |
11 | HG01081.hp2 HG01884.hp1 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.603+1645T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077627 | |||||||
| chrX:50077629 | T | A | 3 | a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 |
3 | HG01884.hp1 HG02486.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.603+1647T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077629 | |||||||
| chrX:50077687 | T | C | 3 | a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0016g0124 |
3 | HG01358.hp1 HG02698.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.603+1705T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077687 | |||||||
| chrX:50077812 | C | CA | 21 | a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0061 others(18): Show |
21 | HG01069.hp1 HG01109.hp1 HG01192.hp1 others(18): Show |
intron_variant | MODIFIER | c.603+1867dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | ||||||
| chrX:50077812 | C | CAA | 12 | a0001c0001t0001g0021 a0001c0001t0001g0056 a0001c0001t0001g0067 others(9): Show |
12 | HG00609.hp1 HG00621.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.603+1866_603+1867d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | ||||||
| chrX:50077812 | C | CAAA | 5 | a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0113 others(2): Show |
5 | HG02486.hp1 HG03486.hp1 NA18944.hp1 others(2): Show |
intron_variant | MODIFIER | c.603+1865_603+1867d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | ||||||
| chrX:50077812 | CA | C | 36 | a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 others(33): Show |
36 | HG00140.hp1 HG01074.hp1 HG01243.hp1 others(33): Show |
intron_variant | MODIFIER | c.603+1867delA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | ||||||
| chrX:50077812 | CAA | C | 12 | a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0033 others(9): Show |
12 | HG01943.hp1 HG02055.hp1 HG02280.hp2 others(9): Show |
intron_variant | MODIFIER | c.603+1866_603+1867d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | ||||||
| chrX:50077812 | CAAA | C | 9 | a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0012 others(6): Show |
9 | HG01167.hp1 HG02145.hp1 HG02965.hp1 others(6): Show |
intron_variant | MODIFIER | c.603+1865_603+1867d others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | ||||||
| chrX:50077812 | CAAAA | C | 6 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0002t0002g0006 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.603+1864_603+1867d others(6): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | ||||||
| chrX:50077812 | CAAAAAA | C | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0005g0170 others(3): Show |
6 | HG01081.hp2 HG02451.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.603+1862_603+1867d others(8): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | ||||||
| chrX:50077812 | CAAAAAAA | C | 10 | a0001c0001t0001g0125 a0001c0001t0004g0164 a0001c0001t0005g0171 others(7): Show |
10 | HG00738.hp1 HG01255.hp1 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.603+1861_603+1867d others(9): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | ||||||
| chrX:50077812 | CAAAAAAA others(5): Show |
C | 3 | a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0010g0019 |
3 | HG02300.hp1 HG02622.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.603+1856_603+1867d others(14): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | ||||||
| chrX:50077812 | CAAAAAAA others(6): Show |
C | 5 | a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 others(2): Show |
5 | NA18974.hp1 NA19006.hp1 NA19070.hp1 others(2): Show |
intron_variant | MODIFIER | c.603+1855_603+1867d others(15): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | ||||||
| chrX:50077812 | CAAAAAAA others(10): Show |
C | 1 | a0001c0001t0007g0122 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.603+1851_603+1867d others(19): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | ||||||
| chrX:50077812 | CAAAAAAA others(11): Show |
C | 4 | a0001c0001t0001g0073 a0001c0001t0001g0121 a0001c0001t0001g0142 others(1): Show |
4 | HG00642.hp1 HG01081.hp1 HG01106.hp1 others(1): Show |
intron_variant | MODIFIER | c.603+1850_603+1867d others(20): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50077812 | ||||||
| chrX:50077835 | A | C | 1 | a0001c0001t0001g0145 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.603+1853A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077835 | |||||||
| chrX:50077838 | A | C | 1 | a0001c0001t0001g0132 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.603+1856A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077838 | |||||||
| chrX:50077890 | T | G | 1 | a0001c0001t0001g0041 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.603+1908T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077890 | |||||||
