| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149980954A= | CA1590738589 | SLC26A2 | c.1361A= (p.Gln454=) c.372+2603A= (n.372+2603A=) | |
| 5 | g.149980954A>C | CA116646 | SLC26A2 | c.1361A>C (p.Gln454Pro) c.372+2603A>C (n.372+2603A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980954A>G | CA361707717 | SLC26A2 | c.1361A>G (p.Gln454Arg) c.372+2603A>G (n.372+2603A>G) | COSMIC |
| 5 | g.149980954A>T | CA361707716 | SLC26A2 | c.1361A>T (p.Gln454Leu) c.372+2603A>T (n.372+2603A>T) | |
| 5 | g.149980955G>A | CA447402529 | SLC26A2 | c.1362G>A (p.Gln454=) c.372+2604G>A (n.372+2604G>A) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980955G>C | CA361707718 | SLC26A2 | c.1362G>C (p.Gln454His) c.372+2604G>C (n.372+2604G>C) | |
| 5 | g.149980955G>T | CA361707719 | SLC26A2 | c.1362G>T (p.Gln454His) c.372+2604G>T (n.372+2604G>T) | |
| 5 | g.149980956C>A | CA361707720 | SLC26A2 | c.1363C>A (p.Leu455Ile) c.372+2605C>A (n.372+2605C>A) | |
| 5 | g.149980956C>G | CA361707722 | SLC26A2 | c.1363C>G (p.Leu455Val) c.372+2605C>G (n.372+2605C>G) | |
| 5 | g.149980956C>T | CA361707721 | SLC26A2 | c.1363C>T (p.Leu455Phe) c.372+2605C>T (n.372+2605C>T) | |
| 5 | g.149980957T>A | CA361707723 | SLC26A2 | c.1364T>A (p.Leu455His) c.372+2606T>A (n.372+2606T>A) | |
| 5 | g.149980957T>C | CA361707725 | SLC26A2 | c.1364T>C (p.Leu455Pro) c.372+2606T>C (n.372+2606T>C) | gnomAD v4 |
| 5 | g.149980957T>G | CA361707724 | SLC26A2 | c.1364T>G (p.Leu455Arg) c.372+2606T>G (n.372+2606T>G) | |
| 5 | g.149980958T>A | CA447402530 | SLC26A2 | c.1365T>A (p.Leu455=) c.372+2607T>A (n.372+2607T>A) | COSMIC |
| 5 | g.149980958T>C | CA447402531 | SLC26A2 | c.1365T>C (p.Leu455=) c.372+2607T>C (n.372+2607T>C) | ClinVar gnomAD v4 |
| 5 | g.149980958T>G | CA447402533 | SLC26A2 | c.1365T>G (p.Leu455=) c.372+2607T>G (n.372+2607T>G) | |
| 5 | g.149980959T>A | CA361707726 | SLC26A2 | c.1366T>A (p.Ser456Thr) c.372+2608T>A (n.372+2608T>A) | |
| 5 | g.149980959T>C | CA361707728 | SLC26A2 | c.1366T>C (p.Ser456Pro) c.372+2608T>C (n.372+2608T>C) | |
| 5 | g.149980959T>G | CA361707727 | SLC26A2 | c.1366T>G (p.Ser456Ala) c.372+2608T>G (n.372+2608T>G) | |
| 5 | g.149980960C>A | CA361707729 | SLC26A2 | c.1367C>A (p.Ser456Tyr) c.372+2609C>A (n.372+2609C>A) | |
| 5 | g.149980960C>G | CA361707730 | SLC26A2 | c.1367C>G (p.Ser456Cys) c.372+2609C>G (n.372+2609C>G) | gnomAD v4 |
| 5 | g.149980960C>T | CA361707731 | SLC26A2 | c.1367C>T (p.Ser456Phe) c.372+2609C>T (n.372+2609C>T) | |
| 5 | g.149980961T>A | CA447402534 | SLC26A2 | c.1368T>A (p.Ser456=) c.372+2610T>A (n.372+2610T>A) | |
| 5 | g.149980961T>C | CA447402535 | SLC26A2 | c.1368T>C (p.Ser456=) c.372+2610T>C (n.372+2610T>C) | |
| 5 | g.149980961T>G | CA447402536 | SLC26A2 | c.1368T>G (p.Ser456=) c.372+2610T>G (n.372+2610T>G) | |
