Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.56863765_56872392delCA1139664706 ClinVar
16g.56870077C=CA2224349251SLC12A3c.602-19C= (n.602-19C=)
c.599-19C= (n.599-19C=)
16g.56870077C>GCA8069124SLC12A3c.602-19C>G (n.602-19C>G)
c.599-19C>G (n.599-19C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870077C>TCA622333616SLC12A3c.602-19C>T (n.602-19C>T)
c.599-19C>T (n.599-19C>T)
dbSNP gnomAD v2 gnomAD v4
16g.56870079dupCA2633370824SLC12A3c.602-17dup (n.602-17dup)
c.599-17dup (n.599-17dup)
gnomAD v4
16g.56870078C=CA2224349252SLC12A3c.602-18C= (n.602-18C=)
c.599-18C= (n.599-18C=)
16g.56870078C>GCA8069125SLC12A3c.602-18C>G (n.602-18C>G)
c.599-18C>G (n.599-18C>G)
dbSNP ExAC gnomAD v2
16g.56870079C>ACA2633370834SLC12A3c.602-17C>A (n.602-17C>A)
c.599-17C>A (n.599-17C>A)
gnomAD v4
16g.56870079C=CA2224349253SLC12A3c.602-17C= (n.602-17C=)
c.599-17C= (n.599-17C=)
16g.56870079C>TCA8069126SLC12A3c.602-17C>T (n.602-17C>T)
c.599-17C>T (n.599-17C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870080G>ACA8069127SLC12A3c.602-16G>A (n.602-16G>A)
c.599-16G>A (n.599-16G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870080G=CA2224349254SLC12A3c.602-16G= (n.602-16G=)
c.599-16G= (n.599-16G=)
16g.56870080G>TCA2633370849SLC12A3c.602-16G>T (n.602-16G>T)
c.599-16G>T (n.599-16G>T)
gnomAD v4
16g.56870081G>ACA622333621SLC12A3c.602-15G>A (n.602-15G>A)
c.599-15G>A (n.599-15G>A)
dbSNP gnomAD v2 gnomAD v4
16g.56870081G=CA2224349255SLC12A3c.602-15G= (n.602-15G=)
c.599-15G= (n.599-15G=)
16g.56870083T>ACA2576001910SLC12A3c.602-13T>A (n.602-13T>A)
c.599-13T>A (n.599-13T>A)
16g.56870083T>CCA2633370857SLC12A3c.602-13T>C (n.602-13T>C)
c.599-13T>C (n.599-13T>C)
gnomAD v4
16g.56870085T>ACA2224349257SLC12A3c.602-11T>A (n.602-11T>A)
c.599-11T>A (n.599-11T>A)
ClinVar dbSNP gnomAD v4
16g.56870085T=CA2224349256SLC12A3c.602-11T= (n.602-11T=)
c.599-11T= (n.599-11T=)
16g.56870086G=CA2224349258SLC12A3c.602-10G= (n.602-10G=)
c.599-10G= (n.599-10G=)
16g.56870086G>TCA2633370865SLC12A3c.602-10G>T (n.602-10G>T)
c.599-10G>T (n.599-10G>T)
gnomAD v4
16g.56870086_56870087insTCA2224349259SLC12A3c.602-10_602-9insT (n.602-10_602-9insT)
c.599-10_599-9insT (n.599-10_599-9insT)
dbSNP
16g.56870087C=CA2224349260SLC12A3c.602-9C= (n.602-9C=)
c.599-9C= (n.599-9C=)
16g.56870087C>TCA622333623SLC12A3c.602-9C>T (n.602-9C>T)
c.599-9C>T (n.599-9C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56870089delCA2633370869SLC12A3c.602-7del (n.602-7del)
c.599-7del (n.599-7del)
gnomAD v4
16g.56870088C=CA2224349261SLC12A3c.602-8C= (n.602-8C=)
c.599-8C= (n.599-8C=)
16g.56870088C>TCA622333625SLC12A3c.602-8C>T (n.602-8C>T)
c.599-8C>T (n.599-8C>T)
dbSNP gnomAD v2
16g.56870090T>CCA2580091683SLC12A3c.602-6T>C (n.602-6T>C)
c.599-6T>C (n.599-6T>C)
ClinVar gnomAD v4
16g.56870091G>ACA2739266788SLC12A3c.602-5G>A (n.602-5G>A)
c.599-5G>A (n.599-5G>A)
ClinVar
16g.56870091G>TCA2576001912SLC12A3c.602-5G>T (n.602-5G>T)
c.599-5G>T (n.599-5G>T)
gnomAD v4
16g.56870092A=CA2224349262SLC12A3c.602-4A= (n.602-4A=)
c.599-4A= (n.599-4A=)
16g.56870092A>GCA2633370883SLC12A3c.602-4A>G (n.602-4A>G)
c.599-4A>G (n.599-4A>G)
gnomAD v4
16g.56870092A>TCA8069128SLC12A3c.602-4A>T (n.602-4A>T)
c.599-4A>T (n.599-4A>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870094A=CA2224349263SLC12A3c.602-2A= (n.602-2A=)
c.599-2A= (n.599-2A=)
16g.56870094A>CCA395981390SLC12A3c.602-2A>C (n.602-2A>C)
c.599-2A>C (n.599-2A>C)
16g.56870094A>GCA8069129SLC12A3c.602-2A>G (n.602-2A>G)
c.599-2A>G (n.599-2A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870094A>TCA395981388SLC12A3c.602-2A>T (n.602-2A>T)
c.599-2A>T (n.599-2A>T)
16g.56870095G>ACA395981394SLC12A3c.602-1G>A (n.602-1G>A)
c.599-1G>A (n.599-1G>A)
ClinVar dbSNP gnomAD v4
16g.56870095G>CCA395981398SLC12A3c.602-1G>C (n.602-1G>C)
