Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56879083_56879095del | CA2695223428 | SLC12A3 | c.1191_1203del (p.Val398LeufsTer4) c.1188_1200del (p.Val397LeufsTer4) | |
16 | g.56879088_56879094dup | CA8069394 | SLC12A3 | c.1196_1202dup (p.Ser402Ter) c.1193_1199dup (p.Ser401Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879090G>A | CA8069400 | SLC12A3 | c.1198G>A (p.Asp400Asn) c.1195G>A (p.Asp399Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879090G>C | CA395985595 | SLC12A3 | c.1198G>C (p.Asp400His) c.1195G>C (p.Asp399His) | |
16 | g.56879090G= | CA2224353736 | SLC12A3 | c.1198G= (p.Asp400=) c.1195G= (p.Asp399=) | |
16 | g.56879090G>T | CA395985598 | SLC12A3 | c.1198G>T (p.Asp400Tyr) c.1195G>T (p.Asp399Tyr) | |
16 | g.56879091A>C | CA395985600 | SLC12A3 | c.1199A>C (p.Asp400Ala) c.1196A>C (p.Asp399Ala) | |
16 | g.56879091A>G | CA395985602 | SLC12A3 | c.1199A>G (p.Asp400Gly) c.1196A>G (p.Asp399Gly) | |
16 | g.56879091A>T | CA395985604 | SLC12A3 | c.1199A>T (p.Asp400Val) c.1196A>T (p.Asp399Val) | |
16 | g.56879092T>A | CA395985608 | SLC12A3 | c.1200T>A (p.Asp400Glu) c.1197T>A (p.Asp399Glu) | |
16 | g.56879092T>C | CA8069401 | SLC12A3 | c.1200T>C (p.Asp400=) c.1197T>C (p.Asp399=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879092T>G | CA395985606 | SLC12A3 | c.1200T>G (p.Asp400Glu) c.1197T>G (p.Asp399Glu) | |
16 | g.56879092T= | CA2224353737 | SLC12A3 | c.1200T= (p.Asp400=) c.1197T= (p.Asp399=) | |
16 | g.56879093G>A | CA395985611 | SLC12A3 | c.1201G>A (p.Ala401Thr) c.1198G>A (p.Ala400Thr) | |
16 | g.56879093G>C | CA395985613 | SLC12A3 | c.1201G>C (p.Ala401Pro) c.1198G>C (p.Ala400Pro) | |
16 | g.56879093G>T | CA395985615 | SLC12A3 | c.1201G>T (p.Ala401Ser) c.1198G>T (p.Ala400Ser) | |
16 | g.56879094C>A | CA395985617 | SLC12A3 | c.1202C>A (p.Ala401Asp) c.1199C>A (p.Ala400Asp) | gnomAD v4 |
16 | g.56879094C>G | CA395985621 | SLC12A3 | c.1202C>G (p.Ala401Gly) c.1199C>G (p.Ala400Gly) | |
16 | g.56879094C>T | CA395985623 | SLC12A3 | c.1202C>T (p.Ala401Val) c.1199C>T (p.Ala400Val) | gnomAD v4 |
16 | g.56879095C>A | CA495603677 | SLC12A3 | c.1203C>A (p.Ala401=) c.1200C>A (p.Ala400=) | |
16 | g.56879095C>G | CA495603679 | SLC12A3 | c.1203C>G (p.Ala401=) c.1200C>G (p.Ala400=) | |
16 | g.56879095C>T | CA495603678 | SLC12A3 | c.1203C>T (p.Ala401=) c.1200C>T (p.Ala400=) | |
16 | g.56879096T>A | CA395985626 | SLC12A3 | c.1204T>A (p.Ser402Thr) c.1201T>A (p.Ser401Thr) | |
16 | g.56879096T>C | CA395985627 | SLC12A3 | c.1204T>C (p.Ser402Pro) c.1201T>C (p.Ser401Pro) | |
16 | g.56879096T>G | CA395985629 | SLC12A3 | c.1204T>G (p.Ser402Ala) c.1201T>G (p.Ser401Ala) | |
16 | g.56879097C>A | CA395985632 | SLC12A3 | c.1205C>A (p.Ser402Tyr) c.1202C>A (p.Ser401Tyr) | |
16 | g.56879097C>G | CA395985635 | SLC12A3 | c.1205C>G (p.Ser402Cys) c.1202C>G (p.Ser401Cys) | |
16 | g.56879097C>T | CA395985636 | SLC12A3 | c.1205C>T (p.Ser402Phe) c.1202C>T (p.Ser401Phe) | COSMIC |
16 | g.56879098T>A | CA495603680 | SLC12A3 | c.1206T>A (p.Ser402=) c.1203T>A (p.Ser401=) | |
16 | g.56879098T>C | CA495603681 | SLC12A3 | c.1206T>C (p.Ser402=) c.1203T>C (p.Ser401=) | |
16 | g.56879098T>G | CA495603682 | SLC12A3 | c.1206T>G (p.Ser402=) c.1203T>G (p.Ser401=) | |
16 | g.56879099G>A | CA395985638 | SLC12A3 | c.1207G>A (p.Gly403Arg) c.1204G>A (p.Gly402Arg) | |
16 | g.56879099G>C | CA395985641 | SLC12A3 | c.1207G>C (p.Gly403Arg) c.1204G>C (p.Gly402Arg) | |
16 | g.56879099G>T | CA395985639 | SLC12A3 | c.1207G>T (p.Gly403Trp) c.1204G>T (p.Gly402Trp) | |
16 | g.56879100G>A | CA395985644 | SLC12A3 | c.1208G>A (p.Gly403Glu) c.1205G>A (p.Gly402Glu) | |
16 | g.56879100G>C | CA395985646 | SLC12A3 | c.1208G>C (p.Gly403Ala) c.1205G>C (p.Gly402Ala) | |
16 | g.56879100G>T | CA395985648 | SLC12A3 | c.1208G>T (p.Gly403Val) c.1205G>T (p.Gly402Val) | gnomAD v4 |
16 | g.56879101G>A | CA281501172 | SLC12A3 | c.1209G>A (p.Gly403=) c.1206G>A (p.Gly402=) | ClinVar dbSNP gnomAD v4 |
16 | g.56879101G>C | CA495603683 | SLC12A3 | c.1209G>C (p.Gly403=) c.1206G>C (p.Gly402=) | |
16 | g.56879101G= | CA2224353738 | SLC12A3 | c.1209G= (p.Gly403=) c.1206G= (p.Gly402=) | |
16 | g.56879101G>T | CA495603684 | SLC12A3 | c.1209G>T (p.Gly403=) c.1206G>T (p.Gly402=) | |
16 | g.56879102G>A | CA8069402 | SLC12A3 | c.1210G>A (p.Val404Ile) c.1207G>A (p.Val403Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879102G>C | CA395985652 | SLC12A3 | c.1210G>C (p.Val404Leu) c.1207G>C (p.Val403Leu) | |
16 | g.56879102G= | CA2224353739 | SLC12A3 | c.1210G= (p.Val404=) c.1207G= (p.Val403=) | |
16 | g.56879102G>T | CA395985653 | SLC12A3 | c.1210G>T (p.Val404Phe) c.1207G>T (p.Val403Phe) | |
16 | g.56879103T>A | CA395985657 | SLC12A3 | c.1211T>A (p.Val404Asp) c.1208T>A (p.Val403Asp) | |
16 | g.56879103T>C | CA395985658 | SLC12A3 | c.1211T>C (p.Val404Ala) c.1208T>C (p.Val403Ala) | |
