Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.56863765_56872392delCA1139664706 ClinVar
16g.56870181_56870191delinsGGGTGTGGCCACA2224349316SLC12A3c.687_697delinsGGGTGTGGCCA (p.Val229=)
c.684_694delinsGGGTGTGGCCA (p.Val228=)
16g.56870182_56870191delCA622333954SLC12A3c.688_697del (p.Gly230CysfsTer?)
c.685_694del (p.Gly229CysfsTer?)
dbSNP gnomAD v2 gnomAD v4
16g.56870187_56870189delCA2695223672SLC12A3c.693_695del (p.Ala232del)
c.690_692del (p.Ala231del)
16g.56870189C>ACA395982005SLC12A3c.695C>A (p.Ala232Asp)
c.692C>A (p.Ala231Asp)
gnomAD v4
16g.56870189C=CA2224349320SLC12A3c.695C= (p.Ala232=)
c.692C= (p.Ala231=)
16g.56870189C>GCA395982006SLC12A3c.695C>G (p.Ala232Gly)
c.692C>G (p.Ala231Gly)
16g.56870189C>TCA395982007SLC12A3c.695C>T (p.Ala232Val)
c.692C>T (p.Ala231Val)
dbSNP gnomAD v2 gnomAD v4
16g.56870190C>ACA495603126SLC12A3c.696C>A (p.Ala232=)
c.693C>A (p.Ala231=)
16g.56870190C>GCA495603127SLC12A3c.696C>G (p.Ala232=)
c.693C>G (p.Ala231=)
16g.56870190C>TCA495603128SLC12A3c.696C>T (p.Ala232=)
c.693C>T (p.Ala231=)
ClinVar
16g.56870190_56870201delCA2695223673SLC12A3c.696_707del (p.Met233_Val236del)
c.693_704del (p.Met232_Val235del)
16g.56870191A=CA2224349321SLC12A3c.697A= (p.Met233=)
c.694A= (p.Met232=)
16g.56870191A>CCA395982008SLC12A3c.697A>C (p.Met233Leu)
c.694A>C (p.Met232Leu)
16g.56870191A>GCA216098SLC12A3c.697A>G (p.Met233Val)
c.694A>G (p.Met232Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.56870191A>TCA395982009SLC12A3c.697A>T (p.Met233Leu)
c.694A>T (p.Met232Leu)
gnomAD v4
16g.56870191_56870199delCA2633371196SLC12A3c.697_705del (p.Met233_Thr235del)
c.694_702del (p.Met232_Thr234del)
gnomAD v4
16g.56870192T>ACA395982010SLC12A3c.698T>A (p.Met233Lys)
c.695T>A (p.Met232Lys)
16g.56870192T>CCA395982011SLC12A3c.698T>C (p.Met233Thr)
c.695T>C (p.Met232Thr)
16g.56870192T>GCA395982012SLC12A3c.698T>G (p.Met233Arg)
c.695T>G (p.Met232Arg)
16g.56870193G>ACA395982013SLC12A3c.699G>A (p.Met233Ile)
c.696G>A (p.Met232Ile)
16g.56870193G>CCA395982014SLC12A3c.699G>C (p.Met233Ile)
c.696G>C (p.Met232Ile)
16g.56870193G>TCA395982015SLC12A3c.699G>T (p.Met233Ile)
c.696G>T (p.Met232Ile)
16g.56870194C>ACA395982018SLC12A3c.700C>A (p.His234Asn)
c.697C>A (p.His233Asn)
16g.56870194C>GCA395982017SLC12A3c.700C>G (p.His234Asp)
c.697C>G (p.His233Asp)
16g.56870194C>TCA395982016SLC12A3c.700C>T (p.His234Tyr)
c.697C>T (p.His233Tyr)
16g.56870195A>CCA395982019SLC12A3c.701A>C (p.His234Pro)
c.698A>C (p.His233Pro)
16g.56870195A>GCA395982021SLC12A3c.701A>G (p.His234Arg)
c.698A>G (p.His233Arg)
16g.56870195A>TCA395982020SLC12A3c.701A>T (p.His234Leu)
c.698A>T (p.His233Leu)
16g.56870196C>ACA395982022SLC12A3c.702C>A (p.His234Gln)
c.699C>A (p.His233Gln)
16g.56870196C>GCA395982023SLC12A3c.702C>G (p.His234Gln)
c.699C>G (p.His233Gln)
16g.56870196C>TCA495603129SLC12A3c.702C>T (p.His234=)
c.699C>T (p.His233=)
16g.56870197A=CA2224349322SLC12A3c.703A= (p.Thr235=)
c.700A= (p.Thr234=)
16g.56870197A>CCA395982024SLC12A3c.703A>C (p.Thr235Pro)
c.700A>C (p.Thr234Pro)
16g.56870197A>GCA395982025SLC12A3c.703A>G (p.Thr235Ala)
c.700A>G (p.Thr234Ala)
gnomAD v4
16g.56870197A>TCA395982026SLC12A3c.703A>T (p.Thr235Ser)
c.700A>T (p.Thr234Ser)
dbSNP gnomAD v3 gnomAD v4
16g.56870198C>ACA395982027SLC12A3c.704C>A (p.Thr235Lys)
c.701C>A (p.Thr234Lys)
16g.56870198C=CA2224349323SLC12A3c.704C= (p.Thr235=)
c.701C= (p.Thr234=)
16g.56870198C>GCA395982028SLC12A3c.704C>G (p.Thr235Arg)
c.701C>G (p.Thr234Arg)
gnomAD v4
16g.56870198C>TCA8069151SLC12A3c.704C>T (p.Thr235Met)
c.701C>T (p.Thr234Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870199G>ACA8069152SLC12A3c.705G>A (p.Thr235=)
c.702G>A (p.Thr234=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870199G>CCA495603131SLC12A3c.705G>C (p.Thr235=)
c.702G>C (p.Thr234=)
16g.56870199G=CA2224349324SLC12A3c.705G= (p.Thr235=)
