Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.56879083_56879095delCA2695223428SLC12A3c.1191_1203del (p.Val398LeufsTer4)
c.1188_1200del (p.Val397LeufsTer4)
16g.56879088_56879094dupCA8069394SLC12A3c.1196_1202dup (p.Ser402Ter)
c.1193_1199dup (p.Ser401Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56879087C>ACA395985577SLC12A3c.1195C>A (p.Arg399Ser)
c.1192C>A (p.Arg398Ser)
16g.56879087C=CA2224353733SLC12A3c.1195C= (p.Arg399=)
c.1192C= (p.Arg398=)
16g.56879087C>GCA395985580SLC12A3c.1195C>G (p.Arg399Gly)
c.1192C>G (p.Arg398Gly)
ClinVar
16g.56879087C>TCA8069396SLC12A3c.1195C>T (p.Arg399Cys)
c.1192C>T (p.Arg398Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56879087_56879088delinsCGCA2224353734SLC12A3c.1195_1196delinsCG (p.Arg399=)
c.1192_1193delinsCG (p.Arg398=)
16g.56879088delCA977643631SLC12A3c.1196del (p.Arg399LeufsTer7)
c.1193del (p.Arg398LeufsTer7)
dbSNP gnomAD v3 gnomAD v4
16g.56879088G>ACA8069397SLC12A3c.1196G>A (p.Arg399His)
c.1193G>A (p.Arg398His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56879088G>CCA8069398SLC12A3c.1196G>C (p.Arg399Pro)
c.1193G>C (p.Arg398Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56879088G=CA2224353735SLC12A3c.1196G= (p.Arg399=)
c.1193G= (p.Arg398=)
16g.56879088G>TCA8069399SLC12A3c.1196G>T (p.Arg399Leu)
c.1193G>T (p.Arg398Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56879089T>ACA495603674SLC12A3c.1197T>A (p.Arg399=)
c.1194T>A (p.Arg398=)
16g.56879089T>CCA495603676SLC12A3c.1197T>C (p.Arg399=)
c.1194T>C (p.Arg398=)
gnomAD v4
16g.56879089T>GCA495603675SLC12A3c.1197T>G (p.Arg399=)
c.1194T>G (p.Arg398=)
16g.56879090G>ACA8069400SLC12A3c.1198G>A (p.Asp400Asn)
c.1195G>A (p.Asp399Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56879090G>CCA395985595SLC12A3c.1198G>C (p.Asp400His)
c.1195G>C (p.Asp399His)
16g.56879090G=CA2224353736SLC12A3c.1198G= (p.Asp400=)
c.1195G= (p.Asp399=)
16g.56879090G>TCA395985598SLC12A3c.1198G>T (p.Asp400Tyr)
c.1195G>T (p.Asp399Tyr)
16g.56879091A>CCA395985600SLC12A3c.1199A>C (p.Asp400Ala)
c.1196A>C (p.Asp399Ala)
16g.56879091A>GCA395985602SLC12A3c.1199A>G (p.Asp400Gly)
c.1196A>G (p.Asp399Gly)
16g.56879091A>TCA395985604SLC12A3c.1199A>T (p.Asp400Val)
c.1196A>T (p.Asp399Val)
16g.56879092T>ACA395985608SLC12A3c.1200T>A (p.Asp400Glu)
c.1197T>A (p.Asp399Glu)
16g.56879092T>CCA8069401SLC12A3c.1200T>C (p.Asp400=)
c.1197T>C (p.Asp399=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56879092T>GCA395985606SLC12A3c.1200T>G (p.Asp400Glu)
c.1197T>G (p.Asp399Glu)
16g.56879092T=CA2224353737SLC12A3c.1200T= (p.Asp400=)
c.1197T= (p.Asp399=)
16g.56879093G>ACA395985611SLC12A3c.1201G>A (p.Ala401Thr)
c.1198G>A (p.Ala400Thr)
16g.56879093G>CCA395985613SLC12A3c.1201G>C (p.Ala401Pro)
c.1198G>C (p.Ala400Pro)
16g.56879093G>TCA395985615SLC12A3c.1201G>T (p.Ala401Ser)
c.1198G>T (p.Ala400Ser)
16g.56879094C>ACA395985617SLC12A3c.1202C>A (p.Ala401Asp)
c.1199C>A (p.Ala400Asp)
gnomAD v4
16g.56879094C>GCA395985621SLC12A3c.1202C>G (p.Ala401Gly)
c.1199C>G (p.Ala400Gly)
16g.56879094C>TCA395985623SLC12A3c.1202C>T (p.Ala401Val)
c.1199C>T (p.Ala400Val)
gnomAD v4
16g.56879095C>ACA495603677SLC12A3c.1203C>A (p.Ala401=)
c.1200C>A (p.Ala400=)
16g.56879095C>GCA495603679SLC12A3c.1203C>G (p.Ala401=)
c.1200C>G (p.Ala400=)
16g.56879095C>TCA495603678SLC12A3c.1203C>T (p.Ala401=)
c.1200C>T (p.Ala400=)
16g.56879096T>ACA395985626SLC12A3c.1204T>A (p.Ser402Thr)
c.1201T>A (p.Ser401Thr)
16g.56879096T>CCA395985627SLC12A3c.1204T>C (p.Ser402Pro)
c.1201T>C (p.Ser401Pro)
16g.56879096T>GCA395985629SLC12A3c.1204T>G (p.Ser402Ala)
c.1201T>G (p.Ser401Ala)
16g.56879097C>ACA395985632SLC12A3c.1205C>A (p.Ser402Tyr)
c.1202C>A (p.Ser401Tyr)
16g.56879097C>GCA395985635SLC12A3c.1205C>G (p.Ser402Cys)
c.1202C>G (p.Ser401Cys)
16g.56879097C>TCA395985636SLC12A3c.1205C>T (p.Ser402Phe)
c.1202C>T (p.Ser401Phe)
COSMIC
16g.56879098T>ACA495603680SLC12A3c.1206T>A (p.Ser402=)
c.1203T>A (p.Ser401=)
16g.56879098T>CCA495603681SLC12A3c.1206T>C (p.Ser402=)
c.1203T>C (p.Ser401=)
16g.56879098T>GCA495603682SLC12A3c.1206T>G (p.Ser402=)
c.1203T>G (p.Ser401=)