c.599-1G>C (n.599-1G>C)
16g.56870095G=CA2224349264SLC12A3c.602-1G= (n.602-1G=)
c.599-1G= (n.599-1G=)
16g.56870095G>TCA395981403SLC12A3c.602-1G>T (n.602-1G>T)
c.599-1G>T (n.599-1G>T)
gnomAD v4
16g.56870096G>ACA395981409SLC12A3c.602G>A (p.Gly201Asp)
c.599G>A (p.Gly200Asp)
16g.56870096G>CCA395981413SLC12A3c.602G>C (p.Gly201Ala)
c.599G>C (p.Gly200Ala)
16g.56870096G>TCA395981416SLC12A3c.602G>T (p.Gly201Val)
c.599G>T (p.Gly200Val)
ClinVar dbSNP
16g.56870097T>ACA495602954SLC12A3c.603T>A (p.Gly201=)
c.600T>A (p.Gly200=)
16g.56870097T>CCA495602955SLC12A3c.603T>C (p.Gly201=)
c.600T>C (p.Gly200=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56870097T>GCA495602956SLC12A3c.603T>G (p.Gly201=)
c.600T>G (p.Gly200=)
16g.56870097T=CA2224349265SLC12A3c.603T= (p.Gly201=)
c.600T= (p.Gly200=)
16g.56870098G>ACA395981429SLC12A3c.604G>A (p.Gly202Ser)
c.601G>A (p.Gly201Ser)
16g.56870098G>CCA395981425SLC12A3c.604G>C (p.Gly202Arg)
c.601G>C (p.Gly201Arg)
16g.56870098G>TCA395981420SLC12A3c.604G>T (p.Gly202Cys)
c.601G>T (p.Gly201Cys)
16g.56870099G>ACA8069130SLC12A3c.605G>A (p.Gly202Asp)
c.602G>A (p.Gly201Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56870099G>CCA395981431SLC12A3c.605G>C (p.Gly202Ala)
c.602G>C (p.Gly201Ala)
16g.56870099G=CA2224349266SLC12A3c.605G= (p.Gly202=)
c.602G= (p.Gly201=)
16g.56870099G>TCA395981432SLC12A3c.605G>T (p.Gly202Val)
c.602G>T (p.Gly201Val)
gnomAD v4 COSMIC
16g.56870100C>ACA495602957SLC12A3c.606C>A (p.Gly202=)
c.603C>A (p.Gly201=)
16g.56870100C>GCA495602958SLC12A3c.606C>G (p.Gly202=)
c.603C>G (p.Gly201=)
16g.56870100C>TCA495602959SLC12A3c.606C>T (p.Gly202=)
c.603C>T (p.Gly201=)
16g.56870101A>CCA395981433SLC12A3c.607A>C (p.Thr203Pro)
c.604A>C (p.Thr202Pro)
16g.56870101A>GCA395981436SLC12A3c.607A>G (p.Thr203Ala)
c.604A>G (p.Thr202Ala)
gnomAD v4
16g.56870101A>TCA395981437SLC12A3c.607A>T (p.Thr203Ser)
c.604A>T (p.Thr202Ser)
16g.56870102C>ACA395981439SLC12A3c.608C>A (p.Thr203Asn)
c.605C>A (p.Thr202Asn)
16g.56870102C>GCA395981448SLC12A3c.608C>G (p.Thr203Ser)
c.605C>G (p.Thr202Ser)
16g.56870102C>TCA395981442SLC12A3c.608C>T (p.Thr203Ile)
c.605C>T (p.Thr202Ile)
gnomAD v4
16g.56870103C>ACA495602960SLC12A3c.609C>A (p.Thr203=)
c.606C>A (p.Thr202=)
dbSNP
16g.56870103C=CA2224349267SLC12A3c.609C= (p.Thr203=)
c.606C= (p.Thr202=)
16g.56870103C>GCA495602962SLC12A3c.609C>G (p.Thr203=)
c.606C>G (p.Thr202=)
dbSNP
16g.56870103C>TCA495602961SLC12A3c.609C>T (p.Thr203=)
c.606C>T (p.Thr202=)
16g.56870104T>ACA395981452SLC12A3c.610T>A (p.Tyr204Asn)
c.607T>A (p.Tyr203Asn)
16g.56870104T>CCA395981456SLC12A3c.610T>C (p.Tyr204His)
c.607T>C (p.Tyr203His)
16g.56870104T>GCA395981462SLC12A3c.610T>G (p.Tyr204Asp)
c.607T>G (p.Tyr203Asp)
16g.56870105A>CCA395981466SLC12A3c.611A>C (p.Tyr204Ser)
c.608A>C (p.Tyr203Ser)
16g.56870105A>GCA395981471SLC12A3c.611A>G (p.Tyr204Cys)
c.608A>G (p.Tyr203Cys)
16g.56870105A>TCA395981478SLC12A3c.611A>T (p.Tyr204Phe)
c.608A>T (p.Tyr203Phe)
16g.56870106C>ACA395981482SLC12A3c.612C>A (p.Tyr204Ter)
c.609C>A (p.Tyr203Ter)
gnomAD v4
16g.56870106C=CA2224349268SLC12A3c.612C= (p.Tyr204=)
c.609C= (p.Tyr203=)
16g.56870106C>GCA395981484SLC12A3c.612C>G (p.Tyr204Ter)
c.609C>G (p.Tyr203Ter)
ClinVar dbSNP gnomAD v4
16g.56870106C>TCA495602963SLC12A3c.612C>T (p.Tyr204=)
c.609C>T (p.Tyr203=)
ClinVar dbSNP gnomAD v2
16g.56870106_56870107delinsCTCA2224349269SLC12A3c.612_613delinsCT (p.Tyr204=)
c.609_610delinsCT (p.Tyr203=)
16g.56870107T>ACA395981490SLC12A3c.613T>A (p.Phe205Ile)
c.610T>A (p.Phe204Ile)
16g.56870107T>CCA395981493SLC12A3c.613T>C (p.Phe205Leu)
c.610T>C (p.Phe204Leu)
gnomAD v4
16g.56870107T>GCA395981497SLC12A3c.613T>G (p.Phe205Val)
c.610T>G (p.Phe204Val)
16g.56870108delCA2224349270SLC12A3c.614del (p.Phe205SerfsTer?)
c.611del (p.Phe204SerfsTer?)