c.702G= (p.Thr234=)
16g.56870199G>TCA495603130SLC12A3c.705G>T (p.Thr235=)
c.702G>T (p.Thr234=)
16g.56870200G>ACA395982029SLC12A3c.706G>A (p.Val236Met)
c.703G>A (p.Val235Met)
16g.56870200G>CCA395982030SLC12A3c.706G>C (p.Val236Leu)
c.703G>C (p.Val235Leu)
16g.56870200G=CA2224349325SLC12A3c.706G= (p.Val236=)
c.703G= (p.Val235=)
16g.56870200G>TCA395982031SLC12A3c.706G>T (p.Val236Leu)
c.703G>T (p.Val235Leu)
dbSNP gnomAD v2 gnomAD v4
16g.56870201T>ACA395982032SLC12A3c.707T>A (p.Val236Glu)
c.704T>A (p.Val235Glu)
16g.56870201T>CCA395982033SLC12A3c.707T>C (p.Val236Ala)
c.704T>C (p.Val235Ala)
gnomAD v4
16g.56870201T>GCA395982034SLC12A3c.707T>G (p.Val236Gly)
c.704T>G (p.Val235Gly)
16g.56870202G>ACA495603134SLC12A3c.708G>A (p.Val236=)
c.705G>A (p.Val235=)
16g.56870202G>CCA495603133SLC12A3c.708G>C (p.Val236=)
c.705G>C (p.Val235=)
16g.56870202G>TCA495603132SLC12A3c.708G>T (p.Val236=)
c.705G>T (p.Val235=)
16g.56870203G>ACA395982035SLC12A3c.709G>A (p.Gly237Ser)
c.706G>A (p.Gly236Ser)
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.56870203G>CCA395982037SLC12A3c.709G>C (p.Gly237Arg)
c.706G>C (p.Gly236Arg)
16g.56870203G=CA2224349326SLC12A3c.709G= (p.Gly237=)
c.706G= (p.Gly236=)
16g.56870203G>TCA395982036SLC12A3c.709G>T (p.Gly237Cys)
c.706G>T (p.Gly236Cys)
16g.56870204G>ACA395982038SLC12A3c.710G>A (p.Gly237Asp)
c.707G>A (p.Gly236Asp)
gnomAD v4
16g.56870204G>CCA395982039SLC12A3c.710G>C (p.Gly237Ala)
c.707G>C (p.Gly236Ala)
ClinVar
16g.56870204G>TCA395982040SLC12A3c.710G>T (p.Gly237Val)
c.707G>T (p.Gly236Val)
16g.56870205C>ACA495603135SLC12A3c.711C>A (p.Gly237=)
c.708C>A (p.Gly236=)
ClinVar
16g.56870205C=CA2224349327SLC12A3c.711C= (p.Gly237=)
c.708C= (p.Gly236=)
16g.56870205C>GCA495603137SLC12A3c.711C>G (p.Gly237=)
c.708C>G (p.Gly236=)
16g.56870205C>TCA495603136SLC12A3c.711C>T (p.Gly237=)
c.708C>T (p.Gly236=)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56870206T>ACA395982041SLC12A3c.712T>A (p.Phe238Ile)
c.709T>A (p.Phe237Ile)
16g.56870206T>CCA395982042SLC12A3c.712T>C (p.Phe238Leu)
c.709T>C (p.Phe237Leu)
16g.56870206T>GCA395982043SLC12A3c.712T>G (p.Phe238Val)
c.709T>G (p.Phe237Val)
16g.56870207T>ACA395982044SLC12A3c.713T>A (p.Phe238Tyr)
c.710T>A (p.Phe237Tyr)
16g.56870207T>CCA395982045SLC12A3c.713T>C (p.Phe238Ser)
c.710T>C (p.Phe237Ser)
16g.56870207T>GCA395982046SLC12A3c.713T>G (p.Phe238Cys)
c.710T>G (p.Phe237Cys)
16g.56870208T>ACA395982047SLC12A3c.714T>A (p.Phe238Leu)
c.711T>A (p.Phe237Leu)
16g.56870208T>CCA495603138SLC12A3c.714T>C (p.Phe238=)
c.711T>C (p.Phe237=)
ClinVar gnomAD v4
16g.56870208T>GCA395982048SLC12A3c.714T>G (p.Phe238Leu)
c.711T>G (p.Phe237Leu)
16g.56870209G>ACA395982049SLC12A3c.715G>A (p.Ala239Thr)
c.712G>A (p.Ala238Thr)
gnomAD v4
16g.56870209G>CCA395982051SLC12A3c.715G>C (p.Ala239Pro)
c.712G>C (p.Ala238Pro)
16g.56870209G>TCA395982050SLC12A3c.715G>T (p.Ala239Ser)
c.712G>T (p.Ala238Ser)
16g.56870210C>ACA395982052SLC12A3c.716C>A (p.Ala239Glu)
c.713C>A (p.Ala238Glu)
16g.56870210C>GCA395982053SLC12A3c.716C>G (p.Ala239Gly)
c.713C>G (p.Ala238Gly)
16g.56870210C>TCA395982054SLC12A3c.716C>T (p.Ala239Val)
c.713C>T (p.Ala238Val)
16g.56870211A>CCA495603139SLC12A3c.717A>C (p.Ala239=)
c.714A>C (p.Ala238=)
16g.56870211A>GCA495603140SLC12A3c.717A>G (p.Ala239=)
c.714A>G (p.Ala238=)
16g.56870211A>TCA495603141SLC12A3c.717A>T (p.Ala239=)
c.714A>T (p.Ala238=)
16g.56870212G>ACA395982055SLC12A3c.718G>A (p.Glu240Lys)
c.715G>A (p.Glu239Lys)
16g.56870212G>CCA395982056SLC12A3c.718G>C (p.Glu240Gln)
c.715G>C (p.Glu239Gln)
16g.56870212G>TCA395982057SLC12A3c.718G>T (p.Glu240Ter)
c.715G>T (p.Glu239Ter)
16g.56870213A>CCA395982058SLC12A3c.719A>C (p.Glu240Ala)
c.716A>C (p.Glu239Ala)
16g.56870213A>GCA395982059SLC12A3c.719A>G (p.Glu240Gly)
c.716A>G (p.Glu239Gly)
ClinVar dbSNP
