Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.56863765_56872392delCA1139664706 ClinVar
16g.56869725_56869736delinsGCAGTCCTGACCCA2224349070SLC12A3c.506-4_513delinsGCAGTCCTGACC
c.503-4_510delinsGCAGTCCTGACC
16g.56869726_56869736delCA8069081SLC12A3c.506-3_513del
c.503-3_510del
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56869727A=CA2224349073SLC12A3c.506-2A= (n.506-2A=)
c.503-2A= (n.503-2A=)
16g.56869727A>CCA281496620SLC12A3c.506-2A>C (n.506-2A>C)
c.503-2A>C (n.503-2A>C)
dbSNP
16g.56869727A>GCA8069084SLC12A3c.506-2A>G (n.506-2A>G)
c.503-2A>G (n.503-2A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56869727A>TCA395980698SLC12A3c.506-2A>T (n.506-2A>T)
c.503-2A>T (n.503-2A>T)
16g.56869728G>ACA8069085SLC12A3c.506-1G>A (n.506-1G>A)
c.503-1G>A (n.503-1G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56869728G>CCA395980702SLC12A3c.506-1G>C (n.506-1G>C)
c.503-1G>C (n.503-1G>C)
16g.56869728G=CA2224349074SLC12A3c.506-1G= (n.506-1G=)
c.503-1G= (n.503-1G=)
16g.56869728G>TCA395980705SLC12A3c.506-1G>T (n.506-1G>T)
c.503-1G>T (n.503-1G>T)
gnomAD v4
16g.56869729T>ACA395980708SLC12A3c.506T>A (p.Val169Asp)
c.503T>A (p.Val168Asp)
16g.56869729T>CCA395980711SLC12A3c.506T>C (p.Val169Ala)
c.503T>C (p.Val168Ala)
16g.56869729T>GCA395980713SLC12A3c.506T>G (p.Val169Gly)
c.503T>G (p.Val168Gly)
16g.56869730C>ACA495602876SLC12A3c.507C>A (p.Val169=)
c.504C>A (p.Val168=)
ClinVar
16g.56869730C=CA2224349075SLC12A3c.507C= (p.Val169=)
c.504C= (p.Val168=)
16g.56869730C>GCA495602877SLC12A3c.507C>G (p.Val169=)
c.504C>G (p.Val168=)
16g.56869730C>TCA495602878SLC12A3c.507C>T (p.Val169=)
c.504C>T (p.Val168=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56869731C>ACA395980716SLC12A3c.508C>A (p.Leu170Met)
c.505C>A (p.Leu169Met)
16g.56869731C>GCA395980719SLC12A3c.508C>G (p.Leu170Val)
c.505C>G (p.Leu169Val)
16g.56869731C>TCA495602879SLC12A3c.508C>T (p.Leu170=)
c.505C>T (p.Leu169=)
ClinVar gnomAD v4
16g.56869732T>ACA395980722SLC12A3c.509T>A (p.Leu170Gln)
c.506T>A (p.Leu169Gln)
ClinVar dbSNP
16g.56869732T>CCA395980724SLC12A3c.509T>C (p.Leu170Pro)
c.506T>C (p.Leu169Pro)
ClinVar dbSNP gnomAD v4
16g.56869732T>GCA395980727SLC12A3c.509T>G (p.Leu170Arg)
c.506T>G (p.Leu169Arg)
16g.56869732T=CA2224349076SLC12A3c.509T= (p.Leu170=)
c.506T= (p.Leu169=)
16g.56869733G>ACA495602880SLC12A3c.510G>A (p.Leu170=)
c.507G>A (p.Leu169=)
ClinVar gnomAD v4
16g.56869733G>CCA495602881SLC12A3c.510G>C (p.Leu170=)
c.507G>C (p.Leu169=)
dbSNP gnomAD v2
16g.56869733G=CA2224349077SLC12A3c.510G= (p.Leu170=)
c.507G= (p.Leu169=)
16g.56869733G>TCA495602882SLC12A3c.510G>T (p.Leu170=)
c.507G>T (p.Leu169=)
gnomAD v4
16g.56869734A>CCA395980738SLC12A3c.511A>C (p.Thr171Pro)
c.508A>C (p.Thr170Pro)
16g.56869734A>GCA395980735SLC12A3c.511A>G (p.Thr171Ala)
c.508A>G (p.Thr170Ala)
16g.56869734A>TCA395980732SLC12A3c.511A>T (p.Thr171Ser)
c.508A>T (p.Thr170Ser)
16g.56869735C>ACA395980742SLC12A3c.512C>A (p.Thr171Asn)
c.509C>A (p.Thr170Asn)
ClinVar
16g.56869735C>GCA395980745SLC12A3c.512C>G (p.Thr171Ser)
c.509C>G (p.Thr170Ser)
gnomAD v4
16g.56869735C>TCA395980746SLC12A3c.512C>T (p.Thr171Ile)
c.509C>T (p.Thr170Ile)
gnomAD v4
16g.56869736C>ACA495602883SLC12A3c.513C>A (p.Thr171=)
c.510C>A (p.Thr170=)
16g.56869736C>GCA495602884SLC12A3c.513C>G (p.Thr171=)
c.510C>G (p.Thr170=)
16g.56869736C>TCA495602885SLC12A3c.513C>T (p.Thr171=)
c.510C>T (p.Thr170=)
16g.56869737T>ACA395980747SLC12A3c.514T>A (p.Trp172Arg)
c.511T>A (p.Trp171Arg)
gnomAD v4
16g.56869737T>CCA8069086SLC12A3c.514T>C (p.Trp172Arg)
c.511T>C (p.Trp171Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56869737T>GCA395980748SLC12A3c.514T>G (p.Trp172Gly)
c.511T>G (p.Trp171Gly)
16g.56869737T=CA2224349078SLC12A3c.514T= (p.Trp172=)
c.511T= (p.Trp171=)
16g.56869738G>ACA395980750SLC12A3c.515G>A (p.Trp172Ter)
c.512G>A (p.Trp171Ter)
16g.56869738G>CCA395980752SLC12A3c.515G>C (p.Trp172Ser)