16g.56879099G>ACA395985638SLC12A3c.1207G>A (p.Gly403Arg)
c.1204G>A (p.Gly402Arg)
16g.56879099G>CCA395985641SLC12A3c.1207G>C (p.Gly403Arg)
c.1204G>C (p.Gly402Arg)
16g.56879099G>TCA395985639SLC12A3c.1207G>T (p.Gly403Trp)
c.1204G>T (p.Gly402Trp)
16g.56879100G>ACA395985644SLC12A3c.1208G>A (p.Gly403Glu)
c.1205G>A (p.Gly402Glu)
16g.56879100G>CCA395985646SLC12A3c.1208G>C (p.Gly403Ala)
c.1205G>C (p.Gly402Ala)
16g.56879100G>TCA395985648SLC12A3c.1208G>T (p.Gly403Val)
c.1205G>T (p.Gly402Val)
gnomAD v4
16g.56879101G>ACA281501172SLC12A3c.1209G>A (p.Gly403=)
c.1206G>A (p.Gly402=)
ClinVar dbSNP gnomAD v4
16g.56879101G>CCA495603683SLC12A3c.1209G>C (p.Gly403=)
c.1206G>C (p.Gly402=)
16g.56879101G=CA2224353738SLC12A3c.1209G= (p.Gly403=)
c.1206G= (p.Gly402=)
16g.56879101G>TCA495603684SLC12A3c.1209G>T (p.Gly403=)
c.1206G>T (p.Gly402=)
16g.56879102G>ACA8069402SLC12A3c.1210G>A (p.Val404Ile)
c.1207G>A (p.Val403Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56879102G>CCA395985652SLC12A3c.1210G>C (p.Val404Leu)
c.1207G>C (p.Val403Leu)
16g.56879102G=CA2224353739SLC12A3c.1210G= (p.Val404=)
c.1207G= (p.Val403=)
16g.56879102G>TCA395985653SLC12A3c.1210G>T (p.Val404Phe)
c.1207G>T (p.Val403Phe)
16g.56879103T>ACA395985657SLC12A3c.1211T>A (p.Val404Asp)
c.1208T>A (p.Val403Asp)
16g.56879103T>CCA395985658SLC12A3c.1211T>C (p.Val404Ala)
c.1208T>C (p.Val403Ala)
16g.56879103T>GCA395985660SLC12A3c.1211T>G (p.Val404Gly)
c.1208T>G (p.Val403Gly)
16g.56879104C>ACA495603685SLC12A3c.1212C>A (p.Val404=)
c.1209C>A (p.Val403=)
16g.56879104C=CA2224353740SLC12A3c.1212C= (p.Val404=)
c.1209C= (p.Val403=)
16g.56879104C>GCA495603686SLC12A3c.1212C>G (p.Val404=)
c.1209C>G (p.Val403=)
ClinVar dbSNP
16g.56879104C>TCA495603687SLC12A3c.1212C>T (p.Val404=)
c.1209C>T (p.Val403=)
ClinVar dbSNP
16g.56879105C>ACA395985662SLC12A3c.1213C>A (p.Leu405Met)
c.1210C>A (p.Leu404Met)
16g.56879105C>GCA395985664SLC12A3c.1213C>G (p.Leu405Val)
c.1210C>G (p.Leu404Val)
16g.56879105C>TCA495603688SLC12A3c.1213C>T (p.Leu405=)
c.1210C>T (p.Leu404=)
16g.56879106T>ACA395985670SLC12A3c.1214T>A (p.Leu405Gln)
c.1211T>A (p.Leu404Gln)
16g.56879106T>CCA395985666SLC12A3c.1214T>C (p.Leu405Pro)
c.1211T>C (p.Leu404Pro)
gnomAD v4
16g.56879106T>GCA395985668SLC12A3c.1214T>G (p.Leu405Arg)
c.1211T>G (p.Leu404Arg)
16g.56879107G>ACA495603689SLC12A3c.1215G>A (p.Leu405=)
c.1212G>A (p.Leu404=)
16g.56879107G>CCA495603690SLC12A3c.1215G>C (p.Leu405=)
c.1212G>C (p.Leu404=)
16g.56879107G>TCA495603691SLC12A3c.1215G>T (p.Leu405=)
c.1212G>T (p.Leu404=)
16g.56879108A=CA2224353741SLC12A3c.1216A= (p.Asn406=)
c.1213A= (p.Asn405=)
16g.56879108A>CCA8069403SLC12A3c.1216A>C (p.Asn406His)
c.1213A>C (p.Asn405His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56879108A>GCA395985673SLC12A3c.1216A>G (p.Asn406Asp)
c.1213A>G (p.Asn405Asp)
16g.56879108A>TCA395985675SLC12A3c.1216A>T (p.Asn406Tyr)
c.1213A>T (p.Asn405Tyr)
16g.56879109A>CCA395985678SLC12A3c.1217A>C (p.Asn406Thr)
c.1214A>C (p.Asn405Thr)
16g.56879109A>GCA395985679SLC12A3c.1217A>G (p.Asn406Ser)
c.1214A>G (p.Asn405Ser)
16g.56879109A>TCA395985681SLC12A3c.1217A>T (p.Asn406Ile)
c.1214A>T (p.Asn405Ile)
dbSNP
16g.56879110T>ACA395985684SLC12A3c.1218T>A (p.Asn406Lys)
c.1215T>A (p.Asn405Lys)
16g.56879110T>CCA495603692SLC12A3c.1218T>C (p.Asn406=)
c.1215T>C (p.Asn405=)
16g.56879110T>GCA395985686SLC12A3c.1218T>G (p.Asn406Lys)
c.1215T>G (p.Asn405Lys)
16g.56879110_56879111delCA2697555857SLC12A3c.1218_1219del (p.Asn406LysfsTer?)
c.1215_1216del (p.Asn405LysfsTer?)
ClinVar
16g.56879111G>ACA395985688SLC12A3c.1219G>A (p.Asp407Asn)
c.1216G>A (p.Asp406Asn)
16g.56879111G>CCA395985690SLC12A3c.1219G>C (p.Asp407His)
c.1216G>C (p.Asp406His)
16g.56879111G>TCA395985691SLC12A3c.1219G>T (p.Asp407Tyr)
c.1216G>T (p.Asp406Tyr)
16g.56879112A>CCA395985698SLC12A3c.1220A>C (p.Asp407Ala)
c.1217A>C (p.Asp406Ala)
16g.56879112A>GCA395985701SLC12A3c.1220A>G (p.Asp407Gly)
c.1217A>G (p.Asp406Gly)
16g.56879112A>TCA395985693SLC12A3c.1220A>T (p.Asp407Val)
c.1217A>T (p.Asp406Val)
16g.56879115_56879116delCA645573542SLC12A3c.1223_1224del (p.Thr408SerfsTer?)
c.1220_1221del (p.Thr407SerfsTer?)