16g.56870213A>TCA395982060SLC12A3c.719A>T (p.Glu240Val)
c.716A>T (p.Glu239Val)
16g.56870214G>ACA8069153SLC12A3c.720G>A (p.Glu240=)
c.717G>A (p.Glu239=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56870214G>CCA395982061SLC12A3c.720G>C (p.Glu240Asp)
c.717G>C (p.Glu239Asp)
16g.56870214G=CA2224349328SLC12A3c.720G= (p.Glu240=)
c.717G= (p.Glu239=)
16g.56870214G>TCA395982062SLC12A3c.720G>T (p.Glu240Asp)
c.717G>T (p.Glu239Asp)
16g.56870215A=CA2224349329SLC12A3c.721A= (p.Thr241=)
c.718A= (p.Thr240=)
16g.56870215A>CCA395982064SLC12A3c.721A>C (p.Thr241Pro)
c.718A>C (p.Thr240Pro)
gnomAD v4
16g.56870215A>GCA8069154SLC12A3c.721A>G (p.Thr241Ala)
c.718A>G (p.Thr240Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56870215A>TCA395982063SLC12A3c.721A>T (p.Thr241Ser)
c.718A>T (p.Thr240Ser)
16g.56870216C>ACA395982065SLC12A3c.722C>A (p.Thr241Asn)
c.719C>A (p.Thr240Asn)
16g.56870216C=CA2224349330SLC12A3c.722C= (p.Thr241=)
c.719C= (p.Thr240=)
16g.56870216C>GCA395982066SLC12A3c.722C>G (p.Thr241Ser)
c.719C>G (p.Thr240Ser)
16g.56870216C>TCA395982067SLC12A3c.722C>T (p.Thr241Ile)
c.719C>T (p.Thr240Ile)
gnomAD v2 gnomAD v4
16g.56870217delCA2697555854SLC12A3c.723del (p.Val242CysfsTer?)
c.720del (p.Val241CysfsTer?)
ClinVar
16g.56870217C>ACA495603144SLC12A3c.723C>A (p.Thr241=)
c.720C>A (p.Thr240=)
16g.56870217C=CA2224349331SLC12A3c.723C= (p.Thr241=)
c.720C= (p.Thr240=)
16g.56870217C>GCA495603145SLC12A3c.723C>G (p.Thr241=)
c.720C>G (p.Thr240=)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56870217C>TCA8069155SLC12A3c.723C>T (p.Thr241=)
c.720C>T (p.Thr240=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56870219_56870222dupCA622333971SLC12A3c.725_728dup (p.Asp244AlafsTer16)
c.722_725dup (p.Asp243AlafsTer16)
dbSNP gnomAD v2 gnomAD v4
16g.56870217_56870218insTGCTCCAGGTGAGGCCTGCA2224349332SLC12A3c.723_724insTGCTCCAGGTGAGGCCTG
c.720_721insTGCTCCAGGTGAGGCCTG
dbSNP
16g.56870218G>ACA8069157SLC12A3c.724G>A (p.Val242Met)
c.721G>A (p.Val241Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56870218G>CCA395982068SLC12A3c.724G>C (p.Val242Leu)
c.721G>C (p.Val241Leu)
dbSNP
16g.56870218G=CA2224349333SLC12A3c.724G= (p.Val242=)
c.721G= (p.Val241=)
16g.56870218G>TCA8069156SLC12A3c.724G>T (p.Val242Leu)
c.721G>T (p.Val241Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870219_56870220delCA2695223674SLC12A3c.725_726del (p.Val242AlafsTer16)
c.722_723del (p.Val241AlafsTer16)
16g.56870219T>ACA395982069SLC12A3c.725T>A (p.Val242Glu)
c.722T>A (p.Val241Glu)
16g.56870219T>CCA8069158SLC12A3c.725T>C (p.Val242Ala)
c.722T>C (p.Val241Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870219T>GCA395982070SLC12A3c.725T>G (p.Val242Gly)
c.722T>G (p.Val241Gly)
16g.56870219T=CA2224349334SLC12A3c.725T= (p.Val242=)
c.722T= (p.Val241=)
16g.56870222_56870230delCA2633371244SLC12A3c.728_736del (p.Arg243_Leu245del)
c.725_733del (p.Arg242_Leu244del)
gnomAD v4
16g.56870220G>ACA8069159SLC12A3c.726G>A (p.Val242=)
c.723G>A (p.Val241=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870220G>CCA495603146SLC12A3c.726G>C (p.Val242=)
c.723G>C (p.Val241=)
16g.56870220G=CA2224349335SLC12A3c.726G= (p.Val242=)
c.723G= (p.Val241=)
16g.56870220G>TCA495603147SLC12A3c.726G>T (p.Val242=)
c.723G>T (p.Val241=)
gnomAD v4
16g.56870221C>ACA495603148SLC12A3c.727C>A (p.Arg243=)
c.724C>A (p.Arg242=)
gnomAD v4
16g.56870221C=CA2224349336SLC12A3c.727C= (p.Arg243=)
c.724C= (p.Arg242=)
16g.56870221C>GCA395982071SLC12A3c.727C>G (p.Arg243Gly)
c.724C>G (p.Arg242Gly)
gnomAD v4
16g.56870221C>TCA8069160SLC12A3c.727C>T (p.Arg243Trp)
c.724C>T (p.Arg242Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56870221_56870222insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGTCA2633371254SLC12A3c.727_728insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT (p.Arg243ProfsTer?)