| 5 | g.149980962G>A | CA361707732 | SLC26A2 | c.1369G>A (p.Gly457Ser) c.372+2611G>A (n.372+2611G>A) | gnomAD v4 |
| 5 | g.149980962G>C | CA361707733 | SLC26A2 | c.1369G>C (p.Gly457Arg) c.372+2611G>C (n.372+2611G>C) | |
| 5 | g.149980962G>T | CA361707734 | SLC26A2 | c.1369G>T (p.Gly457Cys) c.372+2611G>T (n.372+2611G>T) | |
| 5 | g.149980963G>A | CA361707735 | SLC26A2 | c.1370G>A (p.Gly457Asp) c.372+2612G>A (n.372+2612G>A) | |
| 5 | g.149980963G>C | CA3505426 | SLC26A2 | c.1370G>C (p.Gly457Ala) c.372+2612G>C (n.372+2612G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980963G= | CA1590738590 | SLC26A2 | c.1370G= (p.Gly457=) c.372+2612G= (n.372+2612G=) | |
| 5 | g.149980963G>T | CA361707736 | SLC26A2 | c.1370G>T (p.Gly457Val) c.372+2612G>T (n.372+2612G>T) | |
| 5 | g.149980964T>A | CA447402540 | SLC26A2 | c.1371T>A (p.Gly457=) c.372+2613T>A (n.372+2613T>A) | gnomAD v4 |
| 5 | g.149980964T>C | CA447402538 | SLC26A2 | c.1371T>C (p.Gly457=) c.372+2613T>C (n.372+2613T>C) | |
| 5 | g.149980964T>G | CA447402539 | SLC26A2 | c.1371T>G (p.Gly457=) c.372+2613T>G (n.372+2613T>G) | |
| 5 | g.149980965G>A | CA361707737 | SLC26A2 | c.1372G>A (p.Val458Met) c.372+2614G>A (n.372+2614G>A) | |
| 5 | g.149980965G>C | CA361707738 | SLC26A2 | c.1372G>C (p.Val458Leu) c.372+2614G>C (n.372+2614G>C) | |
| 5 | g.149980965G>T | CA361707739 | SLC26A2 | c.1372G>T (p.Val458Leu) c.372+2614G>T (n.372+2614G>T) | |
| 5 | g.149980966T>A | CA361707740 | SLC26A2 | c.1373T>A (p.Val458Glu) c.372+2615T>A (n.372+2615T>A) | |
| 5 | g.149980966T>C | CA361707742 | SLC26A2 | c.1373T>C (p.Val458Ala) c.372+2615T>C (n.372+2615T>C) | |
| 5 | g.149980966T>G | CA361707741 | SLC26A2 | c.1373T>G (p.Val458Gly) c.372+2615T>G (n.372+2615T>G) | |
| 5 | g.149980967G>A | CA447402541 | SLC26A2 | c.1374G>A (p.Val458=) c.372+2616G>A (n.372+2616G>A) | ClinVar |
| 5 | g.149980967G>C | CA447402542 | SLC26A2 | c.1374G>C (p.Val458=) c.372+2616G>C (n.372+2616G>C) | |
| 5 | g.149980967G>T | CA447402543 | SLC26A2 | c.1374G>T (p.Val458=) c.372+2616G>T (n.372+2616G>T) | |
| 5 | g.149980968G>A | CA361707743 | SLC26A2 | c.1375G>A (p.Val459Ile) c.372+2617G>A (n.372+2617G>A) | |
| 5 | g.149980968G>C | CA361707744 | SLC26A2 | c.1375G>C (p.Val459Leu) c.372+2617G>C (n.372+2617G>C) | |
| 5 | g.149980968G>T | CA361707745 | SLC26A2 | c.1375G>T (p.Val459Leu) c.372+2617G>T (n.372+2617G>T) | |
| 5 | g.149980968_149980970dup | CA2573052454 | SLC26A2 | c.1375_1377dup (p.Val459_Thr460insVal) c.372+2617_372+2619dup (n.372+2617_372+2619dup) | ClinVar dbSNP |
| 5 | g.149980969T>A | CA361707746 | SLC26A2 | c.1376T>A (p.Val459Glu) c.372+2618T>A (n.372+2618T>A) | |
| 5 | g.149980969T>C | CA129084319 | SLC26A2 | c.1376T>C (p.Val459Ala) c.372+2618T>C (n.372+2618T>C) | dbSNP |