UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149980944T>A | CA361707691 | SLC26A2 | c.1351T>A (p.Cys451Ser) c.372+2593T>A (n.372+2593T>A) | |
| 5 | g.149980944T>C | CA361707692 | SLC26A2 | c.1351T>C (p.Cys451Arg) c.372+2593T>C (n.372+2593T>C) | |
| 5 | g.149980944T>G | CA361707693 | SLC26A2 | c.1351T>G (p.Cys451Gly) c.372+2593T>G (n.372+2593T>G) | |
| 5 | g.149980945G>A | CA361707695 | SLC26A2 | c.1352G>A (p.Cys451Tyr) c.372+2594G>A (n.372+2594G>A) | |
| 5 | g.149980945G>C | CA361707696 | SLC26A2 | c.1352G>C (p.Cys451Ser) c.372+2594G>C (n.372+2594G>C) | |
| 5 | g.149980945G>T | CA361707694 | SLC26A2 | c.1352G>T (p.Cys451Phe) c.372+2594G>T (n.372+2594G>T) | |
| 5 | g.149980946C>A | CA361707697 | SLC26A2 | c.1353C>A (p.Cys451Ter) c.372+2595C>A (n.372+2595C>A) | |
| 5 | g.149980946C>G | CA361707698 | SLC26A2 | c.1353C>G (p.Cys451Trp) c.372+2595C>G (n.372+2595C>G) | |
| 5 | g.149980946C>T | CA447402523 | SLC26A2 | c.1353C>T (p.Cys451=) c.372+2595C>T (n.372+2595C>T) | ClinVar |
| 5 | g.149980947C>A | CA361707699 | SLC26A2 | c.1354C>A (p.His452Asn) c.372+2596C>A (n.372+2596C>A) | |
| 5 | g.149980947C>G | CA361707700 | SLC26A2 | c.1354C>G (p.His452Asp) c.372+2596C>G (n.372+2596C>G) | |
| 5 | g.149980947C>T | CA361707701 | SLC26A2 | c.1354C>T (p.His452Tyr) c.372+2596C>T (n.372+2596C>T) | |
| 5 | g.149980948A= | CA1590738587 | SLC26A2 | c.1355A= (p.His452=) c.372+2597A= (n.372+2597A=) | |
| 5 | g.149980948A>C | CA361707704 | SLC26A2 | c.1355A>C (p.His452Pro) c.372+2597A>C (n.372+2597A>C) | gnomAD v4 |
| 5 | g.149980948A>G | CA361707702 | SLC26A2 | c.1355A>G (p.His452Arg) c.372+2597A>G (n.372+2597A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980948A>T | CA361707703 | SLC26A2 | c.1355A>T (p.His452Leu) c.372+2597A>T (n.372+2597A>T) | |
| 5 | g.149980949T>A | CA361707705 | SLC26A2 | c.1356T>A (p.His452Gln) c.372+2598T>A (n.372+2598T>A) | |
| 5 | g.149980949T>C | CA447402525 | SLC26A2 | c.1356T>C (p.His452=) c.372+2598T>C (n.372+2598T>C) | gnomAD v4 |
| 5 | g.149980949T>G | CA361707706 | SLC26A2 | c.1356T>G (p.His452Gln) c.372+2598T>G (n.372+2598T>G) | |
| 5 | g.149980950A>C | CA361707707 | SLC26A2 | c.1357A>C (p.Thr453Pro) c.372+2599A>C (n.372+2599A>C) | |
| 5 | g.149980950A>G | CA361707708 | SLC26A2 | c.1357A>G (p.Thr453Ala) c.372+2599A>G (n.372+2599A>G) | |
| 5 | g.149980950A>T | CA361707709 | SLC26A2 | c.1357A>T (p.Thr453Ser) c.372+2599A>T (n.372+2599A>T) | |
| 5 | g.149980951C>A | CA361707710 | SLC26A2 | c.1358C>A (p.Thr453Asn) c.372+2600C>A (n.372+2600C>A) | |
| 5 | g.149980951C>G | CA361707712 | SLC26A2 | c.1358C>G (p.Thr453Ser) c.372+2600C>G (n.372+2600C>G) | |
| 5 | g.149980951C>T | CA361707711 | SLC26A2 | c.1358C>T (p.Thr453Ile) c.372+2600C>T (n.372+2600C>T) | |
| 5 | g.149980952T>A | CA447402526 | SLC26A2 | c.1359T>A (p.Thr453=) c.372+2601T>A (n.372+2601T>A) | |
| 5 | g.149980952T>C | CA447402527 | SLC26A2 | c.1359T>C (p.Thr453=) c.372+2601T>C (n.372+2601T>C) | |
| 5 | g.149980952T>G | CA447402528 | SLC26A2 | c.1359T>G (p.Thr453=) c.372+2601T>G (n.372+2601T>G) | |
| 5 | g.149980953C>A | CA361707713 | SLC26A2 | c.1360C>A (p.Gln454Lys) c.372+2602C>A (n.372+2602C>A) | gnomAD v4 |
| 5 | g.149980953C= | CA1590738588 | SLC26A2 | c.1360C= (p.Gln454=) c.372+2602C= (n.372+2602C=) | |
| 5 | g.149980953C>G | CA361707715 | SLC26A2 | c.1360C>G (p.Gln454Glu) c.372+2602C>G (n.372+2602C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980953C>T | CA361707714 | SLC26A2 | c.1360C>T (p.Gln454Ter) c.372+2602C>T (n.372+2602C>T) | |
| 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 |
| 5 | g.149980969T>G | CA361707747 | SLC26A2 | c.1376T>G (p.Val459Gly) c.372+2618T>G (n.372+2618T>G) | |
| 5 | g.149980969T= | CA1590738591 | SLC26A2 | c.1376T= (p.Val459=) c.372+2618T= (n.372+2618T=) | |
| 5 | g.149980970A>C | CA447402545 | SLC26A2 | c.1377A>C (p.Val459=) c.372+2619A>C (n.372+2619A>C) | |
| 5 | g.149980970A>G | CA447402546 | SLC26A2 | c.1377A>G (p.Val459=) c.372+2619A>G (n.372+2619A>G) | |
| 5 | g.149980970A>T | CA447402547 | SLC26A2 | c.1377A>T (p.Val459=) c.372+2619A>T (n.372+2619A>T) | |
| 5 | g.149980971del | CA2531271766 | SLC26A2 | c.1378del (p.Thr460GlnfsTer10) c.372+2620del (n.372+2620del) | |
| 5 | g.149980971A= | CA1590738592 | SLC26A2 | c.1378A= (p.Thr460=) c.372+2620A= (n.372+2620A=) | |