| chrX:50077977 | G | A | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.603+1995G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50077977 | |||||||
| chrX:50078168 | C | A | 4 | a0001c0001t0001g0125 a0001c0003t0003g0018 a0001c0003t0003g0169 others(1): Show |
4 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(1): Show |
intron_variant | MODIFIER | c.603+2186C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50078168 | |||||||
| chrX:50078330 | T | TCA | 2 | a0001c0001t0001g0040 a0001c0001t0001g0090 |
2 | NA18971.hp1 NA19089.hp1 |
intron_variant | MODIFIER | c.604-2247_604-2246d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50078330 | ||||||
| chrX:50078334 | A | G | 1 | a0001c0008t0003g0005 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.604-2260A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50078334 | |||||||
| chrX:50078565 | C | T | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.604-2029C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50078565 | |||||||
| chrX:50078825 | T | G | 8 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0022g0136 others(5): Show |
8 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.604-1769T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50078825 | |||||||
| chrX:50078830 | G | T | 8 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0022g0136 others(5): Show |
8 | HG00738.hp1 HG02280.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.604-1764G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50078830 | |||||||
| chrX:50078846 | G | A | 2 | a0001c0001t0001g0023 a0001c0001t0001g0024 |
2 | NA18962.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.604-1748G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50078846 | |||||||
| chrX:50078907 | C | G | 27 | a0001c0001t0001g0125 a0001c0001t0004g0137 a0001c0001t0004g0164 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(24): Show |
intron_variant | MODIFIER | c.604-1687C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50078907 | |||||||
| chrX:50079000 | T | G | 2 | a0001c0003t0003g0165 a0001c0003t0003g0166 |
2 | HG01884.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.604-1594T>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50079000 | |||||||
| chrX:50079686 | C | T | 6 | a0001c0001t0001g0030 a0001c0001t0001g0126 a0001c0001t0001g0127 others(3): Show |
6 | HG00741.hp2 HG01070.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.604-908C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50079686 | |||||||
| chrX:50079733 | A | T | 1 | a0001c0001t0001g0044 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.604-861A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50079733 | |||||||
| chrX:50079793 | G | A | 2 | a0001c0001t0004g0164 a0002c0005t0017g0001 |
2 | HG01255.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.604-801G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50079793 | |||||||
| chrX:50079897 | C | G | 4 | a0001c0001t0001g0078 a0001c0001t0001g0119 a0001c0001t0008g0079 others(1): Show |
4 | HG01099.hp1 HG01433.hp1 HG01952.hp1 others(1): Show |
intron_variant | MODIFIER | c.604-697C>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50079897 | |||||||
| chrX:50079964 | G | A | 7 | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0126 others(4): Show |
7 | HG00741.hp2 HG01070.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.604-630G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50079964 | |||||||
| chrX:50080065 | T | A | 1 | a0001c0006t0002g0138 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.604-529T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50080065 | |||||||
| chrX:50080131 | A | G | 5 | a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0001g0066 others(2): Show |
5 | NA18960.hp1 NA19007.hp1 NA19063.hp1 others(2): Show |
intron_variant | MODIFIER | c.604-463A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50080131 | |||||||
| chrX:50080209 | C | T | 1 | a0001c0001t0010g0019 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.604-385C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | chrX | 50080209 | |||||||
| chrX:50080502 | CT | C | 10 | a0001c0001t0004g0137 a0001c0003t0003g0018 a0001c0003t0003g0162 others(7): Show |
10 | HG00738.hp1 HG01884.hp1 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.604-85delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chrX | 50080502 | ||||||
| chrX:50080900 | G | C | 1 | a0001c0001t0022g0136 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.726+184G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 8/14 | chrX | 50080900 | |||||||
| chrX:50080905 | T | C | 2 | a0001c0001t0004g0137 a0001c0001t0004g0164 |
