Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.56902421C>ACA495613313SLC12A3c.2769C>A (p.Gly923=)
c.2766C>A (p.Gly922=)
c.2796C>A (p.Gly932=)
c.2793C>A (p.Gly931=)
n.200C>A
16g.56902421C>GCA495613314SLC12A3c.2769C>G (p.Gly923=)
c.2766C>G (p.Gly922=)
c.2796C>G (p.Gly932=)
c.2793C>G (p.Gly931=)
n.200C>G
16g.56902421C>TCA495613315SLC12A3c.2769C>T (p.Gly923=)
c.2766C>T (p.Gly922=)
c.2796C>T (p.Gly932=)
c.2793C>T (p.Gly931=)
n.200C>T
16g.56902422T>ACA396001230SLC12A3c.2770T>A (p.Phe924Ile)
c.2767T>A (p.Phe923Ile)
c.2797T>A (p.Phe933Ile)
c.2794T>A (p.Phe932Ile)
n.201T>A
16g.56902422T>CCA396001231SLC12A3c.2770T>C (p.Phe924Leu)
c.2767T>C (p.Phe923Leu)
c.2797T>C (p.Phe933Leu)
c.2794T>C (p.Phe932Leu)
n.201T>C
16g.56902422T>GCA8070057SLC12A3c.2770T>G (p.Phe924Val)
c.2767T>G (p.Phe923Val)
c.2797T>G (p.Phe933Val)
c.2794T>G (p.Phe932Val)
n.201T>G
 dbSNP ExAC gnomAD v2
16g.56902422T=CA2224364815SLC12A3c.2770T= (p.Phe924=)
c.2767T= (p.Phe923=)
c.2797T= (p.Phe933=)
c.2794T= (p.Phe932=)
n.201T=
16g.56902423T>ACA396001234SLC12A3c.2771T>A (p.Phe924Tyr)
c.2768T>A (p.Phe923Tyr)
c.2798T>A (p.Phe933Tyr)
c.2795T>A (p.Phe932Tyr)
n.202T>A
16g.56902423T>CCA396001236SLC12A3c.2771T>C (p.Phe924Ser)
c.2768T>C (p.Phe923Ser)
c.2798T>C (p.Phe933Ser)
c.2795T>C (p.Phe932Ser)
n.202T>C
16g.56902423T>GCA396001237SLC12A3c.2771T>G (p.Phe924Cys)
c.2768T>G (p.Phe923Cys)
c.2798T>G (p.Phe933Cys)
c.2795T>G (p.Phe932Cys)
n.202T>G
16g.56902424C>ACA396001238SLC12A3c.2772C>A (p.Phe924Leu)
c.2769C>A (p.Phe923Leu)
c.2799C>A (p.Phe933Leu)
c.2796C>A (p.Phe932Leu)
n.203C>A
 COSMIC
16g.56902424C>GCA396001240SLC12A3c.2772C>G (p.Phe924Leu)
c.2769C>G (p.Phe923Leu)
c.2799C>G (p.Phe933Leu)
c.2796C>G (p.Phe932Leu)
n.203C>G
 gnomAD v4
16g.56902424C>TCA495613318SLC12A3c.2772C>T (p.Phe924=)
c.2769C>T (p.Phe923=)
c.2799C>T (p.Phe933=)
c.2796C>T (p.Phe932=)
n.203C>T
16g.56902425A>CCA396001243SLC12A3c.2773A>C (p.Lys925Gln)
c.2770A>C (p.Lys924Gln)
c.2800A>C (p.Lys934Gln)
c.2797A>C (p.Lys933Gln)
n.204A>C
16g.56902425A>GCA396001244SLC12A3c.2773A>G (p.Lys925Glu)
c.2770A>G (p.Lys924Glu)
c.2800A>G (p.Lys934Glu)
c.2797A>G (p.Lys933Glu)
n.204A>G
16g.56902425A>TCA396001246SLC12A3c.2773A>T (p.Lys925Ter)
c.2770A>T (p.Lys924Ter)
c.2800A>T (p.Lys934Ter)
c.2797A>T (p.Lys933Ter)
n.204A>T
16g.56902426A=CA2224364816SLC12A3c.2774A= (p.Lys925=)
c.2771A= (p.Lys924=)
c.2801A= (p.Lys934=)