gnomAD v4
16g.56870108T>ACA395981500SLC12A3c.614T>A (p.Phe205Tyr)
c.611T>A (p.Phe204Tyr)
16g.56870108T>CCA395981503SLC12A3c.614T>C (p.Phe205Ser)
c.611T>C (p.Phe204Ser)
16g.56870108T>GCA395981501SLC12A3c.614T>G (p.Phe205Cys)
c.611T>G (p.Phe204Cys)
16g.56870109C>ACA395981509SLC12A3c.615C>A (p.Phe205Leu)
c.612C>A (p.Phe204Leu)
16g.56870109C>GCA395981510SLC12A3c.615C>G (p.Phe205Leu)
c.612C>G (p.Phe204Leu)
16g.56870109C>TCA495602964SLC12A3c.615C>T (p.Phe205=)
c.612C>T (p.Phe204=)
ClinVar COSMIC
16g.56870110C>ACA395981511SLC12A3c.616C>A (p.Leu206Ile)
c.613C>A (p.Leu205Ile)
16g.56870110C>GCA395981512SLC12A3c.616C>G (p.Leu206Val)
c.613C>G (p.Leu205Val)
16g.56870110C>TCA395981513SLC12A3c.616C>T (p.Leu206Phe)
c.613C>T (p.Leu205Phe)
gnomAD v4
16g.56870111T>ACA395981515SLC12A3c.617T>A (p.Leu206His)
c.614T>A (p.Leu205His)
16g.56870111T>CCA395981519SLC12A3c.617T>C (p.Leu206Pro)
c.614T>C (p.Leu205Pro)
16g.56870111T>GCA395981521SLC12A3c.617T>G (p.Leu206Arg)
c.614T>G (p.Leu205Arg)
16g.56870112C>ACA495602965SLC12A3c.618C>A (p.Leu206=)
c.615C>A (p.Leu205=)
16g.56870112C=CA2224349271SLC12A3c.618C= (p.Leu206=)
c.615C= (p.Leu205=)
16g.56870112C>GCA495602966SLC12A3c.618C>G (p.Leu206=)
c.615C>G (p.Leu205=)
16g.56870112C>TCA495602967SLC12A3c.618C>T (p.Leu206=)
c.615C>T (p.Leu205=)
dbSNP gnomAD v4
16g.56870113A=CA2224349272SLC12A3c.619A= (p.Ile207=)
c.616A= (p.Ile206=)
16g.56870113A>CCA395981525SLC12A3c.619A>C (p.Ile207Leu)
c.616A>C (p.Ile206Leu)
16g.56870113A>GCA395981527SLC12A3c.619A>G (p.Ile207Val)
c.616A>G (p.Ile206Val)
dbSNP gnomAD v2 gnomAD v4
16g.56870113A>TCA395981530SLC12A3c.619A>T (p.Ile207Phe)
c.616A>T (p.Ile206Phe)
16g.56870114T>ACA395981534SLC12A3c.620T>A (p.Ile207Asn)
c.617T>A (p.Ile206Asn)
16g.56870114T>CCA395981538SLC12A3c.620T>C (p.Ile207Thr)
c.617T>C (p.Ile206Thr)
16g.56870114T>GCA395981542SLC12A3c.620T>G (p.Ile207Ser)
c.617T>G (p.Ile206Ser)
16g.56870115C>ACA495602968SLC12A3c.621C>A (p.Ile207=)
c.618C>A (p.Ile206=)
16g.56870115C>GCA395981545SLC12A3c.621C>G (p.Ile207Met)
c.618C>G (p.Ile206Met)
16g.56870115C>TCA495602969SLC12A3c.621C>T (p.Ile207=)
c.618C>T (p.Ile206=)
16g.56870116T>ACA395981557SLC12A3c.622T>A (p.Ser208Thr)
c.619T>A (p.Ser207Thr)
16g.56870116T>CCA395981551SLC12A3c.622T>C (p.Ser208Pro)
c.619T>C (p.Ser207Pro)
16g.56870116T>GCA395981555SLC12A3c.622T>G (p.Ser208Ala)
c.619T>G (p.Ser207Ala)
dbSNP gnomAD v3 gnomAD v4
16g.56870116T=CA2224349273SLC12A3c.622T= (p.Ser208=)
c.619T= (p.Ser207=)
16g.56870117C>ACA395981563SLC12A3c.623C>A (p.Ser208Tyr)
c.620C>A (p.Ser207Tyr)
16g.56870117C=CA2224349274SLC12A3c.623C= (p.Ser208=)
c.620C= (p.Ser207=)
16g.56870117C>GCA395981565SLC12A3c.623C>G (p.Ser208Cys)
c.620C>G (p.Ser207Cys)
16g.56870117C>TCA395981568SLC12A3c.623C>T (p.Ser208Phe)
c.620C>T (p.Ser207Phe)
dbSNP gnomAD v2 gnomAD v4
16g.56870118C>ACA495602970SLC12A3c.624C>A (p.Ser208=)
c.621C>A (p.Ser207=)
16g.56870118C>GCA495602971SLC12A3c.624C>G (p.Ser208=)
c.621C>G (p.Ser207=)
16g.56870118C>TCA495602972SLC12A3c.624C>T (p.Ser208=)
c.621C>T (p.Ser207=)
COSMIC
16g.56870119C>ACA495602973SLC12A3c.625C>A (p.Arg209=)
c.622C>A (p.Arg208=)
16g.56870119C=CA2224349275SLC12A3c.625C= (p.Arg209=)
c.622C= (p.Arg208=)
16g.56870119C>GCA395981572SLC12A3c.625C>G (p.Arg209Gly)
c.622C>G (p.Arg208Gly)
16g.56870119C>TCA119768SLC12A3c.625C>T (p.Arg209Trp)
c.622C>T (p.Arg208Trp)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56870120G>ACA8069131SLC12A3c.626G>A (p.Arg209Gln)
c.623G>A (p.Arg208Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870120G>CCA8069132SLC12A3c.626G>C (p.Arg209Pro)