2 | HG03209.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.726+189T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 8/14 | chrX | 50080905 | |||||||
| chrX:50080973 | A | G | 1 | a0001c0001t0001g0105 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.726+257A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 8/14 | chrX | 50080973 | |||||||
| chrX:50081063 | T | C | 30 | a0001c0001t0004g0137 a0001c0001t0004g0164 a0001c0001t0022g0136 others(27): Show |
30 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(27): Show |
intron_variant | MODIFIER | c.726+347T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 8/14 | chrX | 50081063 | |||||||
| chrX:50081222 | AT | A | 6 | a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0110 others(3): Show |
6 | HG01069.hp1 HG01081.hp1 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.727-405delT | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chrX | 50081222 | ||||||
| chrX:50082185 | A | G | 1 | a0001c0001t0018g0117 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.933+338A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50082185 | |||||||
| chrX:50082381 | C | T | 1 | a0001c0002t0002g0014 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.933+534C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50082381 | |||||||
| chrX:50082518 | G | T | 27 | a0001c0001t0004g0137 a0001c0001t0004g0164 a0001c0002t0002g0004 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01884.hp1 others(24): Show |
intron_variant | MODIFIER | c.933+671G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50082518 | |||||||
| chrX:50083192 | C | CA | 25 | a0001c0001t0004g0137 a0001c0001t0004g0164 a0001c0002t0002g0004 others(22): Show |
25 | HG00738.hp1 HG01167.hp1 HG01884.hp1 others(22): Show |
intron_variant | MODIFIER | c.933+1361dupA | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chrX | 50083192 | ||||||
| chrX:50083548 | A | G | 1 | a0001c0004t0001g0048 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.933+1701A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50083548 | |||||||
| chrX:50083636 | T | C | 2 | a0001c0003t0003g0018 a0001c0003t0003g0169 |
2 | HG02280.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.933+1789T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50083636 | |||||||
| chrX:50083663 | A | G | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.933+1816A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50083663 | |||||||
| chrX:50083761 | G | A | 28 | a0001c0001t0004g0137 a0001c0001t0004g0164 a0001c0002t0002g0004 others(25): Show |
28 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(25): Show |
intron_variant | MODIFIER | c.933+1914G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50083761 | |||||||
| chrX:50083813 | A | T | 1 | a0001c0001t0001g0058 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.933+1966A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50083813 | |||||||
| chrX:50083943 | C | A | 27 | a0001c0001t0004g0137 a0001c0001t0004g0164 a0001c0002t0002g0004 others(24): Show |
27 | HG00738.hp1 HG01167.hp1 HG01884.hp1 others(24): Show |
intron_variant | MODIFIER | c.934-2037C>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50083943 | |||||||
| chrX:50084045 | G | A | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.934-1935G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50084045 | |||||||
| chrX:50084487 | T | C | 14 | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0126 others(11): Show |
14 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(11): Show |
intron_variant | MODIFIER | c.934-1493T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50084487 | |||||||
| chrX:50084968 | C | T | 2 | a0001c0001t0004g0137 a0001c0001t0004g0164 |
2 | HG03209.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.934-1012C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50084968 | |||||||
| chrX:50084978 | T | C | 1 | a0001c0001t0001g0054 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.934-1002T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50084978 | |||||||
| chrX:50085296 | G | A | 5 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(2): Show |
5 | HG01081.hp2 HG02976.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.934-684G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50085296 | |||||||
| chrX:50085479 | G | T | 1 | a0001c0001t0001g0044 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.934-501G>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 9/14 | chrX | 50085479 | |||||||
| chrX:50086157 | G | A | 1 | a0002c0005t0017g0001 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1014+97G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 10/14 | chrX | 50086157 | |||||||