c.2798A= (p.Lys933=)
n.205A=
16g.56902426A>CCA8070058SLC12A3c.2774A>C (p.Lys925Thr)
c.2771A>C (p.Lys924Thr)
c.2801A>C (p.Lys934Thr)
c.2798A>C (p.Lys933Thr)
n.205A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56902426A>GCA281519746SLC12A3c.2774A>G (p.Lys925Arg)
c.2771A>G (p.Lys924Arg)
c.2801A>G (p.Lys934Arg)
c.2798A>G (p.Lys933Arg)
n.205A>G
 dbSNP
16g.56902426A>TCA396001249SLC12A3c.2774A>T (p.Lys925Met)
c.2771A>T (p.Lys924Met)
c.2801A>T (p.Lys934Met)
c.2798A>T (p.Lys933Met)
n.205A>T
16g.56902427G>ACA495613320SLC12A3c.2775G>A (p.Lys925=)
c.2772G>A (p.Lys924=)
c.2802G>A (p.Lys934=)
c.2799G>A (p.Lys933=)
n.206G>A
16g.56902427G>CCA396001253SLC12A3c.2775G>C (p.Lys925Asn)
c.2772G>C (p.Lys924Asn)
c.2802G>C (p.Lys934Asn)
c.2799G>C (p.Lys933Asn)
n.206G>C
16g.56902427G>TCA396001254SLC12A3c.2775G>T (p.Lys925Asn)
c.2772G>T (p.Lys924Asn)
c.2802G>T (p.Lys934Asn)
c.2799G>T (p.Lys933Asn)
n.206G>T
16g.56902428G>ACA396001255SLC12A3c.2776G>A (p.Asp926Asn)
c.2773G>A (p.Asp925Asn)
c.2803G>A (p.Asp935Asn)
c.2800G>A (p.Asp934Asn)
n.207G>A
 dbSNP
16g.56902428G>CCA396001258SLC12A3c.2776G>C (p.Asp926His)
c.2773G>C (p.Asp925His)
c.2803G>C (p.Asp935His)
c.2800G>C (p.Asp934His)
n.207G>C
 dbSNP
16g.56902428G=CA2224364817SLC12A3c.2776G= (p.Asp926=)
c.2773G= (p.Asp925=)
c.2803G= (p.Asp935=)
c.2800G= (p.Asp934=)
n.207G=
16g.56902428G>TCA396001260SLC12A3c.2776G>T (p.Asp926Tyr)
c.2773G>T (p.Asp925Tyr)
c.2803G>T (p.Asp935Tyr)
c.2800G>T (p.Asp934Tyr)
n.207G>T
16g.56902429A>CCA396001261SLC12A3c.2777A>C (p.Asp926Ala)
c.2774A>C (p.Asp925Ala)
c.2804A>C (p.Asp935Ala)
c.2801A>C (p.Asp934Ala)
n.208A>C
16g.56902429A>GCA396001262SLC12A3c.2777A>G (p.Asp926Gly)
c.2774A>G (p.Asp925Gly)
c.2804A>G (p.Asp935Gly)
c.2801A>G (p.Asp934Gly)
n.208A>G
16g.56902429A>TCA396001264SLC12A3c.2777A>T (p.Asp926Val)
c.2774A>T (p.Asp925Val)
c.2804A>T (p.Asp935Val)
c.2801A>T (p.Asp934Val)
n.208A>T
16g.56902430T>ACA396001266SLC12A3c.2778T>A (p.Asp926Glu)
c.2775T>A (p.Asp925Glu)
c.2805T>A (p.Asp935Glu)
c.2802T>A (p.Asp934Glu)
n.209T>A
16g.56902430T>CCA495613324SLC12A3c.2778T>C (p.Asp926=)
c.2775T>C (p.Asp925=)
c.2805T>C (p.Asp935=)
c.2802T>C (p.Asp934=)
n.209T>C
16g.56902430T>GCA396001268SLC12A3c.2778T>G (p.Asp926Glu)
c.2775T>G (p.Asp925Glu)
c.2805T>G (p.Asp935Glu)
c.2802T>G (p.Asp934Glu)
n.209T>G
16g.56902431G>ACA396001271SLC12A3c.2779G>A (p.Glu927Lys)
c.2776G>A (p.Glu926Lys)
c.2806G>A (p.Glu936Lys)
c.2803G>A (p.Glu935Lys)
n.210G>A
16g.56902431G>CCA396001272SLC12A3c.2779G>C (p.Glu927Gln)
c.2776G>C (p.Glu926Gln)
c.2806G>C (p.Glu936Gln)
c.2803G>C (p.Glu935Gln)
n.210G>C
16g.56902431G>TCA396001273SLC12A3c.2779G>T (p.Glu927Ter)
c.2776G>T (p.Glu926Ter)
c.2806G>T (p.Glu936Ter)
c.2803G>T (p.Glu935Ter)
n.210G>T
16g.56902432A>CCA396001279SLC12A3c.2780A>C (p.Glu927Ala)
c.2777A>C (p.Glu926Ala)
c.2807A>C (p.Glu936Ala)
c.2804A>C (p.Glu935Ala)
n.211A>C
16g.56902432A>GCA396001278SLC12A3c.2780A>G (p.Glu927Gly)
c.2777A>G (p.Glu926Gly)
c.2807A>G (p.Glu936Gly)
c.2804A>G (p.Glu935Gly)
n.211A>G
16g.56902432A>TCA396001276SLC12A3c.2780A>T (p.Glu927Val)
c.2777A>T (p.Glu926Val)
c.2807A>T (p.Glu936Val)
c.2804A>T (p.Glu935Val)
n.211A>T
16g.56902432_56902435dupCA2695223515SLC12A3c.2780_2783dup (p.Thr929GlyfsTer17)
c.2777_2780dup (p.Thr928GlyfsTer17)
c.2807_2810dup (p.Thr938GlyfsTer17)
c.2804_2807dup (p.Thr937GlyfsTer17)
n.211_214dup
16g.56902433G>ACA495613325SLC12A3c.2781G>A (p.Glu927=)
c.2778G>A (p.Glu926=)
c.2808G>A (p.Glu936=)
c.2805G>A (p.Glu935=)
n.212G>A
 ClinVar dbSNP gnomAD v4
16g.56902433G>CCA396001283SLC12A3c.2781G>C (p.Glu927Asp)
c.2778G>C (p.Glu926Asp)
c.2808G>C (p.Glu936Asp)
c.2805G>C (p.Glu935Asp)
n.212G>C
16g.56902433G>TCA396001281SLC12A3c.2781G>T (p.Glu927Asp)
c.2778G>T (p.Glu926Asp)
c.2808G>T (p.Glu936Asp)
c.2805G>T (p.Glu935Asp)
n.212G>T
16g.56902434G>ACA396001287SLC12A3c.2782G>A (p.Ala928Thr)
c.2779G>A (p.Ala927Thr)
c.2809G>A (p.Ala937Thr)
c.2806G>A (p.Ala936Thr)
n.213G>A
 dbSNP gnomAD v2
16g.56902434G>CCA396001284SLC12A3c.2782G>C (p.Ala928Pro)
c.2779G>C (p.Ala927Pro)
c.2809G>C (p.Ala937Pro)
c.2806G>C (p.Ala936Pro)
n.213G>C
16g.56902434G=CA2224364818SLC12A3c.2782G= (p.Ala928=)
c.2779G= (p.Ala927=)
c.2809G= (p.Ala937=)
c.2806G= (p.Ala936=)
n.213G=
16g.56902434G>TCA396001285SLC12A3c.2782G>T (p.Ala928Ser)
c.2779G>T (p.Ala927Ser)
c.2809G>T (p.Ala937Ser)
c.2806G>T (p.Ala936Ser)
n.213G>T
16g.56902435C>ACA396001288SLC12A3c.2783C>A (p.Ala928Asp)
c.2780C>A (p.Ala927Asp)
c.2810C>A (p.Ala937Asp)
c.2807C>A (p.Ala936Asp)
n.214C>A
16g.56902435C=CA2224364819SLC12A3c.2783C= (p.Ala928=)
c.2780C= (p.Ala927=)
c.2810C= (p.Ala937=)
c.2807C= (p.Ala936=)
n.214C=
16g.56902435C>GCA396001289SLC12A3c.2783C>G (p.Ala928Gly)
c.2780C>G (p.Ala927Gly)
c.2810C>G (p.Ala937Gly)
c.2807C>G (p.Ala936Gly)
n.214C>G

Number of alleles fetched