| 5 | g.149980971A>C | CA361707748 | SLC26A2 | c.1378A>C (p.Thr460Pro) c.372+2620A>C (n.372+2620A>C) | |
| 5 | g.149980971A>G | CA361707749 | SLC26A2 | c.1378A>G (p.Thr460Ala) c.372+2620A>G (n.372+2620A>G) | gnomAD v3 gnomAD v4 |
| 5 | g.149980971A>T | CA3505427 | SLC26A2 | c.1378A>T (p.Thr460Ser) c.372+2620A>T (n.372+2620A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980972C>A | CA361707751 | SLC26A2 | c.1379C>A (p.Thr460Lys) c.372+2621C>A (n.372+2621C>A) | |
| 5 | g.149980972C>G | CA361707752 | SLC26A2 | c.1379C>G (p.Thr460Arg) c.372+2621C>G (n.372+2621C>G) | |
| 5 | g.149980972C>T | CA361707750 | SLC26A2 | c.1379C>T (p.Thr460Ile) c.372+2621C>T (n.372+2621C>T) | |
| 5 | g.149980973A>C | CA447402549 | SLC26A2 | c.1380A>C (p.Thr460=) c.372+2622A>C (n.372+2622A>C) | gnomAD v4 |
| 5 | g.149980973A>G | CA447402550 | SLC26A2 | c.1380A>G (p.Thr460=) c.372+2622A>G (n.372+2622A>G) | |
| 5 | g.149980973A>T | CA447402551 | SLC26A2 | c.1380A>T (p.Thr460=) c.372+2622A>T (n.372+2622A>T) | |
| 5 | g.149980974G>A | CA361707753 | SLC26A2 | c.1381G>A (p.Ala461Thr) c.372+2623G>A (n.372+2623G>A) | |
| 5 | g.149980974G>C | CA361707754 | SLC26A2 | c.1381G>C (p.Ala461Pro) c.372+2623G>C (n.372+2623G>C) | |
| 5 | g.149980974G= | CA1590738593 | SLC26A2 | c.1381G= (p.Ala461=) c.372+2623G= (n.372+2623G=) | |
| 5 | g.149980974G>T | CA3505428 | SLC26A2 | c.1381G>T (p.Ala461Ser) c.372+2623G>T (n.372+2623G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980975C>A | CA361707755 | SLC26A2 | c.1382C>A (p.Ala461Asp) c.372+2624C>A (n.372+2624C>A) | |
| 5 | g.149980975C>G | CA361707756 | SLC26A2 | c.1382C>G (p.Ala461Gly) c.372+2624C>G (n.372+2624C>G) | |
| 5 | g.149980975C>T | CA361707757 | SLC26A2 | c.1382C>T (p.Ala461Val) c.372+2624C>T (n.372+2624C>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980976C>A | CA447402552 | SLC26A2 | c.1383C>A (p.Ala461=) c.372+2625C>A (n.372+2625C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980976C= | CA1590738594 | SLC26A2 | c.1383C= (p.Ala461=) c.372+2625C= (n.372+2625C=) | |
| 5 | g.149980976C>G | CA447402553 | SLC26A2 | c.1383C>G (p.Ala461=) c.372+2625C>G (n.372+2625C>G) | |
| 5 | g.149980976C>T | CA447402554 | SLC26A2 | c.1383C>T (p.Ala461=) c.372+2625C>T (n.372+2625C>T) | |
| 5 | g.149980977C>A | CA361707759 | SLC26A2 | c.1384C>A (p.Leu462Met) c.372+2626C>A (n.372+2626C>A) | |
| 5 | g.149980977C>G | CA361707758 | SLC26A2 | c.1384C>G (p.Leu462Val) c.372+2626C>G (n.372+2626C>G) | gnomAD v4 |
| 5 | g.149980977C>T | CA447402555 | SLC26A2 | c.1384C>T (p.Leu462=) c.372+2626C>T (n.372+2626C>T) | ClinVar gnomAD v4 |
| 5 | g.149980978T>A | CA361707760 | SLC26A2 | c.1385T>A (p.Leu462Gln) c.372+2627T>A (n.372+2627T>A) | |
| 5 | g.149980978T>C | CA361707761 | SLC26A2 | c.1385T>C (p.Leu462Pro) c.372+2627T>C (n.372+2627T>C) | |
| 5 | g.149980978T>G | CA361707762 | SLC26A2 | c.1385T>G (p.Leu462Arg) c.372+2627T>G (n.372+2627T>G) | |
| 5 | g.149980979G>A | CA447402557 | SLC26A2 | c.1386G>A (p.Leu462=) c.372+2628G>A (n.372+2628G>A) | gnomAD v4 |
| 5 | g.149980979G>C | CA447402558 | SLC26A2 | c.1386G>C (p.Leu462=) c.372+2628G>C (n.372+2628G>C) | ClinVar gnomAD v4 |
| 5 | g.149980979G>T | CA447402559 | SLC26A2 | c.1386G>T (p.Leu462=) c.372+2628G>T (n.372+2628G>T) | ClinVar |
| 5 | g.149980980G>A | CA361707763 | SLC26A2 | c.1387G>A (p.Val463Ile) c.372+2629G>A (n.372+2629G>A) | gnomAD v4 |
| 5 | g.149980980G>C | CA361707764 | SLC26A2 | c.1387G>C (p.Val463Leu) c.372+2629G>C (n.372+2629G>C) | |
| 5 | g.149980980G>T | CA361707765 | SLC26A2 | c.1387G>T (p.Val463Phe) c.372+2629G>T (n.372+2629G>T) | |
| 5 | g.149980981T>A | CA361707766 | SLC26A2 | c.1388T>A (p.Val463Asp) c.372+2630T>A (n.372+2630T>A) | |
| 5 | g.149980981T>C | CA361707768 | SLC26A2 | c.1388T>C (p.Val463Ala) c.372+2630T>C (n.372+2630T>C) | |
| 5 | g.149980981T>G | CA361707767 | SLC26A2 | c.1388T>G (p.Val463Gly) c.372+2630T>G (n.372+2630T>G) | |
| 5 | g.149980982T>A | CA447402560 | SLC26A2 | c.1389T>A (p.Val463=) c.372+2631T>A (n.372+2631T>A) | |
| 5 | g.149980982T>C | CA447402561 | SLC26A2 | c.1389T>C (p.Val463=) c.372+2631T>C (n.372+2631T>C) | |
| 5 | g.149980982T>G | CA447402563 | SLC26A2 | c.1389T>G (p.Val463=) c.372+2631T>G (n.372+2631T>G) | |