c.623G>C (p.Arg208Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56870120G=CA2224349276SLC12A3c.626G= (p.Arg209=)
c.623G= (p.Arg208=)
16g.56870120G>TCA395981584SLC12A3c.626G>T (p.Arg209Leu)
c.623G>T (p.Arg208Leu)
16g.56870121G>ACA495602974SLC12A3c.627G>A (p.Arg209=)
c.624G>A (p.Arg208=)
16g.56870121G>CCA495602975SLC12A3c.627G>C (p.Arg209=)
c.624G>C (p.Arg208=)
dbSNP gnomAD v4
16g.56870121G=CA2224349277SLC12A3c.627G= (p.Arg209=)
c.624G= (p.Arg208=)
16g.56870121G>TCA495602976SLC12A3c.627G>T (p.Arg209=)
c.624G>T (p.Arg208=)
16g.56870122A>CCA395981589SLC12A3c.628A>C (p.Ser210Arg)
c.625A>C (p.Ser209Arg)
16g.56870122A>GCA395981593SLC12A3c.628A>G (p.Ser210Gly)
c.625A>G (p.Ser209Gly)
16g.56870122A>TCA395981596SLC12A3c.628A>T (p.Ser210Cys)
c.625A>T (p.Ser209Cys)
16g.56870123G>ACA395981608SLC12A3c.629G>A (p.Ser210Asn)
c.626G>A (p.Ser209Asn)
16g.56870123G>CCA395981605SLC12A3c.629G>C (p.Ser210Thr)
c.626G>C (p.Ser209Thr)
16g.56870123G>TCA395981603SLC12A3c.629G>T (p.Ser210Ile)
c.626G>T (p.Ser209Ile)
16g.56870124T>ACA395981612SLC12A3c.630T>A (p.Ser210Arg)
c.627T>A (p.Ser209Arg)
16g.56870124T>CCA495602977SLC12A3c.630T>C (p.Ser210=)
c.627T>C (p.Ser209=)
16g.56870124T>GCA395981615SLC12A3c.630T>G (p.Ser210Arg)
c.627T>G (p.Ser209Arg)
16g.56870125C>ACA395981618SLC12A3c.631C>A (p.Leu211Met)
c.628C>A (p.Leu210Met)
16g.56870125C=CA2224349278SLC12A3c.631C= (p.Leu211=)
c.628C= (p.Leu210=)
16g.56870125C>GCA281496760SLC12A3c.631C>G (p.Leu211Val)
c.628C>G (p.Leu210Val)
dbSNP
16g.56870125C>TCA495602978SLC12A3c.631C>T (p.Leu211=)
c.628C>T (p.Leu210=)
16g.56870125_56870127delinsCTGCA2224349279SLC12A3c.631_633delinsCTG (p.Leu211=)
c.628_630delinsCTG (p.Leu210=)
16g.56870127_56870138delCA2633371009SLC12A3c.633_644del (p.Gly212_Leu215del)
c.630_641del (p.Gly211_Leu214del)
gnomAD v4
16g.56870126T>ACA395981627SLC12A3c.632T>A (p.Leu211Gln)
c.629T>A (p.Leu210Gln)
16g.56870126T>CCA395981629SLC12A3c.632T>C (p.Leu211Pro)
c.629T>C (p.Leu210Pro)
gnomAD v4
16g.56870126T>GCA395981631SLC12A3c.632T>G (p.Leu211Arg)
c.629T>G (p.Leu210Arg)
16g.56870126_56870127delCA2224349280SLC12A3c.632_633del (p.Leu211ArgfsTer?)
c.629_630del (p.Leu210ArgfsTer?)
dbSNP
16g.56870127G>ACA495602981SLC12A3c.633G>A (p.Leu211=)
c.630G>A (p.Leu210=)
16g.56870127G>CCA495602979SLC12A3c.633G>C (p.Leu211=)
c.630G>C (p.Leu210=)
16g.56870127G>TCA495602980SLC12A3c.633G>T (p.Leu211=)
c.630G>T (p.Leu210=)
16g.56870131_56870145delCA2633371018SLC12A3c.637_651del (p.Pro213_Gly217del)
c.634_648del (p.Pro212_Gly216del)
gnomAD v4
16g.56870128G>ACA395981633SLC12A3c.634G>A (p.Gly212Ser)
c.631G>A (p.Gly211Ser)
ClinVar dbSNP
16g.56870128G>CCA395981636SLC12A3c.634G>C (p.Gly212Arg)
c.631G>C (p.Gly211Arg)
ClinVar gnomAD v4
16g.56870128G=CA2224349281SLC12A3c.634G= (p.Gly212=)
c.631G= (p.Gly211=)
16g.56870128G>TCA395981638SLC12A3c.634G>T (p.Gly212Cys)
c.631G>T (p.Gly211Cys)
16g.56870129G>ACA395981643SLC12A3c.635G>A (p.Gly212Asp)
c.632G>A (p.Gly211Asp)
dbSNP gnomAD v2
16g.56870129G>CCA395981646SLC12A3c.635G>C (p.Gly212Ala)
c.632G>C (p.Gly211Ala)
gnomAD v4
16g.56870129G=CA2224349282SLC12A3c.635G= (p.Gly212=)
c.632G= (p.Gly211=)
16g.56870129G>TCA395981649SLC12A3c.635G>T (p.Gly212Val)
c.632G>T (p.Gly211Val)
ClinVar dbSNP
16g.56870130C>ACA495602983SLC12A3c.636C>A (p.Gly212=)
c.633C>A (p.Gly211=)
16g.56870130C>GCA495602985SLC12A3c.636C>G (p.Gly212=)
c.633C>G (p.Gly211=)
16g.56870130C>TCA495602984SLC12A3c.636C>T (p.Gly212=)
c.633C>T (p.Gly211=)
16g.56870131C>ACA395981661SLC12A3c.637C>A (p.Pro213Thr)