c.512G>C (p.Trp171Ser)
gnomAD v4
16g.56869738G>TCA395980764SLC12A3c.515G>T (p.Trp172Leu)
c.512G>T (p.Trp171Leu)
16g.56869739G>ACA395980767SLC12A3c.516G>A (p.Trp172Ter)
c.513G>A (p.Trp171Ter)
COSMIC
16g.56869739G>CCA395980769SLC12A3c.516G>C (p.Trp172Cys)
c.513G>C (p.Trp171Cys)
16g.56869739G>TCA395980772SLC12A3c.516G>T (p.Trp172Cys)
c.513G>T (p.Trp171Cys)
16g.56869740A>CCA395980780SLC12A3c.517A>C (p.Ile173Leu)
c.514A>C (p.Ile172Leu)
16g.56869740A>GCA395980782SLC12A3c.517A>G (p.Ile173Val)
c.514A>G (p.Ile172Val)
16g.56869740A>TCA395980775SLC12A3c.517A>T (p.Ile173Phe)
c.514A>T (p.Ile172Phe)
16g.56869741T>ACA395980801SLC12A3c.518T>A (p.Ile173Asn)
c.515T>A (p.Ile172Asn)
16g.56869741T>CCA395980790SLC12A3c.518T>C (p.Ile173Thr)
c.515T>C (p.Ile172Thr)
16g.56869741T>GCA395980794SLC12A3c.518T>G (p.Ile173Ser)
c.515T>G (p.Ile172Ser)
16g.56869742C>ACA8069087SLC12A3c.519C>A (p.Ile173=)
c.516C>A (p.Ile172=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56869742C=CA2224349079SLC12A3c.519C= (p.Ile173=)
c.516C= (p.Ile172=)
16g.56869742C>GCA395980803SLC12A3c.519C>G (p.Ile173Met)
c.516C>G (p.Ile172Met)
16g.56869742C>TCA495602886SLC12A3c.519C>T (p.Ile173=)
c.516C>T (p.Ile172=)
16g.56869743A>CCA395980808SLC12A3c.520A>C (p.Ile174Leu)
c.517A>C (p.Ile173Leu)
16g.56869743A>GCA395980810SLC12A3c.520A>G (p.Ile174Val)
c.517A>G (p.Ile173Val)
gnomAD v4
16g.56869743A>TCA395980813SLC12A3c.520A>T (p.Ile174Phe)
c.517A>T (p.Ile173Phe)
16g.56869744T>ACA395980817SLC12A3c.521T>A (p.Ile174Asn)
c.518T>A (p.Ile173Asn)
16g.56869744T>CCA395980820SLC12A3c.521T>C (p.Ile174Thr)
c.518T>C (p.Ile173Thr)
16g.56869744T>GCA395980819SLC12A3c.521T>G (p.Ile174Ser)
c.518T>G (p.Ile173Ser)
gnomAD v4
16g.56869745C>ACA495602887SLC12A3c.522C>A (p.Ile174=)
c.519C>A (p.Ile173=)
16g.56869745C>GCA395980824SLC12A3c.522C>G (p.Ile174Met)
c.519C>G (p.Ile173Met)
16g.56869745C>TCA495602888SLC12A3c.522C>T (p.Ile174=)
c.519C>T (p.Ile173=)
ClinVar dbSNP gnomAD v4
16g.56869746A=CA2224349080SLC12A3c.523A= (p.Ile175=)
c.520A= (p.Ile174=)
16g.56869746A>CCA395980829SLC12A3c.523A>C (p.Ile175Leu)
c.520A>C (p.Ile174Leu)
16g.56869746A>GCA281496629SLC12A3c.523A>G (p.Ile175Val)
c.520A>G (p.Ile174Val)
dbSNP gnomAD v4
16g.56869746A>TCA395980843SLC12A3c.523A>T (p.Ile175Phe)
c.520A>T (p.Ile174Phe)
16g.56869747T>ACA395980848SLC12A3c.524T>A (p.Ile175Asn)
c.521T>A (p.Ile174Asn)
16g.56869747T>CCA395980852SLC12A3c.524T>C (p.Ile175Thr)
c.521T>C (p.Ile174Thr)
dbSNP gnomAD v4
16g.56869747T>GCA395980850SLC12A3c.524T>G (p.Ile175Ser)
c.521T>G (p.Ile174Ser)
16g.56869747T=CA2224349081SLC12A3c.524T= (p.Ile175=)
c.521T= (p.Ile174=)
16g.56869748C>ACA495602889SLC12A3c.525C>A (p.Ile175=)
c.522C>A (p.Ile174=)
dbSNP gnomAD v2
16g.56869748C=CA2224349082SLC12A3c.525C= (p.Ile175=)
c.522C= (p.Ile174=)
16g.56869748C>GCA395980854SLC12A3c.525C>G (p.Ile175Met)
c.522C>G (p.Ile174Met)
16g.56869748C>TCA495602890SLC12A3c.525C>T (p.Ile175=)
c.522C>T (p.Ile174=)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56869749C>ACA395980857SLC12A3c.526C>A (p.Leu176Met)
c.523C>A (p.Leu175Met)
16g.56869749C=CA2224349083SLC12A3c.526C= (p.Leu176=)
c.523C= (p.Leu175=)
16g.56869749C>GCA8069088SLC12A3c.526C>G (p.Leu176Val)
c.523C>G (p.Leu175Val)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56869749C>TCA495602891SLC12A3c.526C>T (p.Leu176=)
c.523C>T (p.Leu175=)
16g.56869750T>ACA395980858SLC12A3c.527T>A (p.Leu176Gln)
c.524T>A (p.Leu175Gln)
16g.56869750T>CCA395980861SLC12A3c.527T>C (p.Leu176Pro)
c.524T>C (p.Leu175Pro)
16g.56869750T>GCA395980864SLC12A3c.527T>G (p.Leu176Arg)
c.524T>G (p.Leu175Arg)
16g.56869751G>ACA495602892SLC12A3c.528G>A (p.Leu176=)
c.525G>A (p.Leu175=)
16g.56869751G>CCA495602894SLC12A3c.528G>C (p.Leu176=)
c.525G>C (p.Leu175=)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56869751G=CA2224349084SLC12A3c.528G= (p.Leu176=)