| 5 | g.149980983C>A | CA361707769 | SLC26A2 | c.1390C>A (p.Leu464Ile) c.372+2632C>A (n.372+2632C>A) | |
| 5 | g.149980983C= | CA1590738595 | SLC26A2 | c.1390C= (p.Leu464=) c.372+2632C= (n.372+2632C=) | |
| 5 | g.149980983C>G | CA361707770 | SLC26A2 | c.1390C>G (p.Leu464Val) c.372+2632C>G (n.372+2632C>G) | |
| 5 | g.149980983C>T | CA361707771 | SLC26A2 | c.1390C>T (p.Leu464Phe) c.372+2632C>T (n.372+2632C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980983_149980984delinsCT | CA1590738596 | SLC26A2 | c.1390_1391delinsCT (p.Leu464=) c.372+2632_372+2633delinsCT (n.372+2632_372+2633delinsCT) | |
| 5 | g.149980984T>A | CA361707772 | SLC26A2 | c.1391T>A (p.Leu464His) c.372+2633T>A (n.372+2633T>A) | |
| 5 | g.149980984T>C | CA361707773 | SLC26A2 | c.1391T>C (p.Leu464Pro) c.372+2633T>C (n.372+2633T>C) | |
| 5 | g.149980984T>G | CA361707774 | SLC26A2 | c.1391T>G (p.Leu464Arg) c.372+2633T>G (n.372+2633T>G) | |
| 5 | g.149980987del | CA263251 | SLC26A2 | c.1394del (p.Leu465CysfsTer5) c.372+2636del (n.372+2636del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980986_149980987del | CA2573139278 | SLC26A2 | c.1393_1394del (p.Leu465ValfsTer?) c.372+2635_372+2636del (n.372+2635_372+2636del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980985T>A | CA447402566 | SLC26A2 | c.1392T>A (p.Leu464=) c.372+2634T>A (n.372+2634T>A) | |
| 5 | g.149980985T>C | CA447402565 | SLC26A2 | c.1392T>C (p.Leu464=) c.372+2634T>C (n.372+2634T>C) | |
| 5 | g.149980985T>G | CA447402564 | SLC26A2 | c.1392T>G (p.Leu464=) c.372+2634T>G (n.372+2634T>G) | |
| 5 | g.149980985_149980988delinsTTTG | CA1590738597 | SLC26A2 | c.1392_1395delinsTTTG (p.Leu464=) c.372+2634_372+2637delinsTTTG (n.372+2634_372+2637delinsTTTG) | |
| 5 | g.149980986T>A | CA361707775 | SLC26A2 | c.1393T>A (p.Leu465Met) c.372+2635T>A (n.372+2635T>A) | |
| 5 | g.149980986T>C | CA447402568 | SLC26A2 | c.1393T>C (p.Leu465=) c.372+2635T>C (n.372+2635T>C) | |
| 5 | g.149980986T>G | CA361707776 | SLC26A2 | c.1393T>G (p.Leu465Val) c.372+2635T>G (n.372+2635T>G) | |
| 5 | g.149980989_149980991del | CA563955700 | SLC26A2 | c.1396_1398del (p.Leu466del) c.372+2638_372+2640del (n.372+2638_372+2640del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980987T>A | CA361707777 | SLC26A2 | c.1394T>A (p.Leu465Ter) c.372+2636T>A (n.372+2636T>A) | |
| 5 | g.149980987T>C | CA361707778 | SLC26A2 | c.1394T>C (p.Leu465Ser) c.372+2636T>C (n.372+2636T>C) | |
| 5 | g.149980987T>G | CA361707779 | SLC26A2 | c.1394T>G (p.Leu465Trp) c.372+2636T>G (n.372+2636T>G) | |
| 5 | g.149980988G>A | CA447402571 | SLC26A2 | c.1395G>A (p.Leu465=) c.372+2637G>A (n.372+2637G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980988G>C | CA361707781 | SLC26A2 | c.1395G>C (p.Leu465Phe) c.372+2637G>C (n.372+2637G>C) | |
| 5 | g.149980988G= | CA1590738598 | SLC26A2 | c.1395G= (p.Leu465=) c.372+2637G= (n.372+2637G=) | |
| 5 | g.149980988G>T | CA361707780 | SLC26A2 | c.1395G>T (p.Leu465Phe) c.372+2637G>T (n.372+2637G>T) | |
| 5 | g.149980989T>A | CA361707782 | SLC26A2 | c.1396T>A (p.Leu466Met) c.372+2638T>A (n.372+2638T>A) | |
| 5 | g.149980989T>C | CA447402572 | SLC26A2 | c.1396T>C (p.Leu466=) c.372+2638T>C (n.372+2638T>C) | dbSNP gnomAD v4 |
| 5 | g.149980989T>G | CA361707783 | SLC26A2 | c.1396T>G (p.Leu466Val) c.372+2638T>G (n.372+2638T>G) | |
| 5 | g.149980989T= | CA1590738599 | SLC26A2 | c.1396T= (p.Leu466=) c.372+2638T= (n.372+2638T=) | |
| 5 | g.149980990dup | CA1590738600 | SLC26A2 | c.1397dup (p.Leu466PhefsTer?) c.372+2639dup (n.372+2639dup) | ClinVar dbSNP |
| 5 | g.149980990T>A | CA361707784 | SLC26A2 | c.1397T>A (p.Leu466Ter) c.372+2639T>A (n.372+2639T>A) | |
| 5 | g.149980990T>C | CA361707785 | SLC26A2 | c.1397T>C (p.Leu466Ser) c.372+2639T>C (n.372+2639T>C) | |
| 5 | g.149980990T>G | CA361707786 | SLC26A2 | c.1397T>G (p.Leu466Trp) c.372+2639T>G (n.372+2639T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980990T= | CA1590738601 | SLC26A2 | c.1397T= (p.Leu466=) c.372+2639T= (n.372+2639T=) | |
| 5 | g.149980991G>A | CA447402574 | SLC26A2 | c.1398G>A (p.Leu466=) c.372+2640G>A (n.372+2640G>A) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980991G>C | CA361707787 | SLC26A2 | c.1398G>C (p.Leu466Phe) c.372+2640G>C (n.372+2640G>C) | |
