Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.56904388dupCA2633380478SLC12A3c.2857-7dup (n.2857-7dup)
c.2854-7dup (n.2854-7dup)
c.2884-7dup (n.2884-7dup)
c.2881-7dup (n.2881-7dup)
n.288-7dup
 gnomAD v4
16g.56904388C>ACA2633380491SLC12A3c.2857-7C>A (n.2857-7C>A)
c.2854-7C>A (n.2854-7C>A)
c.2884-7C>A (n.2884-7C>A)
c.2881-7C>A (n.2881-7C>A)
n.288-7C>A
 gnomAD v4
16g.56904388C=CA2224365722SLC12A3c.2857-7C= (n.2857-7C=)
c.2854-7C= (n.2854-7C=)
c.2884-7C= (n.2884-7C=)
c.2881-7C= (n.2881-7C=)
n.288-7C=
16g.56904388C>GCA2633380496SLC12A3c.2857-7C>G (n.2857-7C>G)
c.2854-7C>G (n.2854-7C>G)
c.2884-7C>G (n.2884-7C>G)
c.2881-7C>G (n.2881-7C>G)
n.288-7C>G
 gnomAD v4
16g.56904388C>TCA8070127SLC12A3c.2857-7C>T (n.2857-7C>T)
c.2854-7C>T (n.2854-7C>T)
c.2884-7C>T (n.2884-7C>T)
c.2881-7C>T (n.2881-7C>T)
n.288-7C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904389G>ACA8070128SLC12A3c.2857-6G>A (n.2857-6G>A)
c.2854-6G>A (n.2854-6G>A)
c.2884-6G>A (n.2884-6G>A)
c.2881-6G>A (n.2881-6G>A)
n.288-6G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904389G=CA2224365723SLC12A3c.2857-6G= (n.2857-6G=)
c.2854-6G= (n.2854-6G=)
c.2884-6G= (n.2884-6G=)
c.2881-6G= (n.2881-6G=)
n.288-6G=
16g.56904389G>TCA721950602SLC12A3c.2857-6G>T (n.2857-6G>T)
c.2854-6G>T (n.2854-6G>T)
c.2884-6G>T (n.2884-6G>T)
c.2881-6G>T (n.2881-6G>T)
n.288-6G>T
 ClinVar dbSNP gnomAD v4
16g.56904390C=CA2224365724SLC12A3c.2857-5C= (n.2857-5C=)
c.2854-5C= (n.2854-5C=)
c.2884-5C= (n.2884-5C=)
c.2881-5C= (n.2881-5C=)
n.288-5C=
16g.56904390C>TCA8070129SLC12A3c.2857-5C>T (n.2857-5C>T)
c.2854-5C>T (n.2854-5C>T)
c.2884-5C>T (n.2884-5C>T)
c.2881-5C>T (n.2881-5C>T)
n.288-5C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904393A>CCA396002152SLC12A3c.2857-2A>C (n.2857-2A>C)
c.2854-2A>C (n.2854-2A>C)
c.2884-2A>C (n.2884-2A>C)
c.2881-2A>C (n.2881-2A>C)
n.288-2A>C
16g.56904393A>GCA396002155SLC12A3c.2857-2A>G (n.2857-2A>G)
c.2854-2A>G (n.2854-2A>G)
c.2884-2A>G (n.2884-2A>G)
c.2881-2A>G (n.2881-2A>G)
n.288-2A>G
16g.56904393A>TCA396002158SLC12A3c.2857-2A>T (n.2857-2A>T)
c.2854-2A>T (n.2854-2A>T)
c.2884-2A>T (n.2884-2A>T)
c.2881-2A>T (n.2881-2A>T)
n.288-2A>T
16g.56904394G>ACA396002162SLC12A3c.2857-1G>A (n.2857-1G>A)
c.2854-1G>A (n.2854-1G>A)
c.2884-1G>A (n.2884-1G>A)
c.2881-1G>A (n.2881-1G>A)
n.288-1G>A
 ClinVar dbSNP
16g.56904394G>CCA396002165SLC12A3c.2857-1G>C (n.2857-1G>C)
c.2854-1G>C (n.2854-1G>C)
c.2884-1G>C (n.2884-1G>C)
c.2881-1G>C (n.2881-1G>C)
n.288-1G>C
16g.56904394G>TCA396002168SLC12A3c.2857-1G>T (n.2857-1G>T)