c.525G= (p.Leu175=)
16g.56869751G>TCA495602893SLC12A3c.528G>T (p.Leu176=)
c.525G>T (p.Leu175=)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56869752C>ACA395980867SLC12A3c.529C>A (p.Leu177Met)
c.526C>A (p.Leu176Met)
16g.56869752C=CA2224349085SLC12A3c.529C= (p.Leu177=)
c.526C= (p.Leu176=)
16g.56869752C>GCA395980868SLC12A3c.529C>G (p.Leu177Val)
c.526C>G (p.Leu176Val)
16g.56869752C>TCA495602895SLC12A3c.529C>T (p.Leu177=)
c.526C>T (p.Leu176=)
dbSNP gnomAD v4
16g.56869753T>ACA395980869SLC12A3c.530T>A (p.Leu177Gln)
c.527T>A (p.Leu176Gln)
16g.56869753T>CCA395980870SLC12A3c.530T>C (p.Leu177Pro)
c.527T>C (p.Leu176Pro)
gnomAD v4
16g.56869753T>GCA395980872SLC12A3c.530T>G (p.Leu177Arg)
c.527T>G (p.Leu176Arg)
16g.56869754G>ACA495602896SLC12A3c.531G>A (p.Leu177=)
c.528G>A (p.Leu176=)
ClinVar dbSNP gnomAD v4
16g.56869754G>CCA495602897SLC12A3c.531G>C (p.Leu177=)
c.528G>C (p.Leu176=)
16g.56869754G>TCA495602898SLC12A3c.531G>T (p.Leu177=)
c.528G>T (p.Leu176=)
ClinVar gnomAD v4
16g.56869755T>ACA395980882SLC12A3c.532T>A (p.Ser178Thr)
c.529T>A (p.Ser177Thr)
16g.56869755T>CCA395980879SLC12A3c.532T>C (p.Ser178Pro)
c.529T>C (p.Ser177Pro)
dbSNP
16g.56869755T>GCA395980874SLC12A3c.532T>G (p.Ser178Ala)
c.529T>G (p.Ser177Ala)
16g.56869755T=CA2224349086SLC12A3c.532T= (p.Ser178=)
c.529T= (p.Ser177=)
16g.56869756C>ACA395980883SLC12A3c.533C>A (p.Ser178Ter)
c.530C>A (p.Ser177Ter)
16g.56869756C=CA2224349087SLC12A3c.533C= (p.Ser178=)
c.530C= (p.Ser177=)
16g.56869756C>GCA395980884SLC12A3c.533C>G (p.Ser178Trp)
c.530C>G (p.Ser177Trp)
ClinVar gnomAD v4 COSMIC
16g.56869756C>TCA8069089SLC12A3c.533C>T (p.Ser178Leu)
c.530C>T (p.Ser177Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56869757G>ACA8069090SLC12A3c.534G>A (p.Ser178=)
c.531G>A (p.Ser177=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56869757G>CCA495602899SLC12A3c.534G>C (p.Ser178=)
c.531G>C (p.Ser177=)
16g.56869757G=CA2224349088SLC12A3c.534G= (p.Ser178=)
c.531G= (p.Ser177=)
16g.56869757G>TCA495602900SLC12A3c.534G>T (p.Ser178=)
c.531G>T (p.Ser177=)
COSMIC
16g.56869758G>ACA395980890SLC12A3c.535G>A (p.Val179Ile)
c.532G>A (p.Val178Ile)
16g.56869758G>CCA395980893SLC12A3c.535G>C (p.Val179Leu)
c.532G>C (p.Val178Leu)
16g.56869758G>TCA395980895SLC12A3c.535G>T (p.Val179Phe)
c.532G>T (p.Val178Phe)
16g.56869759T>ACA395980898SLC12A3c.536T>A (p.Val179Asp)
c.533T>A (p.Val178Asp)
ClinVar dbSNP gnomAD v4
16g.56869759T>CCA395980900SLC12A3c.536T>C (p.Val179Ala)
c.533T>C (p.Val178Ala)
16g.56869759T>GCA395980903SLC12A3c.536T>G (p.Val179Gly)
c.533T>G (p.Val178Gly)
16g.56869759T=CA2224349089SLC12A3c.536T= (p.Val179=)
c.533T= (p.Val178=)
16g.56869760C>ACA495602901SLC12A3c.537C>A (p.Val179=)
c.534C>A (p.Val178=)
16g.56869760C=CA2224349090SLC12A3c.537C= (p.Val179=)
c.534C= (p.Val178=)
16g.56869760C>GCA495602902SLC12A3c.537C>G (p.Val179=)
c.534C>G (p.Val178=)
16g.56869760C>TCA495602903SLC12A3c.537C>T (p.Val179=)
c.534C>T (p.Val178=)
dbSNP gnomAD v3 gnomAD v4
16g.56869761A>CCA395980906SLC12A3c.538A>C (p.Thr180Pro)
c.535A>C (p.Thr179Pro)
16g.56869761A>GCA395980908SLC12A3c.538A>G (p.Thr180Ala)
c.535A>G (p.Thr179Ala)
16g.56869761A>TCA395980911SLC12A3c.538A>T (p.Thr180Ser)
c.535A>T (p.Thr179Ser)
ClinVar
16g.56869761_56869766delinsACGGTGCA2224349091SLC12A3c.538_543delinsACGGTG (p.Thr180=)
c.535_540delinsACGGTG (p.Thr179=)
16g.56869762C>ACA8069091SLC12A3c.539C>A (p.Thr180Lys)
c.536C>A (p.Thr179Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56869762C=CA2224349092SLC12A3c.539C= (p.Thr180=)
c.536C= (p.Thr179=)
16g.56869762C>GCA8069093SLC12A3c.539C>G (p.Thr180Arg)
c.536C>G (p.Thr179Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56869762C>TCA8069092SLC12A3c.539C>T (p.Thr180Met)
c.536C>T (p.Thr179Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56869762_56869766delCA622333567SLC12A3c.539_543del (p.Thr180AsnfsTer?)
c.536_540del (p.Thr179AsnfsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56869763G>ACA281496642SLC12A3c.540G>A (p.Thr180=)
c.537G>A (p.Thr179=)
dbSNP gnomAD v2 gnomAD v4
16g.56869763G>CCA495602904SLC12A3c.540G>C (p.Thr180=)
c.537G>C (p.Thr179=)
16g.56869763G=CA2224349093SLC12A3c.540G= (p.Thr180=)
c.537G= (p.Thr179=)
16g.56869763G>TCA495602905SLC12A3c.540G>T (p.Thr180=)
c.537G>T (p.Thr179=)
ClinVar dbSNP gnomAD v4
16g.56869764delCA2633370204SLC12A3c.541del (p.Val181Ter)
c.538del (p.Val180Ter)
gnomAD v4
16g.56869764G>ACA395980924SLC12A3c.541G>A (p.Val181Met)
c.538G>A (p.Val180Met)
16g.56869764G>CCA395980926SLC12A3c.541G>C (p.Val181Leu)
c.538G>C (p.Val180Leu)
16g.56869764G=CA2224349094SLC12A3c.541G= (p.Val181=)
c.538G= (p.Val180=)
16g.56869764G>TCA8069094SLC12A3c.541G>T (p.Val181Leu)
c.538G>T (p.Val180Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56869765T>ACA395980931SLC12A3c.542T>A (p.Val181Glu)
c.539T>A (p.Val180Glu)
16g.56869765T>CCA395980934SLC12A3c.542T>C (p.Val181Ala)
c.539T>C (p.Val180Ala)
16g.56869765T>GCA395980938SLC12A3c.542T>G (p.Val181Gly)
c.539T>G (p.Val180Gly)
16g.56869766G>ACA495602906SLC12A3c.543G>A (p.Val181=)
c.540G>A (p.Val180=)
16g.56869766G>CCA495602907SLC12A3c.543G>C (p.Val181=)
c.540G>C (p.Val180=)
16g.56869766G>TCA495602908SLC12A3c.543G>T (p.Val181=)
c.540G>T (p.Val180=)
16g.56869767A>CCA395980941SLC12A3c.544A>C (p.Thr182Pro)
c.541A>C (p.Thr181Pro)
16g.56869767A>GCA395980942SLC12A3c.544A>G (p.Thr182Ala)
c.541A>G (p.Thr181Ala)
16g.56869767A>TCA395980944SLC12A3c.544A>T (p.Thr182Ser)
c.541A>T (p.Thr181Ser)
16g.56869768C>ACA395980945SLC12A3c.545C>A (p.Thr182Asn)
c.542C>A (p.Thr181Asn)
16g.56869768C=CA2224349095SLC12A3c.545C= (p.Thr182=)
c.542C= (p.Thr181=)
16g.56869768C>GCA395980946SLC12A3c.545C>G (p.Thr182Ser)
c.542C>G (p.Thr181Ser)
16g.56869768C>TCA395980947SLC12A3c.545C>T (p.Thr182Ile)
c.542C>T (p.Thr181Ile)
16g.56869769C>ACA495602909SLC12A3c.546C>A (p.Thr182=)
c.543C>A (p.Thr181=)
16g.56869769C>GCA495602910SLC12A3c.546C>G (p.Thr182=)
c.543C>G (p.Thr181=)
16g.56869769C>TCA495602911SLC12A3c.546C>T (p.Thr182=)
c.543C>T (p.Thr181=)
16g.56869770_56869771dupCA8069095SLC12A3c.547_548dup (p.Ile184ProfsTer?)
c.544_545dup (p.Ile183ProfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56869770T>ACA395980955SLC12A3c.547T>A (p.Ser183Thr)
c.544T>A (p.Ser182Thr)
16g.56869770T>CCA395980957SLC12A3c.547T>C (p.Ser183Pro)
c.544T>C (p.Ser182Pro)
16g.56869770T>GCA395980950SLC12A3c.547T>G (p.Ser183Ala)
c.544T>G (p.Ser182Ala)
16g.56869772_56869775dupCA2695223667SLC12A3c.549_552dup (p.Thr185HisfsTer?)
c.546_549dup (p.Thr184HisfsTer?)
16g.56869771C>ACA395980961SLC12A3c.548C>A (p.Ser183Tyr)
c.545C>A (p.Ser182Tyr)
16g.56869771C=CA2224349096SLC12A3c.548C= (p.Ser183=)
c.545C= (p.Ser182=)
16g.56869771C>GCA395980959SLC12A3c.548C>G (p.Ser183Cys)
c.545C>G (p.Ser182Cys)
16g.56869771C>TCA8069096SLC12A3c.548C>T (p.Ser183Phe)
c.545C>T (p.Ser182Phe)
dbSNP ExAC gnomAD v2
16g.56869772C>ACA495602912SLC12A3c.549C>A (p.Ser183=)
c.546C>A (p.Ser182=)
16g.56869772C>GCA495602914SLC12A3c.549C>G (p.Ser183=)
c.546C>G (p.Ser182=)
16g.56869772C>TCA495602913SLC12A3c.549C>T (p.Ser183=)
c.546C>T (p.Ser182=)
16g.56869773A>CCA395980965SLC12A3c.550A>C (p.Ile184Leu)
c.547A>C (p.Ile183Leu)
gnomAD v4
16g.56869773A>GCA395980967SLC12A3c.550A>G (p.Ile184Val)
c.547A>G (p.Ile183Val)
16g.56869773A>TCA395980969SLC12A3c.550A>T (p.Ile184Phe)
c.547A>T (p.Ile183Phe)
16g.56869774T>ACA395980971SLC12A3c.551T>A (p.Ile184Asn)
c.548T>A (p.Ile183Asn)
16g.56869774T>CCA395980973SLC12A3c.551T>C (p.Ile184Thr)
c.548T>C (p.Ile183Thr)
16g.56869774T>GCA395980974SLC12A3c.551T>G (p.Ile184Ser)
c.548T>G (p.Ile183Ser)
16g.56869775C>ACA495602915SLC12A3c.552C>A (p.Ile184=)
c.549C>A (p.Ile183=)
16g.56869775C=CA2224349097SLC12A3c.552C= (p.Ile184=)
c.549C= (p.Ile183=)
16g.56869775C>GCA395980975SLC12A3c.552C>G (p.Ile184Met)
c.549C>G (p.Ile183Met)
16g.56869775C>TCA495602916SLC12A3c.552C>T (p.Ile184=)
c.549C>T (p.Ile183=)
dbSNP
16g.56869776A>CCA395980977SLC12A3c.553A>C (p.Thr185Pro)
c.550A>C (p.Thr184Pro)
16g.56869776A>GCA395980981SLC12A3c.553A>G (p.Thr185Ala)
c.550A>G (p.Thr184Ala)
16g.56869776A>TCA395980979SLC12A3c.553A>T (p.Thr185Ser)
c.550A>T (p.Thr184Ser)
16g.56869777C>ACA395980983SLC12A3c.554C>A (p.Thr185Lys)
c.551C>A (p.Thr184Lys)
16g.56869777C>GCA395980985SLC12A3c.554C>G (p.Thr185Arg)
c.551C>G (p.Thr184Arg)
16g.56869777C>TCA395980987SLC12A3c.554C>T (p.Thr185Ile)
c.551C>T (p.Thr184Ile)
16g.56869777_56869779delinsCAGCA2224349098SLC12A3c.554_556delinsCAG (p.Thr185=)
c.551_553delinsCAG (p.Thr184=)
16g.56869778A>CCA495602917SLC12A3c.555A>C (p.Thr185=)
c.552A>C (p.Thr184=)
16g.56869778A>GCA495602918SLC12A3c.555A>G (p.Thr185=)
c.552A>G (p.Thr184=)
16g.56869778A>TCA495602919SLC12A3c.555A>T (p.Thr185=)
c.552A>T (p.Thr184=)
16g.56869778_56869779delCA8069097SLC12A3c.555_556del (p.Gly186ProfsTer?)
c.552_553del (p.Gly185ProfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56869779G>ACA8069098SLC12A3c.556G>A (p.Gly186Ser)
c.553G>A (p.Gly185Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56869779G>CCA395980989SLC12A3c.556G>C (p.Gly186Arg)
c.553G>C (p.Gly185Arg)
16g.56869779G=CA2224349099SLC12A3c.556G= (p.Gly186=)
c.553G= (p.Gly185=)
16g.56869779G>TCA395980990SLC12A3c.556G>T (p.Gly186Cys)
c.553G>T (p.Gly185Cys)
16g.56869780G>ACA281496657SLC12A3c.557G>A (p.Gly186Asp)
c.554G>A (p.Gly185Asp)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56869780G>CCA8069099SLC12A3c.557G>C (p.Gly186Ala)
c.554G>C (p.Gly185Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56869780G=CA2224349100SLC12A3c.557G= (p.Gly186=)
c.554G= (p.Gly185=)
16g.56869780G>TCA395980993SLC12A3c.557G>T (p.Gly186Val)
c.554G>T (p.Gly185Val)
gnomAD v4
16g.56869781C>ACA8069100SLC12A3c.558C>A (p.Gly186=)
c.555C>A (p.Gly185=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56869781C=CA2224349101SLC12A3c.558C= (p.Gly186=)
c.555C= (p.Gly185=)
16g.56869781C>GCA495602920SLC12A3c.558C>G (p.Gly186=)
c.555C>G (p.Gly185=)
16g.56869781C>TCA495602921SLC12A3c.558C>T (p.Gly186=)
c.555C>T (p.Gly185=)
ClinVar gnomAD v4
16g.56869782C>ACA395980997SLC12A3c.559C>A (p.Leu187Ile)
c.556C>A (p.Leu186Ile)
16g.56869782C>GCA395981000SLC12A3c.559C>G (p.Leu187Val)
c.556C>G (p.Leu186Val)
16g.56869782C>TCA395981002SLC12A3c.559C>T (p.Leu187Phe)
c.556C>T (p.Leu186Phe)
gnomAD v4
16g.56869783T>ACA395981004SLC12A3c.560T>A (p.Leu187His)
c.557T>A (p.Leu186His)
16g.56869783T>CCA395981006SLC12A3c.560T>C (p.Leu187Pro)
c.557T>C (p.Leu186Pro)
16g.56869783T>GCA395981008SLC12A3c.560T>G (p.Leu187Arg)
c.557T>G (p.Leu186Arg)
16g.56869784C>ACA495602922SLC12A3c.561C>A (p.Leu187=)
c.558C>A (p.Leu186=)
COSMIC
16g.56869784C=CA2224349102SLC12A3c.561C= (p.Leu187=)
c.558C= (p.Leu186=)
16g.56869784C>GCA495602923SLC12A3c.561C>G (p.Leu187=)
c.558C>G (p.Leu186=)
dbSNP
16g.56869784C>TCA495602924SLC12A3c.561C>T (p.Leu187=)
c.558C>T (p.Leu186=)
gnomAD v4
16g.56869785T>ACA395981012SLC12A3c.562T>A (p.Ser188Thr)
c.559T>A (p.Ser187Thr)
16g.56869785T>CCA395981015SLC12A3c.562T>C (p.Ser188Pro)
c.559T>C (p.Ser187Pro)
16g.56869785T>GCA395981017SLC12A3c.562T>G (p.Ser188Ala)
c.559T>G (p.Ser187Ala)
16g.56869785_56869786delinsTCCA2224349103SLC12A3c.562_563delinsTC (p.Ser188=)
c.559_560delinsTC (p.Ser187=)
16g.56869786C>ACA395981020SLC12A3c.563C>A (p.Ser188Tyr)
c.560C>A (p.Ser187Tyr)
16g.56869786C=CA2224349104SLC12A3c.563C= (p.Ser188=)
c.560C= (p.Ser187=)
16g.56869786C>GCA395981023SLC12A3c.563C>G (p.Ser188Cys)
c.560C>G (p.Ser187Cys)
16g.56869786C>TCA8069102SLC12A3c.563C>T (p.Ser188Phe)
c.560C>T (p.Ser187Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56869787delCA8069101SLC12A3c.564del (p.Ile189SerfsTer?)
c.561del (p.Ile188SerfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56869787C>ACA495602925SLC12A3c.564C>A (p.Ser188=)
c.561C>A (p.Ser187=)
dbSNP
16g.56869787C=CA2224349105SLC12A3c.564C= (p.Ser188=)
c.561C= (p.Ser187=)
16g.56869787C>GCA495602926SLC12A3c.564C>G (p.Ser188=)
c.561C>G (p.Ser187=)
16g.56869787C>TCA495602927SLC12A3c.564C>T (p.Ser188=)
c.561C>T (p.Ser187=)
16g.56869788A>CCA395981026SLC12A3c.565A>C (p.Ile189Leu)
c.562A>C (p.Ile188Leu)
16g.56869788A>GCA395981027SLC12A3c.565A>G (p.Ile189Val)
c.562A>G (p.Ile188Val)
gnomAD v4
16g.56869788A>TCA395981031SLC12A3c.565A>T (p.Ile189Phe)
c.562A>T (p.Ile188Phe)
16g.56869789T>ACA395981034SLC12A3c.566T>A (p.Ile189Asn)
c.563T>A (p.Ile188Asn)
16g.56869789T>CCA395981036SLC12A3c.566T>C (p.Ile189Thr)
c.563T>C (p.Ile188Thr)
16g.56869789T>GCA395981038SLC12A3c.566T>G (p.Ile189Ser)
c.563T>G (p.Ile188Ser)
16g.56869790C>ACA495602928SLC12A3c.567C>A (p.Ile189=)
c.564C>A (p.Ile188=)
16g.56869790C>GCA395981041SLC12A3c.567C>G (p.Ile189Met)
c.564C>G (p.Ile188Met)
16g.56869790C>TCA495602929SLC12A3c.567C>T (p.Ile189=)
c.564C>T (p.Ile188=)
ClinVar gnomAD v4 COSMIC
16g.56869791T>ACA395981045SLC12A3c.568T>A (p.Ser190Thr)
c.565T>A (p.Ser189Thr)
16g.56869791T>CCA395981048SLC12A3c.568T>C (p.Ser190Pro)
c.565T>C (p.Ser189Pro)
16g.56869791T>GCA395981049SLC12A3c.568T>G (p.Ser190Ala)
c.565T>G (p.Ser189Ala)
gnomAD v4
16g.56869792C>ACA395981053SLC12A3c.569C>A (p.Ser190Ter)
c.566C>A (p.Ser189Ter)
ClinVar dbSNP
16g.56869792C>GCA395981051SLC12A3c.569C>G (p.Ser190Ter)
c.566C>G (p.Ser189Ter)
16g.56869792C>TCA395981050SLC12A3c.569C>T (p.Ser190Leu)
c.566C>T (p.Ser189Leu)
COSMIC
16g.56869793A=CA2224349106SLC12A3c.570A= (p.Ser190=)
c.567A= (p.Ser189=)
16g.56869793A>CCA8069103SLC12A3c.570A>C (p.Ser190=)
c.567A>C (p.Ser189=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56869793A>GCA495602931SLC12A3c.570A>G (p.Ser190=)
c.567A>G (p.Ser189=)
16g.56869793A>TCA495602930SLC12A3c.570A>T (p.Ser190=)
c.567A>T (p.Ser189=)
16g.56869794G>ACA395981058SLC12A3c.571G>A (p.Ala191Thr)
c.568G>A (p.Ala190Thr)
16g.56869794G>CCA395981060SLC12A3c.571G>C (p.Ala191Pro)
c.568G>C (p.Ala190Pro)
16g.56869794G>TCA395981062SLC12A3c.571G>T (p.Ala191Ser)
c.568G>T (p.Ala190Ser)
16g.56869795C>ACA395981064SLC12A3c.572C>A (p.Ala191Asp)
c.569C>A (p.Ala190Asp)
16g.56869795C>GCA395981068SLC12A3c.572C>G (p.Ala191Gly)
c.569C>G (p.Ala190Gly)
16g.56869795C>TCA395981072SLC12A3c.572C>T (p.Ala191Val)
c.569C>T (p.Ala190Val)
16g.56869796C>ACA495602932SLC12A3c.573C>A (p.Ala191=)
c.570C>A (p.Ala190=)
16g.56869796C>GCA495602933SLC12A3c.573C>G (p.Ala191=)
c.570C>G (p.Ala190=)
16g.56869796C>TCA495602934SLC12A3c.573C>T (p.Ala191=)
c.570C>T (p.Ala190=)
16g.56869797A=CA2224349107SLC12A3c.574A= (p.Ile192=)
c.571A= (p.Ile191=)
16g.56869797A>CCA395981080SLC12A3c.574A>C (p.Ile192Leu)
c.571A>C (p.Ile191Leu)
16g.56869797A>GCA395981084SLC12A3c.574A>G (p.Ile192Val)
c.571A>G (p.Ile191Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56869797A>TCA395981088SLC12A3c.574A>T (p.Ile192Phe)
c.571A>T (p.Ile191Phe)
16g.56869798T>ACA395981091SLC12A3c.575T>A (p.Ile192Asn)
c.572T>A (p.Ile191Asn)
16g.56869798T>CCA395981098SLC12A3c.575T>C (p.Ile192Thr)
c.572T>C (p.Ile191Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56869798T>GCA395981100SLC12A3c.575T>G (p.Ile192Ser)
c.572T>G (p.Ile191Ser)
16g.56869798T=CA2224349108SLC12A3c.575T= (p.Ile192=)
c.572T= (p.Ile191=)
16g.56869799C>ACA495602935SLC12A3c.576C>A (p.Ile192=)
c.573C>A (p.Ile191=)
16g.56869799C>GCA395981105SLC12A3c.576C>G (p.Ile192Met)
c.573C>G (p.Ile191Met)
gnomAD v4
16g.56869799C>TCA495602936SLC12A3c.576C>T (p.Ile192=)
c.573C>T (p.Ile191=)
16g.56869800T>ACA395981112SLC12A3c.577T>A (p.Ser193Thr)
c.574T>A (p.Ser192Thr)
16g.56869800T>CCA395981109SLC12A3c.577T>C (p.Ser193Pro)
c.574T>C (p.Ser192Pro)
16g.56869800T>GCA395981114SLC12A3c.577T>G (p.Ser193Ala)
c.574T>G (p.Ser192Ala)
16g.56869801C>ACA395981117SLC12A3c.578C>A (p.Ser193Tyr)
c.575C>A (p.Ser192Tyr)
gnomAD v4
16g.56869801C=CA2224349109SLC12A3c.578C= (p.Ser193=)
c.575C= (p.Ser192=)
16g.56869801C>GCA395981120SLC12A3c.578C>G (p.Ser193Cys)
c.575C>G (p.Ser192Cys)
16g.56869801C>TCA395981121SLC12A3c.578C>T (p.Ser193Phe)
c.575C>T (p.Ser192Phe)
dbSNP gnomAD v3 gnomAD v4
16g.56869804_56869806delCA2695223668SLC12A3c.581_583del (p.Thr194del)
c.578_580del (p.Thr193del)
16g.56869802C>ACA495602937SLC12A3c.579C>A (p.Ser193=)
c.576C>A (p.Ser192=)
16g.56869802C>GCA495602938SLC12A3c.579C>G (p.Ser193=)
c.576C>G (p.Ser192=)
16g.56869802C>TCA495602939SLC12A3c.579C>T (p.Ser193=)
c.576C>T (p.Ser192=)
16g.56869803A>CCA395981122SLC12A3c.580A>C (p.Thr194Pro)
c.577A>C (p.Thr193Pro)
16g.56869803A>GCA395981124SLC12A3c.580A>G (p.Thr194Ala)
c.577A>G (p.Thr193Ala)
16g.56869803A>TCA395981128SLC12A3c.580A>T (p.Thr194Ser)
c.577A>T (p.Thr193Ser)
16g.56869804C>ACA395981130SLC12A3c.581C>A (p.Thr194Asn)
c.578C>A (p.Thr193Asn)
16g.56869804C>GCA395981133SLC12A3c.581C>G (p.Thr194Ser)
c.578C>G (p.Thr193Ser)
16g.56869804C>TCA395981135SLC12A3c.581C>T (p.Thr194Ile)
c.578C>T (p.Thr193Ile)
ClinVar gnomAD v4
16g.56869805C>ACA495602940SLC12A3c.582C>A (p.Thr194=)
c.579C>A (p.Thr193=)
gnomAD v4
16g.56869805C>GCA495602941SLC12A3c.582C>G (p.Thr194=)
c.579C>G (p.Thr193=)
ClinVar
16g.56869805C>TCA495602942SLC12A3c.582C>T (p.Thr194=)
c.579C>T (p.Thr193=)
16g.56869806A=CA2224349110SLC12A3c.583A= (p.Asn195=)
c.580A= (p.Asn194=)
16g.56869806A>CCA395981137SLC12A3c.583A>C (p.Asn195His)
c.580A>C (p.Asn194His)
16g.56869806A>GCA395981139SLC12A3c.583A>G (p.Asn195Asp)
c.580A>G (p.Asn194Asp)
dbSNP
16g.56869806A>TCA395981140SLC12A3c.583A>T (p.Asn195Tyr)
c.580A>T (p.Asn194Tyr)
16g.56869807A>CCA395981151SLC12A3c.584A>C (p.Asn195Thr)
c.581A>C (p.Asn194Thr)
16g.56869807A>GCA395981141SLC12A3c.584A>G (p.Asn195Ser)
c.581A>G (p.Asn194Ser)
16g.56869807A>TCA395981143SLC12A3c.584A>T (p.Asn195Ile)
c.581A>T (p.Asn194Ile)
16g.56869808T>ACA395981154SLC12A3c.585T>A (p.Asn195Lys)
c.582T>A (p.Asn194Lys)
16g.56869808T>CCA495602943SLC12A3c.585T>C (p.Asn195=)
c.582T>C (p.Asn194=)
dbSNP
16g.56869808T>GCA395981158SLC12A3c.585T>G (p.Asn195Lys)
c.582T>G (p.Asn194Lys)
16g.56869808T=CA2224349111SLC12A3c.585T= (p.Asn195=)
c.582T= (p.Asn194=)
16g.56869809G>ACA395981162SLC12A3c.586G>A (p.Gly196Ser)
c.583G>A (p.Gly195Ser)
gnomAD v4
16g.56869809G>CCA395981171SLC12A3c.586G>C (p.Gly196Arg)
c.583G>C (p.Gly195Arg)
16g.56869809G>TCA395981174SLC12A3c.586G>T (p.Gly196Cys)
c.583G>T (p.Gly195Cys)
16g.56869810G>ACA395981178SLC12A3c.587G>A (p.Gly196Asp)
c.584G>A (p.Gly195Asp)
gnomAD v4
16g.56869810G>CCA395981179SLC12A3c.587G>C (p.Gly196Ala)
c.584G>C (p.Gly195Ala)
16g.56869810G=CA2224349112SLC12A3c.587G= (p.Gly196=)
c.584G= (p.Gly195=)
16g.56869810G>TCA395981182SLC12A3c.587G>T (p.Gly196Val)
c.584G>T (p.Gly195Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56869811C>ACA495602944SLC12A3c.588C>A (p.Gly196=)
c.585C>A (p.Gly195=)
gnomAD v4
16g.56869811C>GCA495602945SLC12A3c.588C>G (p.Gly196=)
c.585C>G (p.Gly195=)
16g.56869811C>TCA495602946SLC12A3c.588C>T (p.Gly196=)
c.585C>T (p.Gly195=)
16g.56869812A>CCA395981194SLC12A3c.589A>C (p.Lys197Gln)
c.586A>C (p.Lys196Gln)
16g.56869812A>GCA395981195SLC12A3c.589A>G (p.Lys197Glu)
c.586A>G (p.Lys196Glu)
16g.56869812A>TCA395981199SLC12A3c.589A>T (p.Lys197Ter)
c.586A>T (p.Lys196Ter)
16g.56869813A>CCA395981205SLC12A3c.590A>C (p.Lys197Thr)
c.587A>C (p.Lys196Thr)
16g.56869813A>GCA395981208SLC12A3c.590A>G (p.Lys197Arg)
c.587A>G (p.Lys196Arg)
16g.56869813A>TCA395981203SLC12A3c.590A>T (p.Lys197Met)
c.587A>T (p.Lys196Met)
16g.56869814G>ACA495602947SLC12A3c.591G>A (p.Lys197=)
c.588G>A (p.Lys196=)
16g.56869814G>CCA395981211SLC12A3c.591G>C (p.Lys197Asn)
c.588G>C (p.Lys196Asn)
16g.56869814G=CA2224349113SLC12A3c.591G= (p.Lys197=)
c.588G= (p.Lys196=)
16g.56869814G>TCA395981214SLC12A3c.591G>T (p.Lys197Asn)
c.588G>T (p.Lys196Asn)