16 | g.56879103T>G | CA395985660 | SLC12A3 | c.1211T>G (p.Val404Gly) c.1208T>G (p.Val403Gly) | |
16 | g.56879104C>A | CA495603685 | SLC12A3 | c.1212C>A (p.Val404=) c.1209C>A (p.Val403=) | |
16 | g.56879104C= | CA2224353740 | SLC12A3 | c.1212C= (p.Val404=) c.1209C= (p.Val403=) | |
16 | g.56879104C>G | CA495603686 | SLC12A3 | c.1212C>G (p.Val404=) c.1209C>G (p.Val403=) | ClinVar dbSNP |
16 | g.56879104C>T | CA495603687 | SLC12A3 | c.1212C>T (p.Val404=) c.1209C>T (p.Val403=) | ClinVar dbSNP |
16 | g.56879105C>A | CA395985662 | SLC12A3 | c.1213C>A (p.Leu405Met) c.1210C>A (p.Leu404Met) | |
16 | g.56879105C>G | CA395985664 | SLC12A3 | c.1213C>G (p.Leu405Val) c.1210C>G (p.Leu404Val) | |
16 | g.56879105C>T | CA495603688 | SLC12A3 | c.1213C>T (p.Leu405=) c.1210C>T (p.Leu404=) | |
16 | g.56879106T>A | CA395985670 | SLC12A3 | c.1214T>A (p.Leu405Gln) c.1211T>A (p.Leu404Gln) | |
16 | g.56879106T>C | CA395985666 | SLC12A3 | c.1214T>C (p.Leu405Pro) c.1211T>C (p.Leu404Pro) | gnomAD v4 |
16 | g.56879106T>G | CA395985668 | SLC12A3 | c.1214T>G (p.Leu405Arg) c.1211T>G (p.Leu404Arg) | |
16 | g.56879107G>A | CA495603689 | SLC12A3 | c.1215G>A (p.Leu405=) c.1212G>A (p.Leu404=) | |
16 | g.56879107G>C | CA495603690 | SLC12A3 | c.1215G>C (p.Leu405=) c.1212G>C (p.Leu404=) | |
16 | g.56879107G>T | CA495603691 | SLC12A3 | c.1215G>T (p.Leu405=) c.1212G>T (p.Leu404=) | |
16 | g.56879108A= | CA2224353741 | SLC12A3 | c.1216A= (p.Asn406=) c.1213A= (p.Asn405=) | |
16 | g.56879108A>C | CA8069403 | SLC12A3 | c.1216A>C (p.Asn406His) c.1213A>C (p.Asn405His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879108A>G | CA395985673 | SLC12A3 | c.1216A>G (p.Asn406Asp) c.1213A>G (p.Asn405Asp) | |
16 | g.56879108A>T | CA395985675 | SLC12A3 | c.1216A>T (p.Asn406Tyr) c.1213A>T (p.Asn405Tyr) | |
16 | g.56879109A>C | CA395985678 | SLC12A3 | c.1217A>C (p.Asn406Thr) c.1214A>C (p.Asn405Thr) | |
16 | g.56879109A>G | CA395985679 | SLC12A3 | c.1217A>G (p.Asn406Ser) c.1214A>G (p.Asn405Ser) | |
16 | g.56879109A>T | CA395985681 | SLC12A3 | c.1217A>T (p.Asn406Ile) c.1214A>T (p.Asn405Ile) | dbSNP |
16 | g.56879110T>A | CA395985684 | SLC12A3 | c.1218T>A (p.Asn406Lys) c.1215T>A (p.Asn405Lys) | |
16 | g.56879110T>C | CA495603692 | SLC12A3 | c.1218T>C (p.Asn406=) c.1215T>C (p.Asn405=) | |
16 | g.56879110T>G | CA395985686 | SLC12A3 | c.1218T>G (p.Asn406Lys) c.1215T>G (p.Asn405Lys) | |
16 | g.56879110_56879111del | CA2697555857 | SLC12A3 | c.1218_1219del (p.Asn406LysfsTer?) c.1215_1216del (p.Asn405LysfsTer?) | ClinVar |
16 | g.56879111G>A | CA395985688 | SLC12A3 | c.1219G>A (p.Asp407Asn) c.1216G>A (p.Asp406Asn) | |
16 | g.56879111G>C | CA395985690 | SLC12A3 | c.1219G>C (p.Asp407His) c.1216G>C (p.Asp406His) | |
16 | g.56879111G>T | CA395985691 | SLC12A3 | c.1219G>T (p.Asp407Tyr) c.1216G>T (p.Asp406Tyr) | |
16 | g.56879112A>C | CA395985698 | SLC12A3 | c.1220A>C (p.Asp407Ala) c.1217A>C (p.Asp406Ala) | |
16 | g.56879112A>G | CA395985701 | SLC12A3 | c.1220A>G (p.Asp407Gly) c.1217A>G (p.Asp406Gly) | |
16 | g.56879112A>T | CA395985693 | SLC12A3 | c.1220A>T (p.Asp407Val) c.1217A>T (p.Asp406Val) | |
16 | g.56879115_56879116del | CA645573542 | SLC12A3 | c.1223_1224del (p.Thr408SerfsTer?) c.1220_1221del (p.Thr407SerfsTer?) | COSMIC |
16 | g.56879113C>A | CA395985702 | SLC12A3 | c.1221C>A (p.Asp407Glu) c.1218C>A (p.Asp406Glu) | |
16 | g.56879113C>G | CA395985704 | SLC12A3 | c.1221C>G (p.Asp407Glu) c.1218C>G (p.Asp406Glu) | |
16 | g.56879113C>T | CA495603693 | SLC12A3 | c.1221C>T (p.Asp407=) c.1218C>T (p.Asp406=) | |
16 | g.56879114A= | CA2224353742 | SLC12A3 | c.1222A= (p.Thr408=) c.1219A= (p.Thr407=) | |
16 | g.56879114A>C | CA395985707 | SLC12A3 | c.1222A>C (p.Thr408Pro) c.1219A>C (p.Thr407Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879114A>G | CA395985708 | SLC12A3 | c.1222A>G (p.Thr408Ala) c.1219A>G (p.Thr407Ala) | |
16 | g.56879114A>T | CA395985710 | SLC12A3 | c.1222A>T (p.Thr408Ser) c.1219A>T (p.Thr407Ser) | |
16 | g.56879115C>A | CA395985716 | SLC12A3 | c.1223C>A (p.Thr408Lys) c.1220C>A (p.Thr407Lys) | |
16 | g.56879115C>G | CA395985714 | SLC12A3 | c.1223C>G (p.Thr408Arg) c.1220C>G (p.Thr407Arg) | |
16 | g.56879115C>T | CA395985713 | SLC12A3 | c.1223C>T (p.Thr408Ile) c.1220C>T (p.Thr407Ile) | |
16 | g.56879116A= | CA2224353743 | SLC12A3 | c.1224A= (p.Thr408=) c.1221A= (p.Thr407=) | |
16 | g.56879116A>C | CA495603694 | SLC12A3 | c.1224A>C (p.Thr408=) c.1221A>C (p.Thr407=) | gnomAD v4 |
16 | g.56879116A>G | CA8069404 | SLC12A3 | c.1224A>G (p.Thr408=) c.1221A>G (p.Thr407=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879116A>T | CA495603695 | SLC12A3 | c.1224A>T (p.Thr408=) c.1221A>T (p.Thr407=) | |
16 | g.56879117G>A | CA395985721 | SLC12A3 | c.1225G>A (p.Val409Met) c.1222G>A (p.Val408Met) | |
16 | g.56879117G>C | CA395985723 | SLC12A3 | c.1225G>C (p.Val409Leu) c.1222G>C (p.Val408Leu) | |
16 | g.56879117G>T | CA395985726 | SLC12A3 | c.1225G>T (p.Val409Leu) c.1222G>T (p.Val408Leu) | |
16 | g.56879118T>A | CA395985728 | SLC12A3 | c.1226T>A (p.Val409Glu) c.1223T>A (p.Val408Glu) | dbSNP gnomAD v4 |
16 | g.56879118T>C | CA395985730 | SLC12A3 | c.1226T>C (p.Val409Ala) c.1223T>C (p.Val408Ala) | |
16 | g.56879118T>G | CA395985732 | SLC12A3 | c.1226T>G (p.Val409Gly) c.1223T>G (p.Val408Gly) | gnomAD v4 |
16 | g.56879118T= | CA2224353744 | SLC12A3 | c.1226T= (p.Val409=) c.1223T= (p.Val408=) | |
16 | g.56879119G>A | CA495603696 | SLC12A3 | c.1227G>A (p.Val409=) c.1224G>A (p.Val408=) | |
16 | g.56879119G>C | CA495603697 | SLC12A3 | c.1227G>C (p.Val409=) c.1224G>C (p.Val408=) | |
16 | g.56879119G>T | CA495603698 | SLC12A3 | c.1227G>T (p.Val409=) c.1224G>T (p.Val408=) | ClinVar |
16 | g.56879125_56879126insCGCAGGCACCCCAGCCAGGGGTCACTGTGTCATTCAGGACCCCT | CA2839467340 | SLC12A3 | c.1233_1234insCGCAGGCACCCCAGCCAGGGGTCACTGTGTCATTCAGGACCCCT (p.Gly412ArgfsTer?) c.1230_1231insCGCAGGCACCCCAGCCAGGGGTCACTGTGTCATTCAGGACCCCT (p.Gly411ArgfsTer?) | |
16 | g.56879120A= | CA2224353745 | SLC12A3 | c.1228A= (p.Thr410=) c.1225A= (p.Thr409=) | |
16 | g.56879120A>C | CA395985734 | SLC12A3 | c.1228A>C (p.Thr410Pro) c.1225A>C (p.Thr409Pro) | |
16 | g.56879120A>G | CA395985738 | SLC12A3 | c.1228A>G (p.Thr410Ala) c.1225A>G (p.Thr409Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879120A>T | CA395985736 | SLC12A3 | c.1228A>T (p.Thr410Ser) c.1225A>T (p.Thr409Ser) | |
16 | g.56879121C>A | CA10648642 | SLC12A3 | c.1229C>A (p.Thr410Asn) c.1226C>A (p.Thr409Asn) | ClinVar dbSNP gnomAD v4 |
16 | g.56879121C= | CA2224353746 | SLC12A3 | c.1229C= (p.Thr410=) c.1226C= (p.Thr409=) | |
16 | g.56879121C>G | CA395985741 | SLC12A3 | c.1229C>G (p.Thr410Ser) c.1226C>G (p.Thr409Ser) | |
16 | g.56879121C>T | CA395985743 | SLC12A3 | c.1229C>T (p.Thr410Ile) c.1226C>T (p.Thr409Ile) | |
16 | g.56879124del | CA2697555859 | SLC12A3 | c.1232del (p.Pro411LeufsTer?) c.1229del (p.Pro410LeufsTer?) | ClinVar |
16 | g.56879122C>A | CA495603699 | SLC12A3 | c.1230C>A (p.Thr410=) c.1227C>A (p.Thr409=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56879122C= | CA2224353747 | SLC12A3 | c.1230C= (p.Thr410=) c.1227C= (p.Thr409=) | |
16 | g.56879122C>G | CA495603700 | SLC12A3 | c.1230C>G (p.Thr410=) c.1227C>G (p.Thr409=) | |
16 | g.56879122C>T | CA495603701 | SLC12A3 | c.1230C>T (p.Thr410=) c.1227C>T (p.Thr409=) | ClinVar dbSNP COSMIC |
16 | g.56879123C>A | CA395985745 | SLC12A3 | c.1231C>A (p.Pro411Thr) c.1228C>A (p.Pro410Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56879123C= | CA2224353748 | SLC12A3 | c.1231C= (p.Pro411=) c.1228C= (p.Pro410=) | |
16 | g.56879123C>G | CA395985747 | SLC12A3 | c.1231C>G (p.Pro411Ala) c.1228C>G (p.Pro410Ala) | |
16 | g.56879123C>T | CA395985749 | SLC12A3 | c.1231C>T (p.Pro411Ser) c.1228C>T (p.Pro410Ser) | |
16 | g.56879124C>A | CA395985751 | SLC12A3 | c.1232C>A (p.Pro411His) c.1229C>A (p.Pro410His) | |
16 | g.56879124C>G | CA395985753 | SLC12A3 | c.1232C>G (p.Pro411Arg) c.1229C>G (p.Pro410Arg) | |
16 | g.56879124C>T | CA395985755 | SLC12A3 | c.1232C>T (p.Pro411Leu) c.1229C>T (p.Pro410Leu) | gnomAD v4 |
16 | g.56879125del | CA2633379313 | SLC12A3 | c.1233del (p.Gly412AlafsTer?) c.1230del (p.Gly411AlafsTer?) | gnomAD v4 |
16 | g.56879125T>A | CA495603704 | SLC12A3 | c.1233T>A (p.Pro411=) c.1230T>A (p.Pro410=) | ClinVar dbSNP |
16 | g.56879125T>C | CA495603702 | SLC12A3 | c.1233T>C (p.Pro411=) c.1230T>C (p.Pro410=) | |
16 | g.56879125T>G | CA495603703 | SLC12A3 | c.1233T>G (p.Pro411=) c.1230T>G (p.Pro410=) | |
16 | g.56879126G>A | CA395985757 | SLC12A3 | c.1234G>A (p.Gly412Ser) c.1231G>A (p.Gly411Ser) | |
16 | g.56879126G>C | CA395985759 | SLC12A3 | c.1234G>C (p.Gly412Arg) c.1231G>C (p.Gly411Arg) | |
16 | g.56879126G>T | CA395985761 | SLC12A3 | c.1234G>T (p.Gly412Cys) c.1231G>T (p.Gly411Cys) | |
16 | g.56879126_56879127insACTT | CA2633379324 | SLC12A3 | c.1234_1235insACTT (p.Gly412AspfsTer?) c.1231_1232insACTT (p.Gly411AspfsTer?) | gnomAD v4 |
16 | g.56879126_56879127insACTTGACTTCAGACTGAGGACCATGATCTCAGAT | CA2633379327 | SLC12A3 | c.1234_1235insACTTGACTTCAGACTGAGGACCATGATCTCAGAT (p.Gly412AspfsTer6) c.1231_1232insACTTGACTTCAGACTGAGGACCATGATCTCAGAT (p.Gly411AspfsTer6) | gnomAD v4 |
16 | g.56879127G>A | CA395985764 | SLC12A3 | c.1235G>A (p.Gly412Asp) c.1232G>A (p.Gly411Asp) | COSMIC |
16 | g.56879127G>C | CA395985768 | SLC12A3 | c.1235G>C (p.Gly412Ala) c.1232G>C (p.Gly411Ala) | dbSNP gnomAD v4 |
16 | g.56879127G= | CA2224353749 | SLC12A3 | c.1235G= (p.Gly412=) c.1232G= (p.Gly411=) | |
16 | g.56879127G>T | CA395985766 | SLC12A3 | c.1235G>T (p.Gly412Val) c.1232G>T (p.Gly411Val) | |
16 | g.56879127_56879128insACTTCAGA | CA2633379332 | SLC12A3 | c.1235_1236insACTTCAGA (p.Trp413LeufsTer?) c.1232_1233insACTTCAGA (p.Trp412LeufsTer?) | gnomAD v4 |
16 | g.56879128C>A | CA495603705 | SLC12A3 | c.1236C>A (p.Gly412=) c.1233C>A (p.Gly411=) | ClinVar |
16 | g.56879128C>G | CA495603706 | SLC12A3 | c.1236C>G (p.Gly412=) c.1233C>G (p.Gly411=) | |
16 | g.56879128C>T | CA495603707 | SLC12A3 | c.1236C>T (p.Gly412=) c.1233C>T (p.Gly411=) | ClinVar |
16 | g.56879129T>A | CA395985770 | SLC12A3 | c.1237T>A (p.Trp413Arg) c.1234T>A (p.Trp412Arg) | |
16 | g.56879129T>C | CA395985772 | SLC12A3 | c.1237T>C (p.Trp413Arg) c.1234T>C (p.Trp412Arg) | |
16 | g.56879129T>G | CA395985774 | SLC12A3 | c.1237T>G (p.Trp413Gly) c.1234T>G (p.Trp412Gly) | |
16 | g.56879130G>A | CA395985776 | SLC12A3 | c.1238G>A (p.Trp413Ter) c.1235G>A (p.Trp412Ter) | ClinVar dbSNP |
16 | g.56879130G>C | CA395985778 | SLC12A3 | c.1238G>C (p.Trp413Ser) c.1235G>C (p.Trp412Ser) | |
16 | g.56879130G>T | CA395985780 | SLC12A3 | c.1238G>T (p.Trp413Leu) c.1235G>T (p.Trp412Leu) | |
16 | g.56879131G>A | CA395985781 | SLC12A3 | c.1239G>A (p.Trp413Ter) c.1236G>A (p.Trp412Ter) | dbSNP gnomAD v4 |
16 | g.56879131G>C | CA395985782 | SLC12A3 | c.1239G>C (p.Trp413Cys) c.1236G>C (p.Trp412Cys) | |
16 | g.56879131G>T | CA395985783 | SLC12A3 | c.1239G>T (p.Trp413Cys) c.1236G>T (p.Trp412Cys) | |
16 | g.56879132G>A | CA395985785 | SLC12A3 | c.1240G>A (p.Gly414Ser) c.1237G>A (p.Gly413Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879132G>C | CA395985787 | SLC12A3 | c.1240G>C (p.Gly414Arg) c.1237G>C (p.Gly413Arg) | |
16 | g.56879132G= | CA2224353750 | SLC12A3 | c.1240G= (p.Gly414=) c.1237G= (p.Gly413=) | |
16 | g.56879132G>T | CA395985789 | SLC12A3 | c.1240G>T (p.Gly414Cys) c.1237G>T (p.Gly413Cys) | |
16 | g.56879133G>A | CA8069405 | SLC12A3 | c.1241G>A (p.Gly414Asp) c.1238G>A (p.Gly413Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879133G>C | CA395985794 | SLC12A3 | c.1241G>C (p.Gly414Ala) c.1238G>C (p.Gly413Ala) | |
16 | g.56879133G= | CA2224353751 | SLC12A3 | c.1241G= (p.Gly414=) c.1238G= (p.Gly413=) | |
16 | g.56879133G>T | CA395985791 | SLC12A3 | c.1241G>T (p.Gly414Val) c.1238G>T (p.Gly413Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56879133_56879134insACCATGATCTCAGA | CA2633379419 | SLC12A3 | c.1241_1242insACCATGATCTCAGA (p.Ala415ProfsTer2) c.1238_1239insACCATGATCTCAGA (p.Ala414ProfsTer2) | gnomAD v4 |
16 | g.56879134T>A | CA495603708 | SLC12A3 | c.1242T>A (p.Gly414=) c.1239T>A (p.Gly413=) | |
16 | g.56879134T>C | CA495603709 | SLC12A3 | c.1242T>C (p.Gly414=) c.1239T>C (p.Gly413=) | |
16 | g.56879134T>G | CA495603710 | SLC12A3 | c.1242T>G (p.Gly414=) c.1239T>G (p.Gly413=) | |
16 | g.56879135G>A | CA395985799 | SLC12A3 | c.1243G>A (p.Ala415Thr) c.1240G>A (p.Ala414Thr) | |
16 | g.56879135G>C | CA395985802 | SLC12A3 | c.1243G>C (p.Ala415Pro) c.1240G>C (p.Ala414Pro) | |
16 | g.56879135G>T | CA395985804 | SLC12A3 | c.1243G>T (p.Ala415Ser) c.1240G>T (p.Ala414Ser) | |
16 | g.56879136C>A | CA395985810 | SLC12A3 | c.1244C>A (p.Ala415Asp) c.1241C>A (p.Ala414Asp) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56879136C= | CA2224353752 | SLC12A3 | c.1244C= (p.Ala415=) c.1241C= (p.Ala414=) | |
16 | g.56879136C>G | CA395985812 | SLC12A3 | c.1244C>G (p.Ala415Gly) c.1241C>G (p.Ala414Gly) | |
16 | g.56879136C>T | CA8069406 | SLC12A3 | c.1244C>T (p.Ala415Val) c.1241C>T (p.Ala414Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879137C>A | CA495603711 | SLC12A3 | c.1245C>A (p.Ala415=) c.1242C>A (p.Ala414=) | |
16 | g.56879137C= | CA2224353753 | SLC12A3 | c.1245C= (p.Ala415=) c.1242C= (p.Ala414=) | |
16 | g.56879137C>G | CA495603712 | SLC12A3 | c.1245C>G (p.Ala415=) c.1242C>G (p.Ala414=) | |
16 | g.56879137C>T | CA495603713 | SLC12A3 | c.1245C>T (p.Ala415=) c.1242C>T (p.Ala414=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56879138T>A | CA395985818 | SLC12A3 | c.1246T>A (p.Cys416Ser) c.1243T>A (p.Cys415Ser) | |
16 | g.56879138T>C | CA395985820 | SLC12A3 | c.1246T>C (p.Cys416Arg) c.1243T>C (p.Cys415Arg) | gnomAD v4 |
16 | g.56879138T>G | CA395985821 | SLC12A3 | c.1246T>G (p.Cys416Gly) c.1243T>G (p.Cys415Gly) | |
16 | g.56879139G>A | CA395985826 | SLC12A3 | c.1247G>A (p.Cys416Tyr) c.1244G>A (p.Cys415Tyr) | |
16 | g.56879139G>C | CA395985828 | SLC12A3 | c.1247G>C (p.Cys416Ser) c.1244G>C (p.Cys415Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56879139G= | CA2224353754 | SLC12A3 | c.1247G= (p.Cys416=) c.1244G= (p.Cys415=) | |
16 | g.56879139G>T | CA395985830 | SLC12A3 | c.1247G>T (p.Cys416Phe) c.1244G>T (p.Cys415Phe) | |
16 | g.56879140C>A | CA395985839 | SLC12A3 | c.1248C>A (p.Cys416Ter) c.1245C>A (p.Cys415Ter) | |
16 | g.56879140C= | CA2224353755 | SLC12A3 | c.1248C= (p.Cys416=) c.1245C= (p.Cys415=) | |
16 | g.56879140C>G | CA395985836 | SLC12A3 | c.1248C>G (p.Cys416Trp) c.1245C>G (p.Cys415Trp) | |
16 | g.56879140C>T | CA10648643 | SLC12A3 | c.1248C>T (p.Cys416=) c.1245C>T (p.Cys415=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56879141G>A | CA8069407 | SLC12A3 | c.1249G>A (p.Glu417Lys) c.1246G>A (p.Glu416Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879141G>C | CA395985846 | SLC12A3 | c.1249G>C (p.Glu417Gln) c.1246G>C (p.Glu416Gln) | gnomAD v4 |
16 | g.56879141G= | CA2224353756 | SLC12A3 | c.1249G= (p.Glu417=) c.1246G= (p.Glu416=) | |
16 | g.56879141G>T | CA395985843 | SLC12A3 | c.1249G>T (p.Glu417Ter) c.1246G>T (p.Glu416Ter) | |
16 | g.56879142A>C | CA395985851 | SLC12A3 | c.1250A>C (p.Glu417Ala) c.1247A>C (p.Glu416Ala) | |
16 | g.56879142A>G | CA395985857 | SLC12A3 | c.1250A>G (p.Glu417Gly) c.1247A>G (p.Glu416Gly) | |
16 | g.56879142A>T | CA395985853 | SLC12A3 | c.1250A>T (p.Glu417Val) c.1247A>T (p.Glu416Val) | |
16 | g.56879142_56879143insTGTCCGTTCCCTGCGGGTTAAGCGATGACGGGCTTCCGGCAGGTTTCCAGTTTATTGCGCCCCAGATGCAGGACGATAAGATGTATAAACCTGCTGCGGCGCTTGAATCCGCCCTTGAAGAAAAGT | CA2514633628 | SLC12A3 | c.1250_1251insTGTCCGTTCCCTGCGGGTTAAGCGATGACGGGCTTCCGGCAGGTTTCCAGTTTATTGCGCCCCAGATGCAGGACGATAAGATGTATAAACCTGCTGCGGCGCTTGAATCCGCCCTTGAAGAAAAGT (p.Glu417AspfsTer10) c.1247_1248insTGTCCGTTCCCTGCGGGTTAAGCGATGACGGGCTTCCGGCAGGTTTCCAGTTTATTGCGCCCCAGATGCAGGACGATAAGATGTATAAACCTGCTGCGGCGCTTGAATCCGCCCTTGAAGAAAAGT (p.Glu416AspfsTer10) | |
16 | g.56879143G>A | CA495603714 | SLC12A3 | c.1251G>A (p.Glu417=) c.1248G>A (p.Glu416=) | |
16 | g.56879143G>C | CA395985860 | SLC12A3 | c.1251G>C (p.Glu417Asp) c.1248G>C (p.Glu416Asp) | |
16 | g.56879143G>T | CA395985863 | SLC12A3 | c.1251G>T (p.Glu417Asp) c.1248G>T (p.Glu416Asp) | |
16 | g.56879144G>A | CA395985875 | SLC12A3 | c.1252G>A (p.Gly418Arg) c.1249G>A (p.Gly417Arg) | gnomAD v4 |
16 | g.56879144G>C | CA395985880 | SLC12A3 | c.1252G>C (p.Gly418Arg) c.1249G>C (p.Gly417Arg) | |
16 | g.56879144G>T | CA395985878 | SLC12A3 | c.1252G>T (p.Gly418Trp) c.1249G>T (p.Gly417Trp) | |
16 | g.56879145G>A | CA395985884 | SLC12A3 | c.1253G>A (p.Gly418Glu) c.1250G>A (p.Gly417Glu) | |
16 | g.56879145G>C | CA395985889 | SLC12A3 | c.1253G>C (p.Gly418Ala) c.1250G>C (p.Gly417Ala) | |
16 | g.56879145G= | CA2224353757 | SLC12A3 | c.1253G= (p.Gly418=) c.1250G= (p.Gly417=) | |
16 | g.56879145G>T | CA395985886 | SLC12A3 | c.1253G>T (p.Gly418Val) c.1250G>T (p.Gly417Val) | dbSNP gnomAD v2 |
16 | g.56879146G>A | CA495603716 | SLC12A3 | c.1254G>A (p.Gly418=) c.1251G>A (p.Gly417=) | ClinVar dbSNP |
16 | g.56879146G>C | CA495603717 | SLC12A3 | c.1254G>C (p.Gly418=) c.1251G>C (p.Gly417=) | |
16 | g.56879146G= | CA2224353758 | SLC12A3 | c.1254G= (p.Gly418=) c.1251G= (p.Gly417=) | |
16 | g.56879146G>T | CA495603715 | SLC12A3 | c.1254G>T (p.Gly418=) c.1251G>T (p.Gly417=) | |
16 | g.56879147C>A | CA395985892 | SLC12A3 | c.1255C>A (p.Leu419Met) c.1252C>A (p.Leu418Met) | |
16 | g.56879147C= | CA2224353759 | SLC12A3 | c.1255C= (p.Leu419=) c.1252C= (p.Leu418=) | |
16 | g.56879147C>G | CA395985894 | SLC12A3 | c.1255C>G (p.Leu419Val) c.1252C>G (p.Leu418Val) | |
16 | g.56879147C>T | CA495603718 | SLC12A3 | c.1255C>T (p.Leu419=) c.1252C>T (p.Leu418=) | dbSNP |
16 | g.56879150_56879154del | CA495603719 | SLC12A3 | c.1258_1262del (p.Ala420GlnfsTer?) c.1255_1259del (p.Ala419GlnfsTer?) | ClinVar dbSNP gnomAD v4 |
16 | g.56879148del | CA2569190929 | SLC12A3 | c.1256del (p.Leu419ArgfsTer29) c.1253del (p.Leu418ArgfsTer29) | ClinVar |
16 | g.56879148T>A | CA395985898 | SLC12A3 | c.1256T>A (p.Leu419Gln) c.1253T>A (p.Leu418Gln) | |
16 | g.56879148T>C | CA395985900 | SLC12A3 | c.1256T>C (p.Leu419Pro) c.1253T>C (p.Leu418Pro) | |
16 | g.56879148T>G | CA395985902 | SLC12A3 | c.1256T>G (p.Leu419Arg) c.1253T>G (p.Leu418Arg) | |
16 | g.56879149G>A | CA495603720 | SLC12A3 | c.1257G>A (p.Leu419=) c.1254G>A (p.Leu418=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56879149G>C | CA495603721 | SLC12A3 | c.1257G>C (p.Leu419=) c.1254G>C (p.Leu418=) | |
16 | g.56879149G= | CA2224353760 | SLC12A3 | c.1257G= (p.Leu419=) c.1254G= (p.Leu418=) | |
16 | g.56879149G>T | CA495603722 | SLC12A3 | c.1257G>T (p.Leu419=) c.1254G>T (p.Leu418=) | |
16 | g.56879150dup | CA2843204000 | SLC12A3 | c.1258dup (p.Ala420GlyfsTer?) c.1255dup (p.Ala419GlyfsTer?) | |
16 | g.56879149_56879151dup | CA2695223429 | SLC12A3 | c.1257_1259dup (p.Ala420_Cys421insAla) c.1254_1256dup (p.Ala419_Cys420insAla) | |
16 | g.56879150G>A | CA8069408 | SLC12A3 | c.1258G>A (p.Ala420Thr) c.1255G>A (p.Ala419Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879150G>C | CA395985910 | SLC12A3 | c.1258G>C (p.Ala420Pro) c.1255G>C (p.Ala419Pro) | |
16 | g.56879150G= | CA2224353761 | SLC12A3 | c.1258G= (p.Ala420=) c.1255G= (p.Ala419=) | |
16 | g.56879150G>T | CA395985912 | SLC12A3 | c.1258G>T (p.Ala420Ser) c.1255G>T (p.Ala419Ser) | |
16 | g.56879151C>A | CA395985915 | SLC12A3 | c.1259C>A (p.Ala420Asp) c.1256C>A (p.Ala419Asp) | |
16 | g.56879151C>G | CA395985918 | SLC12A3 | c.1259C>G (p.Ala420Gly) c.1256C>G (p.Ala419Gly) | |
16 | g.56879151C>T | CA395985919 | SLC12A3 | c.1259C>T (p.Ala420Val) c.1256C>T (p.Ala419Val) | |