c.724_725insCCCAGCCAACCGACTCATCTGGTTTCATGGTTCCCGGCTCTGCCCTGATAGGT (p.Arg242ProfsTer?)
gnomAD v4
16g.56870222G>ACA8069161SLC12A3c.728G>A (p.Arg243Gln)
c.725G>A (p.Arg242Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870222G>CCA395982073SLC12A3c.728G>C (p.Arg243Pro)
c.725G>C (p.Arg242Pro)
16g.56870222G=CA2224349337SLC12A3c.728G= (p.Arg243=)
c.725G= (p.Arg242=)
16g.56870222G>TCA395982072SLC12A3c.728G>T (p.Arg243Leu)
c.725G>T (p.Arg242Leu)
16g.56870223G>ACA495603149SLC12A3c.729G>A (p.Arg243=)
c.726G>A (p.Arg242=)
16g.56870223G>CCA495603150SLC12A3c.729G>C (p.Arg243=)
c.726G>C (p.Arg242=)
16g.56870223G>TCA495603151SLC12A3c.729G>T (p.Arg243=)
c.726G>T (p.Arg242=)
16g.56870224G>ACA395982074SLC12A3c.730G>A (p.Asp244Asn)
c.727G>A (p.Asp243Asn)
gnomAD v4
16g.56870224G>CCA395982075SLC12A3c.730G>C (p.Asp244His)
c.727G>C (p.Asp243His)
gnomAD v4
16g.56870224G>TCA395982076SLC12A3c.730G>T (p.Asp244Tyr)
c.727G>T (p.Asp243Tyr)
gnomAD v4
16g.56870225A>CCA395982077SLC12A3c.731A>C (p.Asp244Ala)
c.728A>C (p.Asp243Ala)
16g.56870225A>GCA395982078SLC12A3c.731A>G (p.Asp244Gly)
c.728A>G (p.Asp243Gly)
16g.56870225A>TCA395982079SLC12A3c.731A>T (p.Asp244Val)
c.728A>T (p.Asp243Val)
16g.56870226C>ACA8069162SLC12A3c.732C>A (p.Asp244Glu)
c.729C>A (p.Asp243Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870226C=CA2224349338SLC12A3c.732C= (p.Asp244=)
c.729C= (p.Asp243=)
16g.56870226C>GCA395982080SLC12A3c.732C>G (p.Asp244Glu)
c.729C>G (p.Asp243Glu)
16g.56870226C>TCA495603152SLC12A3c.732C>T (p.Asp244=)
c.729C>T (p.Asp243=)
ClinVar gnomAD v4
16g.56870227C>ACA8069163SLC12A3c.733C>A (p.Leu245Met)
c.730C>A (p.Leu244Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870227C=CA2224349339SLC12A3c.733C= (p.Leu245=)
c.730C= (p.Leu244=)
16g.56870227C>GCA395982081SLC12A3c.733C>G (p.Leu245Val)
c.730C>G (p.Leu244Val)
16g.56870227C>TCA495603153SLC12A3c.733C>T (p.Leu245=)
c.730C>T (p.Leu244=)
gnomAD v4
16g.56870228T>ACA395982082SLC12A3c.734T>A (p.Leu245Gln)
c.731T>A (p.Leu244Gln)
16g.56870228T>CCA8069164SLC12A3c.734T>C (p.Leu245Pro)
c.731T>C (p.Leu244Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870228T>GCA395982083SLC12A3c.734T>G (p.Leu245Arg)
c.731T>G (p.Leu244Arg)
16g.56870228T=CA2224349340SLC12A3c.734T= (p.Leu245=)
c.731T= (p.Leu244=)
16g.56870229G>ACA8069165SLC12A3c.735G>A (p.Leu245=)
c.732G>A (p.Leu244=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56870229G>CCA495603154SLC12A3c.735G>C (p.Leu245=)
c.732G>C (p.Leu244=)
dbSNP gnomAD v2
16g.56870229G=CA2224349341SLC12A3c.735G= (p.Leu245=)
c.732G= (p.Leu244=)
16g.56870229G>TCA495603155SLC12A3c.735G>T (p.Leu245=)
c.732G>T (p.Leu244=)
16g.56870230C>ACA395982084SLC12A3c.736C>A (p.Leu246Ile)
c.733C>A (p.Leu245Ile)
dbSNP gnomAD v4
16g.56870230C=CA2224349342SLC12A3c.736C= (p.Leu246=)
c.733C= (p.Leu245=)
16g.56870230C>GCA395982085SLC12A3c.736C>G (p.Leu246Val)
c.733C>G (p.Leu245Val)
16g.56870230C>TCA395982086SLC12A3c.736C>T (p.Leu246Phe)
c.733C>T (p.Leu245Phe)
gnomAD v4
16g.56870231T>ACA395982087SLC12A3c.737T>A (p.Leu246His)
c.734T>A (p.Leu245His)
16g.56870231T>CCA395982088SLC12A3c.737T>C (p.Leu246Pro)
c.734T>C (p.Leu245Pro)
gnomAD v4
16g.56870231T>GCA395982089SLC12A3c.737T>G (p.Leu246Arg)
c.734T>G (p.Leu245Arg)
16g.56870232C>ACA495603156SLC12A3c.738C>A (p.Leu246=)
c.735C>A (p.Leu245=)
dbSNP gnomAD v2
16g.56870232C=CA2224349343SLC12A3c.738C= (p.Leu246=)
c.735C= (p.Leu245=)