c.634C>A (p.Pro212Thr)
16g.56870131C>GCA395981654SLC12A3c.637C>G (p.Pro213Ala)
c.634C>G (p.Pro212Ala)
16g.56870131C>TCA395981658SLC12A3c.637C>T (p.Pro213Ser)
c.634C>T (p.Pro212Ser)
16g.56870132C>ACA395981670SLC12A3c.638C>A (p.Pro213Gln)
c.635C>A (p.Pro212Gln)
16g.56870132C=CA2224349283SLC12A3c.638C= (p.Pro213=)
c.635C= (p.Pro212=)
16g.56870132C>GCA395981673SLC12A3c.638C>G (p.Pro213Arg)
c.635C>G (p.Pro212Arg)
gnomAD v4
16g.56870132C>TCA395981678SLC12A3c.638C>T (p.Pro213Leu)
c.635C>T (p.Pro212Leu)
dbSNP gnomAD v2 gnomAD v4
16g.56870133A>CCA495602986SLC12A3c.639A>C (p.Pro213=)
c.636A>C (p.Pro212=)
16g.56870133A>GCA495602987SLC12A3c.639A>G (p.Pro213=)
c.636A>G (p.Pro212=)
ClinVar dbSNP gnomAD v4
16g.56870133A>TCA495602988SLC12A3c.639A>T (p.Pro213=)
c.636A>T (p.Pro212=)
16g.56870134G>ACA8069133SLC12A3c.640G>A (p.Glu214Lys)
c.637G>A (p.Glu213Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56870134G>CCA395981685SLC12A3c.640G>C (p.Glu214Gln)
c.637G>C (p.Glu213Gln)
16g.56870134G=CA2224349284SLC12A3c.640G= (p.Glu214=)
c.637G= (p.Glu213=)
16g.56870134G>TCA395981696SLC12A3c.640G>T (p.Glu214Ter)
c.637G>T (p.Glu213Ter)
16g.56870135A>CCA395981701SLC12A3c.641A>C (p.Glu214Ala)
c.638A>C (p.Glu213Ala)
16g.56870135A>GCA395981705SLC12A3c.641A>G (p.Glu214Gly)
c.638A>G (p.Glu213Gly)
16g.56870135A>TCA395981708SLC12A3c.641A>T (p.Glu214Val)
c.638A>T (p.Glu213Val)
16g.56870136G>ACA495602989SLC12A3c.642G>A (p.Glu214=)
c.639G>A (p.Glu213=)
dbSNP
16g.56870136G>CCA395981711SLC12A3c.642G>C (p.Glu214Asp)
c.639G>C (p.Glu213Asp)
dbSNP gnomAD v3 gnomAD v4
16g.56870136G=CA2224349285SLC12A3c.642G= (p.Glu214=)
c.639G= (p.Glu213=)
16g.56870136G>TCA395981714SLC12A3c.642G>T (p.Glu214Asp)
c.639G>T (p.Glu213Asp)
16g.56870137C>ACA395981728SLC12A3c.643C>A (p.Leu215Ile)
c.640C>A (p.Leu214Ile)
16g.56870137C=CA2224349286SLC12A3c.643C= (p.Leu215=)
c.640C= (p.Leu214=)
16g.56870137C>GCA395981723SLC12A3c.643C>G (p.Leu215Val)
c.640C>G (p.Leu214Val)
dbSNP gnomAD v4
16g.56870137C>TCA8069134SLC12A3c.643C>T (p.Leu215Phe)
c.640C>T (p.Leu214Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56870138T>ACA395981733SLC12A3c.644T>A (p.Leu215His)
c.641T>A (p.Leu214His)
16g.56870138T>CCA8069135SLC12A3c.644T>C (p.Leu215Pro)
c.641T>C (p.Leu214Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870138T>GCA395981737SLC12A3c.644T>G (p.Leu215Arg)
c.641T>G (p.Leu214Arg)
dbSNP gnomAD v3 gnomAD v4
16g.56870138T=CA2224349287SLC12A3c.644T= (p.Leu215=)
c.641T= (p.Leu214=)
16g.56870139T>ACA495602992SLC12A3c.645T>A (p.Leu215=)
c.642T>A (p.Leu214=)
16g.56870139T>CCA495602993SLC12A3c.645T>C (p.Leu215=)
c.642T>C (p.Leu214=)
dbSNP gnomAD v3 gnomAD v4
16g.56870139T>GCA495602995SLC12A3c.645T>G (p.Leu215=)
c.642T>G (p.Leu214=)
ClinVar
16g.56870139T=CA2224349288SLC12A3c.645T= (p.Leu215=)
c.642T= (p.Leu214=)
16g.56870140G>ACA395981745SLC12A3c.646G>A (p.Gly216Arg)
c.643G>A (p.Gly215Arg)
16g.56870140G>CCA395981751SLC12A3c.646G>C (p.Gly216Arg)
c.643G>C (p.Gly215Arg)
16g.56870140G>TCA395981747SLC12A3c.646G>T (p.Gly216Trp)
c.643G>T (p.Gly215Trp)
16g.56870141G>ACA395981758SLC12A3c.647G>A (p.Gly216Glu)
c.644G>A (p.Gly215Glu)
ClinVar gnomAD v4 COSMIC
16g.56870141G>CCA395981761SLC12A3c.647G>C (p.Gly216Ala)
c.644G>C (p.Gly215Ala)
16g.56870141G>TCA395981766SLC12A3c.647G>T (p.Gly216Val)
c.644G>T (p.Gly215Val)
16g.56870142G>ACA495603076SLC12A3c.648G>A (p.Gly216=)
c.645G>A (p.Gly215=)
dbSNP gnomAD v2
16g.56870142G>CCA495603077SLC12A3c.648G>C (p.Gly216=)
c.645G>C (p.Gly215=)
16g.56870142G=CA2224349289SLC12A3c.648G= (p.Gly216=)
c.645G= (p.Gly215=)