c.2854-1G>T (n.2854-1G>T)
c.2884-1G>T (n.2884-1G>T)
c.2881-1G>T (n.2881-1G>T)
n.288-1G>T
16g.56904395T>ACA396002172SLC12A3c.2857T>A (p.Ser953Thr)
c.2854T>A (p.Ser952Thr)
c.2884T>A (p.Ser962Thr)
c.2881T>A (p.Ser961Thr)
n.288T>A
16g.56904395T>CCA396002178SLC12A3c.2857T>C (p.Ser953Pro)
c.2854T>C (p.Ser952Pro)
c.2884T>C (p.Ser962Pro)
c.2881T>C (p.Ser961Pro)
n.288T>C
16g.56904395T>GCA396002175SLC12A3c.2857T>G (p.Ser953Ala)
c.2854T>G (p.Ser952Ala)
c.2884T>G (p.Ser962Ala)
c.2881T>G (p.Ser961Ala)
n.288T>G
16g.56904396C>ACA396002184SLC12A3c.2858C>A (p.Ser953Tyr)
c.2855C>A (p.Ser952Tyr)
c.2885C>A (p.Ser962Tyr)
c.2882C>A (p.Ser961Tyr)
n.289C>A
 gnomAD v4
16g.56904396C>GCA396002190SLC12A3c.2858C>G (p.Ser953Cys)
c.2855C>G (p.Ser952Cys)
c.2885C>G (p.Ser962Cys)
c.2882C>G (p.Ser961Cys)
n.289C>G
16g.56904396C>TCA396002194SLC12A3c.2858C>T (p.Ser953Phe)
c.2855C>T (p.Ser952Phe)
c.2885C>T (p.Ser962Phe)
c.2882C>T (p.Ser961Phe)
n.289C>T
16g.56904397C>ACA495613544SLC12A3c.2859C>A (p.Ser953=)
c.2856C>A (p.Ser952=)
c.2886C>A (p.Ser962=)
c.2883C>A (p.Ser961=)
n.290C>A
16g.56904397C=CA2224365725SLC12A3c.2859C= (p.Ser953=)
c.2856C= (p.Ser952=)
c.2886C= (p.Ser962=)
c.2883C= (p.Ser961=)
n.290C=
16g.56904397C>GCA495613545SLC12A3c.2859C>G (p.Ser953=)
c.2856C>G (p.Ser952=)
c.2886C>G (p.Ser962=)
c.2883C>G (p.Ser961=)
n.290C>G
16g.56904397C>TCA8070130SLC12A3c.2859C>T (p.Ser953=)
c.2856C>T (p.Ser952=)
c.2886C>T (p.Ser962=)
c.2883C>T (p.Ser961=)
n.290C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56904398C>ACA396002203SLC12A3c.2860C>A (p.Leu954Ile)
c.2857C>A (p.Leu953Ile)
c.2887C>A (p.Leu963Ile)
c.2884C>A (p.Leu962Ile)
n.291C>A
16g.56904398C>GCA396002211SLC12A3c.2860C>G (p.Leu954Val)
c.2857C>G (p.Leu953Val)
c.2887C>G (p.Leu963Val)
c.2884C>G (p.Leu962Val)
n.291C>G
16g.56904398C>TCA396002207SLC12A3c.2860C>T (p.Leu954Phe)
c.2857C>T (p.Leu953Phe)
c.2887C>T (p.Leu963Phe)
c.2884C>T (p.Leu962Phe)
n.291C>T
16g.56904399T>ACA396002217SLC12A3c.2861T>A (p.Leu954His)
c.2858T>A (p.Leu953His)
c.2888T>A (p.Leu963His)
c.2885T>A (p.Leu962His)
n.292T>A
16g.56904399T>CCA396002219SLC12A3c.2861T>C (p.Leu954Pro)
c.2858T>C (p.Leu953Pro)
c.2888T>C (p.Leu963Pro)
c.2885T>C (p.Leu962Pro)
n.292T>C
16g.56904399T>GCA396002223SLC12A3c.2861T>G (p.Leu954Arg)
c.2858T>G (p.Leu953Arg)
c.2888T>G (p.Leu963Arg)
c.2885T>G (p.Leu962Arg)
n.292T>G
16g.56904400T>ACA495613548SLC12A3c.2862T>A (p.Leu954=)
c.2859T>A (p.Leu953=)
c.2889T>A (p.Leu963=)
c.2886T>A (p.Leu962=)
n.293T>A