16 | g.56879152C>A | CA495603723 | SLC12A3 | c.1260C>A (p.Ala420=) c.1257C>A (p.Ala419=) | |
16 | g.56879152C>G | CA495603724 | SLC12A3 | c.1260C>G (p.Ala420=) c.1257C>G (p.Ala419=) | ClinVar |
16 | g.56879152C>T | CA495603725 | SLC12A3 | c.1260C>T (p.Ala420=) c.1257C>T (p.Ala419=) | gnomAD v4 |
16 | g.56879153T>A | CA395985923 | SLC12A3 | c.1261T>A (p.Cys421Ser) c.1258T>A (p.Cys420Ser) | |
16 | g.56879153T>C | CA119766 | SLC12A3 | c.1261T>C (p.Cys421Arg) c.1258T>C (p.Cys420Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879153T>G | CA395985927 | SLC12A3 | c.1261T>G (p.Cys421Gly) c.1258T>G (p.Cys420Gly) | ClinVar dbSNP |
16 | g.56879153T= | CA2224353762 | SLC12A3 | c.1261T= (p.Cys421=) c.1258T= (p.Cys420=) | |
16 | g.56879154G>A | CA8069409 | SLC12A3 | c.1262G>A (p.Cys421Tyr) c.1259G>A (p.Cys420Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879154G>C | CA395985930 | SLC12A3 | c.1262G>C (p.Cys421Ser) c.1259G>C (p.Cys420Ser) | |
16 | g.56879154G= | CA2224353763 | SLC12A3 | c.1262G= (p.Cys421=) c.1259G= (p.Cys420=) | |
16 | g.56879154G>T | CA395985933 | SLC12A3 | c.1262G>T (p.Cys421Phe) c.1259G>T (p.Cys420Phe) | |
16 | g.56879155C>A | CA395985938 | SLC12A3 | c.1263C>A (p.Cys421Ter) c.1260C>A (p.Cys420Ter) | gnomAD v4 |
16 | g.56879155C= | CA2224353764 | SLC12A3 | c.1263C= (p.Cys421=) c.1260C= (p.Cys420=) | |
16 | g.56879155C>G | CA395985939 | SLC12A3 | c.1263C>G (p.Cys421Trp) c.1260C>G (p.Cys420Trp) | |
16 | g.56879155C>T | CA495603726 | SLC12A3 | c.1263C>T (p.Cys421=) c.1260C>T (p.Cys420=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879156A>C | CA395985944 | SLC12A3 | c.1264A>C (p.Ser422Arg) c.1261A>C (p.Ser421Arg) | |
16 | g.56879156A>G | CA395985946 | SLC12A3 | c.1264A>G (p.Ser422Gly) c.1261A>G (p.Ser421Gly) | |
16 | g.56879156A>T | CA395985949 | SLC12A3 | c.1264A>T (p.Ser422Cys) c.1261A>T (p.Ser421Cys) | |
16 | g.56879157G>A | CA395985953 | SLC12A3 | c.1265G>A (p.Ser422Asn) c.1262G>A (p.Ser421Asn) | |
16 | g.56879157G>C | CA395985956 | SLC12A3 | c.1265G>C (p.Ser422Thr) c.1262G>C (p.Ser421Thr) | |
16 | g.56879157G>T | CA395985958 | SLC12A3 | c.1265G>T (p.Ser422Ile) c.1262G>T (p.Ser421Ile) | |
16 | g.56879158C>A | CA395985962 | SLC12A3 | c.1266C>A (p.Ser422Arg) c.1263C>A (p.Ser421Arg) | |
16 | g.56879158C>G | CA395985965 | SLC12A3 | c.1266C>G (p.Ser422Arg) c.1263C>G (p.Ser421Arg) | gnomAD v4 |
16 | g.56879158C>T | CA495603727 | SLC12A3 | c.1266C>T (p.Ser422=) c.1263C>T (p.Ser421=) | |
16 | g.56879159T>A | CA395985975 | SLC12A3 | c.1267T>A (p.Tyr423Asn) c.1264T>A (p.Tyr422Asn) | |
16 | g.56879159T>C | CA395985972 | SLC12A3 | c.1267T>C (p.Tyr423His) c.1264T>C (p.Tyr422His) | |
16 | g.56879159T>G | CA395985969 | SLC12A3 | c.1267T>G (p.Tyr423Asp) c.1264T>G (p.Tyr422Asp) | |
16 | g.56879160A= | CA2224353765 | SLC12A3 | c.1268A= (p.Tyr423=) c.1265A= (p.Tyr422=) | |
16 | g.56879160A>C | CA395985978 | SLC12A3 | c.1268A>C (p.Tyr423Ser) c.1265A>C (p.Tyr422Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56879160A>G | CA395985979 | SLC12A3 | c.1268A>G (p.Tyr423Cys) c.1265A>G (p.Tyr422Cys) | dbSNP |
16 | g.56879160A>T | CA395985980 | SLC12A3 | c.1268A>T (p.Tyr423Phe) c.1265A>T (p.Tyr422Phe) | |
16 | g.56879161T>A | CA395985983 | SLC12A3 | c.1269T>A (p.Tyr423Ter) c.1266T>A (p.Tyr422Ter) | |
16 | g.56879161T>C | CA495603728 | SLC12A3 | c.1269T>C (p.Tyr423=) c.1266T>C (p.Tyr422=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56879161T>G | CA395985985 | SLC12A3 | c.1269T>G (p.Tyr423Ter) c.1266T>G (p.Tyr422Ter) | |
16 | g.56879161T= | CA2224353766 | SLC12A3 | c.1269T= (p.Tyr423=) c.1266T= (p.Tyr422=) | |
16 | g.56879162G>A | CA395985987 | SLC12A3 | c.1270G>A (p.Gly424Ser) c.1267G>A (p.Gly423Ser) | gnomAD v4 |
16 | g.56879162G>C | CA395985990 | SLC12A3 | c.1270G>C (p.Gly424Arg) c.1267G>C (p.Gly423Arg) | |
16 | g.56879162G>T | CA395985993 | SLC12A3 | c.1270G>T (p.Gly424Cys) c.1267G>T (p.Gly423Cys) | |
16 | g.56879163G>A | CA395985996 | SLC12A3 | c.1271G>A (p.Gly424Asp) c.1268G>A (p.Gly423Asp) | gnomAD v4 |
16 | g.56879163G>C | CA395985999 | SLC12A3 | c.1271G>C (p.Gly424Ala) c.1268G>C (p.Gly423Ala) | |
16 | g.56879163G= | CA2224353767 | SLC12A3 | c.1271G= (p.Gly424=) c.1268G= (p.Gly423=) | |
16 | g.56879163G>T | CA395986002 | SLC12A3 | c.1271G>T (p.Gly424Val) c.1268G>T (p.Gly423Val) | dbSNP |
16 | g.56879163_56879164delinsTT | CA2695223430 | SLC12A3 | c.1271_1272delinsTT (p.Gly424Val) c.1268_1269delinsTT (p.Gly423Val) | |
16 | g.56879164C>A | CA495603729 | SLC12A3 | c.1272C>A (p.Gly424=) c.1269C>A (p.Gly423=) | |
16 | g.56879164C>G | CA495603730 | SLC12A3 | c.1272C>G (p.Gly424=) c.1269C>G (p.Gly423=) | |
16 | g.56879164C>T | CA495603731 | SLC12A3 | c.1272C>T (p.Gly424=) c.1269C>T (p.Gly423=) | |
16 | g.56879165T>A | CA395986010 | SLC12A3 | c.1273T>A (p.Trp425Arg) c.1270T>A (p.Trp424Arg) | |