16g.56870232C>GCA495603158SLC12A3c.738C>G (p.Leu246=)
c.735C>G (p.Leu245=)
ClinVar dbSNP
16g.56870232C>TCA495603157SLC12A3c.738C>T (p.Leu246=)
c.735C>T (p.Leu245=)
ClinVar dbSNP
16g.56870233C>ACA395982090SLC12A3c.739C>A (p.Gln247Lys)
c.736C>A (p.Gln246Lys)
16g.56870233C>GCA395982091SLC12A3c.739C>G (p.Gln247Glu)
c.736C>G (p.Gln246Glu)
16g.56870233C>TCA395982092SLC12A3c.739C>T (p.Gln247Ter)
c.736C>T (p.Gln246Ter)
16g.56870234A>CCA395982093SLC12A3c.740A>C (p.Gln247Pro)
c.737A>C (p.Gln246Pro)
gnomAD v4
16g.56870234A>GCA395982094SLC12A3c.740A>G (p.Gln247Arg)
c.737A>G (p.Gln246Arg)
gnomAD v4
16g.56870234A>TCA395982095SLC12A3c.740A>T (p.Gln247Leu)
c.737A>T (p.Gln246Leu)
16g.56870235G>ACA495603159SLC12A3c.741G>A (p.Gln247=)
c.738G>A (p.Gln246=)
gnomAD v4
16g.56870235G>CCA395982096SLC12A3c.741G>C (p.Gln247His)
c.738G>C (p.Gln246His)
16g.56870235G>TCA395982097SLC12A3c.741G>T (p.Gln247His)
c.738G>T (p.Gln246His)
16g.56870236G>ACA395982098SLC12A3c.741+1G>A (n.741+1G>A)
c.738+1G>A (n.738+1G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56870236G>CCA395982100SLC12A3c.741+1G>C (n.741+1G>C)
c.738+1G>C (n.738+1G>C)
16g.56870236G=CA2224349344SLC12A3c.741+1G= (n.741+1G=)
c.738+1G= (n.738+1G=)
16g.56870236G>TCA395982099SLC12A3c.741+1G>T (n.741+1G>T)
c.738+1G>T (n.738+1G>T)
gnomAD v4
16g.56870237_56870240dupCA2633371272SLC12A3c.741+2_741+5dup (n.741+2_741+5dup)
c.738+2_738+5dup (n.738+2_738+5dup)
gnomAD v4
16g.56870237T>ACA395982101SLC12A3c.741+2T>A (n.741+2T>A)
c.738+2T>A (n.738+2T>A)
16g.56870237T>CCA395982102SLC12A3c.741+2T>C (n.741+2T>C)
c.738+2T>C (n.738+2T>C)
gnomAD v3 gnomAD v4
16g.56870237T>GCA395982103SLC12A3c.741+2T>G (n.741+2T>G)
c.738+2T>G (n.738+2T>G)
ClinVar gnomAD v4
16g.56870238G>ACA622333988SLC12A3c.741+3G>A (n.741+3G>A)
c.738+3G>A (n.738+3G>A)
dbSNP gnomAD v2 gnomAD v4
16g.56870238G=CA2224349345SLC12A3c.741+3G= (n.741+3G=)
c.738+3G= (n.738+3G=)
16g.56870238G>TCA2633371288SLC12A3c.741+3G>T (n.741+3G>T)
c.738+3G>T (n.738+3G>T)
gnomAD v4
16g.56870239A>CCA2633371290SLC12A3c.741+4A>C (n.741+4A>C)
c.738+4A>C (n.738+4A>C)
gnomAD v4
16g.56870239A>GCA2697555855SLC12A3c.741+4A>G (n.741+4A>G)
c.738+4A>G (n.738+4A>G)
ClinVar
16g.56870240G>ACA2633371291SLC12A3c.741+5G>A (n.741+5G>A)
c.738+5G>A (n.738+5G>A)
gnomAD v4
16g.56870241G>ACA977638134SLC12A3c.741+6G>A (n.741+6G>A)
c.738+6G>A (n.738+6G>A)
dbSNP gnomAD v3 gnomAD v4
16g.56870241G=CA2224349346SLC12A3c.741+6G= (n.741+6G=)
c.738+6G= (n.738+6G=)
16g.56870241G>TCA2633371292SLC12A3c.741+6G>T (n.741+6G>T)
c.738+6G>T (n.738+6G>T)
gnomAD v4
16g.56870242C>ACA2633371293SLC12A3c.741+7C>A (n.741+7C>A)
c.738+7C>A (n.738+7C>A)
gnomAD v4
16g.56870242C=CA2224349347SLC12A3c.741+7C= (n.741+7C=)
c.738+7C= (n.738+7C=)
16g.56870242C>TCA8069166SLC12A3c.741+7C>T (n.741+7C>T)
c.738+7C>T (n.738+7C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870243C>ACA722005303SLC12A3c.741+8C>A (n.741+8C>A)
c.738+8C>A (n.738+8C>A)
dbSNP
16g.56870243C=CA2224349349SLC12A3c.741+8C= (n.741+8C=)
c.738+8C= (n.738+8C=)
16g.56870243C>GCA8069169SLC12A3c.741+8C>G (n.741+8C>G)
c.738+8C>G (n.738+8C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870243C>TCA8069167SLC12A3c.741+8C>T (n.741+8C>T)
c.738+8C>T (n.738+8C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870243_56870244delinsCGCA2224349348SLC12A3c.741+8_741+9delinsCG (n.741+8_741+9delinsCG)
c.738+8_738+9delinsCG (n.738+8_738+9delinsCG)