COSMIC
16g.56879113C>ACA395985702SLC12A3c.1221C>A (p.Asp407Glu)
c.1218C>A (p.Asp406Glu)
16g.56879113C>GCA395985704SLC12A3c.1221C>G (p.Asp407Glu)
c.1218C>G (p.Asp406Glu)
16g.56879113C>TCA495603693SLC12A3c.1221C>T (p.Asp407=)
c.1218C>T (p.Asp406=)
16g.56879114A=CA2224353742SLC12A3c.1222A= (p.Thr408=)
c.1219A= (p.Thr407=)
16g.56879114A>CCA395985707SLC12A3c.1222A>C (p.Thr408Pro)
c.1219A>C (p.Thr407Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56879114A>GCA395985708SLC12A3c.1222A>G (p.Thr408Ala)
c.1219A>G (p.Thr407Ala)
16g.56879114A>TCA395985710SLC12A3c.1222A>T (p.Thr408Ser)
c.1219A>T (p.Thr407Ser)
16g.56879115C>ACA395985716SLC12A3c.1223C>A (p.Thr408Lys)
c.1220C>A (p.Thr407Lys)
16g.56879115C>GCA395985714SLC12A3c.1223C>G (p.Thr408Arg)
c.1220C>G (p.Thr407Arg)
16g.56879115C>TCA395985713SLC12A3c.1223C>T (p.Thr408Ile)
c.1220C>T (p.Thr407Ile)
16g.56879116A=CA2224353743SLC12A3c.1224A= (p.Thr408=)
c.1221A= (p.Thr407=)
16g.56879116A>CCA495603694SLC12A3c.1224A>C (p.Thr408=)
c.1221A>C (p.Thr407=)
gnomAD v4
16g.56879116A>GCA8069404SLC12A3c.1224A>G (p.Thr408=)
c.1221A>G (p.Thr407=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56879116A>TCA495603695SLC12A3c.1224A>T (p.Thr408=)
c.1221A>T (p.Thr407=)
16g.56879117G>ACA395985721SLC12A3c.1225G>A (p.Val409Met)
c.1222G>A (p.Val408Met)
16g.56879117G>CCA395985723SLC12A3c.1225G>C (p.Val409Leu)
c.1222G>C (p.Val408Leu)
16g.56879117G>TCA395985726SLC12A3c.1225G>T (p.Val409Leu)
c.1222G>T (p.Val408Leu)
16g.56879118T>ACA395985728SLC12A3c.1226T>A (p.Val409Glu)
c.1223T>A (p.Val408Glu)
dbSNP gnomAD v4
16g.56879118T>CCA395985730SLC12A3c.1226T>C (p.Val409Ala)
c.1223T>C (p.Val408Ala)
16g.56879118T>GCA395985732SLC12A3c.1226T>G (p.Val409Gly)
c.1223T>G (p.Val408Gly)
gnomAD v4
16g.56879118T=CA2224353744SLC12A3c.1226T= (p.Val409=)
c.1223T= (p.Val408=)
16g.56879119G>ACA495603696SLC12A3c.1227G>A (p.Val409=)
c.1224G>A (p.Val408=)
16g.56879119G>CCA495603697SLC12A3c.1227G>C (p.Val409=)
c.1224G>C (p.Val408=)
16g.56879119G>TCA495603698SLC12A3c.1227G>T (p.Val409=)
c.1224G>T (p.Val408=)
ClinVar
16g.56879120A=CA2224353745SLC12A3c.1228A= (p.Thr410=)
c.1225A= (p.Thr409=)
16g.56879120A>CCA395985734SLC12A3c.1228A>C (p.Thr410Pro)
c.1225A>C (p.Thr409Pro)
16g.56879120A>GCA395985738SLC12A3c.1228A>G (p.Thr410Ala)
c.1225A>G (p.Thr409Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56879120A>TCA395985736SLC12A3c.1228A>T (p.Thr410Ser)
c.1225A>T (p.Thr409Ser)
16g.56879121C>ACA10648642SLC12A3c.1229C>A (p.Thr410Asn)
c.1226C>A (p.Thr409Asn)
ClinVar dbSNP gnomAD v4
16g.56879121C=CA2224353746SLC12A3c.1229C= (p.Thr410=)
c.1226C= (p.Thr409=)
16g.56879121C>GCA395985741SLC12A3c.1229C>G (p.Thr410Ser)
c.1226C>G (p.Thr409Ser)
16g.56879121C>TCA395985743SLC12A3c.1229C>T (p.Thr410Ile)
c.1226C>T (p.Thr409Ile)
16g.56879124delCA2697555859SLC12A3c.1232del (p.Pro411LeufsTer?)
c.1229del (p.Pro410LeufsTer?)
ClinVar
16g.56879122C>ACA495603699SLC12A3c.1230C>A (p.Thr410=)
c.1227C>A (p.Thr409=)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56879122C=CA2224353747SLC12A3c.1230C= (p.Thr410=)
c.1227C= (p.Thr409=)
16g.56879122C>GCA495603700SLC12A3c.1230C>G (p.Thr410=)
c.1227C>G (p.Thr409=)
16g.56879122C>TCA495603701SLC12A3c.1230C>T (p.Thr410=)
c.1227C>T (p.Thr409=)
ClinVar dbSNP COSMIC
16g.56879123C>ACA395985745SLC12A3c.1231C>A (p.Pro411Thr)
c.1228C>A (p.Pro410Thr)
dbSNP gnomAD v3 gnomAD v4
16g.56879123C=CA2224353748SLC12A3c.1231C= (p.Pro411=)
c.1228C= (p.Pro410=)
16g.56879123C>GCA395985747SLC12A3c.1231C>G (p.Pro411Ala)
c.1228C>G (p.Pro410Ala)
16g.56879123C>TCA395985749SLC12A3c.1231C>T (p.Pro411Ser)
c.1228C>T (p.Pro410Ser)
16g.56879124C>ACA395985751SLC12A3c.1232C>A (p.Pro411His)
c.1229C>A (p.Pro410His)
16g.56879124C>GCA395985753SLC12A3c.1232C>G (p.Pro411Arg)
c.1229C>G (p.Pro410Arg)
16g.56879124C>TCA395985755SLC12A3c.1232C>T (p.Pro411Leu)
c.1229C>T (p.Pro410Leu)
gnomAD v4
16g.56879125delCA2633379313SLC12A3c.1233del (p.Gly412AlafsTer?)
c.1230del (p.Gly411AlafsTer?)
gnomAD v4
16g.56879125T>ACA495603704SLC12A3c.1233T>A (p.Pro411=)
c.1230T>A (p.Pro410=)
ClinVar dbSNP
16g.56879125T>CCA495603702SLC12A3c.1233T>C (p.Pro411=)
c.1230T>C (p.Pro410=)
16g.56879125T>GCA495603703SLC12A3c.1233T>G (p.Pro411=)
c.1230T>G (p.Pro410=)
16g.56879126G>ACA395985757SLC12A3c.1234G>A (p.Gly412Ser)
c.1231G>A (p.Gly411Ser)
16g.56879126G>CCA395985759SLC12A3c.1234G>C (p.Gly412Arg)
c.1231G>C (p.Gly411Arg)
16g.56879126G>TCA395985761SLC12A3c.1234G>T (p.Gly412Cys)
c.1231G>T (p.Gly411Cys)
16g.56879126_56879127insACTTCA2633379324SLC12A3c.1234_1235insACTT (p.Gly412AspfsTer?)
c.1231_1232insACTT (p.Gly411AspfsTer?)
gnomAD v4
16g.56879126_56879127insACTTGACTTCAGACTGAGGACCATGATCTCAGATCA2633379327SLC12A3c.1234_1235insACTTGACTTCAGACTGAGGACCATGATCTCAGAT (p.Gly412AspfsTer6)
c.1231_1232insACTTGACTTCAGACTGAGGACCATGATCTCAGAT (p.Gly411AspfsTer6)
gnomAD v4
16g.56879127G>ACA395985764SLC12A3c.1235G>A (p.Gly412Asp)
c.1232G>A (p.Gly411Asp)
COSMIC
16g.56879127G>CCA395985768SLC12A3c.1235G>C (p.Gly412Ala)
c.1232G>C (p.Gly411Ala)
dbSNP gnomAD v4
16g.56879127G=CA2224353749SLC12A3c.1235G= (p.Gly412=)
c.1232G= (p.Gly411=)
16g.56879127G>TCA395985766SLC12A3c.1235G>T (p.Gly412Val)
c.1232G>T (p.Gly411Val)
16g.56879127_56879128insACTTCAGACA2633379332SLC12A3c.1235_1236insACTTCAGA (p.Trp413LeufsTer?)
c.1232_1233insACTTCAGA (p.Trp412LeufsTer?)
gnomAD v4
16g.56879128C>ACA495603705SLC12A3c.1236C>A (p.Gly412=)
c.1233C>A (p.Gly411=)
ClinVar
16g.56879128C>GCA495603706SLC12A3c.1236C>G (p.Gly412=)
c.1233C>G (p.Gly411=)
16g.56879128C>TCA495603707SLC12A3c.1236C>T (p.Gly412=)
c.1233C>T (p.Gly411=)
ClinVar
16g.56879129T>ACA395985770SLC12A3c.1237T>A (p.Trp413Arg)
c.1234T>A (p.Trp412Arg)
16g.56879129T>CCA395985772SLC12A3c.1237T>C (p.Trp413Arg)
c.1234T>C (p.Trp412Arg)
16g.56879129T>GCA395985774SLC12A3c.1237T>G (p.Trp413Gly)
c.1234T>G (p.Trp412Gly)
16g.56879130G>ACA395985776SLC12A3c.1238G>A (p.Trp413Ter)
c.1235G>A (p.Trp412Ter)
ClinVar dbSNP
16g.56879130G>CCA395985778SLC12A3c.1238G>C (p.Trp413Ser)
c.1235G>C (p.Trp412Ser)
16g.56879130G>TCA395985780SLC12A3c.1238G>T (p.Trp413Leu)
c.1235G>T (p.Trp412Leu)
16g.56879131G>ACA395985781SLC12A3c.1239G>A (p.Trp413Ter)
c.1236G>A (p.Trp412Ter)
dbSNP gnomAD v4
16g.56879131G>CCA395985782SLC12A3c.1239G>C (p.Trp413Cys)
c.1236G>C (p.Trp412Cys)
16g.56879131G>TCA395985783SLC12A3c.1239G>T (p.Trp413Cys)
c.1236G>T (p.Trp412Cys)
16g.56879132G>ACA395985785SLC12A3c.1240G>A (p.Gly414Ser)
c.1237G>A (p.Gly413Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56879132G>CCA395985787SLC12A3c.1240G>C (p.Gly414Arg)
c.1237G>C (p.Gly413Arg)
16g.56879132G=CA2224353750SLC12A3c.1240G= (p.Gly414=)
c.1237G= (p.Gly413=)
16g.56879132G>TCA395985789SLC12A3c.1240G>T (p.Gly414Cys)
c.1237G>T (p.Gly413Cys)
16g.56879133G>ACA8069405SLC12A3c.1241G>A (p.Gly414Asp)
c.1238G>A (p.Gly413Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56879133G>CCA395985794SLC12A3c.1241G>C (p.Gly414Ala)
c.1238G>C (p.Gly413Ala)
16g.56879133G=CA2224353751SLC12A3c.1241G= (p.Gly414=)
c.1238G= (p.Gly413=)
16g.56879133G>TCA395985791SLC12A3c.1241G>T (p.Gly414Val)
c.1238G>T (p.Gly413Val)
dbSNP gnomAD v3 gnomAD v4
16g.56879133_56879134insACCATGATCTCAGACA2633379419SLC12A3c.1241_1242insACCATGATCTCAGA (p.Ala415ProfsTer2)
c.1238_1239insACCATGATCTCAGA (p.Ala414ProfsTer2)
gnomAD v4
16g.56879134T>ACA495603708SLC12A3c.1242T>A (p.Gly414=)
c.1239T>A (p.Gly413=)
16g.56879134T>CCA495603709SLC12A3c.1242T>C (p.Gly414=)
c.1239T>C (p.Gly413=)
16g.56879134T>GCA495603710SLC12A3c.1242T>G (p.Gly414=)
c.1239T>G (p.Gly413=)
16g.56879135G>ACA395985799SLC12A3c.1243G>A (p.Ala415Thr)
c.1240G>A (p.Ala414Thr)
16g.56879135G>CCA395985802SLC12A3c.1243G>C (p.Ala415Pro)
c.1240G>C (p.Ala414Pro)
16g.56879135G>TCA395985804SLC12A3c.1243G>T (p.Ala415Ser)
c.1240G>T (p.Ala414Ser)
16g.56879136C>ACA395985810SLC12A3c.1244C>A (p.Ala415Asp)
c.1241C>A (p.Ala414Asp)
dbSNP gnomAD v2 gnomAD v4
16g.56879136C=CA2224353752SLC12A3c.1244C= (p.Ala415=)
c.1241C= (p.Ala414=)
16g.56879136C>GCA395985812SLC12A3c.1244C>G (p.Ala415Gly)
c.1241C>G (p.Ala414Gly)
16g.56879136C>TCA8069406SLC12A3c.1244C>T (p.Ala415Val)
c.1241C>T (p.Ala414Val)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56879137C>ACA495603711SLC12A3c.1245C>A (p.Ala415=)
c.1242C>A (p.Ala414=)
16g.56879137C=CA2224353753SLC12A3c.1245C= (p.Ala415=)
c.1242C= (p.Ala414=)
16g.56879137C>GCA495603712SLC12A3c.1245C>G (p.Ala415=)
c.1242C>G (p.Ala414=)
16g.56879137C>TCA495603713SLC12A3c.1245C>T (p.Ala415=)
c.1242C>T (p.Ala414=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.56879138T>ACA395985818SLC12A3c.1246T>A (p.Cys416Ser)
c.1243T>A (p.Cys415Ser)
16g.56879138T>CCA395985820SLC12A3c.1246T>C (p.Cys416Arg)
c.1243T>C (p.Cys415Arg)
gnomAD v4
16g.56879138T>GCA395985821SLC12A3c.1246T>G (p.Cys416Gly)
c.1243T>G (p.Cys415Gly)
16g.56879139G>ACA395985826SLC12A3c.1247G>A (p.Cys416Tyr)
c.1244G>A (p.Cys415Tyr)
16g.56879139G>CCA395985828SLC12A3c.1247G>C (p.Cys416Ser)
c.1244G>C (p.Cys415Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56879139G=CA2224353754SLC12A3c.1247G= (p.Cys416=)
c.1244G= (p.Cys415=)
16g.56879139G>TCA395985830SLC12A3c.1247G>T (p.Cys416Phe)
c.1244G>T (p.Cys415Phe)
16g.56879140C>ACA395985839SLC12A3c.1248C>A (p.Cys416Ter)
c.1245C>A (p.Cys415Ter)
16g.56879140C=CA2224353755SLC12A3c.1248C= (p.Cys416=)
c.1245C= (p.Cys415=)
16g.56879140C>GCA395985836SLC12A3c.1248C>G (p.Cys416Trp)
c.1245C>G (p.Cys415Trp)
16g.56879140C>TCA10648643SLC12A3c.1248C>T (p.Cys416=)
c.1245C>T (p.Cys415=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.56879141G>ACA8069407SLC12A3c.1249G>A (p.Glu417Lys)
c.1246G>A (p.Glu416Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56879141G>CCA395985846SLC12A3c.1249G>C (p.Glu417Gln)
c.1246G>C (p.Glu416Gln)
gnomAD v4
16g.56879141G=CA2224353756SLC12A3c.1249G= (p.Glu417=)
c.1246G= (p.Glu416=)
16g.56879141G>TCA395985843SLC12A3c.1249G>T (p.Glu417Ter)
c.1246G>T (p.Glu416Ter)
16g.56879142A>CCA395985851SLC12A3c.1250A>C (p.Glu417Ala)
c.1247A>C (p.Glu416Ala)
16g.56879142A>GCA395985857SLC12A3c.1250A>G (p.Glu417Gly)
c.1247A>G (p.Glu416Gly)
16g.56879142A>TCA395985853SLC12A3c.1250A>T (p.Glu417Val)
c.1247A>T (p.Glu416Val)
16g.56879142_56879143insTGTCCGTTCCCTGCGGGTTAAGCGATGACGGGCTTCCGGCAGGTTTCCAGTTTATTGCGCCCCAGATGCAGGACGATAAGATGTATAAACCTGCTGCGGCGCTTGAATCCGCCCTTGAAGAAAAGTCA2514633628SLC12A3c.1250_1251insTGTCCGTTCCCTGCGGGTTAAGCGATGACGGGCTTCCGGCAGGTTTCCAGTTTATTGCGCCCCAGATGCAGGACGATAAGATGTATAAACCTGCTGCGGCGCTTGAATCCGCCCTTGAAGAAAAGT (p.Glu417AspfsTer10)
c.1247_1248insTGTCCGTTCCCTGCGGGTTAAGCGATGACGGGCTTCCGGCAGGTTTCCAGTTTATTGCGCCCCAGATGCAGGACGATAAGATGTATAAACCTGCTGCGGCGCTTGAATCCGCCCTTGAAGAAAAGT (p.Glu416AspfsTer10)
16g.56879143G>ACA495603714SLC12A3c.1251G>A (p.Glu417=)
c.1248G>A (p.Glu416=)
16g.56879143G>CCA395985860SLC12A3c.1251G>C (p.Glu417Asp)
c.1248G>C (p.Glu416Asp)
16g.56879143G>TCA395985863SLC12A3c.1251G>T (p.Glu417Asp)
c.1248G>T (p.Glu416Asp)
16g.56879144G>ACA395985875SLC12A3c.1252G>A (p.Gly418Arg)
c.1249G>A (p.Gly417Arg)
gnomAD v4
16g.56879144G>CCA395985880SLC12A3c.1252G>C (p.Gly418Arg)
c.1249G>C (p.Gly417Arg)
16g.56879144G>TCA395985878SLC12A3c.1252G>T (p.Gly418Trp)
c.1249G>T (p.Gly417Trp)
16g.56879145G>ACA395985884SLC12A3c.1253G>A (p.Gly418Glu)
c.1250G>A (p.Gly417Glu)
16g.56879145G>CCA395985889SLC12A3c.1253G>C (p.Gly418Ala)
c.1250G>C (p.Gly417Ala)
16g.56879145G=CA2224353757SLC12A3c.1253G= (p.Gly418=)
c.1250G= (p.Gly417=)
16g.56879145G>TCA395985886SLC12A3c.1253G>T (p.Gly418Val)
c.1250G>T (p.Gly417Val)
dbSNP gnomAD v2
16g.56879146G>ACA495603716SLC12A3c.1254G>A (p.Gly418=)
c.1251G>A (p.Gly417=)
ClinVar dbSNP
16g.56879146G>CCA495603717SLC12A3c.1254G>C (p.Gly418=)
c.1251G>C (p.Gly417=)
16g.56879146G=CA2224353758SLC12A3c.1254G= (p.Gly418=)
c.1251G= (p.Gly417=)
16g.56879146G>TCA495603715SLC12A3c.1254G>T (p.Gly418=)
c.1251G>T (p.Gly417=)
16g.56879147C>ACA395985892SLC12A3c.1255C>A (p.Leu419Met)
c.1252C>A (p.Leu418Met)
16g.56879147C=CA2224353759SLC12A3c.1255C= (p.Leu419=)
c.1252C= (p.Leu418=)
16g.56879147C>GCA395985894SLC12A3c.1255C>G (p.Leu419Val)
c.1252C>G (p.Leu418Val)
16g.56879147C>TCA495603718SLC12A3c.1255C>T (p.Leu419=)
c.1252C>T (p.Leu418=)
dbSNP
16g.56879150_56879154delCA495603719SLC12A3c.1258_1262del (p.Ala420GlnfsTer?)
c.1255_1259del (p.Ala419GlnfsTer?)
ClinVar dbSNP gnomAD v4
16g.56879148delCA2569190929SLC12A3c.1256del (p.Leu419ArgfsTer29)
c.1253del (p.Leu418ArgfsTer29)
ClinVar
16g.56879148T>ACA395985898SLC12A3c.1256T>A (p.Leu419Gln)
c.1253T>A (p.Leu418Gln)
16g.56879148T>CCA395985900SLC12A3c.1256T>C (p.Leu419Pro)
c.1253T>C (p.Leu418Pro)
16g.56879148T>GCA395985902SLC12A3c.1256T>G (p.Leu419Arg)
c.1253T>G (p.Leu418Arg)
16g.56879149G>ACA495603720SLC12A3c.1257G>A (p.Leu419=)
c.1254G>A (p.Leu418=)
dbSNP gnomAD v3 gnomAD v4
16g.56879149G>CCA495603721SLC12A3c.1257G>C (p.Leu419=)
c.1254G>C (p.Leu418=)
16g.56879149G=CA2224353760SLC12A3c.1257G= (p.Leu419=)
c.1254G= (p.Leu418=)
16g.56879149G>TCA495603722SLC12A3c.1257G>T (p.Leu419=)
c.1254G>T (p.Leu418=)
16g.56879149_56879151dupCA2695223429SLC12A3c.1257_1259dup (p.Ala420_Cys421insAla)
c.1254_1256dup (p.Ala419_Cys420insAla)
16g.56879150G>ACA8069408SLC12A3c.1258G>A (p.Ala420Thr)
c.1255G>A (p.Ala419Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56879150G>CCA395985910SLC12A3c.1258G>C (p.Ala420Pro)
c.1255G>C (p.Ala419Pro)
16g.56879150G=CA2224353761SLC12A3c.1258G= (p.Ala420=)
c.1255G= (p.Ala419=)
16g.56879150G>TCA395985912SLC12A3c.1258G>T (p.Ala420Ser)
c.1255G>T (p.Ala419Ser)
16g.56879151C>ACA395985915SLC12A3c.1259C>A (p.Ala420Asp)
c.1256C>A (p.Ala419Asp)
16g.56879151C>GCA395985918SLC12A3c.1259C>G (p.Ala420Gly)
c.1256C>G (p.Ala419Gly)
16g.56879151C>TCA395985919SLC12A3c.1259C>T (p.Ala420Val)
c.1256C>T (p.Ala419Val)
16g.56879152C>ACA495603723SLC12A3c.1260C>A (p.Ala420=)
c.1257C>A (p.Ala419=)
16g.56879152C>GCA495603724SLC12A3c.1260C>G (p.Ala420=)
c.1257C>G (p.Ala419=)
ClinVar
16g.56879152C>TCA495603725SLC12A3c.1260C>T (p.Ala420=)
c.1257C>T (p.Ala419=)
gnomAD v4
16g.56879153T>ACA395985923SLC12A3c.1261T>A (p.Cys421Ser)
c.1258T>A (p.Cys420Ser)
16g.56879153T>CCA119766SLC12A3c.1261T>C (p.Cys421Arg)
c.1258T>C (p.Cys420Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56879153T>GCA395985927SLC12A3c.1261T>G (p.Cys421Gly)
c.1258T>G (p.Cys420Gly)
ClinVar dbSNP
16g.56879153T=CA2224353762SLC12A3c.1261T= (p.Cys421=)
c.1258T= (p.Cys420=)
16g.56879154G>ACA8069409SLC12A3c.1262G>A (p.Cys421Tyr)
c.1259G>A (p.Cys420Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56879154G>CCA395985930SLC12A3c.1262G>C (p.Cys421Ser)
c.1259G>C (p.Cys420Ser)
16g.56879154G=CA2224353763SLC12A3c.1262G= (p.Cys421=)
c.1259G= (p.Cys420=)
16g.56879154G>TCA395985933SLC12A3c.1262G>T (p.Cys421Phe)
c.1259G>T (p.Cys420Phe)
16g.56879155C>ACA395985938SLC12A3c.1263C>A (p.Cys421Ter)
c.1260C>A (p.Cys420Ter)
gnomAD v4
16g.56879155C=CA2224353764SLC12A3c.1263C= (p.Cys421=)
c.1260C= (p.Cys420=)
16g.56879155C>GCA395985939SLC12A3c.1263C>G (p.Cys421Trp)
c.1260C>G (p.Cys420Trp)
16g.56879155C>TCA495603726SLC12A3c.1263C>T (p.Cys421=)
c.1260C>T (p.Cys420=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56879156A>CCA395985944SLC12A3c.1264A>C (p.Ser422Arg)
c.1261A>C (p.Ser421Arg)
16g.56879156A>GCA395985946SLC12A3c.1264A>G (p.Ser422Gly)
c.1261A>G (p.Ser421Gly)
16g.56879156A>TCA395985949SLC12A3c.1264A>T (p.Ser422Cys)
c.1261A>T (p.Ser421Cys)
16g.56879157G>ACA395985953SLC12A3c.1265G>A (p.Ser422Asn)
c.1262G>A (p.Ser421Asn)
16g.56879157G>CCA395985956SLC12A3c.1265G>C (p.Ser422Thr)
c.1262G>C (p.Ser421Thr)
16g.56879157G>TCA395985958SLC12A3c.1265G>T (p.Ser422Ile)
c.1262G>T (p.Ser421Ile)
16g.56879158C>ACA395985962SLC12A3c.1266C>A (p.Ser422Arg)
c.1263C>A (p.Ser421Arg)
16g.56879158C>GCA395985965SLC12A3c.1266C>G (p.Ser422Arg)
c.1263C>G (p.Ser421Arg)
gnomAD v4
16g.56879158C>TCA495603727SLC12A3c.1266C>T (p.Ser422=)
c.1263C>T (p.Ser421=)
16g.56879159T>ACA395985975SLC12A3c.1267T>A (p.Tyr423Asn)
c.1264T>A (p.Tyr422Asn)
16g.56879159T>CCA395985972SLC12A3c.1267T>C (p.Tyr423His)
c.1264T>C (p.Tyr422His)
16g.56879159T>GCA395985969SLC12A3c.1267T>G (p.Tyr423Asp)
c.1264T>G (p.Tyr422Asp)
16g.56879160A=CA2224353765SLC12A3c.1268A= (p.Tyr423=)
c.1265A= (p.Tyr422=)
16g.56879160A>CCA395985978SLC12A3c.1268A>C (p.Tyr423Ser)
c.1265A>C (p.Tyr422Ser)
dbSNP gnomAD v2 gnomAD v4
16g.56879160A>GCA395985979SLC12A3c.1268A>G (p.Tyr423Cys)
c.1265A>G (p.Tyr422Cys)
dbSNP
16g.56879160A>TCA395985980SLC12A3c.1268A>T (p.Tyr423Phe)
c.1265A>T (p.Tyr422Phe)
16g.56879161T>ACA395985983SLC12A3c.1269T>A (p.Tyr423Ter)
c.1266T>A (p.Tyr422Ter)
16g.56879161T>CCA495603728SLC12A3c.1269T>C (p.Tyr423=)
c.1266T>C (p.Tyr422=)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56879161T>GCA395985985SLC12A3c.1269T>G (p.Tyr423Ter)
c.1266T>G (p.Tyr422Ter)
16g.56879161T=CA2224353766SLC12A3c.1269T= (p.Tyr423=)
c.1266T= (p.Tyr422=)
16g.56879162G>ACA395985987SLC12A3c.1270G>A (p.Gly424Ser)
c.1267G>A (p.Gly423Ser)
gnomAD v4
16g.56879162G>CCA395985990SLC12A3c.1270G>C (p.Gly424Arg)
c.1267G>C (p.Gly423Arg)
16g.56879162G>TCA395985993SLC12A3c.1270G>T (p.Gly424Cys)
c.1267G>T (p.Gly423Cys)
16g.56879163G>ACA395985996SLC12A3c.1271G>A (p.Gly424Asp)
c.1268G>A (p.Gly423Asp)
gnomAD v4
16g.56879163G>CCA395985999SLC12A3c.1271G>C (p.Gly424Ala)
c.1268G>C (p.Gly423Ala)
16g.56879163G=CA2224353767SLC12A3c.1271G= (p.Gly424=)
c.1268G= (p.Gly423=)
16g.56879163G>TCA395986002SLC12A3c.1271G>T (p.Gly424Val)
c.1268G>T (p.Gly423Val)
dbSNP
16g.56879163_56879164delinsTTCA2695223430SLC12A3c.1271_1272delinsTT (p.Gly424Val)
c.1268_1269delinsTT (p.Gly423Val)
16g.56879164C>ACA495603729SLC12A3c.1272C>A (p.Gly424=)
c.1269C>A (p.Gly423=)
16g.56879164C>GCA495603730SLC12A3c.1272C>G (p.Gly424=)
c.1269C>G (p.Gly423=)
16g.56879164C>TCA495603731SLC12A3c.1272C>T (p.Gly424=)
c.1269C>T (p.Gly423=)
16g.56879165T>ACA395986010SLC12A3c.1273T>A (p.Trp425Arg)
c.1270T>A (p.Trp424Arg)
16g.56879165T>CCA395986009SLC12A3c.1273T>C (p.Trp425Arg)
c.1270T>C (p.Trp424Arg)
16g.56879165T>GCA395986006SLC12A3c.1273T>G (p.Trp425Gly)
c.1270T>G (p.Trp424Gly)
16g.56879166G>ACA395986013SLC12A3c.1274G>A (p.Trp425Ter)
c.1271G>A (p.Trp424Ter)
16g.56879166G>CCA395986015SLC12A3c.1274G>C (p.Trp425Ser)
c.1271G>C (p.Trp424Ser)
16g.56879166G>TCA395986018SLC12A3c.1274G>T (p.Trp425Leu)
c.1271G>T (p.Trp424Leu)
16g.56879167G>ACA395986023SLC12A3c.1275G>A (p.Trp425Ter)
c.1272G>A (p.Trp424Ter)
16g.56879167G>CCA395986024SLC12A3c.1275G>C (p.Trp425Cys)
c.1272G>C (p.Trp424Cys)
16g.56879167G>TCA395986027SLC12A3c.1275G>T (p.Trp425Cys)
c.1272G>T (p.Trp424Cys)
16g.56879168A=CA2224353768SLC12A3c.1276A= (p.Asn426=)
c.1273A= (p.Asn425=)
16g.56879168A>CCA395986030SLC12A3c.1276A>C (p.Asn426His)
c.1273A>C (p.Asn425His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56879168A>GCA8069410SLC12A3c.1276A>G (p.Asn426Asp)
c.1273A>G (p.Asn425Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56879168A>TCA16609823SLC12A3c.1276A>T (p.Asn426Tyr)
c.1273A>T (p.Asn425Tyr)
ClinVar dbSNP
16g.56879169A>CCA395986034SLC12A3c.1277A>C (p.Asn426Thr)
c.1274A>C (p.Asn425Thr)
16g.56879169A>GCA395986043SLC12A3c.1277A>G (p.Asn426Ser)
c.1274A>G (p.Asn425Ser)
16g.56879169A>TCA395986045SLC12A3c.1277A>T (p.Asn426Ile)
c.1274A>T (p.Asn425Ile)
16g.56879170C>ACA395986051SLC12A3c.1278C>A (p.Asn426Lys)
c.1275C>A (p.Asn425Lys)
16g.56879170C>GCA395986048SLC12A3c.1278C>G (p.Asn426Lys)
c.1275C>G (p.Asn425Lys)
16g.56879170C>TCA495603732SLC12A3c.1278C>T (p.Asn426=)
c.1275C>T (p.Asn425=)
16g.56879171T>ACA395986054SLC12A3c.1279T>A (p.Phe427Ile)
c.1276T>A (p.Phe426Ile)
16g.56879171T>CCA395986057SLC12A3c.1279T>C (p.Phe427Leu)
c.1276T>C (p.Phe426Leu)
16g.56879171T>GCA395986056SLC12A3c.1279T>G (p.Phe427Val)
c.1276T>G (p.Phe426Val)
16g.56879172T>ACA395986060SLC12A3c.1280T>A (p.Phe427Tyr)
c.1277T>A (p.Phe426Tyr)
16g.56879172T>CCA395986062SLC12A3c.1280T>C (p.Phe427Ser)
c.1277T>C (p.Phe426Ser)
gnomAD v4
16g.56879172T>GCA395986066SLC12A3c.1280T>G (p.Phe427Cys)
c.1277T>G (p.Phe426Cys)
16g.56879173C>ACA395986069SLC12A3c.1281C>A (p.Phe427Leu)
c.1278C>A (p.Phe426Leu)
16g.56879173C=CA2224353769SLC12A3c.1281C= (p.Phe427=)
c.1278C= (p.Phe426=)
16g.56879173C>GCA395986071SLC12A3c.1281C>G (p.Phe427Leu)
c.1278C>G (p.Phe426Leu)
16g.56879173C>TCA495603733SLC12A3c.1281C>T (p.Phe427=)
c.1278C>T (p.Phe426=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56879174A>CCA395986074SLC12A3c.1282A>C (p.Thr428Pro)
c.1279A>C (p.Thr427Pro)
16g.56879174A>GCA395986077SLC12A3c.1282A>G (p.Thr428Ala)
c.1279A>G (p.Thr427Ala)
16g.56879174A>TCA395986079SLC12A3c.1282A>T (p.Thr428Ser)
c.1279A>T (p.Thr427Ser)
16g.56879175C>ACA395986084SLC12A3c.1283C>A (p.Thr428Asn)
c.1280C>A (p.Thr427Asn)
gnomAD v4
16g.56879175C>GCA395986087SLC12A3c.1283C>G (p.Thr428Ser)
c.1280C>G (p.Thr427Ser)
16g.56879175C>TCA395986089SLC12A3c.1283C>T (p.Thr428Ile)
c.1280C>T (p.Thr427Ile)
gnomAD v4
16g.56879176C>ACA495603734SLC12A3c.1284C>A (p.Thr428=)
c.1281C>A (p.Thr427=)
16g.56879176C=CA2224353770SLC12A3c.1284C= (p.Thr428=)
c.1281C= (p.Thr427=)
16g.56879176C>GCA495603735SLC12A3c.1284C>G (p.Thr428=)
c.1281C>G (p.Thr427=)
16g.56879176C>TCA8069411SLC12A3c.1284C>T (p.Thr428=)
c.1281C>T (p.Thr427=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56879177G>ACA281501246SLC12A3c.1285G>A (p.Glu429Lys)
c.1282G>A (p.Glu428Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56879177G>CCA8069412SLC12A3c.1285G>C (p.Glu429Gln)
c.1282G>C (p.Glu428Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56879177G=CA2224353771SLC12A3c.1285G= (p.Glu429=)
c.1282G= (p.Glu428=)
16g.56879177G>TCA395986100SLC12A3c.1285G>T (p.Glu429Ter)
c.1282G>T (p.Glu428Ter)
16g.56879178A>CCA395986105SLC12A3c.1286A>C (p.Glu429Ala)
c.1283A>C (p.Glu428Ala)
16g.56879178A>GCA395986108SLC12A3c.1286A>G (p.Glu429Gly)
c.1283A>G (p.Glu428Gly)
16g.56879178A>TCA395986111SLC12A3c.1286A>T (p.Glu429Val)
c.1283A>T (p.Glu428Val)
16g.56879178_56879179insCTCA2569190443SLC12A3c.1286_1287insCT (p.Glu429AspfsTer20)
c.1283_1284insCT (p.Glu428AspfsTer20)
16g.56879179G>ACA8069413SLC12A3c.1287G>A (p.Glu429=)
c.1284G>A (p.Glu428=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56879179G>CCA395986115SLC12A3c.1287G>C (p.Glu429Asp)
c.1284G>C (p.Glu428Asp)
16g.56879179G=CA2224353772SLC12A3c.1287G= (p.Glu429=)
c.1284G= (p.Glu428=)
16g.56879179G>TCA395986117SLC12A3c.1287G>T (p.Glu429Asp)
c.1284G>T (p.Glu428Asp)
16g.56879179_56879188delCA2695223431SLC12A3c.1287_1296del (p.Glu429AspfsTer16)
c.1284_1293del (p.Glu428AspfsTer16)
16g.56879180T>ACA395986121SLC12A3c.1288T>A (p.Cys430Ser)
c.1285T>A (p.Cys429Ser)
ClinVar gnomAD v4
16g.56879180T>CCA395986123SLC12A3c.1288T>C (p.Cys430Arg)
c.1285T>C (p.Cys429Arg)
16g.56879180T>GCA395986127SLC12A3c.1288T>G (p.Cys430Gly)
c.1285T>G (p.Cys429Gly)
ClinVar dbSNP
16g.56879181G>ACA395986134SLC12A3c.1289G>A (p.Cys430Tyr)
c.1286G>A (p.Cys429Tyr)
ClinVar dbSNP gnomAD v4
16g.56879181G>CCA395986137SLC12A3c.1289G>C (p.Cys430Ser)
c.1286G>C (p.Cys429Ser)
16g.56879181G=CA2224353773SLC12A3c.1289G= (p.Cys430=)
c.1286G= (p.Cys429=)
16g.56879181G>TCA395986132SLC12A3c.1289G>T (p.Cys430Phe)
c.1286G>T (p.Cys429Phe)
16g.56879182C>ACA395986141SLC12A3c.1290C>A (p.Cys430Ter)
c.1287C>A (p.Cys429Ter)
16g.56879182C>GCA395986143SLC12A3c.1290C>G (p.Cys430Trp)
c.1287C>G (p.Cys429Trp)
16g.56879182C>TCA495603736SLC12A3c.1290C>T (p.Cys430=)
c.1287C>T (p.Cys429=)
COSMIC
16g.56879183_56879184delCA2509320707SLC12A3c.1291_1292del (p.Thr431ProfsTer?)
c.1288_1289del (p.Thr430ProfsTer?)
16g.56879183A=CA2224353774SLC12A3c.1291A= (p.Thr431=)
c.1288A= (p.Thr430=)
16g.56879183A>CCA281501256SLC12A3c.1291A>C (p.Thr431Pro)
c.1288A>C (p.Thr430Pro)
dbSNP
16g.56879183A>GCA8069414SLC12A3c.1291A>G (p.Thr431Ala)
c.1288A>G (p.Thr430Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56879183A>TCA395986152SLC12A3c.1291A>T (p.Thr431Ser)
c.1288A>T (p.Thr430Ser)
16g.56879184C>ACA395986156SLC12A3c.1292C>A (p.Thr431Asn)
c.1289C>A (p.Thr430Asn)
16g.56879184C=CA2224353775SLC12A3c.1292C= (p.Thr431=)
c.1289C= (p.Thr430=)
16g.56879184C>GCA8069415SLC12A3c.1292C>G (p.Thr431Ser)
c.1289C>G (p.Thr430Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56879184C>TCA395986159SLC12A3c.1292C>T (p.Thr431Ile)
c.1289C>T (p.Thr430Ile)
gnomAD v4
16g.56879185C>ACA495603737SLC12A3c.1293C>A (p.Thr431=)
c.1290C>A (p.Thr430=)
ClinVar
16g.56879185C>GCA495603738SLC12A3c.1293C>G (p.Thr431=)
c.1290C>G (p.Thr430=)
16g.56879185C>TCA495603739SLC12A3c.1293C>T (p.Thr431=)
c.1290C>T (p.Thr430=)
16g.56879186C>ACA395986161SLC12A3c.1294C>A (p.Gln432Lys)
c.1291C>A (p.Gln431Lys)
16g.56879186C>GCA395986163SLC12A3c.1294C>G (p.Gln432Glu)
c.1291C>G (p.Gln431Glu)
16g.56879186C>TCA395986165SLC12A3c.1294C>T (p.Gln432Ter)
c.1291C>T (p.Gln431Ter)
16g.56879186_56879196delinsCAGCAGCACAGCA2224353776SLC12A3c.1294_1304delinsCAGCAGCACAG (p.Gln432=)
c.1291_1301delinsCAGCAGCACAG (p.Gln431=)
16g.56879187A=CA2224353777SLC12A3c.1295A= (p.Gln432=)
c.1292A= (p.Gln431=)
16g.56879187A>CCA395986174SLC12A3c.1295A>C (p.Gln432Pro)
c.1292A>C (p.Gln431Pro)
16g.56879187A>GCA8069416SLC12A3c.1295A>G (p.Gln432Arg)
c.1292A>G (p.Gln431Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56879187A>TCA395986171SLC12A3c.1295A>T (p.Gln432Leu)
c.1292A>T (p.Gln431Leu)
16g.56879187_56879196delCA281501259SLC12A3c.1295_1304del (p.Gln432ProfsTer13)
c.1292_1301del (p.Gln431ProfsTer13)
dbSNP

Number of alleles fetched