Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |