Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.56863765_56872392delCA1139664706 ClinVar
16g.56865388_56865402delCA919713865SLC12A3c.153_167del (p.Cys52_Phe56del)
dbSNP
16g.56865401T>ACA395976965SLC12A3c.166T>A (p.Phe56Ile)
16g.56865401T>CCA395976968SLC12A3c.166T>C (p.Phe56Leu)
16g.56865401T>GCA395976972SLC12A3c.166T>G (p.Phe56Val)
16g.56865402T>ACA395976975SLC12A3c.167T>A (p.Phe56Tyr)
16g.56865402T>CCA395976976SLC12A3c.167T>C (p.Phe56Ser)
16g.56865402T>GCA395976979SLC12A3c.167T>G (p.Phe56Cys)
gnomAD v4
16g.56865403T>ACA395976982SLC12A3c.168T>A (p.Phe56Leu)
16g.56865403T>CCA495787781SLC12A3c.168T>C (p.Phe56=)
16g.56865403T>GCA395976981SLC12A3c.168T>G (p.Phe56Leu)
16g.56865404G>ACA395976984SLC12A3c.169G>A (p.Gly57Ser)
16g.56865404G>CCA395976991SLC12A3c.169G>C (p.Gly57Arg)
16g.56865404G>TCA395977003SLC12A3c.169G>T (p.Gly57Cys)
16g.56865405G>ACA395977016SLC12A3c.170G>A (p.Gly57Asp)
dbSNP
16g.56865405G>CCA395977017SLC12A3c.170G>C (p.Gly57Ala)
16g.56865405G=CA2224346968SLC12A3c.170G= (p.Gly57=)
16g.56865405G>TCA395977018SLC12A3c.170G>T (p.Gly57Val)
16g.56865406C>ACA495787784SLC12A3c.171C>A (p.Gly57=)
16g.56865406C>GCA495787785SLC12A3c.171C>G (p.Gly57=)
16g.56865406C>TCA495787786SLC12A3c.171C>T (p.Gly57=)
16g.56865407T>ACA395977027SLC12A3c.172T>A (p.Tyr58Asn)
16g.56865407T>CCA395977021SLC12A3c.172T>C (p.Tyr58His)
16g.56865407T>GCA395977024SLC12A3c.172T>G (p.Tyr58Asp)
16g.56865408A=CA2224346969SLC12A3c.173A= (p.Tyr58=)
16g.56865408A>CCA395977031SLC12A3c.173A>C (p.Tyr58Ser)
16g.56865408A>GCA395977041SLC12A3c.173A>G (p.Tyr58Cys)
16g.56865408A>TCA395977044SLC12A3c.173A>T (p.Tyr58Phe)
dbSNP gnomAD v4
16g.56865409C>ACA395977054SLC12A3c.174C>A (p.Tyr58Ter)
16g.56865409C>GCA395977065SLC12A3c.174C>G (p.Tyr58Ter)
16g.56865409C>TCA495787790SLC12A3c.174C>T (p.Tyr58=)
gnomAD v4
16g.56865410A>CCA395977069SLC12A3c.175A>C (p.Asn59His)
16g.56865410A>GCA395977071SLC12A3c.175A>G (p.Asn59Asp)
16g.56865410A>TCA395977074SLC12A3c.175A>T (p.Asn59Tyr)
16g.56865411A=CA2224346970SLC12A3c.176A= (p.Asn59=)
16g.56865411A>CCA395977078SLC12A3c.176A>C (p.Asn59Thr)
16g.56865411A>GCA395977084SLC12A3c.176A>G (p.Asn59Ser)
dbSNP gnomAD v2 gnomAD v4
16g.56865411A>TCA395977088SLC12A3c.176A>T (p.Asn59Ile)
dbSNP
16g.56865412C>ACA395977089SLC12A3c.177C>A (p.Asn59Lys)
16g.56865412C>GCA395977090SLC12A3c.177C>G (p.Asn59Lys)
gnomAD v4
16g.56865412C>TCA495787794SLC12A3c.177C>T (p.Asn59=)
16g.56865413A>CCA395977096SLC12A3c.178A>C (p.Thr60Pro)
16g.56865413A>GCA395977091SLC12A3c.178A>G (p.Thr60Ala)
16g.56865413A>TCA395977093SLC12A3c.178A>T (p.Thr60Ser)
16g.56865414C>ACA395977098SLC12A3c.179C>A (p.Thr60Lys)
16g.56865414C=CA2224346971SLC12A3c.179C= (p.Thr60=)
16g.56865414C>GCA395977101SLC12A3c.179C>G (p.Thr60Arg)
16g.56865414C>TCA150734SLC12A3c.179C>T (p.Thr60Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56865415G>ACA8068929SLC12A3c.180G>A (p.Thr60=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.56865415G>CCA8068930SLC12A3c.180G>C (p.Thr60=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56865415G=CA2224346972SLC12A3c.180G= (p.Thr60=)
16g.56865415G>TCA495787797SLC12A3c.180G>T (p.Thr60=)
16g.56865416_56865425delCA2580091660SLC12A3c.181_190del (p.Ile61CysfsTer?)
ClinVar
16g.56865416A=CA2224346973SLC12A3c.181A= (p.Ile61=)
16g.56865416A>CCA395977109SLC12A3c.181A>C (p.Ile61Leu)
16g.56865416A>GCA8068931SLC12A3c.181A>G (p.Ile61Val)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56865416A>TCA395977120SLC12A3c.181A>T (p.Ile61Phe)
16g.56865417T>ACA395977124SLC12A3c.182T>A (p.Ile61Asn)
16g.56865417T>CCA395977133SLC12A3c.182T>C (p.Ile61Thr)
16g.56865417T>GCA395977125SLC12A3c.182T>G (p.Ile61Ser)
16g.56865418C>ACA495787799SLC12A3c.183C>A (p.Ile61=)
gnomAD v4
16g.56865418C=CA2224346974SLC12A3c.183C= (p.Ile61=)
16g.56865418C>GCA281492355SLC12A3c.183C>G (p.Ile61Met)
dbSNP gnomAD v3 gnomAD v4
16g.56865418C>TCA495787800SLC12A3c.183C>T (p.Ile61=)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56865419G>ACA395977137SLC12A3c.184G>A (p.Asp62Asn)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.56865419G>CCA8068932SLC12A3c.184G>C (p.Asp62His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56865419G=CA2224346975SLC12A3c.184G= (p.Asp62=)
16g.56865419G>TCA395977142SLC12A3c.184G>T (p.Asp62Tyr)
gnomAD v4
16g.56865420A=CA2224346976SLC12A3c.185A= (p.Asp62=)
16g.56865420A>CCA395977144SLC12A3c.185A>C (p.Asp62Ala)
16g.56865420A>GCA395977146SLC12A3c.185A>G (p.Asp62Gly)
ClinVar dbSNP gnomAD v4
16g.56865420A>TCA395977145SLC12A3c.185A>T (p.Asp62Val)
ClinVar
16g.56865421T>ACA395977150SLC12A3c.186T>A (p.Asp62Glu)
16g.56865421T>CCA495787802SLC12A3c.186T>C (p.Asp62=)
16g.56865421T>GCA395977154SLC12A3c.186T>G (p.Asp62Glu)
16g.56865422G>ACA8068933SLC12A3c.187G>A (p.Val63Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56865422G>CCA395977165SLC12A3c.187G>C (p.Val63Leu)
16g.56865422G=CA2224346977SLC12A3c.187G= (p.Val63=)
16g.56865422G>TCA395977166SLC12A3c.187G>T (p.Val63Leu)
16g.56865425_56865427delCA2695223509SLC12A3c.190_192del (p.Val64del)
16g.56865423T>ACA395977168SLC12A3c.188T>A (p.Val63Glu)
16g.56865423T>CCA395977170SLC12A3c.188T>C (p.Val63Ala)
16g.56865423T>GCA395977175SLC12A3c.188T>G (p.Val63Gly)
16g.56865424G>ACA495787806SLC12A3c.189G>A (p.Val63=)
ClinVar dbSNP gnomAD v4
16g.56865424G>CCA495787805SLC12A3c.189G>C (p.Val63=)
16g.56865424G>TCA495787804SLC12A3c.189G>T (p.Val63=)
16g.56865425G>ACA395977178SLC12A3c.190G>A (p.Val64Met)
dbSNP
16g.56865425G>CCA395977180SLC12A3c.190G>C (p.Val64Leu)
16g.56865425G=CA2224346978SLC12A3c.190G= (p.Val64=)
16g.56865425G>TCA395977182SLC12A3c.190G>T (p.Val64Leu)
16g.56865425_56865426insAGACA2807159555SLC12A3c.190_191insAGA (p.Val64delinsGluMet)
16g.56865426T>ACA395977187SLC12A3c.191T>A (p.Val64Glu)
16g.56865426T>CCA395977191SLC12A3c.191T>C (p.Val64Ala)
gnomAD v4
16g.56865426T>GCA395977189SLC12A3c.191T>G (p.Val64Gly)
16g.56865426_56865427insAGGGGACCCGCCTTGGATCTGGAGGGCTGGGCTGCA2807159556SLC12A3c.191_192insAGGGGACCCGCCTTGGATCTGGAGGGCTGGGCTG (p.Pro65GlyfsTer15)
16g.56865427G>ACA495787808SLC12A3c.192G>A (p.Val64=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56865427G>CCA495787810SLC12A3c.192G>C (p.Val64=)
16g.56865427G=CA2224346979SLC12A3c.192G= (p.Val64=)
16g.56865427G>TCA495787809SLC12A3c.192G>T (p.Val64=)
16g.56865428C>ACA395977192SLC12A3c.193C>A (p.Pro65Thr)
16g.56865428C=CA2224346980SLC12A3c.193C= (p.Pro65=)
16g.56865428C>GCA395977198SLC12A3c.193C>G (p.Pro65Ala)
dbSNP gnomAD v3 gnomAD v4
16g.56865428C>TCA395977195SLC12A3c.193C>T (p.Pro65Ser)
gnomAD v4
16g.56865429C>ACA395977205SLC12A3c.194C>A (p.Pro65His)
16g.56865429C>GCA395977207SLC12A3c.194C>G (p.Pro65Arg)
16g.56865429C>TCA395977208SLC12A3c.194C>T (p.Pro65Leu)
16g.56865430C>ACA495787813SLC12A3c.195C>A (p.Pro65=)
16g.56865430C>GCA495787814SLC12A3c.195C>G (p.Pro65=)
16g.56865430C>TCA495787815SLC12A3c.195C>T (p.Pro65=)
16g.56865431A>CCA395977211SLC12A3c.196A>C (p.Thr66Pro)
16g.56865431A>GCA395977212SLC12A3c.196A>G (p.Thr66Ala)
dbSNP
16g.56865431A>TCA395977213SLC12A3c.196A>T (p.Thr66Ser)
gnomAD v4
16g.56865432C>ACA395977217SLC12A3c.197C>A (p.Thr66Lys)
gnomAD v4
16g.56865432C=CA2224346981SLC12A3c.197C= (p.Thr66=)
16g.56865432C>GCA395977219SLC12A3c.197C>G (p.Thr66Arg)
16g.56865432C>TCA395977230SLC12A3c.197C>T (p.Thr66Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56865433A=CA2224346982SLC12A3c.198A= (p.Thr66=)
16g.56865433A>CCA495787819SLC12A3c.198A>C (p.Thr66=)
16g.56865433A>GCA8068934SLC12A3c.198A>G (p.Thr66=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.56865433A>TCA495787820SLC12A3c.198A>T (p.Thr66=)
ClinVar
16g.56865435_56865436delCA2633368796SLC12A3c.200_201del (p.Tyr67Ter)
gnomAD v4
16g.56865434T>ACA395977235SLC12A3c.199T>A (p.Tyr67Asn)
16g.56865434T>CCA395977238SLC12A3c.199T>C (p.Tyr67His)
16g.56865434T>GCA395977242SLC12A3c.199T>G (p.Tyr67Asp)
16g.56865435A>CCA395977247SLC12A3c.200A>C (p.Tyr67Ser)
16g.56865435A>GCA395977252SLC12A3c.200A>G (p.Tyr67Cys)
gnomAD v4
16g.56865435A>TCA395977250SLC12A3c.200A>T (p.Tyr67Phe)
16g.56865436T>ACA395977255SLC12A3c.201T>A (p.Tyr67Ter)
ClinVar dbSNP
16g.56865436T>CCA495787822SLC12A3c.201T>C (p.Tyr67=)
16g.56865436T>GCA395977257SLC12A3c.201T>G (p.Tyr67Ter)
dbSNP gnomAD v2 gnomAD v4
16g.56865436T=CA2224346983SLC12A3c.201T= (p.Tyr67=)
16g.56865437G>ACA8068935SLC12A3c.202G>A (p.Glu68Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56865437G>CCA395977260SLC12A3c.202G>C (p.Glu68Gln)
16g.56865437G=CA2224346984SLC12A3c.202G= (p.Glu68=)
16g.56865437G>TCA395977262SLC12A3c.202G>T (p.Glu68Ter)
16g.56865438A>CCA395977264SLC12A3c.203A>C (p.Glu68Ala)
16g.56865438A>GCA395977267SLC12A3c.203A>G (p.Glu68Gly)
16g.56865438A>TCA395977270SLC12A3c.203A>T (p.Glu68Val)
16g.56865439G>ACA495787824SLC12A3c.204G>A (p.Glu68=)
ClinVar
16g.56865439G>CCA395977272SLC12A3c.204G>C (p.Glu68Asp)
16g.56865439G>TCA395977274SLC12A3c.204G>T (p.Glu68Asp)
16g.56865440C>ACA8068936SLC12A3c.205C>A (p.His69Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56865440C=CA2224346985SLC12A3c.205C= (p.His69=)
16g.56865440C>GCA395977276SLC12A3c.205C>G (p.His69Asp)
16g.56865440C>TCA395977275SLC12A3c.205C>T (p.His69Tyr)
ClinVar gnomAD v4
16g.56865441A=CA2224346986SLC12A3c.206A= (p.His69=)
16g.56865441A>CCA395977286SLC12A3c.206A>C (p.His69Pro)
16g.56865441A>GCA395977280SLC12A3c.206A>G (p.His69Arg)
gnomAD v4
16g.56865441A>TCA395977282SLC12A3c.206A>T (p.His69Leu)
dbSNP
16g.56865442C>ACA395977289SLC12A3c.207C>A (p.His69Gln)
16g.56865442C>GCA395977291SLC12A3c.207C>G (p.His69Gln)
16g.56865442C>TCA495787826SLC12A3c.207C>T (p.His69=)
ClinVar dbSNP
16g.56865443T>ACA395977294SLC12A3c.208T>A (p.Tyr70Asn)
16g.56865443T>CCA395977296SLC12A3c.208T>C (p.Tyr70His)
16g.56865443T>GCA395977298SLC12A3c.208T>G (p.Tyr70Asp)
16g.56865444A>CCA395977302SLC12A3c.209A>C (p.Tyr70Ser)
16g.56865444A>GCA395977304SLC12A3c.209A>G (p.Tyr70Cys)
16g.56865444A>TCA395977307SLC12A3c.209A>T (p.Tyr70Phe)
16g.56865445T>ACA395977309SLC12A3c.210T>A (p.Tyr70Ter)
16g.56865445T>CCA495787830SLC12A3c.210T>C (p.Tyr70=)
gnomAD v4
16g.56865445T>GCA395977311SLC12A3c.210T>G (p.Tyr70Ter)
16g.56865446G>ACA395977320SLC12A3c.211G>A (p.Ala71Thr)
16g.56865446G>CCA395977322SLC12A3c.211G>C (p.Ala71Pro)
16g.56865446G>TCA395977312SLC12A3c.211G>T (p.Ala71Ser)
16g.56865447C>ACA395977326SLC12A3c.212C>A (p.Ala71Asp)
16g.56865447C>GCA395977330SLC12A3c.212C>G (p.Ala71Gly)
16g.56865447C>TCA395977335SLC12A3c.212C>T (p.Ala71Val)
16g.56865448C>ACA495787836SLC12A3c.213C>A (p.Ala71=)
16g.56865448C>GCA495787835SLC12A3c.213C>G (p.Ala71=)
16g.56865448C>TCA495787834SLC12A3c.213C>T (p.Ala71=)
COSMIC
16g.56865449A>CCA395977340SLC12A3c.214A>C (p.Asn72His)
16g.56865449A>GCA395977342SLC12A3c.214A>G (p.Asn72Asp)
16g.56865449A>TCA395977347SLC12A3c.214A>T (p.Asn72Tyr)
16g.56865450A=CA2224346987SLC12A3c.215A= (p.Asn72=)
16g.56865450A>CCA395977352SLC12A3c.215A>C (p.Asn72Thr)
16g.56865450A>GCA395977361SLC12A3c.215A>G (p.Asn72Ser)
dbSNP gnomAD v2 gnomAD v4
16g.56865450A>TCA395977358SLC12A3c.215A>T (p.Asn72Ile)
16g.56865451C>ACA395977365SLC12A3c.216C>A (p.Asn72Lys)
16g.56865451C>GCA395977371SLC12A3c.216C>G (p.Asn72Lys)
gnomAD v4
16g.56865451C>TCA495787838SLC12A3c.216C>T (p.Asn72=)
ClinVar dbSNP
16g.56865452A=CA2224346988SLC12A3c.217A= (p.Ser73=)
16g.56865452A>CCA395977384SLC12A3c.217A>C (p.Ser73Arg)
gnomAD v4
16g.56865452A>GCA395977391SLC12A3c.217A>G (p.Ser73Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56865452A>TCA395977394SLC12A3c.217A>T (p.Ser73Cys)
16g.56865453G>ACA395977396SLC12A3c.218G>A (p.Ser73Asn)
16g.56865453G>CCA395977397SLC12A3c.218G>C (p.Ser73Thr)
16g.56865453G>TCA395977395SLC12A3c.218G>T (p.Ser73Ile)
16g.56865454C>ACA395977400SLC12A3c.219C>A (p.Ser73Arg)
16g.56865454C>GCA395977404SLC12A3c.219C>G (p.Ser73Arg)
16g.56865454C>TCA495787840SLC12A3c.219C>T (p.Ser73=)
16g.56865455A=CA2224346989SLC12A3c.220A= (p.Thr74=)
16g.56865455A>CCA395977409SLC12A3c.220A>C (p.Thr74Pro)
16g.56865455A>GCA395977411SLC12A3c.220A>G (p.Thr74Ala)
dbSNP gnomAD v2 gnomAD v4
16g.56865455A>TCA395977414SLC12A3c.220A>T (p.Thr74Ser)
16g.56865456C>ACA395977418SLC12A3c.221C>A (p.Thr74Asn)
16g.56865456C=CA2224346990SLC12A3c.221C= (p.Thr74=)
16g.56865456C>GCA395977421SLC12A3c.221C>G (p.Thr74Ser)
16g.56865456C>TCA395977424SLC12A3c.221C>T (p.Thr74Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56865459_56865473delCA2633368872SLC12A3c.224_238del (p.Gln75_Pro79del)
gnomAD v4
16g.56865457C>ACA495787842SLC12A3c.222C>A (p.Thr74=)
gnomAD v4
16g.56865457C>GCA495787843SLC12A3c.222C>G (p.Thr74=)
16g.56865457C>TCA495787844SLC12A3c.222C>T (p.Thr74=)
16g.56865458C>ACA395977429SLC12A3c.223C>A (p.Gln75Lys)
16g.56865458C>GCA395977431SLC12A3c.223C>G (p.Gln75Glu)
16g.56865458C>TCA395977433SLC12A3c.223C>T (p.Gln75Ter)
16g.56865459A=CA2224346991SLC12A3c.224A= (p.Gln75=)
16g.56865459A>CCA395977437SLC12A3c.224A>C (p.Gln75Pro)
16g.56865459A>GCA395977439SLC12A3c.224A>G (p.Gln75Arg)
dbSNP gnomAD v2 gnomAD v4
16g.56865459A>TCA395977443SLC12A3c.224A>T (p.Gln75Leu)
16g.56865460G>ACA495787845SLC12A3c.225G>A (p.Gln75=)
16g.56865460G>CCA395977448SLC12A3c.225G>C (p.Gln75His)
16g.56865460G>TCA395977447SLC12A3c.225G>T (p.Gln75His)
16g.56865461C>ACA395977449SLC12A3c.226C>A (p.Pro76Thr)
dbSNP
16g.56865461C=CA2224346992SLC12A3c.226C= (p.Pro76=)
16g.56865461C>GCA395977452SLC12A3c.226C>G (p.Pro76Ala)
16g.56865461C>TCA395977455SLC12A3c.226C>T (p.Pro76Ser)
16g.56865462C>ACA395977459SLC12A3c.227C>A (p.Pro76His)
16g.56865462C=CA2224346993SLC12A3c.227C= (p.Pro76=)
16g.56865462C>GCA395977462SLC12A3c.227C>G (p.Pro76Arg)
16g.56865462C>TCA395977465SLC12A3c.227C>T (p.Pro76Leu)
dbSNP gnomAD v4
16g.56865463T>ACA495787846SLC12A3c.228T>A (p.Pro76=)
16g.56865463T>CCA495787847SLC12A3c.228T>C (p.Pro76=)
16g.56865463T>GCA495787848SLC12A3c.228T>G (p.Pro76=)
16g.56865464G>ACA395977469SLC12A3c.229G>A (p.Gly77Ser)
dbSNP gnomAD v2
16g.56865464G>CCA395977472SLC12A3c.229G>C (p.Gly77Arg)
16g.56865464G=CA2224346994SLC12A3c.229G= (p.Gly77=)
16g.56865464G>TCA395977476SLC12A3c.229G>T (p.Gly77Cys)
16g.56865465G>ACA395977481SLC12A3c.230G>A (p.Gly77Asp)
gnomAD v4
16g.56865465G>CCA8068937SLC12A3c.230G>C (p.Gly77Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56865465G=CA2224346995SLC12A3c.230G= (p.Gly77=)
16g.56865465G>TCA395977490SLC12A3c.230G>T (p.Gly77Val)
16g.56865466T>ACA495787849SLC12A3c.231T>A (p.Gly77=)
16g.56865466T>CCA495787850SLC12A3c.231T>C (p.Gly77=)
16g.56865466T>GCA495787851SLC12A3c.231T>G (p.Gly77=)
16g.56865467G>ACA395977499SLC12A3c.232G>A (p.Glu78Lys)
16g.56865467G>CCA395977502SLC12A3c.232G>C (p.Glu78Gln)
16g.56865467G>TCA395977494SLC12A3c.232G>T (p.Glu78Ter)
16g.56865468A>CCA395977517SLC12A3c.233A>C (p.Glu78Ala)
16g.56865468A>GCA395977520SLC12A3c.233A>G (p.Glu78Gly)
16g.56865468A>TCA395977524SLC12A3c.233A>T (p.Glu78Val)
16g.56865469delCA2695223510SLC12A3c.234del (p.Glu78AspfsTer?)
16g.56865469G>ACA495787852SLC12A3c.234G>A (p.Glu78=)
ClinVar dbSNP
16g.56865469G>CCA395977528SLC12A3c.234G>C (p.Glu78Asp)
16g.56865469G=CA2224346996SLC12A3c.234G= (p.Glu78=)
16g.56865469G>TCA395977534SLC12A3c.234G>T (p.Glu78Asp)
16g.56865470C>ACA395977546SLC12A3c.235C>A (p.Pro79Thr)
gnomAD v4
16g.56865470C>GCA395977539SLC12A3c.235C>G (p.Pro79Ala)
16g.56865470C>TCA395977542SLC12A3c.235C>T (p.Pro79Ser)
gnomAD v4
16g.56865472_56865473dupCA8068938SLC12A3c.237_238dup (p.Arg80ProfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56865473delCA2695223511SLC12A3c.238del (p.Arg80GlyfsTer?)
16g.56865471C>ACA395977555SLC12A3c.236C>A (p.Pro79His)
16g.56865471C=CA2224346997SLC12A3c.236C= (p.Pro79=)
16g.56865471C>GCA395977558SLC12A3c.236C>G (p.Pro79Arg)
16g.56865471C>TCA8068939SLC12A3c.236C>T (p.Pro79Leu)
dbSNP ExAC gnomAD v2
16g.56865472C>ACA495787853SLC12A3c.237C>A (p.Pro79=)
16g.56865472C>GCA495787854SLC12A3c.237C>G (p.Pro79=)
16g.56865472C>TCA495787855SLC12A3c.237C>T (p.Pro79=)
ClinVar gnomAD v4
16g.56865473C>ACA495787856SLC12A3c.238C>A (p.Arg80=)
16g.56865473C=CA2224346998SLC12A3c.238C= (p.Arg80=)
16g.56865473C>GCA395977574SLC12A3c.238C>G (p.Arg80Gly)
16g.56865473C>TCA8068940SLC12A3c.238C>T (p.Arg80Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56865474G>ACA395977582SLC12A3c.239G>A (p.Arg80Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56865474G>CCA395977586SLC12A3c.239G>C (p.Arg80Pro)
16g.56865474G=CA2224346999SLC12A3c.239G= (p.Arg80=)
16g.56865474G>TCA395977584SLC12A3c.239G>T (p.Arg80Leu)
16g.56865475G>ACA495787857SLC12A3c.240G>A (p.Arg80=)
16g.56865475G>CCA495787858SLC12A3c.240G>C (p.Arg80=)
ClinVar dbSNP gnomAD v4
16g.56865475G>TCA495787859SLC12A3c.240G>T (p.Arg80=)
16g.56865476A>CCA395977589SLC12A3c.241A>C (p.Lys81Gln)
16g.56865476A>GCA395977593SLC12A3c.241A>G (p.Lys81Glu)
16g.56865476A>TCA395977597SLC12A3c.241A>T (p.Lys81Ter)
16g.56865477A>CCA395977602SLC12A3c.242A>C (p.Lys81Thr)
16g.56865477A>GCA395977604SLC12A3c.242A>G (p.Lys81Arg)
COSMIC
16g.56865477A>TCA395977608SLC12A3c.242A>T (p.Lys81Met)
16g.56865478G>ACA495787860SLC12A3c.243G>A (p.Lys81=)
COSMIC
16g.56865478G>CCA395977614SLC12A3c.243G>C (p.Lys81Asn)
16g.56865478G>TCA395977616SLC12A3c.243G>T (p.Lys81Asn)
16g.56865479G>ACA395977620SLC12A3c.244G>A (p.Val82Ile)
COSMIC
16g.56865479G>CCA395977621SLC12A3c.244G>C (p.Val82Leu)
16g.56865479G=CA2224347000SLC12A3c.244G= (p.Val82=)
16g.56865479G>TCA395977622SLC12A3c.244G>T (p.Val82Phe)
dbSNP gnomAD v3 gnomAD v4
16g.56865480T>ACA395977626SLC12A3c.245T>A (p.Val82Asp)
16g.56865480T>CCA395977634SLC12A3c.245T>C (p.Val82Ala)
dbSNP gnomAD v2 gnomAD v4
16g.56865480T>GCA395977629SLC12A3c.245T>G (p.Val82Gly)
16g.56865480T=CA2224347001SLC12A3c.245T= (p.Val82=)
16g.56865481C>ACA281492381SLC12A3c.246C>A (p.Val82=)
dbSNP gnomAD v4
16g.56865481C=CA2224347002SLC12A3c.246C= (p.Val82=)
16g.56865481C>GCA495787861SLC12A3c.246C>G (p.Val82=)
16g.56865481C>TCA495787862SLC12A3c.246C>T (p.Val82=)
dbSNP gnomAD v4
16g.56865482C>ACA495787863SLC12A3c.247C>A (p.Arg83=)
gnomAD v4
16g.56865482C=CA2224347003SLC12A3c.247C= (p.Arg83=)
16g.56865482C>GCA395977639SLC12A3c.247C>G (p.Arg83Gly)
16g.56865482C>TCA8068941SLC12A3c.247C>T (p.Arg83Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56865483G>ACA8068942SLC12A3c.248G>A (p.Arg83Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56865483G>CCA395977658SLC12A3c.248G>C (p.Arg83Pro)
16g.56865483G=CA2224347004SLC12A3c.248G= (p.Arg83=)
16g.56865483G>TCA395977653SLC12A3c.248G>T (p.Arg83Leu)
16g.56865484G>ACA495787864SLC12A3c.249G>A (p.Arg83=)
dbSNP
16g.56865484G>CCA495787865SLC12A3c.249G>C (p.Arg83=)
16g.56865484G=CA2224347005SLC12A3c.249G= (p.Arg83=)
16g.56865484G>TCA8068943SLC12A3c.249G>T (p.Arg83=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56865485C>ACA395977670SLC12A3c.250C>A (p.Pro84Thr)
16g.56865485C=CA2224347006SLC12A3c.250C= (p.Pro84=)
16g.56865485C>GCA395977673SLC12A3c.250C>G (p.Pro84Ala)
dbSNP gnomAD v2 gnomAD v4
16g.56865485C>TCA395977674SLC12A3c.250C>T (p.Pro84Ser)
16g.56865486C>ACA395977675SLC12A3c.251C>A (p.Pro84His)
16g.56865486C=CA2224347007SLC12A3c.251C= (p.Pro84=)
16g.56865486C>GCA395977676SLC12A3c.251C>G (p.Pro84Arg)
16g.56865486C>TCA395977679SLC12A3c.251C>T (p.Pro84Leu)
dbSNP gnomAD v2
16g.56865487C>ACA495787866SLC12A3c.252C>A (p.Pro84=)
dbSNP gnomAD v2
16g.56865487C=CA2224347008SLC12A3c.252C= (p.Pro84=)
16g.56865487C>GCA495787867SLC12A3c.252C>G (p.Pro84=)
16g.56865487C>TCA8068944SLC12A3c.252C>T (p.Pro84=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56865488A>CCA395977702SLC12A3c.253A>C (p.Thr85Pro)
16g.56865488A>GCA395977705SLC12A3c.253A>G (p.Thr85Ala)
16g.56865488A>TCA395977707SLC12A3c.253A>T (p.Thr85Ser)
16g.56865489C>ACA395977721SLC12A3c.254C>A (p.Thr85Lys)
16g.56865489C>GCA395977717SLC12A3c.254C>G (p.Thr85Arg)
16g.56865489C>TCA395977712SLC12A3c.254C>T (p.Thr85Ile)
gnomAD v4
16g.56865490A=CA2224347009SLC12A3c.255A= (p.Thr85=)
16g.56865490A>CCA8068945SLC12A3c.255A>C (p.Thr85=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56865490A>GCA495787869SLC12A3c.255A>G (p.Thr85=)
ClinVar dbSNP gnomAD v4
16g.56865490A>TCA495787868SLC12A3c.255A>T (p.Thr85=)
ClinVar
16g.56865491C>ACA395977730SLC12A3c.256C>A (p.Leu86Met)
dbSNP
16g.56865491C=CA2224347010SLC12A3c.256C= (p.Leu86=)
16g.56865491C>GCA8068946SLC12A3c.256C>G (p.Leu86Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56865491C>TCA495787870SLC12A3c.256C>T (p.Leu86=)
gnomAD v4
16g.56865492T>ACA395977734SLC12A3c.257T>A (p.Leu86Gln)
16g.56865492T>CCA395977737SLC12A3c.257T>C (p.Leu86Pro)
16g.56865492T>GCA395977740SLC12A3c.257T>G (p.Leu86Arg)
16g.56865493G>ACA495787871SLC12A3c.258G>A (p.Leu86=)
16g.56865493G>CCA495787872SLC12A3c.258G>C (p.Leu86=)
16g.56865493G=CA2224347011SLC12A3c.258G= (p.Leu86=)
16g.56865493G>TCA495787873SLC12A3c.258G>T (p.Leu86=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.56865494G>ACA395977743SLC12A3c.259G>A (p.Ala87Thr)
dbSNP gnomAD v2 gnomAD v4
16g.56865494G>CCA395977746SLC12A3c.259G>C (p.Ala87Pro)
16g.56865494G=CA2224347012SLC12A3c.259G= (p.Ala87=)
16g.56865494G>TCA395977749SLC12A3c.259G>T (p.Ala87Ser)
gnomAD v4
16g.56865495C>ACA395977752SLC12A3c.260C>A (p.Ala87Asp)
16g.56865495C>GCA395977755SLC12A3c.260C>G (p.Ala87Gly)
16g.56865495C>TCA395977756SLC12A3c.260C>T (p.Ala87Val)
16g.56865496T>ACA495787874SLC12A3c.261T>A (p.Ala87=)
16g.56865496T>CCA495787876SLC12A3c.261T>C (p.Ala87=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.56865496T>GCA495787875SLC12A3c.261T>G (p.Ala87=)
16g.56865496T=CA2224347013SLC12A3c.261T= (p.Ala87=)
16g.56865497G>ACA395977763SLC12A3c.262G>A (p.Asp88Asn)
16g.56865497G>CCA395977760SLC12A3c.262G>C (p.Asp88His)
16g.56865497G>TCA395977757SLC12A3c.262G>T (p.Asp88Tyr)
16g.56865498A=CA2224347014SLC12A3c.263A= (p.Asp88=)
16g.56865498A>CCA395977772SLC12A3c.263A>C (p.Asp88Ala)
16g.56865498A>GCA395977767SLC12A3c.263A>G (p.Asp88Gly)
dbSNP gnomAD v3 gnomAD v4
16g.56865498A>TCA395977770SLC12A3c.263A>T (p.Asp88Val)
16g.56865499C>ACA395977775SLC12A3c.264C>A (p.Asp88Glu)
dbSNP gnomAD v3 gnomAD v4
16g.56865499C=CA2224347015SLC12A3c.264C= (p.Asp88=)
16g.56865499C>GCA395977777SLC12A3c.264C>G (p.Asp88Glu)
16g.56865499C>TCA495787877SLC12A3c.264C>T (p.Asp88=)
16g.56865500C>ACA395977781SLC12A3c.265C>A (p.Leu89Met)
16g.56865500C>GCA395977784SLC12A3c.265C>G (p.Leu89Val)
16g.56865500C>TCA495787878SLC12A3c.265C>T (p.Leu89=)
gnomAD v4
16g.56865501T>ACA395977787SLC12A3c.266T>A (p.Leu89Gln)
16g.56865501T>CCA395977788SLC12A3c.266T>C (p.Leu89Pro)
16g.56865501T>GCA395977790SLC12A3c.266T>G (p.Leu89Arg)
dbSNP gnomAD v2 gnomAD v4
16g.56865501T=CA2224347016SLC12A3c.266T= (p.Leu89=)

Number of alleles fetched