16g.56870244G>ACA8069170SLC12A3c.741+9G>A (n.741+9G>A)
c.738+9G>A (n.738+9G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870244G=CA2224349350SLC12A3c.741+9G= (n.741+9G=)
c.738+9G= (n.738+9G=)
16g.56870244G>TCA622333994SLC12A3c.741+9G>T (n.741+9G>T)
c.738+9G>T (n.738+9G>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56870249dupCA622333997SLC12A3c.741+14dup (n.741+14dup)
c.738+14dup (n.738+14dup)
ClinVar gnomAD v2 gnomAD v4
16g.56870249delCA8069168SLC12A3c.741+14del (n.741+14del)
c.738+14del (n.738+14del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56870245G>ACA2576001961SLC12A3c.741+10G>A (n.741+10G>A)
c.738+10G>A (n.738+10G>A)
16g.56870245G>CCA2697555856SLC12A3c.741+10G>C (n.741+10G>C)
c.738+10G>C (n.738+10G>C)
ClinVar
16g.56870245G>TCA2633371304SLC12A3c.741+10G>T (n.741+10G>T)
c.738+10G>T (n.738+10G>T)
gnomAD v4
16g.56870246G>ACA977638150SLC12A3c.741+11G>A (n.741+11G>A)
c.738+11G>A (n.738+11G>A)
dbSNP gnomAD v3 gnomAD v4
16g.56870246G>CCA2633371306SLC12A3c.741+11G>C (n.741+11G>C)
c.738+11G>C (n.738+11G>C)
gnomAD v4
16g.56870246G=CA2224349351SLC12A3c.741+11G= (n.741+11G=)
c.738+11G= (n.738+11G=)
16g.56870246G>TCA2633371307SLC12A3c.741+11G>T (n.741+11G>T)
c.738+11G>T (n.738+11G>T)
gnomAD v4
16g.56870247G>TCA2576001963SLC12A3c.741+12G>T (n.741+12G>T)
c.738+12G>T (n.738+12G>T)
ClinVar gnomAD v4
16g.56870248G>ACA8069172SLC12A3c.741+13G>A (n.741+13G>A)
c.738+13G>A (n.738+13G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870248G=CA2224349352SLC12A3c.741+13G= (n.741+13G=)
c.738+13G= (n.738+13G=)
16g.56870248G>TCA8069171SLC12A3c.741+13G>T (n.741+13G>T)
c.738+13G>T (n.738+13G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56870249G>ACA8069173SLC12A3c.741+14G>A (n.741+14G>A)
c.738+14G>A (n.738+14G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870249G>CCA622334008SLC12A3c.741+14G>C (n.741+14G>C)
c.738+14G>C (n.738+14G>C)
dbSNP gnomAD v2 gnomAD v4
16g.56870249G=CA2224349353SLC12A3c.741+14G= (n.741+14G=)
c.738+14G= (n.738+14G=)
16g.56870249G>TCA2633371311SLC12A3c.741+14G>T (n.741+14G>T)
c.738+14G>T (n.738+14G>T)
gnomAD v4
16g.56870250C=CA2224349354SLC12A3c.741+15C= (n.741+15C=)
c.738+15C= (n.738+15C=)
16g.56870250C>TCA622334009SLC12A3c.741+15C>T (n.741+15C>T)
c.738+15C>T (n.738+15C>T)
dbSNP gnomAD v2 gnomAD v4
16g.56870252G>ACA2576001965SLC12A3c.741+17G>A (n.741+17G>A)
c.738+17G>A (n.738+17G>A)
gnomAD v4
16g.56870252G>TCA2633371313SLC12A3c.741+17G>T (n.741+17G>T)
c.738+17G>T (n.738+17G>T)
gnomAD v4
16g.56870253G>ACA2576001966SLC12A3c.741+18G>A (n.741+18G>A)
c.738+18G>A (n.738+18G>A)
16g.56870253G>CCA622334010SLC12A3c.741+18G>C (n.741+18G>C)
c.738+18G>C (n.738+18G>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56870253G=CA2224349355SLC12A3c.741+18G= (n.741+18G=)
c.738+18G= (n.738+18G=)
16g.56870253G>TCA2525600461SLC12A3c.741+18G>T (n.741+18G>T)
c.738+18G>T (n.738+18G>T)
gnomAD v4
16g.56870254A=CA2224349356SLC12A3c.741+19A= (n.741+19A=)
c.738+19A= (n.738+19A=)
16g.56870254A>GCA622334011SLC12A3c.741+19A>G (n.741+19A>G)
c.738+19A>G (n.738+19A>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56870255C>ACA8069175SLC12A3c.741+20C>A (n.741+20C>A)
c.738+20C>A (n.738+20C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56870255C=CA2224349357SLC12A3c.741+20C= (n.741+20C=)
c.738+20C= (n.738+20C=)
16g.56870255C>TCA8069174SLC12A3c.741+20C>T (n.741+20C>T)