16g.56904400T>CCA495613547SLC12A3c.2862T>C (p.Leu954=)
c.2859T>C (p.Leu953=)
c.2889T>C (p.Leu963=)
c.2886T>C (p.Leu962=)
n.293T>C
16g.56904400T>GCA495613546SLC12A3c.2862T>G (p.Leu954=)
c.2859T>G (p.Leu953=)
c.2889T>G (p.Leu963=)
c.2886T>G (p.Leu962=)
n.293T>G
16g.56904401C>ACA495613549SLC12A3c.2863C>A (p.Arg955=)
c.2860C>A (p.Arg954=)
c.2890C>A (p.Arg964=)
c.2887C>A (p.Arg963=)
n.294C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56904401C=CA2224365726SLC12A3c.2863C= (p.Arg955=)
c.2860C= (p.Arg954=)
c.2890C= (p.Arg964=)
c.2887C= (p.Arg963=)
n.294C=
16g.56904401C>GCA396002228SLC12A3c.2863C>G (p.Arg955Gly)
c.2860C>G (p.Arg954Gly)
c.2890C>G (p.Arg964Gly)
c.2887C>G (p.Arg963Gly)
n.294C>G
16g.56904401C>TCA8070131SLC12A3c.2863C>T (p.Arg955Trp)
c.2860C>T (p.Arg954Trp)
c.2890C>T (p.Arg964Trp)
c.2887C>T (p.Arg963Trp)
n.294C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904402G>ACA8070132SLC12A3c.2864G>A (p.Arg955Gln)
c.2861G>A (p.Arg954Gln)
c.2891G>A (p.Arg964Gln)
c.2888G>A (p.Arg963Gln)
n.295G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56904402G>CCA396002234SLC12A3c.2864G>C (p.Arg955Pro)
c.2861G>C (p.Arg954Pro)
c.2891G>C (p.Arg964Pro)
c.2888G>C (p.Arg963Pro)
n.295G>C
 ClinVar
16g.56904402G=CA2224365727SLC12A3c.2864G= (p.Arg955=)
c.2861G= (p.Arg954=)
c.2891G= (p.Arg964=)
c.2888G= (p.Arg963=)
n.295G=
16g.56904402G>TCA396002236SLC12A3c.2864G>T (p.Arg955Leu)
c.2861G>T (p.Arg954Leu)
c.2891G>T (p.Arg964Leu)
c.2888G>T (p.Arg963Leu)
n.295G>T
16g.56904404_56904407dupCA2633380547SLC12A3c.2866_2869dup (p.Val957AlafsTer6)
c.2863_2866dup (p.Val956AlafsTer6)
c.2893_2896dup (p.Val966AlafsTer6)
c.2890_2893dup (p.Val965AlafsTer6)
n.297_300dup
 gnomAD v4
16g.56904403G>ACA495613550SLC12A3c.2865G>A (p.Arg955=)
c.2862G>A (p.Arg954=)
c.2892G>A (p.Arg964=)
c.2889G>A (p.Arg963=)
n.296G>A
16g.56904403G>CCA495613551SLC12A3c.2865G>C (p.Arg955=)
c.2862G>C (p.Arg954=)
c.2892G>C (p.Arg964=)
c.2889G>C (p.Arg963=)
n.296G>C
16g.56904403G>TCA495613552SLC12A3c.2865G>T (p.Arg955=)
c.2862G>T (p.Arg954=)
c.2892G>T (p.Arg964=)
c.2889G>T (p.Arg963=)
n.296G>T
 dbSNP
16g.56904404C>ACA396002240SLC12A3c.2866C>A (p.Gln956Lys)
c.2863C>A (p.Gln955Lys)
c.2893C>A (p.Gln965Lys)
c.2890C>A (p.Gln964Lys)
n.297C>A
16g.56904404C=CA2224365728SLC12A3c.2866C= (p.Gln956=)
c.2863C= (p.Gln955=)
c.2893C= (p.Gln965=)
c.2890C= (p.Gln964=)
n.297C=
16g.56904404C>GCA396002241SLC12A3c.2866C>G (p.Gln956Glu)
c.2863C>G (p.Gln955Glu)
c.2893C>G (p.Gln965Glu)
c.2890C>G (p.Gln964Glu)
n.297C>G
 ClinVar

Number of alleles fetched