| 5 | g.149980991G= | CA1590738602 | SLC26A2 | c.1398G= (p.Leu466=) c.372+2640G= (n.372+2640G=) | |
| 5 | g.149980991G>T | CA361707788 | SLC26A2 | c.1398G>T (p.Leu466Phe) c.372+2640G>T (n.372+2640G>T) | |
| 5 | g.149980992G>A | CA3505429 | SLC26A2 | c.1399G>A (p.Val467Ile) c.372+2641G>A (n.372+2641G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980992G>C | CA361707789 | SLC26A2 | c.1399G>C (p.Val467Leu) c.372+2641G>C (n.372+2641G>C) | |
| 5 | g.149980992G= | CA1590738603 | SLC26A2 | c.1399G= (p.Val467=) c.372+2641G= (n.372+2641G=) | |
| 5 | g.149980992G>T | CA361707790 | SLC26A2 | c.1399G>T (p.Val467Phe) c.372+2641G>T (n.372+2641G>T) | |
| 5 | g.149980993T>A | CA361707791 | SLC26A2 | c.1400T>A (p.Val467Asp) c.372+2642T>A (n.372+2642T>A) | |
| 5 | g.149980993T>C | CA361707792 | SLC26A2 | c.1400T>C (p.Val467Ala) c.372+2642T>C (n.372+2642T>C) | |
| 5 | g.149980993T>G | CA361707793 | SLC26A2 | c.1400T>G (p.Val467Gly) c.372+2642T>G (n.372+2642T>G) | |
| 5 | g.149980994C>A | CA447402576 | SLC26A2 | c.1401C>A (p.Val467=) c.372+2643C>A (n.372+2643C>A) | |
| 5 | g.149980994C= | CA1590738604 | SLC26A2 | c.1401C= (p.Val467=) c.372+2643C= (n.372+2643C=) | |
| 5 | g.149980994C>G | CA447402577 | SLC26A2 | c.1401C>G (p.Val467=) c.372+2643C>G (n.372+2643C>G) | dbSNP gnomAD v4 |
| 5 | g.149980994C>T | CA3505430 | SLC26A2 | c.1401C>T (p.Val467=) c.372+2643C>T (n.372+2643C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980995C>A | CA361707794 | SLC26A2 | c.1402C>A (p.Leu468Ile) c.372+2644C>A (n.372+2644C>A) | |
| 5 | g.149980995C= | CA1590738605 | SLC26A2 | c.1402C= (p.Leu468=) c.372+2644C= (n.372+2644C=) | |
| 5 | g.149980995C>G | CA361707795 | SLC26A2 | c.1402C>G (p.Leu468Val) c.372+2644C>G (n.372+2644C>G) | dbSNP gnomAD v4 |
| 5 | g.149980995C>T | CA10619657 | SLC26A2 | c.1402C>T (p.Leu468Phe) c.372+2644C>T (n.372+2644C>T) | ClinVar dbSNP |
| 5 | g.149980996T>A | CA361707796 | SLC26A2 | c.1403T>A (p.Leu468His) c.372+2645T>A (n.372+2645T>A) | |
| 5 | g.149980996T>C | CA361707797 | SLC26A2 | c.1403T>C (p.Leu468Pro) c.372+2645T>C (n.372+2645T>C) | |
| 5 | g.149980996T>G | CA361707798 | SLC26A2 | c.1403T>G (p.Leu468Arg) c.372+2645T>G (n.372+2645T>G) | |
| 5 | g.149980997C>A | CA447402578 | SLC26A2 | c.1404C>A (p.Leu468=) c.372+2646C>A (n.372+2646C>A) | |
| 5 | g.149980997C>G | CA447402579 | SLC26A2 | c.1404C>G (p.Leu468=) c.372+2646C>G (n.372+2646C>G) | |
| 5 | g.149980997C>T | CA447402580 | SLC26A2 | c.1404C>T (p.Leu468=) c.372+2646C>T (n.372+2646C>T) | gnomAD v4 |
| 5 | g.149980998C>A | CA361707799 | SLC26A2 | c.1405C>A (p.Leu469Ile) c.372+2647C>A (n.372+2647C>A) | |
| 5 | g.149980998C= | CA1590738606 | SLC26A2 | c.1405C= (p.Leu469=) c.372+2647C= (n.372+2647C=) | |
| 5 | g.149980998C>G | CA361707800 | SLC26A2 | c.1405C>G (p.Leu469Val) c.372+2647C>G (n.372+2647C>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980998C>T | CA447402581 | SLC26A2 | c.1405C>T (p.Leu469=) c.372+2647C>T (n.372+2647C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980999T>A | CA361707803 | SLC26A2 | c.1406T>A (p.Leu469Gln) c.372+2648T>A (n.372+2648T>A) | |
| 5 | g.149980999T>C | CA361707801 | SLC26A2 | c.1406T>C (p.Leu469Pro) c.372+2648T>C (n.372+2648T>C) | |
| 5 | g.149980999T>G | CA361707802 | SLC26A2 | c.1406T>G (p.Leu469Arg) c.372+2648T>G (n.372+2648T>G) | |
| 5 | g.149981000A>C | CA447402583 | SLC26A2 | c.1407A>C (p.Leu469=) c.372+2649A>C (n.372+2649A>C) | |
| 5 | g.149981000A>G | CA447402586 | SLC26A2 | c.1407A>G (p.Leu469=) c.372+2649A>G (n.372+2649A>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981000A>T | CA447402587 | SLC26A2 | c.1407A>T (p.Leu469=) c.372+2649A>T (n.372+2649A>T) | ClinVar dbSNP |
| 5 | g.149981001G>A | CA361707804 | SLC26A2 | c.1408G>A (p.Val470Ile) c.372+2650G>A (n.372+2650G>A) | |
| 5 | g.149981001G>C | CA361707805 | SLC26A2 | c.1408G>C (p.Val470Leu) c.372+2650G>C (n.372+2650G>C) | dbSNP |
| 5 | g.149981001G= | CA1590738607 | SLC26A2 | c.1408G= (p.Val470=) c.372+2650G= (n.372+2650G=) | |
| 5 | g.149981001G>T | CA361707806 | SLC26A2 | c.1408G>T (p.Val470Leu) c.372+2650G>T (n.372+2650G>T) | |
| 5 | g.149981002T>A | CA361707807 | SLC26A2 | c.1409T>A (p.Val470Glu) c.372+2651T>A (n.372+2651T>A) | |