c.738+20C>T (n.738+20C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56870256C>ACA2633371318SLC12A3c.741+21C>A (n.741+21C>A)
c.738+21C>A (n.738+21C>A)
gnomAD v4
16g.56870257C>ACA2633371320SLC12A3c.741+22C>A (n.741+22C>A)
c.738+22C>A (n.738+22C>A)
gnomAD v4
16g.56870257C=CA2224349358SLC12A3c.741+22C= (n.741+22C=)
c.738+22C= (n.738+22C=)
16g.56870257C>GCA2224349359SLC12A3c.741+22C>G (n.741+22C>G)
c.738+22C>G (n.738+22C>G)
dbSNP
16g.56870257C>TCA622334017SLC12A3c.741+22C>T (n.741+22C>T)
c.738+22C>T (n.738+22C>T)
dbSNP gnomAD v2 gnomAD v4
16g.56870258T>CCA2224349361SLC12A3c.741+23T>C (n.741+23T>C)
c.738+23T>C (n.738+23T>C)
dbSNP
16g.56870258T>GCA8069176SLC12A3c.741+23T>G (n.741+23T>G)
c.738+23T>G (n.738+23T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56870258T=CA2224349360SLC12A3c.741+23T= (n.741+23T=)
c.738+23T= (n.738+23T=)
16g.56870259G>ACA2633371326SLC12A3c.741+24G>A (n.741+24G>A)
c.738+24G>A (n.738+24G>A)
gnomAD v4
16g.56870259G>TCA2633371327SLC12A3c.741+24G>T (n.741+24G>T)
c.738+24G>T (n.738+24G>T)
gnomAD v4
16g.56870261delCA2633371325SLC12A3c.741+26del (n.741+26del)
c.738+26del (n.738+26del)
gnomAD v4
16g.56870260G>TCA2633371329SLC12A3c.741+25G>T (n.741+25G>T)
c.738+25G>T (n.738+25G>T)
gnomAD v4
16g.56870261G>ACA8069177SLC12A3c.741+26G>A (n.741+26G>A)
c.738+26G>A (n.738+26G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870261G=CA2224349362SLC12A3c.741+26G= (n.741+26G=)
c.738+26G= (n.738+26G=)
16g.56870262T>ACA8069178SLC12A3c.741+27T>A (n.741+27T>A)
c.738+27T>A (n.738+27T>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870262T>GCA2224349364SLC12A3c.741+27T>G (n.741+27T>G)
c.738+27T>G (n.738+27T>G)
dbSNP
16g.56870262T=CA2224349363SLC12A3c.741+27T= (n.741+27T=)
c.738+27T= (n.738+27T=)
16g.56870264G>TCA2633371333SLC12A3c.741+29G>T (n.741+29G>T)
c.738+29G>T (n.738+29G>T)
gnomAD v4
16g.56870266G>TCA2633371334SLC12A3c.741+31G>T (n.741+31G>T)
c.738+31G>T (n.738+31G>T)
gnomAD v4
16g.56870267G>TCA2633371335SLC12A3c.741+32G>T (n.741+32G>T)
c.738+32G>T (n.738+32G>T)
gnomAD v4
16g.56870268G>ACA622334025SLC12A3c.741+33G>A (n.741+33G>A)
c.738+33G>A (n.738+33G>A)
dbSNP gnomAD v2 gnomAD v4
16g.56870268G=CA2224349365SLC12A3c.741+33G= (n.741+33G=)
c.738+33G= (n.738+33G=)
16g.56870268G>TCA2633371337SLC12A3c.741+33G>T (n.741+33G>T)
c.738+33G>T (n.738+33G>T)
gnomAD v4
16g.56870269A>GCA2633371339SLC12A3c.741+34A>G (n.741+34A>G)
c.738+34A>G (n.738+34A>G)
gnomAD v4
16g.56870270T>GCA2576001975SLC12A3c.741+35T>G (n.741+35T>G)
c.738+35T>G (n.738+35T>G)
gnomAD v4
16g.56870271C>ACA2633371340SLC12A3c.741+36C>A (n.741+36C>A)
c.738+36C>A (n.738+36C>A)
gnomAD v4
16g.56870272C>ACA2807159830SLC12A3c.741+37C>A (n.741+37C>A)
c.738+37C>A (n.738+37C>A)
16g.56870272C=CA2224349366SLC12A3c.741+37C= (n.741+37C=)
c.738+37C= (n.738+37C=)
16g.56870272C>GCA722005344SLC12A3c.741+37C>G (n.741+37C>G)
c.738+37C>G (n.738+37C>G)
dbSNP gnomAD v3 gnomAD v4
16g.56870272C>TCA8069179SLC12A3c.741+37C>T (n.741+37C>T)
c.738+37C>T (n.738+37C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56870273G>ACA8069180SLC12A3c.741+38G>A (n.741+38G>A)
c.738+38G>A (n.738+38G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870273G>CCA622334029SLC12A3c.741+38G>C (n.741+38G>C)
c.738+38G>C (n.738+38G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56870273G=CA2224349367SLC12A3c.741+38G= (n.741+38G=)
c.738+38G= (n.738+38G=)