16g.56870142G>TCA495603079SLC12A3c.648G>T (p.Gly216=)
c.645G>T (p.Gly215=)
16g.56870143G>ACA395981768SLC12A3c.649G>A (p.Gly217Ser)
c.646G>A (p.Gly216Ser)
dbSNP gnomAD v2 gnomAD v4
16g.56870143G>CCA395981775SLC12A3c.649G>C (p.Gly217Arg)
c.646G>C (p.Gly216Arg)
16g.56870143G=CA2224349290SLC12A3c.649G= (p.Gly217=)
c.646G= (p.Gly216=)
16g.56870143G>TCA395981779SLC12A3c.649G>T (p.Gly217Cys)
c.646G>T (p.Gly216Cys)
16g.56870144G>ACA395981785SLC12A3c.650G>A (p.Gly217Asp)
c.647G>A (p.Gly216Asp)
16g.56870144G>CCA395981789SLC12A3c.650G>C (p.Gly217Ala)
c.647G>C (p.Gly216Ala)
16g.56870144G=CA2224349291SLC12A3c.650G= (p.Gly217=)
c.647G= (p.Gly216=)
16g.56870144G>TCA395981790SLC12A3c.650G>T (p.Gly217Val)
c.647G>T (p.Gly216Val)
dbSNP gnomAD v2 gnomAD v4
16g.56870145C>ACA495603082SLC12A3c.651C>A (p.Gly217=)
c.648C>A (p.Gly216=)
dbSNP gnomAD v4
16g.56870145C=CA2224349292SLC12A3c.651C= (p.Gly217=)
c.648C= (p.Gly216=)
16g.56870145C>GCA495603081SLC12A3c.651C>G (p.Gly217=)
c.648C>G (p.Gly216=)
16g.56870145C>TCA8069136SLC12A3c.651C>T (p.Gly217=)
c.648C>T (p.Gly216=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870146T>ACA395981793SLC12A3c.652T>A (p.Ser218Thr)
c.649T>A (p.Ser217Thr)
16g.56870146T>CCA395981798SLC12A3c.652T>C (p.Ser218Pro)
c.649T>C (p.Ser217Pro)
16g.56870146T>GCA395981801SLC12A3c.652T>G (p.Ser218Ala)
c.649T>G (p.Ser217Ala)
gnomAD v4
16g.56870147C>ACA395981816SLC12A3c.653C>A (p.Ser218Tyr)
c.650C>A (p.Ser217Tyr)
16g.56870147C=CA2224349293SLC12A3c.653C= (p.Ser218=)
c.650C= (p.Ser217=)
16g.56870147C>GCA395981811SLC12A3c.653C>G (p.Ser218Cys)
c.650C>G (p.Ser217Cys)
dbSNP gnomAD v2 gnomAD v4
16g.56870147C>TCA395981807SLC12A3c.653C>T (p.Ser218Phe)
c.650C>T (p.Ser217Phe)
gnomAD v4
16g.56870148C>ACA495603083SLC12A3c.654C>A (p.Ser218=)
c.651C>A (p.Ser217=)
16g.56870148C=CA2224349294SLC12A3c.654C= (p.Ser218=)
c.651C= (p.Ser217=)
16g.56870148C>GCA495603085SLC12A3c.654C>G (p.Ser218=)
c.651C>G (p.Ser217=)
16g.56870148C>TCA495603084SLC12A3c.654C>T (p.Ser218=)
c.651C>T (p.Ser217=)
dbSNP gnomAD v2
16g.56870149A>CCA395981818SLC12A3c.655A>C (p.Ile219Leu)
c.652A>C (p.Ile218Leu)
16g.56870149A>GCA395981823SLC12A3c.655A>G (p.Ile219Val)
c.652A>G (p.Ile218Val)
16g.56870149A>TCA395981827SLC12A3c.655A>T (p.Ile219Phe)
c.652A>T (p.Ile218Phe)
16g.56870150T>ACA395981834SLC12A3c.656T>A (p.Ile219Asn)
c.653T>A (p.Ile218Asn)
16g.56870150T>CCA395981838SLC12A3c.656T>C (p.Ile219Thr)
c.653T>C (p.Ile218Thr)
dbSNP gnomAD v3 gnomAD v4
16g.56870150T>GCA395981840SLC12A3c.656T>G (p.Ile219Ser)
c.653T>G (p.Ile218Ser)
16g.56870150T=CA2224349295SLC12A3c.656T= (p.Ile219=)
c.653T= (p.Ile218=)
16g.56870152_56870157delCA2695223669SLC12A3c.658_663del (p.Gly220_Leu221del)
c.655_660del (p.Gly219_Leu220del)
16g.56870151C>ACA495603089SLC12A3c.657C>A (p.Ile219=)
c.654C>A (p.Ile218=)
dbSNP gnomAD v4
16g.56870151C=CA2224349296SLC12A3c.657C= (p.Ile219=)
c.654C= (p.Ile218=)
16g.56870151C>GCA395981846SLC12A3c.657C>G (p.Ile219Met)
c.654C>G (p.Ile218Met)
16g.56870151C>TCA8069137SLC12A3c.657C>T (p.Ile219=)
c.654C>T (p.Ile218=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870152G>ACA395981853SLC12A3c.658G>A (p.Gly220Ser)
c.655G>A (p.Gly219Ser)
dbSNP gnomAD v3 gnomAD v4
16g.56870152G>CCA395981855SLC12A3c.658G>C (p.Gly220Arg)
c.655G>C (p.Gly219Arg)
16g.56870152G=CA2224349297SLC12A3c.658G= (p.Gly220=)
c.655G= (p.Gly219=)
16g.56870152G>TCA395981857SLC12A3c.658G>T (p.Gly220Cys)
c.655G>T (p.Gly219Cys)
COSMIC
16g.56870153delCA2499223588SLC12A3c.659del (p.Gly220AlafsTer?)
c.656del (p.Gly219AlafsTer?)