| chrX:50086947 | A | G | 5 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(2): Show |
5 | HG01081.hp2 HG02976.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.1557+77A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 11/14 | chrX | 50086947 | |||||||
| chrX:50087346 | AAT | A | 2 | a0001c0001t0001g0057 a0001c0001t0001g0058 |
2 | HG00140.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.1557+482_1557+483d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chrX | 50087346 | ||||||
| chrX:50087350 | T | A | 2 | a0001c0001t0001g0057 a0001c0001t0001g0058 |
2 | HG00140.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.1557+480T>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 11/14 | chrX | 50087350 | |||||||
| chrX:50087351 | A | C | 2 | a0001c0001t0001g0057 a0001c0001t0001g0058 |
2 | HG00140.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.1557+481A>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 11/14 | chrX | 50087351 | |||||||
| chrX:50087705 | C | T | 1 | a0001c0001t0001g0022 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.1557+835C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 11/14 | chrX | 50087705 | |||||||
| chrX:50088169 | T | C | 1 | a0001c0001t0005g0172 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1558-529T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 11/14 | chrX | 50088169 | |||||||
| chrX:50088684 | G | C | 44 | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0126 others(41): Show |
44 | HG00738.hp1 HG00741.hp2 HG01070.hp2 others(41): Show |
intron_variant | MODIFIER | c.1558-14G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 11/14 | chrX | 50088684 | |||||||
| chrX:50089099 | A | ACT | 30 | a0001c0001t0004g0137 a0001c0001t0004g0164 a0001c0001t0022g0136 others(27): Show |
30 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(27): Show |
intron_variant | MODIFIER | c.1744+219_1744+220d others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chrX | 50089099 | ||||||
| chrX:50089957 | G | A | 2 | a0001c0003t0003g0162 a0001c0003t0003g0163 |
2 | HG03195.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1745-159G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 12/14 | chrX | 50089957 | |||||||
| chrX:50090610 | G | A | 7 | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0126 others(4): Show |
7 | HG00741.hp2 HG01070.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.2144-60G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 13/14 | chrX | 50090610 | |||||||
| chrX:50090942 | TAGAA | T | 14 | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0126 others(11): Show |
14 | HG00741.hp2 HG01070.hp2 HG01081.hp2 others(11): Show |
intron_variant | MODIFIER | c.2360+61_2360+64del others(4): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chrX | 50090942 | ||||||
| chrX:50091190 | T | C | 1 | a0001c0001t0013g0095 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.2360+304T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 14/14 | chrX | 50091190 | |||||||
| chrX:50091204 | A | T | 2 | a0001c0001t0004g0137 a0001c0001t0004g0164 |
2 | HG03209.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2360+318A>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 14/14 | chrX | 50091204 | |||||||
| chrX:50091295 | T | C | 30 | a0001c0001t0004g0137 a0001c0001t0004g0164 a0001c0001t0022g0136 others(27): Show |
30 | HG00738.hp1 HG01167.hp1 HG01255.hp1 others(27): Show |
intron_variant | MODIFIER | c.2360+409T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 14/14 | chrX | 50091295 | |||||||
| chrX:50091508 | T | C | 5 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(2): Show |
5 | HG01081.hp2 HG02976.hp2 HG06807.hp2 others(2): Show |
intron_variant | MODIFIER | c.2361-621T>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 14/14 | chrX | 50091508 | |||||||
| chrX:50091903 | G | A | 2 | a0001c0001t0010g0019 a0001c0001t0010g0020 |
2 | HG02622.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.2361-226G>A | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 14/14 | chrX | 50091903 | |||||||
| chrX:50091975 | G | C | 11 | a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0054 others(8): Show |
11 | HG01099.hp1 HG01243.hp1 HG01433.hp1 others(8): Show |
intron_variant | MODIFIER | c.2361-154G>C | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 14/14 | chrX | 50091975 | |||||||
| chrX:50092062 | C | T | 1 | a0001c0001t0007g0087 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2361-67C>T | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 14/14 | chrX | 50092062 | |||||||
| chrX:50092087 | A | G | 2 | a0001c0003t0003g0018 a0001c0003t0003g0169 |
2 | HG02280.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.2361-42A>G | CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 14/14 | chrX | 50092087 |