16g.56870273G>TCA2224349368SLC12A3c.741+38G>T (n.741+38G>T)
c.738+38G>T (n.738+38G>T)
dbSNP gnomAD v4
16g.56870274G>ACA722005353SLC12A3c.741+39G>A (n.741+39G>A)
c.738+39G>A (n.738+39G>A)
dbSNP gnomAD v3 gnomAD v4
16g.56870274G=CA2224349369SLC12A3c.741+39G= (n.741+39G=)
c.738+39G= (n.738+39G=)
16g.56870274G>TCA2633371344SLC12A3c.741+39G>T (n.741+39G>T)
c.738+39G>T (n.738+39G>T)
gnomAD v4
16g.56870275G>ACA622334031SLC12A3c.741+40G>A (n.741+40G>A)
c.738+40G>A (n.738+40G>A)
dbSNP gnomAD v2 gnomAD v4
16g.56870275G=CA2224349370SLC12A3c.741+40G= (n.741+40G=)
c.738+40G= (n.738+40G=)
16g.56870275G>TCA2633371346SLC12A3c.741+40G>T (n.741+40G>T)
c.738+40G>T (n.738+40G>T)
gnomAD v4
16g.56870276C>ACA2633371348SLC12A3c.741+41C>A (n.741+41C>A)
c.738+41C>A (n.738+41C>A)
gnomAD v4
16g.56870276C=CA2224349371SLC12A3c.741+41C= (n.741+41C=)
c.738+41C= (n.738+41C=)
16g.56870276C>TCA622334034SLC12A3c.741+41C>T (n.741+41C>T)
c.738+41C>T (n.738+41C>T)
dbSNP gnomAD v2 gnomAD v4
16g.56870278G>ACA8069181SLC12A3c.741+43G>A (n.741+43G>A)
c.738+43G>A (n.738+43G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56870278G=CA2224349372SLC12A3c.741+43G= (n.741+43G=)
c.738+43G= (n.738+43G=)
16g.56870278G>TCA2633371351SLC12A3c.741+43G>T (n.741+43G>T)
c.738+43G>T (n.738+43G>T)
gnomAD v4
16g.56870279C>TCA2633371353SLC12A3c.741+44C>T (n.741+44C>T)
c.738+44C>T (n.738+44C>T)
gnomAD v4
16g.56870280C>ACA977638165SLC12A3c.741+45C>A (n.741+45C>A)
c.738+45C>A (n.738+45C>A)
dbSNP
16g.56870280C=CA2224349373SLC12A3c.741+45C= (n.741+45C=)
c.738+45C= (n.738+45C=)
16g.56870281C>ACA2633371355SLC12A3c.741+46C>A (n.741+46C>A)
c.738+46C>A (n.738+46C>A)
gnomAD v4
16g.56870281C=CA2224349374SLC12A3c.741+46C= (n.741+46C=)
c.738+46C= (n.738+46C=)
16g.56870281C>TCA622334035SLC12A3c.741+46C>T (n.741+46C>T)
c.738+46C>T (n.738+46C>T)
dbSNP gnomAD v2 gnomAD v4
16g.56870283T>CCA8069182SLC12A3c.741+48T>C (n.741+48T>C)
c.738+48T>C (n.738+48T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870283T=CA2224349375SLC12A3c.741+48T= (n.741+48T=)
c.738+48T= (n.738+48T=)
16g.56870284T>CCA2633371357SLC12A3c.741+49T>C (n.741+49T>C)
c.738+49T>C (n.738+49T>C)
gnomAD v4
16g.56870285G>ACA622334038SLC12A3c.741+50G>A (n.741+50G>A)
c.738+50G>A (n.738+50G>A)
dbSNP gnomAD v2 gnomAD v4
16g.56870285G=CA2224349376SLC12A3c.741+50G= (n.741+50G=)
c.738+50G= (n.738+50G=)
16g.56870285G>TCA2633371359SLC12A3c.741+50G>T (n.741+50G>T)
c.738+50G>T (n.738+50G>T)
gnomAD v4
16g.56870286C>ACA2633371363SLC12A3c.741+51C>A (n.741+51C>A)
c.738+51C>A (n.738+51C>A)
gnomAD v4
16g.56870286C=CA2224349377SLC12A3c.741+51C= (n.741+51C=)
c.738+51C= (n.738+51C=)
16g.56870286C>TCA8069183SLC12A3c.741+51C>T (n.741+51C>T)
c.738+51C>T (n.738+51C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870287A=CA2224349378SLC12A3c.741+52A= (n.741+52A=)
c.738+52A= (n.738+52A=)
16g.56870287A>GCA2224349379SLC12A3c.741+52A>G (n.741+52A>G)
c.738+52A>G (n.738+52A>G)
dbSNP
16g.56870288C>ACA2633371366SLC12A3c.741+53C>A (n.741+53C>A)
c.738+53C>A (n.738+53C>A)
gnomAD v4
16g.56870288C>TCA2633371365SLC12A3c.741+53C>T (n.741+53C>T)
c.738+53C>T (n.738+53C>T)
gnomAD v4
16g.56870289T>CCA2633371368SLC12A3c.741+54T>C (n.741+54T>C)
c.738+54T>C (n.738+54T>C)
gnomAD v4
16g.56870289_56870292delinsTCTCCA2224349380SLC12A3c.741+54_741+57delinsTCTC (n.741+54_741+57delinsTCTC)
c.738+54_738+57delinsTCTC (n.738+54_738+57delinsTCTC)

Number of alleles fetched