ClinVar dbSNP
16g.56870153G>ACA395981862SLC12A3c.659G>A (p.Gly220Asp)
c.656G>A (p.Gly219Asp)
16g.56870153G>CCA395981865SLC12A3c.659G>C (p.Gly220Ala)
c.656G>C (p.Gly219Ala)
16g.56870153G>TCA395981866SLC12A3c.659G>T (p.Gly220Val)
c.656G>T (p.Gly219Val)
16g.56870154C>ACA495603095SLC12A3c.660C>A (p.Gly220=)
c.657C>A (p.Gly219=)
16g.56870154C>GCA495603096SLC12A3c.660C>G (p.Gly220=)
c.657C>G (p.Gly219=)
16g.56870154C>TCA495603097SLC12A3c.660C>T (p.Gly220=)
c.657C>T (p.Gly219=)
16g.56870155C>ACA395981875SLC12A3c.661C>A (p.Leu221Ile)
c.658C>A (p.Leu220Ile)
16g.56870155C>GCA395981873SLC12A3c.661C>G (p.Leu221Val)
c.658C>G (p.Leu220Val)
16g.56870155C>TCA395981870SLC12A3c.661C>T (p.Leu221Phe)
c.658C>T (p.Leu220Phe)
gnomAD v4
16g.56870156T>ACA395981878SLC12A3c.662T>A (p.Leu221His)
c.659T>A (p.Leu220His)
16g.56870156T>CCA395981881SLC12A3c.662T>C (p.Leu221Pro)
c.659T>C (p.Leu220Pro)
16g.56870156T>GCA395981883SLC12A3c.662T>G (p.Leu221Arg)
c.659T>G (p.Leu220Arg)
16g.56870157C>ACA495603099SLC12A3c.663C>A (p.Leu221=)
c.660C>A (p.Leu220=)
dbSNP
16g.56870157C>GCA495603100SLC12A3c.663C>G (p.Leu221=)
c.660C>G (p.Leu220=)
16g.56870157C>TCA495603098SLC12A3c.663C>T (p.Leu221=)
c.660C>T (p.Leu220=)
ClinVar
16g.56870158A=CA2224349298SLC12A3c.664A= (p.Ile222=)
c.661A= (p.Ile221=)
16g.56870158A>CCA395981886SLC12A3c.664A>C (p.Ile222Leu)
c.661A>C (p.Ile221Leu)
gnomAD v3 gnomAD v4
16g.56870158A>GCA281496768SLC12A3c.664A>G (p.Ile222Val)
c.661A>G (p.Ile221Val)
dbSNP gnomAD v3 gnomAD v4
16g.56870158A>TCA395981891SLC12A3c.664A>T (p.Ile222Phe)
c.661A>T (p.Ile221Phe)
16g.56870158_56870160delCA2695223670SLC12A3c.664_666del (p.Ile222del)
c.661_663del (p.Ile221del)
16g.56870159T>ACA395981896SLC12A3c.665T>A (p.Ile222Asn)
c.662T>A (p.Ile221Asn)
16g.56870159T>CCA395981898SLC12A3c.665T>C (p.Ile222Thr)
c.662T>C (p.Ile221Thr)
gnomAD v4
16g.56870159T>GCA395981901SLC12A3c.665T>G (p.Ile222Ser)
c.662T>G (p.Ile221Ser)
16g.56870162delCA2695223671SLC12A3c.668del (p.Phe223SerfsTer?)
c.665del (p.Phe222SerfsTer?)
16g.56870160T>ACA495603102SLC12A3c.666T>A (p.Ile222=)
c.663T>A (p.Ile221=)
16g.56870160T>CCA495603103SLC12A3c.666T>C (p.Ile222=)
c.663T>C (p.Ile221=)
16g.56870160T>GCA395981904SLC12A3c.666T>G (p.Ile222Met)
c.663T>G (p.Ile221Met)
16g.56870161T>ACA395981907SLC12A3c.667T>A (p.Phe223Ile)
c.664T>A (p.Phe222Ile)
16g.56870161T>CCA395981909SLC12A3c.667T>C (p.Phe223Leu)
c.664T>C (p.Phe222Leu)
16g.56870161T>GCA395981910SLC12A3c.667T>G (p.Phe223Val)
c.664T>G (p.Phe222Val)
16g.56870162T>ACA395981917SLC12A3c.668T>A (p.Phe223Tyr)
c.665T>A (p.Phe222Tyr)
gnomAD v4
16g.56870162T>CCA395981913SLC12A3c.668T>C (p.Phe223Ser)
c.665T>C (p.Phe222Ser)
16g.56870162T>GCA395981915SLC12A3c.668T>G (p.Phe223Cys)
c.665T>G (p.Phe222Cys)
16g.56870163C>ACA395981919SLC12A3c.669C>A (p.Phe223Leu)
c.666C>A (p.Phe222Leu)
16g.56870163C=CA2224349299SLC12A3c.669C= (p.Phe223=)
c.666C= (p.Phe222=)
16g.56870163C>GCA395981921SLC12A3c.669C>G (p.Phe223Leu)
c.666C>G (p.Phe222Leu)
16g.56870163C>TCA8069138SLC12A3c.669C>T (p.Phe223=)
c.666C>T (p.Phe222=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56870164G>ACA8069139SLC12A3c.670G>A (p.Ala224Thr)
c.667G>A (p.Ala223Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870164G>CCA281496773SLC12A3c.670G>C (p.Ala224Pro)
c.667G>C (p.Ala223Pro)
dbSNP gnomAD v4
16g.56870164G=CA2224349301SLC12A3c.670G= (p.Ala224=)
c.667G= (p.Ala223=)
16g.56870164G>TCA395981925SLC12A3c.670G>T (p.Ala224Ser)
c.667G>T (p.Ala223Ser)
gnomAD v4
16g.56870164_56870166delinsGCTCA2224349300SLC12A3c.670_672delinsGCT (p.Ala224=)
c.667_669delinsGCT (p.Ala223=)
16g.56870165C>ACA395981927SLC12A3c.671C>A (p.Ala224Asp)
c.668C>A (p.Ala223Asp)
ClinVar dbSNP gnomAD v4
16g.56870165C=CA2224349303SLC12A3c.671C= (p.Ala224=)
c.668C= (p.Ala223=)
16g.56870165C>GCA395981928SLC12A3c.671C>G (p.Ala224Gly)
c.668C>G (p.Ala223Gly)
16g.56870165C>TCA395981931SLC12A3c.671C>T (p.Ala224Val)
c.668C>T (p.Ala223Val)
dbSNP gnomAD v2 gnomAD v4
16g.56870165_56870166delCA2224349302SLC12A3c.671_672del (p.Ala224ValfsTer?)
c.668_669del (p.Ala223ValfsTer?)
ClinVar dbSNP gnomAD v4
16g.56870166T>ACA495603109SLC12A3c.672T>A (p.Ala224=)
c.669T>A (p.Ala223=)
16g.56870166T>CCA495603110SLC12A3c.672T>C (p.Ala224=)
c.669T>C (p.Ala223=)
ClinVar dbSNP
16g.56870166T>GCA495603111SLC12A3c.672T>G (p.Ala224=)
c.669T>G (p.Ala223=)
16g.56870167T>ACA395981933SLC12A3c.673T>A (p.Phe225Ile)
c.670T>A (p.Phe224Ile)
16g.56870167T>CCA395981935SLC12A3c.673T>C (p.Phe225Leu)
c.670T>C (p.Phe224Leu)
16g.56870167T>GCA395981937SLC12A3c.673T>G (p.Phe225Val)
c.670T>G (p.Phe224Val)
16g.56870168T>ACA395981939SLC12A3c.674T>A (p.Phe225Tyr)
c.671T>A (p.Phe224Tyr)
16g.56870168T>CCA395981941SLC12A3c.674T>C (p.Phe225Ser)
c.671T>C (p.Phe224Ser)
gnomAD v4
16g.56870168T>GCA395981940SLC12A3c.674T>G (p.Phe225Cys)
c.671T>G (p.Phe224Cys)
16g.56870168_56870169delinsTCCA2224349304SLC12A3c.674_675delinsTC (p.Phe225=)
c.671_672delinsTC (p.Phe224=)
16g.56870169delCA622333933SLC12A3c.675del (p.Phe225LeufsTer?)
c.672del (p.Phe224LeufsTer?)
dbSNP gnomAD v2 gnomAD v4
16g.56870169C>ACA395981942SLC12A3c.675C>A (p.Phe225Leu)
c.672C>A (p.Phe224Leu)
16g.56870169C=CA2224349305SLC12A3c.675C= (p.Phe225=)
c.672C= (p.Phe224=)
16g.56870169C>GCA395981944SLC12A3c.675C>G (p.Phe225Leu)
c.672C>G (p.Phe224Leu)
16g.56870169C>TCA8069140SLC12A3c.675C>T (p.Phe225=)
c.672C>T (p.Phe224=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870170G>ACA8069141SLC12A3c.676G>A (p.Ala226Thr)
c.673G>A (p.Ala225Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870170G>CCA395981946SLC12A3c.676G>C (p.Ala226Pro)
c.673G>C (p.Ala225Pro)
16g.56870170G=CA2224349306SLC12A3c.676G= (p.Ala226=)
c.673G= (p.Ala225=)
16g.56870170G>TCA395981948SLC12A3c.676G>T (p.Ala226Ser)
c.673G>T (p.Ala225Ser)
ClinVar gnomAD v4
16g.56870171C>ACA8069142SLC12A3c.677C>A (p.Ala226Asp)
c.674C>A (p.Ala225Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870171C=CA2224349307SLC12A3c.677C= (p.Ala226=)
c.674C= (p.Ala225=)
16g.56870171C>GCA395981951SLC12A3c.677C>G (p.Ala226Gly)
c.674C>G (p.Ala225Gly)
16g.56870171C>TCA395981953SLC12A3c.677C>T (p.Ala226Val)
c.674C>T (p.Ala225Val)
16g.56870171_56870172insACA622333937SLC12A3c.677_678insA (p.Asn227GlnfsTer?)
c.674_675insA (p.Asn226GlnfsTer?)
gnomAD v2 gnomAD v4
16g.56870172C>ACA495603112SLC12A3c.678C>A (p.Ala226=)
c.675C>A (p.Ala225=)
16g.56870172C=CA2224349308SLC12A3c.678C= (p.Ala226=)
c.675C= (p.Ala225=)
16g.56870172C>GCA8069143SLC12A3c.678C>G (p.Ala226=)
c.675C>G (p.Ala225=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56870172C>TCA495603113SLC12A3c.678C>T (p.Ala226=)
c.675C>T (p.Ala225=)
16g.56870173A=CA2224349310SLC12A3c.679A= (p.Asn227=)
c.676A= (p.Asn226=)
16g.56870173A>CCA395981954SLC12A3c.679A>C (p.Asn227His)
c.676A>C (p.Asn226His)
16g.56870173A>GCA395981955SLC12A3c.679A>G (p.Asn227Asp)
c.676A>G (p.Asn226Asp)
16g.56870173A>TCA395981957SLC12A3c.679A>T (p.Asn227Tyr)
c.676A>T (p.Asn226Tyr)
dbSNP
16g.56870173_56870177delinsAATGCCA2224349309SLC12A3c.679_683delinsAATGC (p.Asn227=)
c.676_680delinsAATGC (p.Asn226=)
16g.56870174A=CA2224349311SLC12A3c.680A= (p.Asn227=)
c.677A= (p.Asn226=)
16g.56870174A>CCA8069144SLC12A3c.680A>C (p.Asn227Thr)
c.677A>C (p.Asn226Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56870174A>GCA395981960SLC12A3c.680A>G (p.Asn227Ser)
c.677A>G (p.Asn226Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56870174A>TCA395981963SLC12A3c.680A>T (p.Asn227Ile)
c.677A>T (p.Asn226Ile)
16g.56870174_56870177delCA622333938SLC12A3c.680_683del (p.Asn227ThrfsTer?)
c.677_680del (p.Asn226ThrfsTer?)
dbSNP gnomAD v2 gnomAD v4
16g.56870175T>ACA395981965SLC12A3c.681T>A (p.Asn227Lys)
c.678T>A (p.Asn226Lys)
16g.56870175T>CCA495603114SLC12A3c.681T>C (p.Asn227=)
c.678T>C (p.Asn226=)
16g.56870175T>GCA8069145SLC12A3c.681T>G (p.Asn227Lys)
c.678T>G (p.Asn226Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56870175T=CA2224349312SLC12A3c.681T= (p.Asn227=)
c.678T= (p.Asn226=)
16g.56870176G>ACA8069146SLC12A3c.682G>A (p.Ala228Thr)
c.679G>A (p.Ala227Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.56870176G>CCA395981968SLC12A3c.682G>C (p.Ala228Pro)
c.679G>C (p.Ala227Pro)
16g.56870176G=CA2224349313SLC12A3c.682G= (p.Ala228=)
c.679G= (p.Ala227=)
16g.56870176G>TCA395981971SLC12A3c.682G>T (p.Ala228Ser)
c.679G>T (p.Ala227Ser)
16g.56870177C>ACA395981973SLC12A3c.683C>A (p.Ala228Asp)
c.680C>A (p.Ala227Asp)
16g.56870177C>GCA395981974SLC12A3c.683C>G (p.Ala228Gly)
c.680C>G (p.Ala227Gly)
16g.56870177C>TCA395981977SLC12A3c.683C>T (p.Ala228Val)
c.680C>T (p.Ala227Val)
COSMIC

Number of alleles fetched