16 | g.56879165T>C | CA395986009 | SLC12A3 | c.1273T>C (p.Trp425Arg) c.1270T>C (p.Trp424Arg) | |
16 | g.56879165T>G | CA395986006 | SLC12A3 | c.1273T>G (p.Trp425Gly) c.1270T>G (p.Trp424Gly) | |
16 | g.56879166G>A | CA395986013 | SLC12A3 | c.1274G>A (p.Trp425Ter) c.1271G>A (p.Trp424Ter) | |
16 | g.56879166G>C | CA395986015 | SLC12A3 | c.1274G>C (p.Trp425Ser) c.1271G>C (p.Trp424Ser) | |
16 | g.56879166G>T | CA395986018 | SLC12A3 | c.1274G>T (p.Trp425Leu) c.1271G>T (p.Trp424Leu) | |
16 | g.56879167G>A | CA395986023 | SLC12A3 | c.1275G>A (p.Trp425Ter) c.1272G>A (p.Trp424Ter) | |
16 | g.56879167G>C | CA395986024 | SLC12A3 | c.1275G>C (p.Trp425Cys) c.1272G>C (p.Trp424Cys) | |
16 | g.56879167G>T | CA395986027 | SLC12A3 | c.1275G>T (p.Trp425Cys) c.1272G>T (p.Trp424Cys) | |
16 | g.56879168A= | CA2224353768 | SLC12A3 | c.1276A= (p.Asn426=) c.1273A= (p.Asn425=) | |
16 | g.56879168A>C | CA395986030 | SLC12A3 | c.1276A>C (p.Asn426His) c.1273A>C (p.Asn425His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879168A>G | CA8069410 | SLC12A3 | c.1276A>G (p.Asn426Asp) c.1273A>G (p.Asn425Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879168A>T | CA16609823 | SLC12A3 | c.1276A>T (p.Asn426Tyr) c.1273A>T (p.Asn425Tyr) | ClinVar dbSNP |
16 | g.56879169A>C | CA395986034 | SLC12A3 | c.1277A>C (p.Asn426Thr) c.1274A>C (p.Asn425Thr) | |
16 | g.56879169A>G | CA395986043 | SLC12A3 | c.1277A>G (p.Asn426Ser) c.1274A>G (p.Asn425Ser) | |
16 | g.56879169A>T | CA395986045 | SLC12A3 | c.1277A>T (p.Asn426Ile) c.1274A>T (p.Asn425Ile) | |
16 | g.56879170C>A | CA395986051 | SLC12A3 | c.1278C>A (p.Asn426Lys) c.1275C>A (p.Asn425Lys) | |
16 | g.56879170C>G | CA395986048 | SLC12A3 | c.1278C>G (p.Asn426Lys) c.1275C>G (p.Asn425Lys) | |
16 | g.56879170C>T | CA495603732 | SLC12A3 | c.1278C>T (p.Asn426=) c.1275C>T (p.Asn425=) | |
16 | g.56879171T>A | CA395986054 | SLC12A3 | c.1279T>A (p.Phe427Ile) c.1276T>A (p.Phe426Ile) | |
16 | g.56879171T>C | CA395986057 | SLC12A3 | c.1279T>C (p.Phe427Leu) c.1276T>C (p.Phe426Leu) | |
16 | g.56879171T>G | CA395986056 | SLC12A3 | c.1279T>G (p.Phe427Val) c.1276T>G (p.Phe426Val) | |
16 | g.56879172T>A | CA395986060 | SLC12A3 | c.1280T>A (p.Phe427Tyr) c.1277T>A (p.Phe426Tyr) | |
16 | g.56879172T>C | CA395986062 | SLC12A3 | c.1280T>C (p.Phe427Ser) c.1277T>C (p.Phe426Ser) | gnomAD v4 |
16 | g.56879172T>G | CA395986066 | SLC12A3 | c.1280T>G (p.Phe427Cys) c.1277T>G (p.Phe426Cys) | |
16 | g.56879173C>A | CA395986069 | SLC12A3 | c.1281C>A (p.Phe427Leu) c.1278C>A (p.Phe426Leu) | |
16 | g.56879173C= | CA2224353769 | SLC12A3 | c.1281C= (p.Phe427=) c.1278C= (p.Phe426=) | |
16 | g.56879173C>G | CA395986071 | SLC12A3 | c.1281C>G (p.Phe427Leu) c.1278C>G (p.Phe426Leu) | |
16 | g.56879173C>T | CA495603733 | SLC12A3 | c.1281C>T (p.Phe427=) c.1278C>T (p.Phe426=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56879174A>C | CA395986074 | SLC12A3 | c.1282A>C (p.Thr428Pro) c.1279A>C (p.Thr427Pro) | |
16 | g.56879174A>G | CA395986077 | SLC12A3 | c.1282A>G (p.Thr428Ala) c.1279A>G (p.Thr427Ala) | |
16 | g.56879174A>T | CA395986079 | SLC12A3 | c.1282A>T (p.Thr428Ser) c.1279A>T (p.Thr427Ser) | |
16 | g.56879175C>A | CA395986084 | SLC12A3 | c.1283C>A (p.Thr428Asn) c.1280C>A (p.Thr427Asn) | gnomAD v4 |
16 | g.56879175C>G | CA395986087 | SLC12A3 | c.1283C>G (p.Thr428Ser) c.1280C>G (p.Thr427Ser) | |
16 | g.56879175C>T | CA395986089 | SLC12A3 | c.1283C>T (p.Thr428Ile) c.1280C>T (p.Thr427Ile) | gnomAD v4 |
16 | g.56879176C>A | CA495603734 | SLC12A3 | c.1284C>A (p.Thr428=) c.1281C>A (p.Thr427=) | |
16 | g.56879176C= | CA2224353770 | SLC12A3 | c.1284C= (p.Thr428=) c.1281C= (p.Thr427=) | |
16 | g.56879176C>G | CA495603735 | SLC12A3 | c.1284C>G (p.Thr428=) c.1281C>G (p.Thr427=) | |
16 | g.56879176C>T | CA8069411 | SLC12A3 | c.1284C>T (p.Thr428=) c.1281C>T (p.Thr427=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879177G>A | CA281501246 | SLC12A3 | c.1285G>A (p.Glu429Lys) c.1282G>A (p.Glu428Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879177G>C | CA8069412 | SLC12A3 | c.1285G>C (p.Glu429Gln) c.1282G>C (p.Glu428Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879177G= | CA2224353771 | SLC12A3 | c.1285G= (p.Glu429=) c.1282G= (p.Glu428=) | |
16 | g.56879177G>T | CA395986100 | SLC12A3 | c.1285G>T (p.Glu429Ter) c.1282G>T (p.Glu428Ter) | |
16 | g.56879178A>C | CA395986105 | SLC12A3 | c.1286A>C (p.Glu429Ala) c.1283A>C (p.Glu428Ala) | |
16 | g.56879178A>G | CA395986108 | SLC12A3 | c.1286A>G (p.Glu429Gly) c.1283A>G (p.Glu428Gly) | |
16 | g.56879178A>T | CA395986111 | SLC12A3 | c.1286A>T (p.Glu429Val) c.1283A>T (p.Glu428Val) | |
16 | g.56879178_56879179insCT | CA2569190443 | SLC12A3 | c.1286_1287insCT (p.Glu429AspfsTer20) c.1283_1284insCT (p.Glu428AspfsTer20) | |
16 | g.56879179G>A | CA8069413 | SLC12A3 | c.1287G>A (p.Glu429=) c.1284G>A (p.Glu428=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879179G>C | CA395986115 | SLC12A3 | c.1287G>C (p.Glu429Asp) c.1284G>C (p.Glu428Asp) | |
16 | g.56879179G= | CA2224353772 | SLC12A3 | c.1287G= (p.Glu429=) c.1284G= (p.Glu428=) | |
16 | g.56879179G>T | CA395986117 | SLC12A3 | c.1287G>T (p.Glu429Asp) c.1284G>T (p.Glu428Asp) | |
16 | g.56879179_56879188del | CA2695223431 | SLC12A3 | c.1287_1296del (p.Glu429AspfsTer16) c.1284_1293del (p.Glu428AspfsTer16) | |
16 | g.56879180T>A | CA395986121 | SLC12A3 | c.1288T>A (p.Cys430Ser) c.1285T>A (p.Cys429Ser) | ClinVar gnomAD v4 |
16 | g.56879180T>C | CA395986123 | SLC12A3 | c.1288T>C (p.Cys430Arg) c.1285T>C (p.Cys429Arg) | |
16 | g.56879180T>G | CA395986127 | SLC12A3 | c.1288T>G (p.Cys430Gly) c.1285T>G (p.Cys429Gly) | ClinVar dbSNP |
16 | g.56879181G>A | CA395986134 | SLC12A3 | c.1289G>A (p.Cys430Tyr) c.1286G>A (p.Cys429Tyr) | ClinVar dbSNP gnomAD v4 |
16 | g.56879181G>C | CA395986137 | SLC12A3 | c.1289G>C (p.Cys430Ser) c.1286G>C (p.Cys429Ser) | |
16 | g.56879181G= | CA2224353773 | SLC12A3 | c.1289G= (p.Cys430=) c.1286G= (p.Cys429=) | |
16 | g.56879181G>T | CA395986132 | SLC12A3 | c.1289G>T (p.Cys430Phe) c.1286G>T (p.Cys429Phe) | |
16 | g.56879182C>A | CA395986141 | SLC12A3 | c.1290C>A (p.Cys430Ter) c.1287C>A (p.Cys429Ter) | |
16 | g.56879182C>G | CA395986143 | SLC12A3 | c.1290C>G (p.Cys430Trp) c.1287C>G (p.Cys429Trp) | |
16 | g.56879182C>T | CA495603736 | SLC12A3 | c.1290C>T (p.Cys430=) c.1287C>T (p.Cys429=) | COSMIC |
16 | g.56879183_56879184del | CA2509320707 | SLC12A3 | c.1291_1292del (p.Thr431ProfsTer?) c.1288_1289del (p.Thr430ProfsTer?) | |
16 | g.56879183A= | CA2224353774 | SLC12A3 | c.1291A= (p.Thr431=) c.1288A= (p.Thr430=) | |
16 | g.56879183A>C | CA281501256 | SLC12A3 | c.1291A>C (p.Thr431Pro) c.1288A>C (p.Thr430Pro) | dbSNP |
16 | g.56879183A>G | CA8069414 | SLC12A3 | c.1291A>G (p.Thr431Ala) c.1288A>G (p.Thr430Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879183A>T | CA395986152 | SLC12A3 | c.1291A>T (p.Thr431Ser) c.1288A>T (p.Thr430Ser) | |
16 | g.56879184C>A | CA395986156 | SLC12A3 | c.1292C>A (p.Thr431Asn) c.1289C>A (p.Thr430Asn) | |
16 | g.56879184C= | CA2224353775 | SLC12A3 | c.1292C= (p.Thr431=) c.1289C= (p.Thr430=) | |
16 | g.56879184C>G | CA8069415 | SLC12A3 | c.1292C>G (p.Thr431Ser) c.1289C>G (p.Thr430Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879184C>T | CA395986159 | SLC12A3 | c.1292C>T (p.Thr431Ile) c.1289C>T (p.Thr430Ile) | gnomAD v4 |
16 | g.56879185C>A | CA495603737 | SLC12A3 | c.1293C>A (p.Thr431=) c.1290C>A (p.Thr430=) | ClinVar |
16 | g.56879185C>G | CA495603738 | SLC12A3 | c.1293C>G (p.Thr431=) c.1290C>G (p.Thr430=) | |
16 | g.56879185C>T | CA495603739 | SLC12A3 | c.1293C>T (p.Thr431=) c.1290C>T (p.Thr430=) | |
16 | g.56879186C>A | CA395986161 | SLC12A3 | c.1294C>A (p.Gln432Lys) c.1291C>A (p.Gln431Lys) | |
16 | g.56879186C>G | CA395986163 | SLC12A3 | c.1294C>G (p.Gln432Glu) c.1291C>G (p.Gln431Glu) | |
16 | g.56879186C>T | CA395986165 | SLC12A3 | c.1294C>T (p.Gln432Ter) c.1291C>T (p.Gln431Ter) | |
16 | g.56879186_56879196delinsCAGCAGCACAG | CA2224353776 | SLC12A3 | c.1294_1304delinsCAGCAGCACAG (p.Gln432=) c.1291_1301delinsCAGCAGCACAG (p.Gln431=) | |
16 | g.56879187A= | CA2224353777 | SLC12A3 | c.1295A= (p.Gln432=) c.1292A= (p.Gln431=) | |
16 | g.56879187A>C | CA395986174 | SLC12A3 | c.1295A>C (p.Gln432Pro) c.1292A>C (p.Gln431Pro) | |
16 | g.56879187A>G | CA8069416 | SLC12A3 | c.1295A>G (p.Gln432Arg) c.1292A>G (p.Gln431Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879187A>T | CA395986171 | SLC12A3 | c.1295A>T (p.Gln432Leu) c.1292A>T (p.Gln431Leu) | |
16 | g.56879187_56879196del | CA281501259 | SLC12A3 | c.1295_1304del (p.Gln432ProfsTer13) c.1292_1301del (p.Gln431ProfsTer13) | dbSNP |
16 | g.56879188G>A | CA495603740 | SLC12A3 | c.1296G>A (p.Gln432=) c.1293G>A (p.Gln431=) | |
16 | g.56879188G>C | CA395986181 | SLC12A3 | c.1296G>C (p.Gln432His) c.1293G>C (p.Gln431His) | |
16 | g.56879188G>T | CA395986184 | SLC12A3 | c.1296G>T (p.Gln432His) c.1293G>T (p.Gln431His) | |
16 | g.56879188_56879197del | CA395986186 | SLC12A3 | c.1296_1305del (p.Gln432HisfsTer13) c.1293_1302del (p.Gln431HisfsTer13) | |
16 | g.56879189C>A | CA395986190 | SLC12A3 | c.1297C>A (p.Gln433Lys) c.1294C>A (p.Gln432Lys) | gnomAD v4 |
16 | g.56879189C>G | CA395986192 | SLC12A3 | c.1297C>G (p.Gln433Glu) c.1294C>G (p.Gln432Glu) | |
16 | g.56879189C>T | CA395986195 | SLC12A3 | c.1297C>T (p.Gln433Ter) c.1294C>T (p.Gln432Ter) | |
16 | g.56879190A>C | CA395986199 | SLC12A3 | c.1298A>C (p.Gln433Pro) c.1295A>C (p.Gln432Pro) | |
16 | g.56879190A>G | CA395986204 | SLC12A3 | c.1298A>G (p.Gln433Arg) c.1295A>G (p.Gln432Arg) | |
16 | g.56879190A>T | CA395986201 | SLC12A3 | c.1298A>T (p.Gln433Leu) c.1295A>T (p.Gln432Leu) | |
16 | g.56879190_56879200delinsTG | CA2695223432 | SLC12A3 | c.1298_1308delinsTG (p.Gln433_Cys436delinsLeu) c.1295_1305delinsTG (p.Gln432_Cys435delinsLeu) |