| 5 | g.149981002T>C | CA361707808 | SLC26A2 | c.1409T>C (p.Val470Ala) c.372+2651T>C (n.372+2651T>C) | |
| 5 | g.149981002T>G | CA361707809 | SLC26A2 | c.1409T>G (p.Val470Gly) c.372+2651T>G (n.372+2651T>G) | |
| 5 | g.149981003A= | CA1590738608 | SLC26A2 | c.1410A= (p.Val470=) c.372+2652A= (n.372+2652A=) | |
| 5 | g.149981003A>C | CA447402591 | SLC26A2 | c.1410A>C (p.Val470=) c.372+2652A>C (n.372+2652A>C) | gnomAD v4 |
| 5 | g.149981003A>G | CA3505431 | SLC26A2 | c.1410A>G (p.Val470=) c.372+2652A>G (n.372+2652A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981003A>T | CA447402592 | SLC26A2 | c.1410A>T (p.Val470=) c.372+2652A>T (n.372+2652A>T) | |
| 5 | g.149981004A= | CA1590738609 | SLC26A2 | c.1411A= (p.Ile471=) c.372+2653A= (n.372+2653A=) | |
| 5 | g.149981004A>C | CA361707812 | SLC26A2 | c.1411A>C (p.Ile471Leu) c.372+2653A>C (n.372+2653A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981004A>G | CA361707810 | SLC26A2 | c.1411A>G (p.Ile471Val) c.372+2653A>G (n.372+2653A>G) | |
| 5 | g.149981004A>T | CA361707811 | SLC26A2 | c.1411A>T (p.Ile471Leu) c.372+2653A>T (n.372+2653A>T) | |
| 5 | g.149981005T>A | CA361707813 | SLC26A2 | c.1412T>A (p.Ile471Lys) c.372+2654T>A (n.372+2654T>A) | |
| 5 | g.149981005T>C | CA361707814 | SLC26A2 | c.1412T>C (p.Ile471Thr) c.372+2654T>C (n.372+2654T>C) | |
| 5 | g.149981005T>G | CA361707815 | SLC26A2 | c.1412T>G (p.Ile471Arg) c.372+2654T>G (n.372+2654T>G) | |
| 5 | g.149981006A>C | CA447402593 | SLC26A2 | c.1413A>C (p.Ile471=) c.372+2655A>C (n.372+2655A>C) | |
| 5 | g.149981006A>G | CA361707816 | SLC26A2 | c.1413A>G (p.Ile471Met) c.372+2655A>G (n.372+2655A>G) | |
| 5 | g.149981006A>T | CA447402594 | SLC26A2 | c.1413A>T (p.Ile471=) c.372+2655A>T (n.372+2655A>T) | |
| 5 | g.149981007G>A | CA361707819 | SLC26A2 | c.1414G>A (p.Ala472Thr) c.372+2656G>A (n.372+2656G>A) | dbSNP |
| 5 | g.149981007G>C | CA361707818 | SLC26A2 | c.1414G>C (p.Ala472Pro) c.372+2656G>C (n.372+2656G>C) | |
| 5 | g.149981007G= | CA1590738610 | SLC26A2 | c.1414G= (p.Ala472=) c.372+2656G= (n.372+2656G=) | |
| 5 | g.149981007G>T | CA361707817 | SLC26A2 | c.1414G>T (p.Ala472Ser) c.372+2656G>T (n.372+2656G>T) | |
| 5 | g.149981008C>A | CA361707820 | SLC26A2 | c.1415C>A (p.Ala472Asp) c.372+2657C>A (n.372+2657C>A) | |
| 5 | g.149981008C>G | CA361707821 | SLC26A2 | c.1415C>G (p.Ala472Gly) c.372+2657C>G (n.372+2657C>G) | |
| 5 | g.149981008C>T | CA361707822 | SLC26A2 | c.1415C>T (p.Ala472Val) c.372+2657C>T (n.372+2657C>T) | |
| 5 | g.149981009T>A | CA447402596 | SLC26A2 | c.1416T>A (p.Ala472=) c.372+2658T>A (n.372+2658T>A) | ClinVar |
| 5 | g.149981009T>C | CA447402597 | SLC26A2 | c.1416T>C (p.Ala472=) c.372+2658T>C (n.372+2658T>C) | |
| 5 | g.149981009T>G | CA447402598 | SLC26A2 | c.1416T>G (p.Ala472=) c.372+2658T>G (n.372+2658T>G) | |
| 5 | g.149981010C>A | CA361707823 | SLC26A2 | c.1417C>A (p.Pro473Thr) c.372+2659C>A (n.372+2659C>A) | |
| 5 | g.149981010C>G | CA361707824 | SLC26A2 | c.1417C>G (p.Pro473Ala) c.372+2659C>G (n.372+2659C>G) | gnomAD v4 |
| 5 | g.149981010C>T | CA361707825 | SLC26A2 | c.1417C>T (p.Pro473Ser) c.372+2659C>T (n.372+2659C>T) | |
| 5 | g.149981011C>A | CA361707826 | SLC26A2 | c.1418C>A (p.Pro473His) c.372+2660C>A (n.372+2660C>A) | |
| 5 | g.149981011C= | CA1590738612 | SLC26A2 | c.1418C= (p.Pro473=) c.372+2660C= (n.372+2660C=) | |
| 5 | g.149981011C>G | CA361707828 | SLC26A2 | c.1418C>G (p.Pro473Arg) c.372+2660C>G (n.372+2660C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981011C>T | CA361707827 | SLC26A2 | c.1418C>T (p.Pro473Leu) c.372+2660C>T (n.372+2660C>T) | ClinVar COSMIC |
| 5 | g.149981011_149981012delinsCT | CA1590738611 | SLC26A2 | c.1418_1419delinsCT (p.Pro473=) c.372+2660_372+2661delinsCT (n.372+2660_372+2661delinsCT) | |
| 5 | g.149981012T>A | CA447402603 | SLC26A2 | c.1419T>A (p.Pro473=) c.372+2661T>A (n.372+2661T>A) | |
| 5 | g.149981012T>C | CA447402602 | SLC26A2 | c.1419T>C (p.Pro473=) c.372+2661T>C (n.372+2661T>C) | gnomAD v4 |
| 5 | g.149981012T>G | CA447402604 | SLC26A2 | c.1419T>G (p.Pro473=) c.372+2661T>G (n.372+2661T>G) | |
| 5 | g.149981014del | CA3505432 | SLC26A2 | c.1421del (p.Leu474CysfsTer12) c.372+2663del (n.372+2663del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981013T>A | CA361707829 | SLC26A2 | c.1420T>A (p.Leu474Met) c.372+2662T>A (n.372+2662T>A) | |
| 5 | g.149981013T>C | CA447402605 | SLC26A2 | c.1420T>C (p.Leu474=) c.372+2662T>C (n.372+2662T>C) | |
| 5 | g.149981013T>G | CA361707830 | SLC26A2 | c.1420T>G (p.Leu474Val) c.372+2662T>G (n.372+2662T>G) | |
| 5 | g.149981014T>A | CA361707831 | SLC26A2 | c.1421T>A (p.Leu474Ter) c.372+2663T>A (n.372+2663T>A) | |
| 5 | g.149981014T>C | CA3505433 | SLC26A2 | c.1421T>C (p.Leu474Ser) c.372+2663T>C (n.372+2663T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981014T>G | CA361707832 | SLC26A2 | c.1421T>G (p.Leu474Trp) c.372+2663T>G (n.372+2663T>G) | |
| 5 | g.149981014T= | CA1590738613 | SLC26A2 | c.1421T= (p.Leu474=) c.372+2663T= (n.372+2663T=) | |
| 5 | g.149981015G>A | CA447402609 | SLC26A2 | c.1422G>A (p.Leu474=) c.372+2664G>A (n.372+2664G>A) | gnomAD v4 |
| 5 | g.149981015G>C | CA3505434 | SLC26A2 | c.1422G>C (p.Leu474Phe) c.372+2664G>C (n.372+2664G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981015G= | CA1590738614 | SLC26A2 | c.1422G= (p.Leu474=) c.372+2664G= (n.372+2664G=) | |
| 5 | g.149981015G>T | CA361707833 | SLC26A2 | c.1422G>T (p.Leu474Phe) c.372+2664G>T (n.372+2664G>T) | gnomAD v4 |
| 5 | g.149981016T>A | CA361707834 | SLC26A2 | c.1423T>A (p.Phe475Ile) c.372+2665T>A (n.372+2665T>A) | |
| 5 | g.149981016T>C | CA361707835 | SLC26A2 | c.1423T>C (p.Phe475Leu) c.372+2665T>C (n.372+2665T>C) | ClinVar |
| 5 | g.149981016T>G | CA361707836 | SLC26A2 | c.1423T>G (p.Phe475Val) c.372+2665T>G (n.372+2665T>G) | |
| 5 | g.149981017T>A | CA361707837 | SLC26A2 | c.1424T>A (p.Phe475Tyr) c.372+2666T>A (n.372+2666T>A) | |
| 5 | g.149981017T>C | CA361707839 | SLC26A2 | c.1424T>C (p.Phe475Ser) c.372+2666T>C (n.372+2666T>C) | |
| 5 | g.149981017T>G | CA361707838 | SLC26A2 | c.1424T>G (p.Phe475Cys) c.372+2666T>G (n.372+2666T>G) | |
| 5 | g.149981018C>A | CA361707840 | SLC26A2 | c.1425C>A (p.Phe475Leu) c.372+2667C>A (n.372+2667C>A) | |
| 5 | g.149981018C>G | CA361707841 | SLC26A2 | c.1425C>G (p.Phe475Leu) c.372+2667C>G (n.372+2667C>G) | |
| 5 | g.149981018C>T | CA447402611 | SLC26A2 | c.1425C>T (p.Phe475=) c.372+2667C>T (n.372+2667C>T) | |
| 5 | g.149981019T>A | CA361707842 | SLC26A2 | c.1426T>A (p.Tyr476Asn) c.372+2668T>A (n.372+2668T>A) | |
| 5 | g.149981019T>C | CA361707844 | SLC26A2 | c.1426T>C (p.Tyr476His) c.372+2668T>C (n.372+2668T>C) | |
| 5 | g.149981019T>G | CA361707843 | SLC26A2 | c.1426T>G (p.Tyr476Asp) c.372+2668T>G (n.372+2668T>G) | |
| 5 | g.149981020A= | CA1590738615 | SLC26A2 | c.1427A= (p.Tyr476=) c.372+2669A= (n.372+2669A=) | |
| 5 | g.149981020A>C | CA3505436 | SLC26A2 | c.1427A>C (p.Tyr476Ser) c.372+2669A>C (n.372+2669A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981020A>G | CA3505435 | SLC26A2 | c.1427A>G (p.Tyr476Cys) c.372+2669A>G (n.372+2669A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981020A>T | CA361707845 | SLC26A2 | c.1427A>T (p.Tyr476Phe) c.372+2669A>T (n.372+2669A>T) | |
| 5 | g.149981021T>A | CA361707846 | SLC26A2 | c.1428T>A (p.Tyr476Ter) c.372+2670T>A (n.372+2670T>A) | |
| 5 | g.149981021T>C | CA447402612 | SLC26A2 | c.1428T>C (p.Tyr476=) c.372+2670T>C (n.372+2670T>C) | dbSNP gnomAD v4 |
| 5 | g.149981021T>G | CA361707847 | SLC26A2 | c.1428T>G (p.Tyr476Ter) c.372+2670T>G (n.372+2670T>G) | ClinVar |
| 5 | g.149981021T= | CA1590738616 | SLC26A2 | c.1428T= (p.Tyr476=) c.372+2670T= (n.372+2670T=) | |
| 5 | g.149981022T>A | CA361707848 | SLC26A2 | c.1429T>A (p.Ser477Thr) c.372+2671T>A (n.372+2671T>A) | |
| 5 | g.149981022T>C | CA361707849 | SLC26A2 | c.1429T>C (p.Ser477Pro) c.372+2671T>C (n.372+2671T>C) | |
| 5 | g.149981022T>G | CA361707850 | SLC26A2 | c.1429T>G (p.Ser477Ala) c.372+2671T>G (n.372+2671T>G) | |
| 5 | g.149981022_149981023delinsTC | CA1590738617 | SLC26A2 | c.1429_1430delinsTC (p.Ser477=) c.372+2671_372+2672delinsTC (n.372+2671_372+2672delinsTC) | |
| 5 | g.149981023C>A | CA361707851 | SLC26A2 | c.1430C>A (p.Ser477Tyr) c.372+2672C>A (n.372+2672C>A) | |
| 5 | g.149981023C= | CA1590738618 | SLC26A2 | c.1430C= (p.Ser477=) c.372+2672C= (n.372+2672C=) | |
| 5 | g.149981023C>G | CA3505437 | SLC26A2 | c.1430C>G (p.Ser477Cys) c.372+2672C>G (n.372+2672C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981023C>T | CA361707852 | SLC26A2 | c.1430C>T (p.Ser477Phe) c.372+2672C>T (n.372+2672C>T) | gnomAD v4 |
| 5 | g.149981025del | CA916082299 | SLC26A2 | c.1432del (p.Leu478PhefsTer8) c.372+2674del (n.372+2674del) | ClinVar dbSNP |
| 5 | g.149981024C>A | CA447402616 | SLC26A2 | c.1431C>A (p.Ser477=) c.372+2673C>A (n.372+2673C>A) | |
| 5 | g.149981024C>G | CA447402618 | SLC26A2 | c.1431C>G (p.Ser477=) c.372+2673C>G (n.372+2673C>G) | |
| 5 | g.149981024C>T | CA447402619 | SLC26A2 | c.1431C>T (p.Ser477=) c.372+2673C>T (n.372+2673C>T) | COSMIC |
| 5 | g.149981025C>A | CA361707855 | SLC26A2 | c.1432C>A (p.Leu478Ile) c.372+2674C>A (n.372+2674C>A) | |
| 5 | g.149981025C>G | CA361707853 | SLC26A2 | c.1432C>G (p.Leu478Val) c.372+2674C>G (n.372+2674C>G) | |
| 5 | g.149981025C>T | CA361707854 | SLC26A2 | c.1432C>T (p.Leu478Phe) c.372+2674C>T (n.372+2674C>T) | COSMIC |
| 5 | g.149981026T>A | CA361707856 | SLC26A2 | c.1433T>A (p.Leu478His) c.372+2675T>A (n.372+2675T>A) | |
| 5 | g.149981026T>C | CA361707857 | SLC26A2 | c.1433T>C (p.Leu478Pro) c.372+2675T>C (n.372+2675T>C) | |
| 5 | g.149981026T>G | CA361707858 | SLC26A2 | c.1433T>G (p.Leu478Arg) c.372+2675T>G (n.372+2675T>G) | |
| 5 | g.149981027T>A | CA447402622 | SLC26A2 | c.1434T>A (p.Leu478=) c.372+2676T>A (n.372+2676T>A) | |
| 5 | g.149981027T>C | CA447402621 | SLC26A2 | c.1434T>C (p.Leu478=) c.372+2676T>C (n.372+2676T>C) | |
| 5 | g.149981027T>G | CA447402620 | SLC26A2 | c.1434T>G (p.Leu478=) c.372+2676T>G (n.372+2676T>G) | |
| 5 | g.149981028C>A | CA361707859 | SLC26A2 | c.1435C>A (p.Gln479Lys) c.372+2677C>A (n.372+2677C>A) | |
| 5 | g.149981028C= | CA1590738620 | SLC26A2 | c.1435C= (p.Gln479=) c.372+2677C= (n.372+2677C=) | |
| 5 | g.149981028C>G | CA361707860 | SLC26A2 | c.1435C>G (p.Gln479Glu) c.372+2677C>G (n.372+2677C>G) | |
| 5 | g.149981028C>T | CA361707861 | SLC26A2 | c.1435C>T (p.Gln479Ter) c.372+2677C>T (n.372+2677C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981028_149981029del | CA913108427 | SLC26A2 | c.1435_1436del (p.Gln479LysfsTer18) c.372+2677_372+2678del (n.372+2677_372+2678del) | |
| 5 | g.149981028_149981029delinsCA | CA1590738619 | SLC26A2 | c.1435_1436delinsCA (p.Gln479=) c.372+2677_372+2678delinsCA (n.372+2677_372+2678delinsCA) | |
| 5 | g.149981029A>C | CA361707862 | SLC26A2 | c.1436A>C (p.Gln479Pro) c.372+2678A>C (n.372+2678A>C) | |
| 5 | g.149981029A>G | CA361707863 | SLC26A2 | c.1436A>G (p.Gln479Arg) c.372+2678A>G (n.372+2678A>G) | |
| 5 | g.149981029A>T | CA361707864 | SLC26A2 | c.1436A>T (p.Gln479Leu) c.372+2678A>T (n.372+2678A>T) | |
| 5 | g.149981034dup | CA805530982 | SLC26A2 | c.1441dup (p.Ser481LysfsTer17) c.372+2683dup (n.372+2683dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981034del | CA3505438 | SLC26A2 | c.1441del (p.Ser481ValfsTer5) c.372+2683del (n.372+2683del) | ClinVar dbSNP ExAC |
| 5 | g.149981030A= | CA1590738621 | SLC26A2 | c.1437A= (p.Gln479=) c.372+2679A= (n.372+2679A=) | |
| 5 | g.149981030A>C | CA361707866 | SLC26A2 | c.1437A>C (p.Gln479His) c.372+2679A>C (n.372+2679A>C) | |
| 5 | g.149981030A>G | CA3505439 | SLC26A2 | c.1437A>G (p.Gln479=) c.372+2679A>G (n.372+2679A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981030A>T | CA361707865 | SLC26A2 | c.1437A>T (p.Gln479His) c.372+2679A>T (n.372+2679A>T) | |
| 5 | g.149981031A>C | CA361707867 | SLC26A2 | c.1438A>C (p.Lys480Gln) c.372+2680A>C (n.372+2680A>C) | |
| 5 | g.149981031A>G | CA361707868 | SLC26A2 | c.1438A>G (p.Lys480Glu) c.372+2680A>G (n.372+2680A>G) | |
| 5 | g.149981031A>T | CA361707869 | SLC26A2 | c.1438A>T (p.Lys480Ter) c.372+2680A>T (n.372+2680A>T) | |
| 5 | g.149981032A= | CA1590738622 | SLC26A2 | c.1439A= (p.Lys480=) c.372+2681A= (n.372+2681A=) | |
| 5 | g.149981032A>C | CA361707870 | SLC26A2 | c.1439A>C (p.Lys480Thr) c.372+2681A>C (n.372+2681A>C) | |
| 5 | g.149981032A>G | CA3505440 | SLC26A2 | c.1439A>G (p.Lys480Arg) c.372+2681A>G (n.372+2681A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981032A>T | CA361707871 | SLC26A2 | c.1439A>T (p.Lys480Ile) c.372+2681A>T (n.372+2681A>T) | |
| 5 | g.149981033A>C | CA361707872 | SLC26A2 | c.1440A>C (p.Lys480Asn) c.372+2682A>C (n.372+2682A>C) | |
| 5 | g.149981033A>G | CA447402629 | SLC26A2 | c.1440A>G (p.Lys480=) c.372+2682A>G (n.372+2682A>G) | gnomAD v4 |
| 5 | g.149981033A>T | CA361707873 | SLC26A2 | c.1440A>T (p.Lys480Asn) c.372+2682A>T (n.372+2682A>T) | |
| 5 | g.149981034A>C | CA361707874 | SLC26A2 | c.1441A>C (p.Ser481Arg) c.372+2683A>C (n.372+2683A>C) | |
| 5 | g.149981034A>G | CA361707875 | SLC26A2 | c.1441A>G (p.Ser481Gly) c.372+2683A>G (n.372+2683A>G) | |
| 5 | g.149981034A>T | CA361707876 | SLC26A2 | c.1441A>T (p.Ser481Cys) c.372+2683A>T (n.372+2683A>T) | COSMIC |
| 5 | g.149981035G>A | CA361707878 | SLC26A2 | c.1442G>A (p.Ser481Asn) c.372+2684G>A (n.372+2684G>A) | |
| 5 | g.149981035G>C | CA361707879 | SLC26A2 | c.1442G>C (p.Ser481Thr) c.372+2684G>C (n.372+2684G>C) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981035G= | CA1590738623 | SLC26A2 | c.1442G= (p.Ser481=) c.372+2684G= (n.372+2684G=) | |
| 5 | g.149981035G>T | CA361707877 | SLC26A2 | c.1442G>T (p.Ser481Ile) c.372+2684G>T (n.372+2684G>T) | |
| 5 | g.149981036T>A | CA361707880 | SLC26A2 | c.1443T>A (p.Ser481Arg) c.372+2685T>A (n.372+2685T>A) | |
| 5 | g.149981036T>C | CA129084376 | SLC26A2 | c.1443T>C (p.Ser481=) c.372+2685T>C (n.372+2685T>C) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981036T>G | CA361707881 | SLC26A2 | c.1443T>G (p.Ser481Arg) c.372+2685T>G (n.372+2685T>G) | |
| 5 | g.149981036T= | CA1590738624 | SLC26A2 | c.1443T= (p.Ser481=) c.372+2685T= (n.372+2685T=) | |
| 5 | g.149981037G>A | CA361707882 | SLC26A2 | c.1444G>A (p.Val482Ile) c.372+2686G>A (n.372+2686G>A) | |
| 5 | g.149981037G>C | CA361707883 | SLC26A2 | c.1444G>C (p.Val482Leu) c.372+2686G>C (n.372+2686G>C) | |
| 5 | g.149981037G>T | CA361707884 | SLC26A2 | c.1444G>T (p.Val482Phe) c.372+2686G>T (n.372+2686G>T) | |
| 5 | g.149981038T>A | CA361707887 | SLC26A2 | c.1445T>A (p.Val482Asp) c.372+2687T>A (n.372+2687T>A) | |
| 5 | g.149981038T>C | CA361707885 | SLC26A2 | c.1445T>C (p.Val482Ala) c.372+2687T>C (n.372+2687T>C) | gnomAD v4 |
| 5 | g.149981038T>G | CA361707886 | SLC26A2 | c.1445T>G (p.Val482Gly) c.372+2687T>G (n.372+2687T>G) | |
| 5 | g.149981039C>A | CA447402637 | SLC26A2 | c.1446C>A (p.Val482=) c.372+2688C>A (n.372+2688C>A) | |
| 5 | g.149981039C>G | CA447402638 | SLC26A2 | c.1446C>G (p.Val482=) c.372+2688C>G (n.372+2688C>G) | |
| 5 | g.149981039C>T | CA447402639 | SLC26A2 | c.1446C>T (p.Val482=) c.372+2688C>T (n.372+2688C>T) | ClinVar gnomAD v4 |
| 5 | g.149981040del | CA2675943651 | SLC26A2 | c.1447del (p.Gly484ValfsTer2) c.372+2689del (n.372+2689del) | gnomAD v4 |
| 5 | g.149981040C>A | CA361707888 | SLC26A2 | c.1447C>A (p.Leu483Ile) c.372+2689C>A (n.372+2689C>A) | gnomAD v4 |
| 5 | g.149981040C>G | CA361707889 | SLC26A2 | c.1447C>G (p.Leu483Val) c.372+2689C>G (n.372+2689C>G) | |
| 5 | g.149981040C>T | CA361707890 | SLC26A2 | c.1447C>T (p.Leu483Phe) c.372+2689C>T (n.372+2689C>T) | ClinVar |
| 5 | g.149981041T>A | CA361707891 | SLC26A2 | c.1448T>A (p.Leu483His) c.372+2690T>A (n.372+2690T>A) | |
| 5 | g.149981041T>C | CA361707892 | SLC26A2 | c.1448T>C (p.Leu483Pro) c.372+2690T>C (n.372+2690T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981041T>G | CA361707893 | SLC26A2 | c.1448T>G (p.Leu483Arg) c.372+2690T>G (n.372+2690T>G) | |
| 5 | g.149981041T= | CA1590738625 | SLC26A2 | c.1448T= (p.Leu483=) c.372+2690T= (n.372+2690T=) | |
| 5 | g.149981042T>A | CA447402643 | SLC26A2 | c.1449T>A (p.Leu483=) c.372+2691T>A (n.372+2691T>A) | |
| 5 | g.149981042T>C | CA447402644 | SLC26A2 | c.1449T>C (p.Leu483=) c.372+2691T>C (n.372+2691T>C) | |
| 5 | g.149981042T>G | CA447402645 | SLC26A2 | c.1449T>G (p.Leu483=) c.372+2691T>G (n.372+2691T>G) | |
| 5 | g.149981043G>A | CA361707895 | SLC26A2 | c.1450G>A (p.Gly484Ser) c.372+2692G>A (n.372+2692G>A) | gnomAD v4 |
| 5 | g.149981043G>C | CA361707896 | SLC26A2 | c.1450G>C (p.Gly484Arg) c.372+2692G>C (n.372+2692G>C) | |
| 5 | g.149981043G>T | CA361707894 | SLC26A2 | c.1450G>T (p.Gly484Cys) c.372+2692G>T (n.372+2692G>T) | |
| 5 | g.149981044G>A | CA263252 | SLC26A2 | c.1451G>A (p.Gly484Asp) c.372+2693G>A (n.372+2693G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981044G>C | CA361707897 | SLC26A2 | c.1451G>C (p.Gly484Ala) c.372+2693G>C (n.372+2693G>C) | |
| 5 | g.149981044G= | CA1590738626 | SLC26A2 | c.1451G= (p.Gly484=) c.372+2693G= (n.372+2693G=) | |
| 5 | g.149981044G>T | CA361707898 | SLC26A2 | c.1451G>T (p.Gly484Val) c.372+2693G>T (n.372+2693G>T) |