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.56869815G>ACA8069104SLC12A3c.592G>A (p.Val198Ile)
c.589G>A (p.Val197Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56869815G>CCA395981218SLC12A3c.592G>C (p.Val198Leu)
c.589G>C (p.Val197Leu)
16g.56869815G=CA2224349114SLC12A3c.592G= (p.Val198=)
c.589G= (p.Val197=)
16g.56869815G>TCA395981219SLC12A3c.592G>T (p.Val198Phe)
c.589G>T (p.Val197Phe)
gnomAD v4
16g.56869816T>ACA395981220SLC12A3c.593T>A (p.Val198Asp)
c.590T>A (p.Val197Asp)
16g.56869816T>CCA395981221SLC12A3c.593T>C (p.Val198Ala)
c.590T>C (p.Val197Ala)
16g.56869816T>GCA395981223SLC12A3c.593T>G (p.Val198Gly)
c.590T>G (p.Val197Gly)
16g.56869817C>ACA495602950SLC12A3c.594C>A (p.Val198=)
c.591C>A (p.Val197=)
16g.56869817C>GCA495602949SLC12A3c.594C>G (p.Val198=)
c.591C>G (p.Val197=)
16g.56869817C>TCA495602948SLC12A3c.594C>T (p.Val198=)
c.591C>T (p.Val197=)
16g.56869817_56869819delinsCAACA2224349115SLC12A3c.594_596delinsCAA (p.Val198=)
c.591_593delinsCAA (p.Val197=)
16g.56869818A>CCA395981227SLC12A3c.595A>C (p.Lys199Gln)
c.592A>C (p.Lys198Gln)
gnomAD v4
16g.56869818A>GCA395981230SLC12A3c.595A>G (p.Lys199Glu)
c.592A>G (p.Lys198Glu)
16g.56869818A>TCA395981232SLC12A3c.595A>T (p.Lys199Ter)
c.592A>T (p.Lys198Ter)
16g.56869818_56869819delCA977637953SLC12A3c.595_596del (p.Lys199ValfsTer?)
c.592_593del (p.Lys198ValfsTer?)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.56869819delCA2633370362SLC12A3c.596del (p.Lys199SerfsTer?)
c.593del (p.Lys198SerfsTer?)
gnomAD v4
16g.56869819A=CA2224349116SLC12A3c.596A= (p.Lys199=)
c.593A= (p.Lys198=)
16g.56869819A>CCA395981234SLC12A3c.596A>C (p.Lys199Thr)
c.593A>C (p.Lys198Thr)
16g.56869819A>GCA8069105SLC12A3c.596A>G (p.Lys199Arg)
c.593A>G (p.Lys198Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56869819A>TCA395981235SLC12A3c.596A>T (p.Lys199Met)
c.593A>T (p.Lys198Met)
16g.56869820G>ACA495602951SLC12A3c.597G>A (p.Lys199=)
c.594G>A (p.Lys198=)
gnomAD v4
16g.56869820G>CCA395981238SLC12A3c.597G>C (p.Lys199Asn)
c.594G>C (p.Lys198Asn)
16g.56869820G>TCA395981243SLC12A3c.597G>T (p.Lys199Asn)
c.594G>T (p.Lys198Asn)
16g.56869821_56869829delCA645573538SLC12A3c.598_601+5del
c.595_598+5del
COSMIC
16g.56869821T>ACA395981247SLC12A3c.598T>A (p.Ser200Thr)
c.595T>A (p.Ser199Thr)
16g.56869821T>CCA395981250SLC12A3c.598T>C (p.Ser200Pro)
c.595T>C (p.Ser199Pro)
16g.56869821T>GCA395981253SLC12A3c.598T>G (p.Ser200Ala)
c.595T>G (p.Ser199Ala)
16g.56869822C>ACA395981256SLC12A3c.599C>A (p.Ser200Ter)
c.596C>A (p.Ser199Ter)
16g.56869822C>GCA395981268SLC12A3c.599C>G (p.Ser200Ter)
c.596C>G (p.Ser199Ter)
16g.56869822C>TCA395981270SLC12A3c.599C>T (p.Ser200Leu)
c.596C>T (p.Ser199Leu)
16g.56869823A=CA2224349117SLC12A3c.600A= (p.Ser200=)
c.597A= (p.Ser199=)
16g.56869823A>CCA495602952SLC12A3c.600A>C (p.Ser200=)
c.597A>C (p.Ser199=)
16g.56869823A>GCA8069106SLC12A3c.600A>G (p.Ser200=)
c.597A>G (p.Ser199=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56869823A>TCA495602953SLC12A3c.600A>T (p.Ser200=)
c.597A>T (p.Ser199=)
16g.56869824G>ACA395981282SLC12A3c.601G>A (p.Gly201Ser)
c.598G>A (p.Gly200Ser)
16g.56869824G>CCA395981284SLC12A3c.601G>C (p.Gly201Arg)
c.598G>C (p.Gly200Arg)
16g.56869824G>TCA395981289SLC12A3c.601G>T (p.Gly201Cys)
c.598G>T (p.Gly200Cys)
16g.56869825G>ACA395981294SLC12A3c.601+1G>A (n.601+1G>A)
c.598+1G>A (n.598+1G>A)
16g.56869825G>CCA395981298SLC12A3c.601+1G>C (n.601+1G>C)
c.598+1G>C (n.598+1G>C)
ClinVar
16g.56869825G>TCA395981299SLC12A3c.601+1G>T (n.601+1G>T)
c.598+1G>T (n.598+1G>T)
16g.56869826T>ACA395981310SLC12A3c.601+2T>A (n.601+2T>A)
c.598+2T>A (n.598+2T>A)
gnomAD v4
16g.56869826T>CCA395981307SLC12A3c.601+2T>C (n.601+2T>C)
c.598+2T>C (n.598+2T>C)
16g.56869826T>GCA395981303SLC12A3c.601+2T>G (n.601+2T>G)
c.598+2T>G (n.598+2T>G)
16g.56869827G=CA2224349118SLC12A3c.601+3G= (n.601+3G=)
c.598+3G= (n.598+3G=)
16g.56869827G>TCA8069107SLC12A3c.601+3G>T (n.601+3G>T)
c.598+3G>T (n.598+3G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched