Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
16g.56902435C>TCA396001292SLC12A3c.2783C>T (p.Ala928Val)
c.2780C>T (p.Ala927Val)
c.2810C>T (p.Ala937Val)
c.2807C>T (p.Ala936Val)
n.214C>T
 dbSNP gnomAD v2 gnomAD v4
16g.56902436C>ACA495613326SLC12A3c.2784C>A (p.Ala928=)
c.2781C>A (p.Ala927=)
c.2811C>A (p.Ala937=)
c.2808C>A (p.Ala936=)
n.215C>A
16g.56902436C=CA2224364820SLC12A3c.2784C= (p.Ala928=)
c.2781C= (p.Ala927=)
c.2811C= (p.Ala937=)
c.2808C= (p.Ala936=)
n.215C=
16g.56902436C>GCA495613328SLC12A3c.2784C>G (p.Ala928=)
c.2781C>G (p.Ala927=)
c.2811C>G (p.Ala937=)
c.2808C>G (p.Ala936=)
n.215C>G
 dbSNP
16g.56902436C>TCA495613327SLC12A3c.2784C>T (p.Ala928=)
c.2781C>T (p.Ala927=)
c.2811C>T (p.Ala937=)
c.2808C>T (p.Ala936=)
n.215C>T
 ClinVar dbSNP gnomAD v4
16g.56902437A>CCA396001294SLC12A3c.2785A>C (p.Thr929Pro)
c.2782A>C (p.Thr928Pro)
c.2812A>C (p.Thr938Pro)
c.2809A>C (p.Thr937Pro)
n.216A>C
16g.56902437A>GCA396001296SLC12A3c.2785A>G (p.Thr929Ala)
c.2782A>G (p.Thr928Ala)
c.2812A>G (p.Thr938Ala)
c.2809A>G (p.Thr937Ala)
n.216A>G
16g.56902437A>TCA396001297SLC12A3c.2785A>T (p.Thr929Ser)
c.2782A>T (p.Thr928Ser)
c.2812A>T (p.Thr938Ser)
c.2809A>T (p.Thr937Ser)
n.216A>T
 gnomAD v4
16g.56902438C>ACA396001300SLC12A3c.2786C>A (p.Thr929Asn)
c.2783C>A (p.Thr928Asn)
c.2813C>A (p.Thr938Asn)
c.2810C>A (p.Thr937Asn)
n.217C>A
16g.56902438C>GCA396001302SLC12A3c.2786C>G (p.Thr929Ser)
c.2783C>G (p.Thr928Ser)
c.2813C>G (p.Thr938Ser)
c.2810C>G (p.Thr937Ser)
n.217C>G
16g.56902438C>TCA396001303SLC12A3c.2786C>T (p.Thr929Ile)
c.2783C>T (p.Thr928Ile)
c.2813C>T (p.Thr938Ile)
c.2810C>T (p.Thr937Ile)
n.217C>T
16g.56902439T>ACA495613330SLC12A3c.2787T>A (p.Thr929=)
c.2784T>A (p.Thr928=)
c.2814T>A (p.Thr938=)
c.2811T>A (p.Thr937=)
n.218T>A
16g.56902439T>CCA495613331SLC12A3c.2787T>C (p.Thr929=)
c.2784T>C (p.Thr928=)
c.2814T>C (p.Thr938=)
c.2811T>C (p.Thr937=)
n.218T>C
16g.56902439T>GCA495613332SLC12A3c.2787T>G (p.Thr929=)
c.2784T>G (p.Thr928=)
c.2814T>G (p.Thr938=)
c.2811T>G (p.Thr937=)
n.218T>G
16g.56902440G>ACA396001308SLC12A3c.2788G>A (p.Val930Ile)
c.2785G>A (p.Val929Ile)
c.2815G>A (p.Val939Ile)
c.2812G>A (p.Val938Ile)
n.219G>A
16g.56902440G>CCA396001307SLC12A3c.2788G>C (p.Val930Leu)
c.2785G>C (p.Val929Leu)
c.2815G>C (p.Val939Leu)
c.2812G>C (p.Val938Leu)
n.219G>C
16g.56902440G>TCA396001305SLC12A3c.2788G>T (p.Val930Phe)
c.2785G>T (p.Val929Phe)
c.2815G>T (p.Val939Phe)
c.2812G>T (p.Val938Phe)
n.219G>T
16g.56902441T>ACA396001311SLC12A3c.2789T>A (p.Val930Asp)
c.2786T>A (p.Val929Asp)
c.2816T>A (p.Val939Asp)
c.2813T>A (p.Val938Asp)
n.220T>A
16g.56902441T>CCA396001313SLC12A3c.2789T>C (p.Val930Ala)
c.2786T>C (p.Val929Ala)
c.2816T>C (p.Val939Ala)
c.2813T>C (p.Val938Ala)
n.220T>C
16g.56902441T>GCA396001314SLC12A3c.2789T>G (p.Val930Gly)
c.2786T>G (p.Val929Gly)
c.2816T>G (p.Val939Gly)
c.2813T>G (p.Val938Gly)
n.220T>G
16g.56902442C>ACA495613333SLC12A3c.2790C>A (p.Val930=)
c.2787C>A (p.Val929=)
c.2817C>A (p.Val939=)
c.2814C>A (p.Val938=)
n.221C>A
 ClinVar
16g.56902442C>GCA495613334SLC12A3c.2790C>G (p.Val930=)
c.2787C>G (p.Val929=)
c.2817C>G (p.Val939=)
c.2814C>G (p.Val938=)
n.221C>G
16g.56902442C>TCA495613335SLC12A3c.2790C>T (p.Val930=)
c.2787C>T (p.Val929=)
c.2817C>T (p.Val939=)
c.2814C>T (p.Val938=)
n.221C>T
16g.56902443A>CCA396001317SLC12A3c.2791A>C (p.Asn931His)
c.2788A>C (p.Asn930His)
c.2818A>C (p.Asn940His)
c.2815A>C (p.Asn939His)
n.222A>C
16g.56902443A>GCA396001319SLC12A3c.2791A>G (p.Asn931Asp)
c.2788A>G (p.Asn930Asp)
c.2818A>G (p.Asn940Asp)
c.2815A>G (p.Asn939Asp)
n.222A>G
16g.56902443A>TCA396001321SLC12A3c.2791A>T (p.Asn931Tyr)
c.2788A>T (p.Asn930Tyr)
c.2818A>T (p.Asn940Tyr)
c.2815A>T (p.Asn939Tyr)
n.222A>T
16g.56902444A>CCA396001323SLC12A3c.2792A>C (p.Asn931Thr)
c.2789A>C (p.Asn930Thr)
c.2819A>C (p.Asn940Thr)
c.2816A>C (p.Asn939Thr)
n.223A>C
16g.56902444A>GCA396001325SLC12A3c.2792A>G (p.Asn931Ser)
c.2789A>G (p.Asn930Ser)
c.2819A>G (p.Asn940Ser)
c.2816A>G (p.Asn939Ser)
n.223A>G
16g.56902444A>TCA396001327SLC12A3c.2792A>T (p.Asn931Ile)
c.2789A>T (p.Asn930Ile)
c.2819A>T (p.Asn940Ile)
c.2816A>T (p.Asn939Ile)
n.223A>T
16g.56902445C>ACA396001329SLC12A3c.2793C>A (p.Asn931Lys)
c.2790C>A (p.Asn930Lys)
c.2820C>A (p.Asn940Lys)
c.2817C>A (p.Asn939Lys)
n.224C>A
 COSMIC
16g.56902445C=CA2224364821SLC12A3c.2793C= (p.Asn931=)
c.2790C= (p.Asn930=)
c.2820C= (p.Asn940=)
c.2817C= (p.Asn939=)
n.224C=
16g.56902445C>GCA396001330SLC12A3c.2793C>G (p.Asn931Lys)
c.2790C>G (p.Asn930Lys)
c.2820C>G (p.Asn940Lys)
c.2817C>G (p.Asn939Lys)
n.224C>G
16g.56902445C>TCA8070059SLC12A3c.2793C>T (p.Asn931=)
c.2790C>T (p.Asn930=)
c.2820C>T (p.Asn940=)
c.2817C>T (p.Asn939=)
n.224C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56902446G>ACA396001335SLC12A3c.2794G>A (p.Glu932Lys)
c.2791G>A (p.Glu931Lys)
c.2821G>A (p.Glu941Lys)
c.2818G>A (p.Glu940Lys)
n.225G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.56902446G>CCA396001337SLC12A3c.2794G>C (p.Glu932Gln)
c.2791G>C (p.Glu931Gln)
c.2821G>C (p.Glu941Gln)
c.2818G>C (p.Glu940Gln)
n.225G>C
16g.56902446G=CA2224364822SLC12A3c.2794G= (p.Glu932=)
c.2791G= (p.Glu931=)
c.2821G= (p.Glu941=)
c.2818G= (p.Glu940=)
n.225G=
16g.56902446G>TCA396001334SLC12A3c.2794G>T (p.Glu932Ter)
c.2791G>T (p.Glu931Ter)
c.2821G>T (p.Glu941Ter)
c.2818G>T (p.Glu940Ter)
n.225G>T
 ClinVar dbSNP gnomAD v4
16g.56902447A>CCA396001340SLC12A3c.2795A>C (p.Glu932Ala)
c.2792A>C (p.Glu931Ala)
c.2822A>C (p.Glu941Ala)
c.2819A>C (p.Glu940Ala)
n.226A>C
16g.56902447A>GCA396001341SLC12A3c.2795A>G (p.Glu932Gly)
c.2792A>G (p.Glu931Gly)
c.2822A>G (p.Glu941Gly)
c.2819A>G (p.Glu940Gly)
n.226A>G
16g.56902447A>TCA396001342SLC12A3c.2795A>T (p.Glu932Val)
c.2792A>T (p.Glu931Val)
c.2822A>T (p.Glu941Val)
c.2819A>T (p.Glu940Val)
n.226A>T
16g.56902448G>ACA495613337SLC12A3c.2796G>A (p.Glu932=)
c.2793G>A (p.Glu931=)
c.2823G>A (p.Glu941=)
c.2820G>A (p.Glu940=)
n.227G>A
 gnomAD v4
16g.56902448G>CCA396001343SLC12A3c.2796G>C (p.Glu932Asp)
c.2793G>C (p.Glu931Asp)
c.2823G>C (p.Glu941Asp)
c.2820G>C (p.Glu940Asp)
n.227G>C
16g.56902448G>TCA396001344SLC12A3c.2796G>T (p.Glu932Asp)
c.2793G>T (p.Glu931Asp)
c.2823G>T (p.Glu941Asp)
c.2820G>T (p.Glu940Asp)
n.227G>T
16g.56902449A>CCA396001349SLC12A3c.2797A>C (p.Met933Leu)
c.2794A>C (p.Met932Leu)
c.2824A>C (p.Met942Leu)
c.2821A>C (p.Met941Leu)
n.228A>C
16g.56902449A>GCA396001347SLC12A3c.2797A>G (p.Met933Val)
c.2794A>G (p.Met932Val)
c.2824A>G (p.Met942Val)
c.2821A>G (p.Met941Val)
n.228A>G
16g.56902449A>TCA396001346SLC12A3c.2797A>T (p.Met933Leu)
c.2794A>T (p.Met932Leu)
c.2824A>T (p.Met942Leu)
c.2821A>T (p.Met941Leu)
n.228A>T
 gnomAD v4
16g.56902450T>ACA8070060SLC12A3c.2798T>A (p.Met933Lys)
c.2795T>A (p.Met932Lys)
c.2825T>A (p.Met942Lys)
c.2822T>A (p.Met941Lys)
n.229T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56902450T>CCA281519765SLC12A3c.2798T>C (p.Met933Thr)
c.2795T>C (p.Met932Thr)
c.2825T>C (p.Met942Thr)
c.2822T>C (p.Met941Thr)
n.229T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56902450T>GCA396001353SLC12A3c.2798T>G (p.Met933Arg)
c.2795T>G (p.Met932Arg)
c.2825T>G (p.Met942Arg)
c.2822T>G (p.Met941Arg)
n.229T>G
16g.56902450T=CA2224364823SLC12A3c.2798T= (p.Met933=)
c.2795T= (p.Met932=)
c.2825T= (p.Met942=)
c.2822T= (p.Met941=)
n.229T=
16g.56902451G>ACA396001356SLC12A3c.2799G>A (p.Met933Ile)
c.2796G>A (p.Met932Ile)
c.2826G>A (p.Met942Ile)
c.2823G>A (p.Met941Ile)
n.230G>A
16g.56902451G>CCA396001357SLC12A3c.2799G>C (p.Met933Ile)
c.2796G>C (p.Met932Ile)
c.2826G>C (p.Met942Ile)
c.2823G>C (p.Met941Ile)
n.230G>C
16g.56902451G>TCA396001359SLC12A3c.2799G>T (p.Met933Ile)
c.2796G>T (p.Met932Ile)
c.2826G>T (p.Met942Ile)
c.2823G>T (p.Met941Ile)
n.230G>T
16g.56902452_56902453dupCA2224364824SLC12A3c.2800_2801dup (p.Arg935GlyfsTer24)
c.2797_2798dup (p.Arg934GlyfsTer24)
c.2827_2828dup (p.Arg944GlyfsTer24)
c.2824_2825dup (p.Arg943GlyfsTer24)
n.231_232dup
 dbSNP
16g.56902451_56902455delinsGCGGCCA2224364825SLC12A3c.2799_2803delinsGCGGC (p.Met933=)
c.2796_2800delinsGCGGC (p.Met932=)
c.2826_2830delinsGCGGC (p.Met942=)
c.2823_2827delinsGCGGC (p.Met941=)
n.230_234delinsGCGGC
16g.56902452C>ACA495613339SLC12A3c.2800C>A (p.Arg934=)
c.2797C>A (p.Arg933=)
c.2827C>A (p.Arg943=)
c.2824C>A (p.Arg942=)
n.231C>A
16g.56902452C=CA2224364826SLC12A3c.2800C= (p.Arg934=)
c.2797C= (p.Arg933=)
c.2827C= (p.Arg943=)
c.2824C= (p.Arg942=)
n.231C=
16g.56902452C>GCA396001362SLC12A3c.2800C>G (p.Arg934Gly)
c.2797C>G (p.Arg933Gly)
c.2827C>G (p.Arg943Gly)
c.2824C>G (p.Arg942Gly)
n.231C>G
16g.56902452C>TCA8070062SLC12A3c.2800C>T (p.Arg934Trp)
c.2797C>T (p.Arg933Trp)
c.2827C>T (p.Arg943Trp)
c.2824C>T (p.Arg942Trp)
n.231C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56902452_56902455delCA8070061SLC12A3c.2800_2803del (p.Arg934GlyfsTer23)
c.2797_2800del (p.Arg933GlyfsTer23)
c.2827_2830del (p.Arg943GlyfsTer23)
c.2824_2827del (p.Arg942GlyfsTer23)
n.231_234del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56902453G>ACA8070063SLC12A3c.2801G>A (p.Arg934Gln)
c.2798G>A (p.Arg933Gln)
c.2828G>A (p.Arg943Gln)
c.2825G>A (p.Arg942Gln)
n.232G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56902453G>CCA396001366SLC12A3c.2801G>C (p.Arg934Pro)
c.2798G>C (p.Arg933Pro)
c.2828G>C (p.Arg943Pro)
c.2825G>C (p.Arg942Pro)
n.232G>C
16g.56902453G=CA2224364827SLC12A3c.2801G= (p.Arg934=)
c.2798G= (p.Arg933=)
c.2828G= (p.Arg943=)
c.2825G= (p.Arg942=)
n.232G=
16g.56902453G>TCA396001368SLC12A3c.2801G>T (p.Arg934Leu)
c.2798G>T (p.Arg933Leu)
c.2828G>T (p.Arg943Leu)
c.2825G>T (p.Arg942Leu)
n.232G>T
 gnomAD v4
16g.56902454G>ACA8070064SLC12A3c.2802G>A (p.Arg934=)
c.2799G>A (p.Arg933=)
c.2829G>A (p.Arg943=)
c.2826G>A (p.Arg942=)
n.233G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56902454G>CCA495613341SLC12A3c.2802G>C (p.Arg934=)
c.2799G>C (p.Arg933=)
c.2829G>C (p.Arg943=)
c.2826G>C (p.Arg942=)
n.233G>C
 ClinVar dbSNP
16g.56902454G=CA2224364828SLC12A3c.2802G= (p.Arg934=)
c.2799G= (p.Arg933=)
c.2829G= (p.Arg943=)
c.2826G= (p.Arg942=)
n.233G=
16g.56902454G>TCA495613342SLC12A3c.2802G>T (p.Arg934=)
c.2799G>T (p.Arg933=)
c.2829G>T (p.Arg943=)
c.2826G>T (p.Arg942=)
n.233G>T
16g.56902455C>ACA495613343SLC12A3c.2803C>A (p.Arg935=)
c.2800C>A (p.Arg934=)
c.2830C>A (p.Arg944=)
c.2827C>A (p.Arg943=)
n.234C>A
 ClinVar dbSNP gnomAD v4
16g.56902455C=CA2224364829SLC12A3c.2803C= (p.Arg935=)
c.2800C= (p.Arg934=)
c.2830C= (p.Arg944=)
c.2827C= (p.Arg943=)
n.234C=
16g.56902455C>GCA396001370SLC12A3c.2803C>G (p.Arg935Gly)
c.2800C>G (p.Arg934Gly)
c.2830C>G (p.Arg944Gly)
c.2827C>G (p.Arg943Gly)
n.234C>G
16g.56902455C>TCA8070065SLC12A3c.2803C>T (p.Arg935Trp)
c.2800C>T (p.Arg934Trp)
c.2830C>T (p.Arg944Trp)
c.2827C>T (p.Arg943Trp)
n.234C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56902456G>ACA8070066SLC12A3c.2804G>A (p.Arg935Gln)
c.2801G>A (p.Arg934Gln)
c.2831G>A (p.Arg944Gln)
c.2828G>A (p.Arg943Gln)
n.235G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56902456G>CCA396001374SLC12A3c.2804G>C (p.Arg935Pro)
c.2801G>C (p.Arg934Pro)
c.2831G>C (p.Arg944Pro)
c.2828G>C (p.Arg943Pro)
n.235G>C
16g.56902456G=CA2224364830SLC12A3c.2804G= (p.Arg935=)
c.2801G= (p.Arg934=)
c.2831G= (p.Arg944=)
c.2828G= (p.Arg943=)
n.235G=
16g.56902456G>TCA396001376SLC12A3c.2804G>T (p.Arg935Leu)
c.2801G>T (p.Arg934Leu)
c.2831G>T (p.Arg944Leu)
c.2828G>T (p.Arg943Leu)
n.235G>T
16g.56902457G>ACA495613345SLC12A3c.2805G>A (p.Arg935=)
c.2802G>A (p.Arg934=)
c.2832G>A (p.Arg944=)
c.2829G>A (p.Arg943=)
n.236G>A
 ClinVar
16g.56902457G>CCA495613346SLC12A3c.2805G>C (p.Arg935=)
c.2802G>C (p.Arg934=)
c.2832G>C (p.Arg944=)
c.2829G>C (p.Arg943=)
n.236G>C
16g.56902457G=CA2224364831SLC12A3c.2805G= (p.Arg935=)
c.2802G= (p.Arg934=)
c.2832G= (p.Arg944=)
c.2829G= (p.Arg943=)
n.236G=
16g.56902457G>TCA495613344SLC12A3c.2805G>T (p.Arg935=)
c.2802G>T (p.Arg934=)
c.2832G>T (p.Arg944=)
c.2829G>T (p.Arg943=)
n.236G>T
 dbSNP gnomAD v3 gnomAD v4
16g.56902457_56902458insCCTTTCTTCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAATCA8070067SLC12A3c.2805_2806insCCTTTCTTCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAAT (p.Asp936ProfsTer14)
c.2802_2803insCCTTTCTTCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAAT (p.Asp935ProfsTer14)
c.2832_2833insCCTTTCTTCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAAT (p.Asp945ProfsTer14)
c.2829_2830insCCTTTCTTCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAAT (p.Asp944ProfsTer14)
n.236_237insCCTTTCTTCCGCCCAGTCCCTTCGGCAGGTGAGGCTGAAT
 dbSNP ExAC
16g.56902458G>ACA396001379SLC12A3c.2806G>A (p.Asp936Asn)
c.2803G>A (p.Asp935Asn)
c.2833G>A (p.Asp945Asn)
c.2830G>A (p.Asp944Asn)
n.237G>A
16g.56902458G>CCA396001381SLC12A3c.2806G>C (p.Asp936His)
c.2803G>C (p.Asp935His)
c.2833G>C (p.Asp945His)
c.2830G>C (p.Asp944His)
n.237G>C
16g.56902458G=CA2224364832SLC12A3c.2806G= (p.Asp936=)
c.2803G= (p.Asp935=)
c.2833G= (p.Asp945=)
c.2830G= (p.Asp944=)
n.237G=
16g.56902458G>TCA396001383SLC12A3c.2806G>T (p.Asp936Tyr)
c.2803G>T (p.Asp935Tyr)
c.2833G>T (p.Asp945Tyr)
c.2830G>T (p.Asp944Tyr)
n.237G>T
 dbSNP
16g.56902459A>CCA396001386SLC12A3c.2807A>C (p.Asp936Ala)
c.2804A>C (p.Asp935Ala)
c.2834A>C (p.Asp945Ala)
c.2831A>C (p.Asp944Ala)
n.238A>C
16g.56902459A>GCA396001385SLC12A3c.2807A>G (p.Asp936Gly)
c.2804A>G (p.Asp935Gly)
c.2834A>G (p.Asp945Gly)
c.2831A>G (p.Asp944Gly)
n.238A>G
16g.56902459A>TCA396001384SLC12A3c.2807A>T (p.Asp936Val)
c.2804A>T (p.Asp935Val)
c.2834A>T (p.Asp945Val)
c.2831A>T (p.Asp944Val)
n.238A>T
16g.56902460C>ACA396001388SLC12A3c.2808C>A (p.Asp936Glu)
c.2805C>A (p.Asp935Glu)
c.2835C>A (p.Asp945Glu)
c.2832C>A (p.Asp944Glu)
n.239C>A
16g.56902460C>GCA396001390SLC12A3c.2808C>G (p.Asp936Glu)
c.2805C>G (p.Asp935Glu)
c.2835C>G (p.Asp945Glu)
c.2832C>G (p.Asp944Glu)
n.239C>G
16g.56902460C>TCA495613352SLC12A3c.2808C>T (p.Asp936=)
c.2805C>T (p.Asp935=)
c.2835C>T (p.Asp945=)
c.2832C>T (p.Asp944=)
n.239C>T
16g.56902461T>ACA396001392SLC12A3c.2809T>A (p.Cys937Ser)
c.2806T>A (p.Cys936Ser)
c.2836T>A (p.Cys946Ser)
c.2833T>A (p.Cys945Ser)
n.240T>A
16g.56902461T>CCA396001394SLC12A3c.2809T>C (p.Cys937Arg)
c.2806T>C (p.Cys936Arg)
c.2836T>C (p.Cys946Arg)
c.2833T>C (p.Cys945Arg)
n.240T>C
16g.56902461T>GCA396001397SLC12A3c.2809T>G (p.Cys937Gly)
c.2806T>G (p.Cys936Gly)
c.2836T>G (p.Cys946Gly)
c.2833T>G (p.Cys945Gly)
n.240T>G
16g.56902462G>ACA396001400SLC12A3c.2810G>A (p.Cys937Tyr)
c.2807G>A (p.Cys936Tyr)
c.2837G>A (p.Cys946Tyr)
c.2834G>A (p.Cys945Tyr)
n.241G>A
16g.56902462G>CCA396001402SLC12A3c.2810G>C (p.Cys937Ser)
c.2807G>C (p.Cys936Ser)
c.2837G>C (p.Cys946Ser)
c.2834G>C (p.Cys945Ser)
n.241G>C
16g.56902462G>TCA396001403SLC12A3c.2810G>T (p.Cys937Phe)
c.2807G>T (p.Cys936Phe)
c.2837G>T (p.Cys946Phe)
c.2834G>T (p.Cys945Phe)
n.241G>T
16g.56902462_56902463delinsGCCA2224364833SLC12A3c.2810_2811delinsGC (p.Cys937=)
c.2807_2808delinsGC (p.Cys936=)
c.2837_2838delinsGC (p.Cys946=)
c.2834_2835delinsGC (p.Cys945=)
n.241_242delinsGC
16g.56902463C>ACA396001407SLC12A3c.2811C>A (p.Cys937Ter)
c.2808C>A (p.Cys936Ter)
c.2838C>A (p.Cys946Ter)
c.2835C>A (p.Cys945Ter)
n.242C>A
 ClinVar gnomAD v4
16g.56902463C>GCA396001406SLC12A3c.2811C>G (p.Cys937Trp)
c.2808C>G (p.Cys936Trp)
c.2838C>G (p.Cys946Trp)
c.2835C>G (p.Cys945Trp)
n.242C>G
16g.56902463C>TCA495613356SLC12A3c.2811C>T (p.Cys937=)
c.2808C>T (p.Cys936=)
c.2838C>T (p.Cys946=)
c.2835C>T (p.Cys945=)
n.242C>T
16g.56902466delCA721949480SLC12A3c.2814del (p.Trp939GlyfsTer19)
c.2811del (p.Trp938GlyfsTer19)
c.2841del (p.Trp948GlyfsTer19)
c.2838del (p.Trp947GlyfsTer19)
n.245del
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.56902464C>ACA396001409SLC12A3c.2812C>A (p.Pro938Thr)
c.2809C>A (p.Pro937Thr)
c.2839C>A (p.Pro947Thr)
c.2836C>A (p.Pro946Thr)
n.243C>A
16g.56902464C=CA2224364834SLC12A3c.2812C= (p.Pro938=)
c.2809C= (p.Pro937=)
c.2839C= (p.Pro947=)
c.2836C= (p.Pro946=)
n.243C=
16g.56902464C>GCA396001411SLC12A3c.2812C>G (p.Pro938Ala)
c.2809C>G (p.Pro937Ala)
c.2839C>G (p.Pro947Ala)
c.2836C>G (p.Pro946Ala)
n.243C>G
16g.56902464C>TCA8070068SLC12A3c.2812C>T (p.Pro938Ser)
c.2809C>T (p.Pro937Ser)
c.2839C>T (p.Pro947Ser)
c.2836C>T (p.Pro946Ser)
n.243C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56902465C>ACA396001414SLC12A3c.2813C>A (p.Pro938His)
c.2810C>A (p.Pro937His)
c.2840C>A (p.Pro947His)
c.2837C>A (p.Pro946His)
n.244C>A
16g.56902465C=CA2224364835SLC12A3c.2813C= (p.Pro938=)
c.2810C= (p.Pro937=)
c.2840C= (p.Pro947=)
c.2837C= (p.Pro946=)
n.244C=
16g.56902465C>GCA396001415SLC12A3c.2813C>G (p.Pro938Arg)
c.2810C>G (p.Pro937Arg)
c.2840C>G (p.Pro947Arg)
c.2837C>G (p.Pro946Arg)
n.244C>G
16g.56902465C>TCA396001416SLC12A3c.2813C>T (p.Pro938Leu)
c.2810C>T (p.Pro937Leu)
c.2840C>T (p.Pro947Leu)
c.2837C>T (p.Pro946Leu)
n.244C>T
 dbSNP gnomAD v4
16g.56902466C>ACA495613361SLC12A3c.2814C>A (p.Pro938=)
c.2811C>A (p.Pro937=)
c.2841C>A (p.Pro947=)
c.2838C>A (p.Pro946=)
n.245C>A
16g.56902466C>GCA495613363SLC12A3c.2814C>G (p.Pro938=)
c.2811C>G (p.Pro937=)
c.2841C>G (p.Pro947=)
c.2838C>G (p.Pro946=)
n.245C>G
 ClinVar
16g.56902466C>TCA495613365SLC12A3c.2814C>T (p.Pro938=)
c.2811C>T (p.Pro937=)
c.2841C>T (p.Pro947=)
c.2838C>T (p.Pro946=)
n.245C>T
16g.56902467delCA2573152457SLC12A3c.2815del (p.Trp939GlyfsTer19)
c.2812del (p.Trp938GlyfsTer19)
c.2842del (p.Trp948GlyfsTer19)
c.2839del (p.Trp947GlyfsTer19)
n.246del
 ClinVar dbSNP gnomAD v4
16g.56902467T>ACA396001417SLC12A3c.2815T>A (p.Trp939Arg)
c.2812T>A (p.Trp938Arg)
c.2842T>A (p.Trp948Arg)
c.2839T>A (p.Trp947Arg)
n.246T>A
16g.56902467T>CCA396001420SLC12A3c.2815T>C (p.Trp939Arg)
c.2812T>C (p.Trp938Arg)
c.2842T>C (p.Trp948Arg)
c.2839T>C (p.Trp947Arg)
n.246T>C
 dbSNP gnomAD v2 gnomAD v4
16g.56902467T>GCA396001419SLC12A3c.2815T>G (p.Trp939Gly)
c.2812T>G (p.Trp938Gly)
c.2842T>G (p.Trp948Gly)
c.2839T>G (p.Trp947Gly)
n.246T>G
16g.56902467T=CA2224364836SLC12A3c.2815T= (p.Trp939=)
c.2812T= (p.Trp938=)
c.2842T= (p.Trp948=)
c.2839T= (p.Trp947=)
n.246T=
16g.56902468G>ACA396001422SLC12A3c.2816G>A (p.Trp939Ter)
c.2813G>A (p.Trp938Ter)
c.2843G>A (p.Trp948Ter)
c.2840G>A (p.Trp947Ter)
n.247G>A
16g.56902468G>CCA396001424SLC12A3c.2816G>C (p.Trp939Ser)
c.2813G>C (p.Trp938Ser)
c.2843G>C (p.Trp948Ser)
c.2840G>C (p.Trp947Ser)
n.247G>C
16g.56902468G>TCA396001425SLC12A3c.2816G>T (p.Trp939Leu)
c.2813G>T (p.Trp938Leu)
c.2843G>T (p.Trp948Leu)
c.2840G>T (p.Trp947Leu)
n.247G>T
16g.56902469G>ACA396001427SLC12A3c.2817G>A (p.Trp939Ter)
c.2814G>A (p.Trp938Ter)
c.2844G>A (p.Trp948Ter)
c.2841G>A (p.Trp947Ter)
n.248G>A
 ClinVar dbSNP gnomAD v4
16g.56902469G>CCA396001428SLC12A3c.2817G>C (p.Trp939Cys)
c.2814G>C (p.Trp938Cys)
c.2844G>C (p.Trp948Cys)
c.2841G>C (p.Trp947Cys)
n.248G>C
16g.56902469G=CA2224364837SLC12A3c.2817G= (p.Trp939=)
c.2814G= (p.Trp938=)
c.2844G= (p.Trp948=)
c.2841G= (p.Trp947=)
n.248G=
16g.56902469G>TCA8070069SLC12A3c.2817G>T (p.Trp939Cys)
c.2814G>T (p.Trp938Cys)
c.2844G>T (p.Trp948Cys)
c.2841G>T (p.Trp947Cys)
n.248G>T
 dbSNP ExAC gnomAD v2
16g.56902470A>CCA396001432SLC12A3c.2818A>C (p.Lys940Gln)
c.2815A>C (p.Lys939Gln)
c.2845A>C (p.Lys949Gln)
c.2842A>C (p.Lys948Gln)
n.249A>C
16g.56902470A>GCA396001433SLC12A3c.2818A>G (p.Lys940Glu)
c.2815A>G (p.Lys939Glu)
c.2845A>G (p.Lys949Glu)
c.2842A>G (p.Lys948Glu)
n.249A>G
16g.56902470A>TCA396001435SLC12A3c.2818A>T (p.Lys940Ter)
c.2815A>T (p.Lys939Ter)
c.2845A>T (p.Lys949Ter)
c.2842A>T (p.Lys948Ter)
n.249A>T
 ClinVar
16g.56902471A>CCA396001438SLC12A3c.2819A>C (p.Lys940Thr)
c.2816A>C (p.Lys939Thr)
c.2846A>C (p.Lys949Thr)
c.2843A>C (p.Lys948Thr)
n.250A>C
16g.56902471A>GCA396001439SLC12A3c.2819A>G (p.Lys940Arg)
c.2816A>G (p.Lys939Arg)
c.2846A>G (p.Lys949Arg)
c.2843A>G (p.Lys948Arg)
n.250A>G
16g.56902471A>TCA396001441SLC12A3c.2819A>T (p.Lys940Met)
c.2816A>T (p.Lys939Met)
c.2846A>T (p.Lys949Met)
c.2843A>T (p.Lys948Met)
n.250A>T
 gnomAD v4
16g.56902472_56902473delCA2695223516SLC12A3c.2820_2821del (p.Lys940AsnfsTer4)
c.2817_2818del (p.Lys939AsnfsTer4)
c.2847_2848del (p.Lys949AsnfsTer4)
c.2844_2845del (p.Lys948AsnfsTer4)
n.251_252del
16g.56902472G>ACA495613368SLC12A3c.2820G>A (p.Lys940=)
c.2817G>A (p.Lys939=)
c.2847G>A (p.Lys949=)
c.2844G>A (p.Lys948=)
n.251G>A
 ClinVar dbSNP gnomAD v4
16g.56902472G>CCA396001442SLC12A3c.2820G>C (p.Lys940Asn)
c.2817G>C (p.Lys939Asn)
c.2847G>C (p.Lys949Asn)
c.2844G>C (p.Lys948Asn)
n.251G>C
 COSMIC
16g.56902472G=CA2224364838SLC12A3c.2820G= (p.Lys940=)
c.2817G= (p.Lys939=)
c.2847G= (p.Lys949=)
c.2844G= (p.Lys948=)
n.251G=
16g.56902472G>TCA396001443SLC12A3c.2820G>T (p.Lys940Asn)
c.2817G>T (p.Lys939Asn)
c.2847G>T (p.Lys949Asn)
c.2844G>T (p.Lys948Asn)
n.251G>T
 dbSNP gnomAD v2 gnomAD v4
16g.56902473A>CCA396001445SLC12A3c.2821A>C (p.Ile941Leu)
c.2818A>C (p.Ile940Leu)
c.2848A>C (p.Ile950Leu)
c.2845A>C (p.Ile949Leu)
n.252A>C
16g.56902473A>GCA396001446SLC12A3c.2821A>G (p.Ile941Val)
c.2818A>G (p.Ile940Val)
c.2848A>G (p.Ile950Val)
c.2845A>G (p.Ile949Val)
n.252A>G
16g.56902473A>TCA396001448SLC12A3c.2821A>T (p.Ile941Phe)
c.2818A>T (p.Ile940Phe)
c.2848A>T (p.Ile950Phe)
c.2845A>T (p.Ile949Phe)
n.252A>T
16g.56902474T>ACA396001450SLC12A3c.2822T>A (p.Ile941Asn)
c.2819T>A (p.Ile940Asn)
c.2849T>A (p.Ile950Asn)
c.2846T>A (p.Ile949Asn)
n.253T>A
16g.56902474T>CCA396001452SLC12A3c.2822T>C (p.Ile941Thr)
c.2819T>C (p.Ile940Thr)
c.2849T>C (p.Ile950Thr)
c.2846T>C (p.Ile949Thr)
n.253T>C
16g.56902474T>GCA396001454SLC12A3c.2822T>G (p.Ile941Ser)
c.2819T>G (p.Ile940Ser)
c.2849T>G (p.Ile950Ser)
c.2846T>G (p.Ile949Ser)
n.253T>G
16g.56902475C>ACA495613371SLC12A3c.2823C>A (p.Ile941=)
c.2820C>A (p.Ile940=)
c.2850C>A (p.Ile950=)
c.2847C>A (p.Ile949=)
n.254C>A
16g.56902475C>GCA396001455SLC12A3c.2823C>G (p.Ile941Met)
c.2820C>G (p.Ile940Met)
c.2850C>G (p.Ile950Met)
c.2847C>G (p.Ile949Met)
n.254C>G
16g.56902475C>TCA495613372SLC12A3c.2823C>T (p.Ile941=)
c.2820C>T (p.Ile940=)
c.2850C>T (p.Ile950=)
c.2847C>T (p.Ile949=)
n.254C>T
16g.56902476T>ACA396001458SLC12A3c.2824T>A (p.Ser942Thr)
c.2821T>A (p.Ser941Thr)
c.2851T>A (p.Ser951Thr)
c.2848T>A (p.Ser950Thr)
n.255T>A
16g.56902476T>CCA396001459SLC12A3c.2824T>C (p.Ser942Pro)
c.2821T>C (p.Ser941Pro)
c.2851T>C (p.Ser951Pro)
c.2848T>C (p.Ser950Pro)
n.255T>C
16g.56902476T>GCA396001460SLC12A3c.2824T>G (p.Ser942Ala)
c.2821T>G (p.Ser941Ala)
c.2851T>G (p.Ser951Ala)
c.2848T>G (p.Ser950Ala)
n.255T>G
16g.56902477C>ACA396001462SLC12A3c.2825C>A (p.Ser942Ter)
c.2822C>A (p.Ser941Ter)
c.2852C>A (p.Ser951Ter)
c.2849C>A (p.Ser950Ter)
n.256C>A
 gnomAD v4
16g.56902477C>GCA396001464SLC12A3c.2825C>G (p.Ser942Ter)
c.2822C>G (p.Ser941Ter)
c.2852C>G (p.Ser951Ter)
c.2849C>G (p.Ser950Ter)
n.256C>G
16g.56902477C>TCA396001465SLC12A3c.2825C>T (p.Ser942Leu)
c.2822C>T (p.Ser941Leu)
c.2852C>T (p.Ser951Leu)
c.2849C>T (p.Ser950Leu)
n.256C>T
16g.56902478A>CCA495613375SLC12A3c.2826A>C (p.Ser942=)
c.2823A>C (p.Ser941=)
c.2853A>C (p.Ser951=)
c.2850A>C (p.Ser950=)
n.257A>C
 gnomAD v4
16g.56902478A>GCA495613377SLC12A3c.2826A>G (p.Ser942=)
c.2823A>G (p.Ser941=)
c.2853A>G (p.Ser951=)
c.2850A>G (p.Ser950=)
n.257A>G
16g.56902478A>TCA495613376SLC12A3c.2826A>T (p.Ser942=)
c.2823A>T (p.Ser941=)
c.2853A>T (p.Ser951=)
c.2850A>T (p.Ser950=)
n.257A>T
16g.56902479G>ACA396001468SLC12A3c.2827G>A (p.Asp943Asn)
c.2824G>A (p.Asp942Asn)
c.2854G>A (p.Asp952Asn)
c.2851G>A (p.Asp951Asn)
n.258G>A
 gnomAD v4
16g.56902479G>CCA396001470SLC12A3c.2827G>C (p.Asp943His)
c.2824G>C (p.Asp942His)
c.2854G>C (p.Asp952His)
c.2851G>C (p.Asp951His)
n.258G>C
 dbSNP
16g.56902479G=CA2224364839SLC12A3c.2827G= (p.Asp943=)
c.2824G= (p.Asp942=)
c.2854G= (p.Asp952=)
c.2851G= (p.Asp951=)
n.258G=
16g.56902479G>TCA396001466SLC12A3c.2827G>T (p.Asp943Tyr)
c.2824G>T (p.Asp942Tyr)
c.2854G>T (p.Asp952Tyr)
c.2851G>T (p.Asp951Tyr)
n.258G>T
16g.56902480A>CCA396001472SLC12A3c.2828A>C (p.Asp943Ala)
c.2825A>C (p.Asp942Ala)
c.2855A>C (p.Asp952Ala)
c.2852A>C (p.Asp951Ala)
n.259A>C
16g.56902480A>GCA396001474SLC12A3c.2828A>G (p.Asp943Gly)
c.2825A>G (p.Asp942Gly)
c.2855A>G (p.Asp952Gly)
c.2852A>G (p.Asp951Gly)
n.259A>G
16g.56902480A>TCA396001475SLC12A3c.2828A>T (p.Asp943Val)
c.2825A>T (p.Asp942Val)
c.2855A>T (p.Asp952Val)
c.2852A>T (p.Asp951Val)
n.259A>T
16g.56902481T>ACA396001477SLC12A3c.2829T>A (p.Asp943Glu)
c.2826T>A (p.Asp942Glu)
c.2856T>A (p.Asp952Glu)
c.2853T>A (p.Asp951Glu)
n.260T>A
16g.56902481T>CCA495613381SLC12A3c.2829T>C (p.Asp943=)
c.2826T>C (p.Asp942=)
c.2856T>C (p.Asp952=)
c.2853T>C (p.Asp951=)
n.260T>C
16g.56902481T>GCA396001478SLC12A3c.2829T>G (p.Asp943Glu)
c.2826T>G (p.Asp942Glu)
c.2856T>G (p.Asp952Glu)
c.2853T>G (p.Asp951Glu)
n.260T>G
 gnomAD v3 gnomAD v4
16g.56902482G>ACA8070070SLC12A3c.2830G>A (p.Glu944Lys)
c.2827G>A (p.Glu943Lys)
c.2857G>A (p.Glu953Lys)
c.2854G>A (p.Glu952Lys)
n.261G>A
 dbSNP ExAC gnomAD v2
16g.56902482G>CCA396001479SLC12A3c.2830G>C (p.Glu944Gln)
c.2827G>C (p.Glu943Gln)
c.2857G>C (p.Glu953Gln)
c.2854G>C (p.Glu952Gln)
n.261G>C
16g.56902482G=CA2224364840SLC12A3c.2830G= (p.Glu944=)
c.2827G= (p.Glu943=)
c.2857G= (p.Glu953=)
c.2854G= (p.Glu952=)
n.261G=
16g.56902482G>TCA396001481SLC12A3c.2830G>T (p.Glu944Ter)
c.2827G>T (p.Glu943Ter)
c.2857G>T (p.Glu953Ter)
c.2854G>T (p.Glu952Ter)
n.261G>T
16g.56902485_56902487delCA2633375664SLC12A3c.2833_2835del (p.Glu945del)
c.2830_2832del (p.Glu944del)
c.2860_2862del (p.Glu954del)
c.2857_2859del (p.Glu953del)
n.264_266del
 ClinVar gnomAD v4
16g.56902483A>CCA396001484SLC12A3c.2831A>C (p.Glu944Ala)
c.2828A>C (p.Glu943Ala)
c.2858A>C (p.Glu953Ala)
c.2855A>C (p.Glu952Ala)
n.262A>C
16g.56902483A>GCA396001486SLC12A3c.2831A>G (p.Glu944Gly)
c.2828A>G (p.Glu943Gly)
c.2858A>G (p.Glu953Gly)
c.2855A>G (p.Glu952Gly)
n.262A>G
16g.56902483A>TCA396001487SLC12A3c.2831A>T (p.Glu944Val)
c.2828A>T (p.Glu943Val)
c.2858A>T (p.Glu953Val)
c.2855A>T (p.Glu952Val)
n.262A>T
16g.56902484G>ACA495613384SLC12A3c.2832G>A (p.Glu944=)
c.2829G>A (p.Glu943=)
c.2859G>A (p.Glu953=)
c.2856G>A (p.Glu952=)
n.263G>A
 dbSNP gnomAD v2 gnomAD v4
16g.56902484G>CCA396001490SLC12A3c.2832G>C (p.Glu944Asp)
c.2829G>C (p.Glu943Asp)
c.2859G>C (p.Glu953Asp)
c.2856G>C (p.Glu952Asp)
n.263G>C
16g.56902484G=CA2224364841SLC12A3c.2832G= (p.Glu944=)
c.2829G= (p.Glu943=)
c.2859G= (p.Glu953=)
c.2856G= (p.Glu952=)
n.263G=
16g.56902484G>TCA396001492SLC12A3c.2832G>T (p.Glu944Asp)
c.2829G>T (p.Glu943Asp)
c.2859G>T (p.Glu953Asp)
c.2856G>T (p.Glu952Asp)
n.263G>T
16g.56902485G>ACA396001494SLC12A3c.2833G>A (p.Glu945Lys)
c.2830G>A (p.Glu944Lys)
c.2860G>A (p.Glu954Lys)
c.2857G>A (p.Glu953Lys)
n.264G>A
 dbSNP COSMIC
16g.56902485G>CCA396001497SLC12A3c.2833G>C (p.Glu945Gln)
c.2830G>C (p.Glu944Gln)
c.2860G>C (p.Glu954Gln)
c.2857G>C (p.Glu953Gln)
n.264G>C
16g.56902485G=CA2224364842SLC12A3c.2833G= (p.Glu945=)
c.2830G= (p.Glu944=)
c.2860G= (p.Glu954=)
c.2857G= (p.Glu953=)
n.264G=
16g.56902485G>TCA396001496SLC12A3c.2833G>T (p.Glu945Ter)
c.2830G>T (p.Glu944Ter)
c.2860G>T (p.Glu954Ter)
c.2857G>T (p.Glu953Ter)
n.264G>T
 dbSNP gnomAD v4
16g.56902486A=CA2224364843SLC12A3c.2834A= (p.Glu945=)
c.2831A= (p.Glu944=)
c.2861A= (p.Glu954=)
c.2858A= (p.Glu953=)
n.265A=
16g.56902486A>CCA396001498SLC12A3c.2834A>C (p.Glu945Ala)
c.2831A>C (p.Glu944Ala)
c.2861A>C (p.Glu954Ala)
c.2858A>C (p.Glu953Ala)
n.265A>C
16g.56902486A>GCA396001501SLC12A3c.2834A>G (p.Glu945Gly)
c.2831A>G (p.Glu944Gly)
c.2861A>G (p.Glu954Gly)
c.2858A>G (p.Glu953Gly)
n.265A>G
 dbSNP gnomAD v4
16g.56902486A>TCA396001500SLC12A3c.2834A>T (p.Glu945Val)
c.2831A>T (p.Glu944Val)
c.2861A>T (p.Glu954Val)
c.2858A>T (p.Glu953Val)
n.265A>T
 COSMIC
16g.56902487G>ACA495613388SLC12A3c.2835G>A (p.Glu945=)
c.2832G>A (p.Glu944=)
c.2862G>A (p.Glu954=)
c.2859G>A (p.Glu953=)
n.266G>A
 ClinVar
16g.56902487G>CCA396001503SLC12A3c.2835G>C (p.Glu945Asp)
c.2832G>C (p.Glu944Asp)
c.2862G>C (p.Glu954Asp)
c.2859G>C (p.Glu953Asp)
n.266G>C
16g.56902487G>TCA396001505SLC12A3c.2835G>T (p.Glu945Asp)
c.2832G>T (p.Glu944Asp)
c.2862G>T (p.Glu954Asp)
c.2859G>T (p.Glu953Asp)
n.266G>T
 gnomAD v4
16g.56902488A>CCA396001506SLC12A3c.2836A>C (p.Ile946Leu)
c.2833A>C (p.Ile945Leu)
c.2863A>C (p.Ile955Leu)
c.2860A>C (p.Ile954Leu)
n.267A>C
16g.56902488A>GCA396001508SLC12A3c.2836A>G (p.Ile946Val)
c.2833A>G (p.Ile945Val)
c.2863A>G (p.Ile955Val)
c.2860A>G (p.Ile954Val)
n.267A>G
16g.56902488A>TCA396001510SLC12A3c.2836A>T (p.Ile946Phe)
c.2833A>T (p.Ile945Phe)
c.2863A>T (p.Ile955Phe)
c.2860A>T (p.Ile954Phe)
n.267A>T
16g.56902488_56902492delCA2633375668SLC12A3c.2836_2840del (p.Ile946GlufsTer14)
c.2833_2837del (p.Ile945GlufsTer14)
c.2863_2867del (p.Ile955GlufsTer14)
c.2860_2864del (p.Ile954GlufsTer14)
n.267_271del
 gnomAD v4
16g.56902489T>ACA396001512SLC12A3c.2837T>A (p.Ile946Asn)
c.2834T>A (p.Ile945Asn)
c.2864T>A (p.Ile955Asn)
c.2861T>A (p.Ile954Asn)
n.268T>A
16g.56902489T>CCA396001513SLC12A3c.2837T>C (p.Ile946Thr)
c.2834T>C (p.Ile945Thr)
c.2864T>C (p.Ile955Thr)
c.2861T>C (p.Ile954Thr)
n.268T>C
 dbSNP
16g.56902489T>GCA281519828SLC12A3c.2837T>G (p.Ile946Ser)
c.2834T>G (p.Ile945Ser)
c.2864T>G (p.Ile955Ser)
c.2861T>G (p.Ile954Ser)
n.268T>G
 dbSNP gnomAD v4
16g.56902489T=CA2224364844SLC12A3c.2837T= (p.Ile946=)
c.2834T= (p.Ile945=)
c.2864T= (p.Ile955=)
c.2861T= (p.Ile954=)
n.268T=
16g.56902490T>ACA495613390SLC12A3c.2838T>A (p.Ile946=)
c.2835T>A (p.Ile945=)
c.2865T>A (p.Ile955=)
c.2862T>A (p.Ile954=)
n.269T>A
 dbSNP
16g.56902490T>CCA495613391SLC12A3c.2838T>C (p.Ile946=)
c.2835T>C (p.Ile945=)
c.2865T>C (p.Ile955=)
c.2862T>C (p.Ile954=)
n.269T>C
16g.56902490T>GCA396001516SLC12A3c.2838T>G (p.Ile946Met)
c.2835T>G (p.Ile945Met)
c.2865T>G (p.Ile955Met)
c.2862T>G (p.Ile954Met)
n.269T>G
 gnomAD v3 gnomAD v4
16g.56902490T=CA2224364845SLC12A3c.2838T= (p.Ile946=)
c.2835T= (p.Ile945=)
c.2865T= (p.Ile955=)
c.2862T= (p.Ile954=)
n.269T=
16g.56902491A>CCA396001518SLC12A3c.2839A>C (p.Thr947Pro)
c.2836A>C (p.Thr946Pro)
c.2866A>C (p.Thr956Pro)
c.2863A>C (p.Thr955Pro)
n.270A>C
16g.56902491A>GCA396001520SLC12A3c.2839A>G (p.Thr947Ala)
c.2836A>G (p.Thr946Ala)
c.2866A>G (p.Thr956Ala)
c.2863A>G (p.Thr955Ala)
n.270A>G
16g.56902491A>TCA396001522SLC12A3c.2839A>T (p.Thr947Ser)
c.2836A>T (p.Thr946Ser)
c.2866A>T (p.Thr956Ser)
c.2863A>T (p.Thr955Ser)
n.270A>T
16g.56902492C>ACA396001524SLC12A3c.2840C>A (p.Thr947Lys)
c.2837C>A (p.Thr946Lys)
c.2867C>A (p.Thr956Lys)
c.2864C>A (p.Thr955Lys)
n.271C>A
 gnomAD v4
16g.56902492C=CA2224364846SLC12A3c.2840C= (p.Thr947=)
c.2837C= (p.Thr946=)
c.2867C= (p.Thr956=)
c.2864C= (p.Thr955=)
n.271C=
16g.56902492C>GCA396001527SLC12A3c.2840C>G (p.Thr947Arg)
c.2837C>G (p.Thr946Arg)
c.2867C>G (p.Thr956Arg)
c.2864C>G (p.Thr955Arg)
n.271C>G
16g.56902492C>TCA8070071SLC12A3c.2840C>T (p.Thr947Met)
c.2837C>T (p.Thr946Met)
c.2867C>T (p.Thr956Met)
c.2864C>T (p.Thr955Met)
n.271C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56902493G>ACA8070072SLC12A3c.2841G>A (p.Thr947=)
c.2838G>A (p.Thr946=)
c.2868G>A (p.Thr956=)
c.2865G>A (p.Thr955=)
n.272G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56902493G>CCA8070073SLC12A3c.2841G>C (p.Thr947=)
c.2838G>C (p.Thr946=)
c.2868G>C (p.Thr956=)
c.2865G>C (p.Thr955=)
n.272G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56902493G=CA2224364847SLC12A3c.2841G= (p.Thr947=)
c.2838G= (p.Thr946=)
c.2868G= (p.Thr956=)
c.2865G= (p.Thr955=)
n.272G=
16g.56902493G>TCA495613395SLC12A3c.2841G>T (p.Thr947=)
c.2838G>T (p.Thr946=)
c.2868G>T (p.Thr956=)
c.2865G>T (p.Thr955=)
n.272G>T
 gnomAD v4
16g.56902494A=CA2224364848SLC12A3c.2842A= (p.Lys948=)
c.2839A= (p.Lys947=)
c.2869A= (p.Lys957=)
c.2866A= (p.Lys956=)
n.273A=
16g.56902494A>CCA396001532SLC12A3c.2842A>C (p.Lys948Gln)
c.2839A>C (p.Lys947Gln)
c.2869A>C (p.Lys957Gln)
c.2866A>C (p.Lys956Gln)
n.273A>C
16g.56902494A>GCA396001533SLC12A3c.2842A>G (p.Lys948Glu)
c.2839A>G (p.Lys947Glu)
c.2869A>G (p.Lys957Glu)
c.2866A>G (p.Lys956Glu)
n.273A>G
16g.56902494A>TCA396001534SLC12A3c.2842A>T (p.Lys948Ter)
c.2839A>T (p.Lys947Ter)
c.2869A>T (p.Lys957Ter)
c.2866A>T (p.Lys956Ter)
n.273A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.56902494_56902517delCA2633375672SLC12A3c.2842_2856+9del
c.2839_2853+9del
c.2869_2883+9del
c.2866_2880+9del
n.273_287+9del
 gnomAD v4
16g.56902495A>CCA396001536SLC12A3c.2843A>C (p.Lys948Thr)
c.2840A>C (p.Lys947Thr)
c.2870A>C (p.Lys957Thr)
c.2867A>C (p.Lys956Thr)
n.274A>C
16g.56902495A>GCA396001538SLC12A3c.2843A>G (p.Lys948Arg)
c.2840A>G (p.Lys947Arg)
c.2870A>G (p.Lys957Arg)
c.2867A>G (p.Lys956Arg)
n.274A>G
16g.56902495A>TCA396001540SLC12A3c.2843A>T (p.Lys948Met)
c.2840A>T (p.Lys947Met)
c.2870A>T (p.Lys957Met)
c.2867A>T (p.Lys956Met)
n.274A>T
16g.56902496G>ACA495613397SLC12A3c.2844G>A (p.Lys948=)
c.2841G>A (p.Lys947=)
c.2871G>A (p.Lys957=)
c.2868G>A (p.Lys956=)
n.275G>A
 gnomAD v4
16g.56902496G>CCA396001542SLC12A3c.2844G>C (p.Lys948Asn)
c.2841G>C (p.Lys947Asn)
c.2871G>C (p.Lys957Asn)
c.2868G>C (p.Lys956Asn)
n.275G>C
16g.56902496G>TCA396001543SLC12A3c.2844G>T (p.Lys948Asn)
c.2841G>T (p.Lys947Asn)
c.2871G>T (p.Lys957Asn)
c.2868G>T (p.Lys956Asn)
n.275G>T
 gnomAD v4
16g.56902497A>CCA396001546SLC12A3c.2845A>C (p.Asn949His)
c.2842A>C (p.Asn948His)
c.2872A>C (p.Asn958His)
c.2869A>C (p.Asn957His)
n.276A>C
16g.56902497A>GCA396001548SLC12A3c.2845A>G (p.Asn949Asp)
c.2842A>G (p.Asn948Asp)
c.2872A>G (p.Asn958Asp)
c.2869A>G (p.Asn957Asp)
n.276A>G
16g.56902497A>TCA396001545SLC12A3c.2845A>T (p.Asn949Tyr)
c.2842A>T (p.Asn948Tyr)
c.2872A>T (p.Asn958Tyr)
c.2869A>T (p.Asn957Tyr)
n.276A>T
16g.56902498A>CCA396001550SLC12A3c.2846A>C (p.Asn949Thr)
c.2843A>C (p.Asn948Thr)
c.2873A>C (p.Asn958Thr)
c.2870A>C (p.Asn957Thr)
n.277A>C
 gnomAD v4
16g.56902498A>GCA396001551SLC12A3c.2846A>G (p.Asn949Ser)
c.2843A>G (p.Asn948Ser)
c.2873A>G (p.Asn958Ser)
c.2870A>G (p.Asn957Ser)
n.277A>G
16g.56902498A>TCA396001552SLC12A3c.2846A>T (p.Asn949Ile)
c.2843A>T (p.Asn948Ile)
c.2873A>T (p.Asn958Ile)
c.2870A>T (p.Asn957Ile)
n.277A>T
16g.56902499C>ACA396001553SLC12A3c.2847C>A (p.Asn949Lys)
c.2844C>A (p.Asn948Lys)
c.2874C>A (p.Asn958Lys)
c.2871C>A (p.Asn957Lys)
n.278C>A
 gnomAD v4
16g.56902499C=CA2224364850SLC12A3c.2847C= (p.Asn949=)
c.2844C= (p.Asn948=)
c.2874C= (p.Asn958=)
c.2871C= (p.Asn957=)
n.278C=
16g.56902499C>GCA396001555SLC12A3c.2847C>G (p.Asn949Lys)
c.2844C>G (p.Asn948Lys)
c.2874C>G (p.Asn958Lys)
c.2871C>G (p.Asn957Lys)
n.278C>G
 dbSNP
16g.56902499C>TCA495613400SLC12A3c.2847C>T (p.Asn949=)
c.2844C>T (p.Asn948=)
c.2874C>T (p.Asn958=)
c.2871C>T (p.Asn957=)
n.278C>T
16g.56902499_56902501delinsCAGCA2224364849SLC12A3c.2847_2849delinsCAG (p.Asn949=)
c.2844_2846delinsCAG (p.Asn948=)
c.2874_2876delinsCAG (p.Asn958=)
c.2871_2873delinsCAG (p.Asn957=)
n.278_280delinsCAG
16g.56902500A>CCA495613402SLC12A3c.2848A>C (p.Arg950=)
c.2845A>C (p.Arg949=)
c.2875A>C (p.Arg959=)
c.2872A>C (p.Arg958=)
n.279A>C
16g.56902500A>GCA396001557SLC12A3c.2848A>G (p.Arg950Gly)
c.2845A>G (p.Arg949Gly)
c.2875A>G (p.Arg959Gly)
c.2872A>G (p.Arg958Gly)
n.279A>G
 gnomAD v4
16g.56902500A>TCA396001559SLC12A3c.2848A>T (p.Arg950Ter)
c.2845A>T (p.Arg949Ter)
c.2875A>T (p.Arg959Ter)
c.2872A>T (p.Arg958Ter)
n.279A>T
 gnomAD v4
16g.56902502_56902503delCA8070074SLC12A3c.2850_2851del (p.Arg950SerfsTer11)
c.2847_2848del (p.Arg949SerfsTer11)
c.2877_2878del (p.Arg959SerfsTer11)
c.2874_2875del (p.Arg958SerfsTer11)
n.281_282del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56902501G>ACA396001562SLC12A3c.2849G>A (p.Arg950Lys)
c.2846G>A (p.Arg949Lys)
c.2876G>A (p.Arg959Lys)
c.2873G>A (p.Arg958Lys)
n.280G>A
16g.56902501G>CCA396001563SLC12A3c.2849G>C (p.Arg950Thr)
c.2846G>C (p.Arg949Thr)
c.2876G>C (p.Arg959Thr)
c.2873G>C (p.Arg958Thr)
n.280G>C
 gnomAD v4
16g.56902501G>TCA396001565SLC12A3c.2849G>T (p.Arg950Ile)
c.2846G>T (p.Arg949Ile)
c.2876G>T (p.Arg959Ile)
c.2873G>T (p.Arg958Ile)
n.280G>T
 gnomAD v4
16g.56902502A=CA2224364851SLC12A3c.2850A= (p.Arg950=)
c.2847A= (p.Arg949=)
c.2877A= (p.Arg959=)
c.2874A= (p.Arg958=)
n.281A=
16g.56902502A>CCA8070075SLC12A3c.2850A>C (p.Arg950Ser)
c.2847A>C (p.Arg949Ser)
c.2877A>C (p.Arg959Ser)
c.2874A>C (p.Arg958Ser)
n.281A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56902502A>GCA495613404SLC12A3c.2850A>G (p.Arg950=)
c.2847A>G (p.Arg949=)
c.2877A>G (p.Arg959=)
c.2874A>G (p.Arg958=)
n.281A>G
 gnomAD v3 gnomAD v4
16g.56902502A>TCA396001572SLC12A3c.2850A>T (p.Arg950Ser)
c.2847A>T (p.Arg949Ser)
c.2877A>T (p.Arg959Ser)
c.2874A>T (p.Arg958Ser)
n.281A>T
 gnomAD v4
16g.56902503G>ACA396001577SLC12A3c.2851G>A (p.Val951Ile)
c.2848G>A (p.Val950Ile)
c.2878G>A (p.Val960Ile)
c.2875G>A (p.Val959Ile)
n.282G>A
16g.56902503G>CCA396001576SLC12A3c.2851G>C (p.Val951Leu)
c.2848G>C (p.Val950Leu)
c.2878G>C (p.Val960Leu)
c.2875G>C (p.Val959Leu)
n.282G>C
16g.56902503G=CA2224364852SLC12A3c.2851G= (p.Val951=)
c.2848G= (p.Val950=)
c.2878G= (p.Val960=)
c.2875G= (p.Val959=)
n.282G=
16g.56902503G>TCA396001574SLC12A3c.2851G>T (p.Val951Phe)
c.2848G>T (p.Val950Phe)
c.2878G>T (p.Val960Phe)
c.2875G>T (p.Val959Phe)
n.282G>T
 gnomAD v4
16g.56902503_56902504insAGGGGTGCACCCTCCA8070076SLC12A3c.2851_2852insAGGGGTGCACCCTC (p.Val951GlufsTer12)
c.2848_2849insAGGGGTGCACCCTC (p.Val950GlufsTer12)
c.2878_2879insAGGGGTGCACCCTC (p.Val960GlufsTer12)
c.2875_2876insAGGGGTGCACCCTC (p.Val959GlufsTer12)
n.282_283insAGGGGTGCACCCTC
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56902504T>ACA396001580SLC12A3c.2852T>A (p.Val951Asp)
c.2849T>A (p.Val950Asp)
c.2879T>A (p.Val960Asp)
c.2876T>A (p.Val959Asp)
n.283T>A
 gnomAD v3 gnomAD v4
16g.56902504T>CCA396001582SLC12A3c.2852T>C (p.Val951Ala)
c.2849T>C (p.Val950Ala)
c.2879T>C (p.Val960Ala)
c.2876T>C (p.Val959Ala)
n.283T>C
 gnomAD v3 gnomAD v4
16g.56902504T>GCA396001583SLC12A3c.2852T>G (p.Val951Gly)
c.2849T>G (p.Val950Gly)
c.2879T>G (p.Val960Gly)
c.2876T>G (p.Val959Gly)
n.283T>G
 gnomAD v3 gnomAD v4
16g.56902504_56902505delCA2633375678SLC12A3c.2852_2853del (p.Val951GlufsTer10)
c.2849_2850del (p.Val950GlufsTer10)
c.2879_2880del (p.Val960GlufsTer10)
c.2876_2877del (p.Val959GlufsTer10)
n.283_284del
 gnomAD v4
16g.56902504_56902506delCA2633375677SLC12A3c.2852_2854del (p.Val951_Lys952delinsGlu)
c.2849_2851del (p.Val950_Lys951delinsGlu)
c.2879_2881del (p.Val960_Lys961delinsGlu)
c.2876_2878del (p.Val959_Lys960delinsGlu)
n.283_285del
 gnomAD v4
16g.56902505C>ACA495613408SLC12A3c.2853C>A (p.Val951=)
c.2850C>A (p.Val950=)
c.2880C>A (p.Val960=)
c.2877C>A (p.Val959=)
n.284C>A
 gnomAD v3 gnomAD v4
16g.56902505C>GCA495613409SLC12A3c.2853C>G (p.Val951=)
c.2850C>G (p.Val950=)
c.2880C>G (p.Val960=)
c.2877C>G (p.Val959=)
n.284C>G
 gnomAD v3 gnomAD v4
16g.56902505C>TCA495613410SLC12A3c.2853C>T (p.Val951=)
c.2850C>T (p.Val950=)
c.2880C>T (p.Val960=)
c.2877C>T (p.Val959=)
n.284C>T
16g.56902506A>CCA396001584SLC12A3c.2854A>C (p.Lys952Gln)
c.2851A>C (p.Lys951Gln)
c.2881A>C (p.Lys961Gln)
c.2878A>C (p.Lys960Gln)
n.285A>C
 gnomAD v4
16g.56902506A>GCA396001586SLC12A3c.2854A>G (p.Lys952Glu)
c.2851A>G (p.Lys951Glu)
c.2881A>G (p.Lys961Glu)
c.2878A>G (p.Lys960Glu)
n.285A>G
 gnomAD v3 gnomAD v4
16g.56902506A>TCA396001587SLC12A3c.2854A>T (p.Lys952Ter)
c.2851A>T (p.Lys951Ter)
c.2881A>T (p.Lys961Ter)
c.2878A>T (p.Lys960Ter)
n.285A>T
 dbSNP gnomAD v3 gnomAD v4
16g.56902507delCA2633375680SLC12A3c.2855del (p.Lys952SerfsTer6)
c.2852del (p.Lys951SerfsTer6)
c.2882del (p.Lys961SerfsTer6)
c.2879del (p.Lys960SerfsTer6)
n.286del
 gnomAD v4
16g.56902507A=CA2224364853SLC12A3c.2855A= (p.Lys952=)
c.2852A= (p.Lys951=)
c.2882A= (p.Lys961=)
c.2879A= (p.Lys960=)
n.286A=
16g.56902507A>CCA396001589SLC12A3c.2855A>C (p.Lys952Thr)
c.2852A>C (p.Lys951Thr)
c.2882A>C (p.Lys961Thr)
c.2879A>C (p.Lys960Thr)
n.286A>C
 gnomAD v4
16g.56902507A>GCA396001590SLC12A3c.2855A>G (p.Lys952Arg)
c.2852A>G (p.Lys951Arg)
c.2882A>G (p.Lys961Arg)
c.2879A>G (p.Lys960Arg)
n.286A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56902507A>TCA396001592SLC12A3c.2855A>T (p.Lys952Met)
c.2852A>T (p.Lys951Met)
c.2882A>T (p.Lys961Met)
c.2879A>T (p.Lys960Met)
n.286A>T
 dbSNP gnomAD v3 gnomAD v4
16g.56902507_56902508insAGCA2633375683SLC12A3c.2855_2856insAG (p.Ser953GlyfsTer6)
c.2852_2853insAG (p.Ser952GlyfsTer6)
c.2882_2883insAG (p.Ser962GlyfsTer6)
c.2879_2880insAG (p.Ser961GlyfsTer6)
n.286_287insAG
 gnomAD v4
16g.56902508G>ACA495613412SLC12A3c.2856G>A (p.Lys952=)
c.2853G>A (p.Lys951=)
c.2883G>A (p.Lys961=)
c.2880G>A (p.Lys960=)
n.287G>A
 ClinVar dbSNP gnomAD v4
16g.56902508G>CCA396001594SLC12A3c.2856G>C (p.Lys952Asn)
c.2853G>C (p.Lys951Asn)
c.2883G>C (p.Lys961Asn)
c.2880G>C (p.Lys960Asn)
n.287G>C
16g.56902508G>TCA396001596SLC12A3c.2856G>T (p.Lys952Asn)
c.2853G>T (p.Lys951Asn)
c.2883G>T (p.Lys961Asn)
c.2880G>T (p.Lys960Asn)
n.287G>T
 gnomAD v4
16g.56902509dupCA977655763SLC12A3c.2856+1dup
c.2853+1dup
c.2883+1dup
c.2880+1dup
n.287+1dup
 gnomAD v3 gnomAD v4
16g.56902509G>ACA396001598SLC12A3c.2856+1G>A (n.2856+1G>A)
c.2853+1G>A (n.2853+1G>A)
c.2883+1G>A (n.2883+1G>A)
c.2880+1G>A (n.2880+1G>A)
n.287+1G>A
 ClinVar dbSNP
16g.56902509G>CCA396001603SLC12A3c.2856+1G>C (n.2856+1G>C)
c.2853+1G>C (n.2853+1G>C)
c.2883+1G>C (n.2883+1G>C)
c.2880+1G>C (n.2880+1G>C)
n.287+1G>C
16g.56902509G=CA2224364854SLC12A3c.2856+1G= (n.2856+1G=)
c.2853+1G= (n.2853+1G=)
c.2883+1G= (n.2883+1G=)
c.2880+1G= (n.2880+1G=)
n.287+1G=
16g.56902509G>TCA8070077SLC12A3c.2856+1G>T (n.2856+1G>T)
c.2853+1G>T (n.2853+1G>T)
c.2883+1G>T (n.2883+1G>T)
c.2880+1G>T (n.2880+1G>T)
n.287+1G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56902510delCA2633375686SLC12A3c.2856+2del (n.2856+2del)
c.2853+2del (n.2853+2del)
c.2883+2del (n.2883+2del)
c.2880+2del (n.2880+2del)
n.287+2del
 gnomAD v4
16g.56902510T>ACA396001606SLC12A3c.2856+2T>A (n.2856+2T>A)
c.2853+2T>A (n.2853+2T>A)
c.2883+2T>A (n.2883+2T>A)
c.2880+2T>A (n.2880+2T>A)
n.287+2T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.56902510T>CCA396001612SLC12A3c.2856+2T>C (n.2856+2T>C)
c.2853+2T>C (n.2853+2T>C)
c.2883+2T>C (n.2883+2T>C)
c.2880+2T>C (n.2880+2T>C)
n.287+2T>C
16g.56902510T>GCA396001609SLC12A3c.2856+2T>G (n.2856+2T>G)
c.2853+2T>G (n.2853+2T>G)
c.2883+2T>G (n.2883+2T>G)
c.2880+2T>G (n.2880+2T>G)
n.287+2T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56902510T=CA2224364855SLC12A3c.2856+2T= (n.2856+2T=)
c.2853+2T= (n.2853+2T=)
c.2883+2T= (n.2883+2T=)
c.2880+2T= (n.2880+2T=)
n.287+2T=
16g.56902510_56902512delCA2633375685SLC12A3c.2856+2_2856+4del (n.2856+2_2856+4del)
c.2853+2_2853+4del (n.2853+2_2853+4del)
c.2883+2_2883+4del (n.2883+2_2883+4del)
c.2880+2_2880+4del (n.2880+2_2880+4del)
n.287+2_287+4del
 gnomAD v4
16g.56902510_56902515delCA977655771SLC12A3c.2856+2_2856+7del (n.2856+2_2856+7del)
c.2853+2_2853+7del (n.2853+2_2853+7del)
c.2883+2_2883+7del (n.2883+2_2883+7del)
c.2880+2_2880+7del (n.2880+2_2880+7del)
n.287+2_287+7del
 gnomAD v3 gnomAD v4
16g.56902511G>ACA721949574SLC12A3c.2856+3G>A (n.2856+3G>A)
c.2853+3G>A (n.2853+3G>A)
c.2883+3G>A (n.2883+3G>A)
c.2880+3G>A (n.2880+3G>A)
n.287+3G>A
 dbSNP gnomAD v3 gnomAD v4
16g.56902511G=CA2224364857SLC12A3c.2856+3G= (n.2856+3G=)
c.2853+3G= (n.2853+3G=)
c.2883+3G= (n.2883+3G=)
c.2880+3G= (n.2880+3G=)
n.287+3G=
16g.56902511G>TCA2633375688SLC12A3c.2856+3G>T (n.2856+3G>T)
c.2853+3G>T (n.2853+3G>T)
c.2883+3G>T (n.2883+3G>T)
c.2880+3G>T (n.2880+3G>T)
n.287+3G>T
 gnomAD v4
16g.56902511_56902513delinsGCACA2224364856SLC12A3c.2856+3_2856+5delinsGCA (n.2856+3_2856+5delinsGCA)
c.2853+3_2853+5delinsGCA (n.2853+3_2853+5delinsGCA)
c.2883+3_2883+5delinsGCA (n.2883+3_2883+5delinsGCA)
c.2880+3_2880+5delinsGCA (n.2880+3_2880+5delinsGCA)
n.287+3_287+5delinsGCA
16g.56902512_56902516delCA2807160637SLC12A3c.2856+4_2856+8del (n.2856+4_2856+8del)
c.2853+4_2853+8del (n.2853+4_2853+8del)
c.2883+4_2883+8del (n.2883+4_2883+8del)
c.2880+4_2880+8del (n.2880+4_2880+8del)
n.287+4_287+8del
16g.56902512delCA2529796070SLC12A3c.2856+4del (n.2856+4del)
c.2853+4del (n.2853+4del)
c.2883+4del (n.2883+4del)
c.2880+4del (n.2880+4del)
n.287+4del
 gnomAD v4
16g.56902512C>ACA622341853SLC12A3c.2856+4C>A (n.2856+4C>A)
c.2853+4C>A (n.2853+4C>A)
c.2883+4C>A (n.2883+4C>A)
c.2880+4C>A (n.2880+4C>A)
n.287+4C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56902512C=CA2224364858SLC12A3c.2856+4C= (n.2856+4C=)
c.2853+4C= (n.2853+4C=)
c.2883+4C= (n.2883+4C=)
c.2880+4C= (n.2880+4C=)
n.287+4C=
16g.56902512C>GCA622341856SLC12A3c.2856+4C>G (n.2856+4C>G)
c.2853+4C>G (n.2853+4C>G)
c.2883+4C>G (n.2883+4C>G)
c.2880+4C>G (n.2880+4C>G)
n.287+4C>G
 gnomAD v2 gnomAD v3 gnomAD v4
16g.56902512C>TCA977655776SLC12A3c.2856+4C>T (n.2856+4C>T)
c.2853+4C>T (n.2853+4C>T)
c.2883+4C>T (n.2883+4C>T)
c.2880+4C>T (n.2880+4C>T)
n.287+4C>T
 dbSNP gnomAD v3 gnomAD v4
16g.56902512_56902513delCA622341852SLC12A3c.2856+4_2856+5del (n.2856+4_2856+5del)
c.2853+4_2853+5del (n.2853+4_2853+5del)
c.2883+4_2883+5del (n.2883+4_2883+5del)
c.2880+4_2880+5del (n.2880+4_2880+5del)
n.287+4_287+5del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56902512_56902515delCA2633375690SLC12A3c.2856+4_2856+7del (n.2856+4_2856+7del)
c.2853+4_2853+7del (n.2853+4_2853+7del)
c.2883+4_2883+7del (n.2883+4_2883+7del)
c.2880+4_2880+7del (n.2880+4_2880+7del)
n.287+4_287+7del
 gnomAD v4
16g.56902512_56902517delCA2633375689SLC12A3c.2856+4_2856+9del (n.2856+4_2856+9del)
c.2853+4_2853+9del (n.2853+4_2853+9del)
c.2883+4_2883+9del (n.2883+4_2883+9del)
c.2880+4_2880+9del (n.2880+4_2880+9del)
n.287+4_287+9del
 gnomAD v4
16g.56902513delCA622341860SLC12A3c.2856+5del (n.2856+5del)
c.2853+5del (n.2853+5del)
c.2883+5del (n.2883+5del)
c.2880+5del (n.2880+5del)
n.287+5del
 gnomAD v2 gnomAD v4
16g.56902513A=CA2224364859SLC12A3c.2856+5A= (n.2856+5A=)
c.2853+5A= (n.2853+5A=)
c.2883+5A= (n.2883+5A=)
c.2880+5A= (n.2880+5A=)
n.287+5A=
16g.56902513A>CCA721949580SLC12A3c.2856+5A>C (n.2856+5A>C)
c.2853+5A>C (n.2853+5A>C)
c.2883+5A>C (n.2883+5A>C)
c.2880+5A>C (n.2880+5A>C)
n.287+5A>C
 dbSNP gnomAD v3 gnomAD v4
16g.56902513A>GCA622341861SLC12A3c.2856+5A>G (n.2856+5A>G)
c.2853+5A>G (n.2853+5A>G)
c.2883+5A>G (n.2883+5A>G)
c.2880+5A>G (n.2880+5A>G)
n.287+5A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56902513A>TCA977655780SLC12A3c.2856+5A>T (n.2856+5A>T)
c.2853+5A>T (n.2853+5A>T)
c.2883+5A>T (n.2883+5A>T)
c.2880+5A>T (n.2880+5A>T)
n.287+5A>T
 dbSNP gnomAD v3 gnomAD v4
16g.56902514G>ACA622341865SLC12A3c.2856+6G>A (n.2856+6G>A)
c.2853+6G>A (n.2853+6G>A)
c.2883+6G>A (n.2883+6G>A)
c.2880+6G>A (n.2880+6G>A)
n.287+6G>A
 dbSNP gnomAD v2 gnomAD v4
16g.56902514G=CA2224364860SLC12A3c.2856+6G= (n.2856+6G=)
c.2853+6G= (n.2853+6G=)
c.2883+6G= (n.2883+6G=)
c.2880+6G= (n.2880+6G=)
n.287+6G=
16g.56902514G>TCA2633375696SLC12A3c.2856+6G>T (n.2856+6G>T)
c.2853+6G>T (n.2853+6G>T)
c.2883+6G>T (n.2883+6G>T)
c.2880+6G>T (n.2880+6G>T)
n.287+6G>T
 gnomAD v4
16g.56902514_56902515insGGCA977655792SLC12A3c.2856+6_2856+7insGG (n.2856+6_2856+7insGG)
c.2853+6_2853+7insGG (n.2853+6_2853+7insGG)
c.2883+6_2883+7insGG (n.2883+6_2883+7insGG)
c.2880+6_2880+7insGG (n.2880+6_2880+7insGG)
n.287+6_287+7insGG
 gnomAD v3 gnomAD v4
16g.56902514_56902515insGGGGCA2633375697SLC12A3c.2856+6_2856+7insGGGG (n.2856+6_2856+7insGGGG)
c.2853+6_2853+7insGGGG (n.2853+6_2853+7insGGGG)
c.2883+6_2883+7insGGGG (n.2883+6_2883+7insGGGG)
c.2880+6_2880+7insGGGG (n.2880+6_2880+7insGGGG)
n.287+6_287+7insGGGG
 gnomAD v4
16g.56902514_56902515insGGGGGCA977655790SLC12A3c.2856+6_2856+7insGGGGG (n.2856+6_2856+7insGGGGG)
c.2853+6_2853+7insGGGGG (n.2853+6_2853+7insGGGGG)
c.2883+6_2883+7insGGGGG (n.2883+6_2883+7insGGGGG)
c.2880+6_2880+7insGGGGG (n.2880+6_2880+7insGGGGG)
n.287+6_287+7insGGGGG
 gnomAD v3 gnomAD v4
16g.56902514_56902515insGGGGGGCA622341864SLC12A3c.2856+6_2856+7insGGGGGG (n.2856+6_2856+7insGGGGGG)
c.2853+6_2853+7insGGGGGG (n.2853+6_2853+7insGGGGGG)
c.2883+6_2883+7insGGGGGG (n.2883+6_2883+7insGGGGGG)
c.2880+6_2880+7insGGGGGG (n.2880+6_2880+7insGGGGGG)
n.287+6_287+7insGGGGGG
 gnomAD v2 gnomAD v3 gnomAD v4
16g.56902514_56902515insGGGGGGGCA977655788SLC12A3c.2856+6_2856+7insGGGGGGG (n.2856+6_2856+7insGGGGGGG)
c.2853+6_2853+7insGGGGGGG (n.2853+6_2853+7insGGGGGGG)
c.2883+6_2883+7insGGGGGGG (n.2883+6_2883+7insGGGGGGG)
c.2880+6_2880+7insGGGGGGG (n.2880+6_2880+7insGGGGGGG)
n.287+6_287+7insGGGGGGG
 gnomAD v3 gnomAD v4
16g.56902514_56902515insGGGGGGGGCA977655786SLC12A3c.2856+6_2856+7insGGGGGGGG (n.2856+6_2856+7insGGGGGGGG)
c.2853+6_2853+7insGGGGGGGG (n.2853+6_2853+7insGGGGGGGG)
c.2883+6_2883+7insGGGGGGGG (n.2883+6_2883+7insGGGGGGGG)
c.2880+6_2880+7insGGGGGGGG (n.2880+6_2880+7insGGGGGGGG)
n.287+6_287+7insGGGGGGGG
16g.56902514_56902515insGGGGGGGGGGCA2633375698SLC12A3c.2856+6_2856+7insGGGGGGGGGG (n.2856+6_2856+7insGGGGGGGGGG)
c.2853+6_2853+7insGGGGGGGGGG (n.2853+6_2853+7insGGGGGGGGGG)
c.2883+6_2883+7insGGGGGGGGGG (n.2883+6_2883+7insGGGGGGGGGG)
c.2880+6_2880+7insGGGGGGGGGG (n.2880+6_2880+7insGGGGGGGGGG)
n.287+6_287+7insGGGGGGGGGG
 gnomAD v4
16g.56902515delCA2633375703SLC12A3c.2856+7del (n.2856+7del)
c.2853+7del (n.2853+7del)
c.2883+7del (n.2883+7del)
c.2880+7del (n.2880+7del)
n.287+7del
 gnomAD v4
16g.56902515A=CA2224364861SLC12A3c.2856+7A= (n.2856+7A=)
c.2853+7A= (n.2853+7A=)
c.2883+7A= (n.2883+7A=)
c.2880+7A= (n.2880+7A=)
n.287+7A=
16g.56902515A>CCA2633375702SLC12A3c.2856+7A>C (n.2856+7A>C)
c.2853+7A>C (n.2853+7A>C)
c.2883+7A>C (n.2883+7A>C)
c.2880+7A>C (n.2880+7A>C)
n.287+7A>C
 gnomAD v4
16g.56902515A>GCA622341867SLC12A3c.2856+7A>G (n.2856+7A>G)
c.2853+7A>G (n.2853+7A>G)
c.2883+7A>G (n.2883+7A>G)
c.2880+7A>G (n.2880+7A>G)
n.287+7A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56902515A>TCA977655797SLC12A3c.2856+7A>T (n.2856+7A>T)
c.2853+7A>T (n.2853+7A>T)
c.2883+7A>T (n.2883+7A>T)
c.2880+7A>T (n.2880+7A>T)
n.287+7A>T
 dbSNP gnomAD v3 gnomAD v4
16g.56902515_56902517delCA2633375704SLC12A3c.2856+7_2856+9del (n.2856+7_2856+9del)
c.2853+7_2853+9del (n.2853+7_2853+9del)
c.2883+7_2883+9del (n.2883+7_2883+9del)
c.2880+7_2880+9del (n.2880+7_2880+9del)
n.287+7_287+9del
 gnomAD v4
16g.56902515_56902516insAGGCA2633375715SLC12A3c.2856+7_2856+8insAGG (n.2856+7_2856+8insAGG)
c.2853+7_2853+8insAGG (n.2853+7_2853+8insAGG)
c.2883+7_2883+8insAGG (n.2883+7_2883+8insAGG)
c.2880+7_2880+8insAGG (n.2880+7_2880+8insAGG)
n.287+7_287+8insAGG
 gnomAD v4
16g.56902515_56902516insCAGGGCA2633375708SLC12A3c.2856+7_2856+8insCAGGG (n.2856+7_2856+8insCAGGG)
c.2853+7_2853+8insCAGGG (n.2853+7_2853+8insCAGGG)
c.2883+7_2883+8insCAGGG (n.2883+7_2883+8insCAGGG)
c.2880+7_2880+8insCAGGG (n.2880+7_2880+8insCAGGG)
n.287+7_287+8insCAGGG
 gnomAD v4
16g.56902515_56902516insAGGGGGGCA2633375710SLC12A3c.2856+7_2856+8insAGGGGGG (n.2856+7_2856+8insAGGGGGG)
c.2853+7_2853+8insAGGGGGG (n.2853+7_2853+8insAGGGGGG)
c.2883+7_2883+8insAGGGGGG (n.2883+7_2883+8insAGGGGGG)
c.2880+7_2880+8insAGGGGGG (n.2880+7_2880+8insAGGGGGG)
n.287+7_287+8insAGGGGGG
 gnomAD v4
16g.56902516G>TCA2633375711SLC12A3c.2856+8G>T (n.2856+8G>T)
c.2853+8G>T (n.2853+8G>T)
c.2883+8G>T (n.2883+8G>T)
c.2880+8G>T (n.2880+8G>T)
n.287+8G>T
 gnomAD v4
16g.56902516_56902517insGGCA622341874SLC12A3c.2856+8_2856+9insGG (n.2856+8_2856+9insGG)
c.2853+8_2853+9insGG (n.2853+8_2853+9insGG)
c.2883+8_2883+9insGG (n.2883+8_2883+9insGG)
c.2880+8_2880+9insGG (n.2880+8_2880+9insGG)
n.287+8_287+9insGG
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56902516_56902517insGGGCA2633375726SLC12A3c.2856+8_2856+9insGGG (n.2856+8_2856+9insGGG)
c.2853+8_2853+9insGGG (n.2853+8_2853+9insGGG)
c.2883+8_2883+9insGGG (n.2883+8_2883+9insGGG)
c.2880+8_2880+9insGGG (n.2880+8_2880+9insGGG)
n.287+8_287+9insGGG
 gnomAD v4
16g.56902516_56902517insGGGGCA622341877SLC12A3c.2856+8_2856+9insGGGG (n.2856+8_2856+9insGGGG)
c.2853+8_2853+9insGGGG (n.2853+8_2853+9insGGGG)
c.2883+8_2883+9insGGGG (n.2883+8_2883+9insGGGG)
c.2880+8_2880+9insGGGG (n.2880+8_2880+9insGGGG)
n.287+8_287+9insGGGG
 gnomAD v2 gnomAD v3 gnomAD v4
16g.56902516_56902517insCGGGGCA2633375723SLC12A3c.2856+8_2856+9insCGGGG (n.2856+8_2856+9insCGGGG)
c.2853+8_2853+9insCGGGG (n.2853+8_2853+9insCGGGG)
c.2883+8_2883+9insCGGGG (n.2883+8_2883+9insCGGGG)
c.2880+8_2880+9insCGGGG (n.2880+8_2880+9insCGGGG)
n.287+8_287+9insCGGGG
 gnomAD v4
16g.56902516_56902517insGGGGGCA2633375728SLC12A3c.2856+8_2856+9insGGGGG (n.2856+8_2856+9insGGGGG)
c.2853+8_2853+9insGGGGG (n.2853+8_2853+9insGGGGG)
c.2883+8_2883+9insGGGGG (n.2883+8_2883+9insGGGGG)
c.2880+8_2880+9insGGGGG (n.2880+8_2880+9insGGGGG)
n.287+8_287+9insGGGGG
 gnomAD v4
16g.56902516_56902517insCGGGGGCA2633375725SLC12A3c.2856+8_2856+9insCGGGGG (n.2856+8_2856+9insCGGGGG)
c.2853+8_2853+9insCGGGGG (n.2853+8_2853+9insCGGGGG)
c.2883+8_2883+9insCGGGGG (n.2883+8_2883+9insCGGGGG)
c.2880+8_2880+9insCGGGGG (n.2880+8_2880+9insCGGGGG)
n.287+8_287+9insCGGGGG
 gnomAD v4
16g.56902516_56902517insGGGGGGCA622341869SLC12A3c.2856+8_2856+9insGGGGGG (n.2856+8_2856+9insGGGGGG)
c.2853+8_2853+9insGGGGGG (n.2853+8_2853+9insGGGGGG)
c.2883+8_2883+9insGGGGGG (n.2883+8_2883+9insGGGGGG)
c.2880+8_2880+9insGGGGGG (n.2880+8_2880+9insGGGGGG)
n.287+8_287+9insGGGGGG
 gnomAD v2 gnomAD v3 gnomAD v4
16g.56902516_56902517insGGGGGGGCA2633375722SLC12A3c.2856+8_2856+9insGGGGGGG (n.2856+8_2856+9insGGGGGGG)
c.2853+8_2853+9insGGGGGGG (n.2853+8_2853+9insGGGGGGG)
c.2883+8_2883+9insGGGGGGG (n.2883+8_2883+9insGGGGGGG)
c.2880+8_2880+9insGGGGGGG (n.2880+8_2880+9insGGGGGGG)
n.287+8_287+9insGGGGGGG
 gnomAD v4
16g.56902516_56902517insGGGGGGGGCA622341871SLC12A3c.2856+8_2856+9insGGGGGGGG (n.2856+8_2856+9insGGGGGGGG)
c.2853+8_2853+9insGGGGGGGG (n.2853+8_2853+9insGGGGGGGG)
c.2883+8_2883+9insGGGGGGGG (n.2883+8_2883+9insGGGGGGGG)
c.2880+8_2880+9insGGGGGGGG (n.2880+8_2880+9insGGGGGGGG)
n.287+8_287+9insGGGGGGGG
 gnomAD v2 gnomAD v3 gnomAD v4
16g.56902516_56902517insGGGGGGGGGCA622341868SLC12A3c.2856+8_2856+9insGGGGGGGGG (n.2856+8_2856+9insGGGGGGGGG)
c.2853+8_2853+9insGGGGGGGGG (n.2853+8_2853+9insGGGGGGGGG)
c.2883+8_2883+9insGGGGGGGGG (n.2883+8_2883+9insGGGGGGGGG)
c.2880+8_2880+9insGGGGGGGGG (n.2880+8_2880+9insGGGGGGGGG)
n.287+8_287+9insGGGGGGGGG
 gnomAD v2 gnomAD v4
16g.56902516_56902517insGGGGGGGGGGCA2633375720SLC12A3c.2856+8_2856+9insGGGGGGGGGG (n.2856+8_2856+9insGGGGGGGGGG)
c.2853+8_2853+9insGGGGGGGGGG (n.2853+8_2853+9insGGGGGGGGGG)
c.2883+8_2883+9insGGGGGGGGGG (n.2883+8_2883+9insGGGGGGGGGG)
c.2880+8_2880+9insGGGGGGGGGG (n.2880+8_2880+9insGGGGGGGGGG)
n.287+8_287+9insGGGGGGGGGG
 gnomAD v4
16g.56902516_56902517insGGGGGGGGGGGCA2633375718SLC12A3c.2856+8_2856+9insGGGGGGGGGGG (n.2856+8_2856+9insGGGGGGGGGGG)
c.2853+8_2853+9insGGGGGGGGGGG (n.2853+8_2853+9insGGGGGGGGGGG)
c.2883+8_2883+9insGGGGGGGGGGG (n.2883+8_2883+9insGGGGGGGGGGG)
c.2880+8_2880+9insGGGGGGGGGGG (n.2880+8_2880+9insGGGGGGGGGGG)
n.287+8_287+9insGGGGGGGGGGG
 gnomAD v4
16g.56902516_56902517insGGGGGGGGGGGGCA2633375716SLC12A3c.2856+8_2856+9insGGGGGGGGGGGG (n.2856+8_2856+9insGGGGGGGGGGGG)
c.2853+8_2853+9insGGGGGGGGGGGG (n.2853+8_2853+9insGGGGGGGGGGGG)
c.2883+8_2883+9insGGGGGGGGGGGG (n.2883+8_2883+9insGGGGGGGGGGGG)
c.2880+8_2880+9insGGGGGGGGGGGG (n.2880+8_2880+9insGGGGGGGGGGGG)
n.287+8_287+9insGGGGGGGGGGGG
 gnomAD v4
16g.56902516_56902517delinsGACA2224364862SLC12A3c.2856+8_2856+9delinsGA (n.2856+8_2856+9delinsGA)
c.2853+8_2853+9delinsGA (n.2853+8_2853+9delinsGA)
c.2883+8_2883+9delinsGA (n.2883+8_2883+9delinsGA)
c.2880+8_2880+9delinsGA (n.2880+8_2880+9delinsGA)
n.287+8_287+9delinsGA
16g.56902517delCA622341879SLC12A3c.2856+9del (n.2856+9del)
c.2853+9del (n.2853+9del)
c.2883+9del (n.2883+9del)
c.2880+9del (n.2880+9del)
n.287+9del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56902517A=CA2224364863SLC12A3c.2856+9A= (n.2856+9A=)
c.2853+9A= (n.2853+9A=)
c.2883+9A= (n.2883+9A=)
c.2880+9A= (n.2880+9A=)
n.287+9A=
16g.56902517A>CCA2633375732SLC12A3c.2856+9A>C (n.2856+9A>C)
c.2853+9A>C (n.2853+9A>C)
c.2883+9A>C (n.2883+9A>C)
c.2880+9A>C (n.2880+9A>C)
n.287+9A>C
 gnomAD v4
16g.56902517A>GCA8070078SLC12A3c.2856+9A>G (n.2856+9A>G)
c.2853+9A>G (n.2853+9A>G)
c.2883+9A>G (n.2883+9A>G)
c.2880+9A>G (n.2880+9A>G)
n.287+9A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56902517A>TCA915949277SLC12A3c.2856+9A>T (n.2856+9A>T)
c.2853+9A>T (n.2853+9A>T)
c.2883+9A>T (n.2883+9A>T)
c.2880+9A>T (n.2880+9A>T)
n.287+9A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.56902517_56902518insTGGGGGCA2807160638SLC12A3c.2856+9_2856+10insTGGGGG (n.2856+9_2856+10insTGGGGG)
c.2853+9_2853+10insTGGGGG (n.2853+9_2853+10insTGGGGG)
c.2883+9_2883+10insTGGGGG (n.2883+9_2883+10insTGGGGG)
c.2880+9_2880+10insTGGGGG (n.2880+9_2880+10insTGGGGG)
n.287+9_287+10insTGGGGG
16g.56902517_56902518insAGGGGGGGGGGGCA2633375806SLC12A3c.2856+9_2856+10insAGGGGGGGGGGG (n.2856+9_2856+10insAGGGGGGGGGGG)
c.2853+9_2853+10insAGGGGGGGGGGG (n.2853+9_2853+10insAGGGGGGGGGGG)
c.2883+9_2883+10insAGGGGGGGGGGG (n.2883+9_2883+10insAGGGGGGGGGGG)
c.2880+9_2880+10insAGGGGGGGGGGG (n.2880+9_2880+10insAGGGGGGGGGGG)
n.287+9_287+10insAGGGGGGGGGGG
 gnomAD v4
16g.56902518G>TCA2633375800SLC12A3c.2856+10G>T (n.2856+10G>T)
c.2853+10G>T (n.2853+10G>T)
c.2883+10G>T (n.2883+10G>T)
c.2880+10G>T (n.2880+10G>T)
n.287+10G>T
 gnomAD v4
16g.56902518_56902519insAGGGGGCA977655811SLC12A3c.2856+10_2856+11insAGGGGG (n.2856+10_2856+11insAGGGGG)
c.2853+10_2853+11insAGGGGG (n.2853+10_2853+11insAGGGGG)
c.2883+10_2883+11insAGGGGG (n.2883+10_2883+11insAGGGGG)
c.2880+10_2880+11insAGGGGG (n.2880+10_2880+11insAGGGGG)
n.287+10_287+11insAGGGGG
 gnomAD v3 gnomAD v4
16g.56902520_56902521insAGGGGGCA2633375804SLC12A3c.2856+12_2856+13insAGGGGG (n.2856+12_2856+13insAGGGGG)
c.2853+12_2853+13insAGGGGG (n.2853+12_2853+13insAGGGGG)
c.2883+12_2883+13insAGGGGG (n.2883+12_2883+13insAGGGGG)
c.2880+12_2880+13insAGGGGG (n.2880+12_2880+13insAGGGGG)
n.287+12_287+13insAGGGGG
 gnomAD v4
16g.56902520_56902521insTGAAGGGGGGGCA2633375791SLC12A3c.2856+12_2856+13insTGAAGGGGGGG (n.2856+12_2856+13insTGAAGGGGGGG)
c.2853+12_2853+13insTGAAGGGGGGG (n.2853+12_2853+13insTGAAGGGGGGG)
c.2883+12_2883+13insTGAAGGGGGGG (n.2883+12_2883+13insTGAAGGGGGGG)
c.2880+12_2880+13insTGAAGGGGGGG (n.2880+12_2880+13insTGAAGGGGGGG)
n.287+12_287+13insTGAAGGGGGGG
 gnomAD v4
16g.56902521_56902522insGGGGGCA977655817SLC12A3c.2856+13_2856+14insGGGGG (n.2856+13_2856+14insGGGGG)
c.2853+13_2853+14insGGGGG (n.2853+13_2853+14insGGGGG)
c.2883+13_2883+14insGGGGG (n.2883+13_2883+14insGGGGG)
c.2880+13_2880+14insGGGGG (n.2880+13_2880+14insGGGGG)
n.287+13_287+14insGGGGG
 gnomAD v3 gnomAD v4
16g.56902521_56902522insGGGGGGCA622341882SLC12A3c.2856+13_2856+14insGGGGGG (n.2856+13_2856+14insGGGGGG)
c.2853+13_2853+14insGGGGGG (n.2853+13_2853+14insGGGGGG)
c.2883+13_2883+14insGGGGGG (n.2883+13_2883+14insGGGGGG)
c.2880+13_2880+14insGGGGGG (n.2880+13_2880+14insGGGGGG)
n.287+13_287+14insGGGGGG
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56902521_56902522insAGGGGGGCA977655829SLC12A3c.2856+13_2856+14insAGGGGGG (n.2856+13_2856+14insAGGGGGG)
c.2853+13_2853+14insAGGGGGG (n.2853+13_2853+14insAGGGGGG)
c.2883+13_2883+14insAGGGGGG (n.2883+13_2883+14insAGGGGGG)
c.2880+13_2880+14insAGGGGGG (n.2880+13_2880+14insAGGGGGG)
n.287+13_287+14insAGGGGGG
 gnomAD v3 gnomAD v4
16g.56902521_56902522insGGGGGGGCA977655815SLC12A3c.2856+13_2856+14insGGGGGGG (n.2856+13_2856+14insGGGGGGG)
c.2853+13_2853+14insGGGGGGG (n.2853+13_2853+14insGGGGGGG)
c.2883+13_2883+14insGGGGGGG (n.2883+13_2883+14insGGGGGGG)
c.2880+13_2880+14insGGGGGGG (n.2880+13_2880+14insGGGGGGG)
n.287+13_287+14insGGGGGGG
 gnomAD v3 gnomAD v4
16g.56902521_56902522insGGGGGGGGCA919713949SLC12A3c.2856+13_2856+14insGGGGGGGG (n.2856+13_2856+14insGGGGGGGG)
c.2853+13_2853+14insGGGGGGGG (n.2853+13_2853+14insGGGGGGGG)
c.2883+13_2883+14insGGGGGGGG (n.2883+13_2883+14insGGGGGGGG)
c.2880+13_2880+14insGGGGGGGG (n.2880+13_2880+14insGGGGGGGG)
n.287+13_287+14insGGGGGGGG
 dbSNP gnomAD v3 gnomAD v4
16g.56902521_56902522insAGGGGGGGGCA977655827SLC12A3c.2856+13_2856+14insAGGGGGGGG (n.2856+13_2856+14insAGGGGGGGG)
c.2853+13_2853+14insAGGGGGGGG (n.2853+13_2853+14insAGGGGGGGG)
c.2883+13_2883+14insAGGGGGGGG (n.2883+13_2883+14insAGGGGGGGG)
c.2880+13_2880+14insAGGGGGGGG (n.2880+13_2880+14insAGGGGGGGG)
n.287+13_287+14insAGGGGGGGG
 gnomAD v3 gnomAD v4
16g.56902521_56902522insCGGGGGGGGCA977655820SLC12A3c.2856+13_2856+14insCGGGGGGGG (n.2856+13_2856+14insCGGGGGGGG)
c.2853+13_2853+14insCGGGGGGGG (n.2853+13_2853+14insCGGGGGGGG)
c.2883+13_2883+14insCGGGGGGGG (n.2883+13_2883+14insCGGGGGGGG)
c.2880+13_2880+14insCGGGGGGGG (n.2880+13_2880+14insCGGGGGGGG)
n.287+13_287+14insCGGGGGGGG
 gnomAD v3 gnomAD v4
16g.56902521_56902522insGGGGGGGGGCA2633375762SLC12A3c.2856+13_2856+14insGGGGGGGGG (n.2856+13_2856+14insGGGGGGGGG)
c.2853+13_2853+14insGGGGGGGGG (n.2853+13_2853+14insGGGGGGGGG)
c.2883+13_2883+14insGGGGGGGGG (n.2883+13_2883+14insGGGGGGGGG)
c.2880+13_2880+14insGGGGGGGGG (n.2880+13_2880+14insGGGGGGGGG)
n.287+13_287+14insGGGGGGGGG
 gnomAD v4
16g.56902521_56902522insAGGGGGGGGGCA977655826SLC12A3c.2856+13_2856+14insAGGGGGGGGG (n.2856+13_2856+14insAGGGGGGGGG)
c.2853+13_2853+14insAGGGGGGGGG (n.2853+13_2853+14insAGGGGGGGGG)
c.2883+13_2883+14insAGGGGGGGGG (n.2883+13_2883+14insAGGGGGGGGG)
c.2880+13_2880+14insAGGGGGGGGG (n.2880+13_2880+14insAGGGGGGGGG)
n.287+13_287+14insAGGGGGGGGG
 gnomAD v3 gnomAD v4
16g.56902521_56902522insCGGGGGGGGGCA977655832SLC12A3c.2856+13_2856+14insCGGGGGGGGG (n.2856+13_2856+14insCGGGGGGGGG)
c.2853+13_2853+14insCGGGGGGGGG (n.2853+13_2853+14insCGGGGGGGGG)
c.2883+13_2883+14insCGGGGGGGGG (n.2883+13_2883+14insCGGGGGGGGG)
c.2880+13_2880+14insCGGGGGGGGG (n.2880+13_2880+14insCGGGGGGGGG)
n.287+13_287+14insCGGGGGGGGG
 gnomAD v3 gnomAD v4
16g.56902521_56902522insGAGGGGGGGGCA2633375811SLC12A3c.2856+13_2856+14insGAGGGGGGGG (n.2856+13_2856+14insGAGGGGGGGG)
c.2853+13_2853+14insGAGGGGGGGG (n.2853+13_2853+14insGAGGGGGGGG)
c.2883+13_2883+14insGAGGGGGGGG (n.2883+13_2883+14insGAGGGGGGGG)
c.2880+13_2880+14insGAGGGGGGGG (n.2880+13_2880+14insGAGGGGGGGG)
n.287+13_287+14insGAGGGGGGGG
 gnomAD v4
16g.56902521_56902522insGGGGGGGGGGCA622341884SLC12A3c.2856+13_2856+14insGGGGGGGGGG (n.2856+13_2856+14insGGGGGGGGGG)
c.2853+13_2853+14insGGGGGGGGGG (n.2853+13_2853+14insGGGGGGGGGG)
c.2883+13_2883+14insGGGGGGGGGG (n.2883+13_2883+14insGGGGGGGGGG)
c.2880+13_2880+14insGGGGGGGGGG (n.2880+13_2880+14insGGGGGGGGGG)
n.287+13_287+14insGGGGGGGGGG
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56902521_56902522insAGGGGGGGGGGCA2572650933SLC12A3c.2856+13_2856+14insAGGGGGGGGGG (n.2856+13_2856+14insAGGGGGGGGGG)
c.2853+13_2853+14insAGGGGGGGGGG (n.2853+13_2853+14insAGGGGGGGGGG)
c.2883+13_2883+14insAGGGGGGGGGG (n.2883+13_2883+14insAGGGGGGGGGG)
c.2880+13_2880+14insAGGGGGGGGGG (n.2880+13_2880+14insAGGGGGGGGGG)
n.287+13_287+14insAGGGGGGGGGG
 gnomAD v4
16g.56902521_56902522insGCAGGGGGGGGCA2633375812SLC12A3c.2856+13_2856+14insGCAGGGGGGGG (n.2856+13_2856+14insGCAGGGGGGGG)
c.2853+13_2853+14insGCAGGGGGGGG (n.2853+13_2853+14insGCAGGGGGGGG)
c.2883+13_2883+14insGCAGGGGGGGG (n.2883+13_2883+14insGCAGGGGGGGG)
c.2880+13_2880+14insGCAGGGGGGGG (n.2880+13_2880+14insGCAGGGGGGGG)
n.287+13_287+14insGCAGGGGGGGG
 gnomAD v4
16g.56902521_56902522insGGAGGGGGGGGCA2633375815SLC12A3c.2856+13_2856+14insGGAGGGGGGGG (n.2856+13_2856+14insGGAGGGGGGGG)
c.2853+13_2853+14insGGAGGGGGGGG (n.2853+13_2853+14insGGAGGGGGGGG)
c.2883+13_2883+14insGGAGGGGGGGG (n.2883+13_2883+14insGGAGGGGGGGG)
c.2880+13_2880+14insGGAGGGGGGGG (n.2880+13_2880+14insGGAGGGGGGGG)
n.287+13_287+14insGGAGGGGGGGG
 gnomAD v4
16g.56902521_56902522insGGGGAGGGGGGCA2633375767SLC12A3c.2856+13_2856+14insGGGGAGGGGGG (n.2856+13_2856+14insGGGGAGGGGGG)
c.2853+13_2853+14insGGGGAGGGGGG (n.2853+13_2853+14insGGGGAGGGGGG)
c.2883+13_2883+14insGGGGAGGGGGG (n.2883+13_2883+14insGGGGAGGGGGG)
c.2880+13_2880+14insGGGGAGGGGGG (n.2880+13_2880+14insGGGGAGGGGGG)
n.287+13_287+14insGGGGAGGGGGG
 gnomAD v4
16g.56902521_56902522insGGGGGGGGGGGCA977655812SLC12A3c.2856+13_2856+14insGGGGGGGGGGG (n.2856+13_2856+14insGGGGGGGGGGG)
c.2853+13_2853+14insGGGGGGGGGGG (n.2853+13_2853+14insGGGGGGGGGGG)
c.2883+13_2883+14insGGGGGGGGGGG (n.2883+13_2883+14insGGGGGGGGGGG)
c.2880+13_2880+14insGGGGGGGGGGG (n.2880+13_2880+14insGGGGGGGGGGG)
n.287+13_287+14insGGGGGGGGGGG
 gnomAD v3 gnomAD v4
16g.56902521_56902522insAGGGGGGGGGGGCA2633375808SLC12A3c.2856+13_2856+14insAGGGGGGGGGGG (n.2856+13_2856+14insAGGGGGGGGGGG)
c.2853+13_2853+14insAGGGGGGGGGGG (n.2853+13_2853+14insAGGGGGGGGGGG)
c.2883+13_2883+14insAGGGGGGGGGGG (n.2883+13_2883+14insAGGGGGGGGGGG)
c.2880+13_2880+14insAGGGGGGGGGGG (n.2880+13_2880+14insAGGGGGGGGGGG)
n.287+13_287+14insAGGGGGGGGGGG
 gnomAD v4
16g.56902521_56902522insGGGAGGGGGGGGCA2633375803SLC12A3c.2856+13_2856+14insGGGAGGGGGGGG (n.2856+13_2856+14insGGGAGGGGGGGG)
c.2853+13_2853+14insGGGAGGGGGGGG (n.2853+13_2853+14insGGGAGGGGGGGG)
c.2883+13_2883+14insGGGAGGGGGGGG (n.2883+13_2883+14insGGGAGGGGGGGG)
c.2880+13_2880+14insGGGAGGGGGGGG (n.2880+13_2880+14insGGGAGGGGGGGG)
n.287+13_287+14insGGGAGGGGGGGG
 gnomAD v4
16g.56902521_56902522insGGGGGGGGGGGGCA2633375759SLC12A3c.2856+13_2856+14insGGGGGGGGGGGG (n.2856+13_2856+14insGGGGGGGGGGGG)
c.2853+13_2853+14insGGGGGGGGGGGG (n.2853+13_2853+14insGGGGGGGGGGGG)
c.2883+13_2883+14insGGGGGGGGGGGG (n.2883+13_2883+14insGGGGGGGGGGGG)
c.2880+13_2880+14insGGGGGGGGGGGG (n.2880+13_2880+14insGGGGGGGGGGGG)
n.287+13_287+14insGGGGGGGGGGGG
 gnomAD v4
16g.56902521_56902522insAGGGGGGGGGGGGCA977655825SLC12A3c.2856+13_2856+14insAGGGGGGGGGGGG (n.2856+13_2856+14insAGGGGGGGGGGGG)
c.2853+13_2853+14insAGGGGGGGGGGGG (n.2853+13_2853+14insAGGGGGGGGGGGG)
c.2883+13_2883+14insAGGGGGGGGGGGG (n.2883+13_2883+14insAGGGGGGGGGGGG)
c.2880+13_2880+14insAGGGGGGGGGGGG (n.2880+13_2880+14insAGGGGGGGGGGGG)
n.287+13_287+14insAGGGGGGGGGGGG
 gnomAD v3 gnomAD v4
16g.56902521_56902522insGGGGAGGGGGGGGCA2633375765SLC12A3c.2856+13_2856+14insGGGGAGGGGGGGG (n.2856+13_2856+14insGGGGAGGGGGGGG)
c.2853+13_2853+14insGGGGAGGGGGGGG (n.2853+13_2853+14insGGGGAGGGGGGGG)
c.2883+13_2883+14insGGGGAGGGGGGGG (n.2883+13_2883+14insGGGGAGGGGGGGG)
c.2880+13_2880+14insGGGGAGGGGGGGG (n.2880+13_2880+14insGGGGAGGGGGGGG)
n.287+13_287+14insGGGGAGGGGGGGG
 gnomAD v4
16g.56902521_56902522insGGGGGGGGGGGGGCA2633375757SLC12A3c.2856+13_2856+14insGGGGGGGGGGGGG (n.2856+13_2856+14insGGGGGGGGGGGGG)
c.2853+13_2853+14insGGGGGGGGGGGGG (n.2853+13_2853+14insGGGGGGGGGGGGG)
c.2883+13_2883+14insGGGGGGGGGGGGG (n.2883+13_2883+14insGGGGGGGGGGGGG)
c.2880+13_2880+14insGGGGGGGGGGGGG (n.2880+13_2880+14insGGGGGGGGGGGGG)
n.287+13_287+14insGGGGGGGGGGGGG
 gnomAD v4
16g.56902521_56902522insAGGGGGGGGGGGGGCA2633375809SLC12A3c.2856+13_2856+14insAGGGGGGGGGGGGG (n.2856+13_2856+14insAGGGGGGGGGGGGG)
c.2853+13_2853+14insAGGGGGGGGGGGGG (n.2853+13_2853+14insAGGGGGGGGGGGGG)
c.2883+13_2883+14insAGGGGGGGGGGGGG (n.2883+13_2883+14insAGGGGGGGGGGGGG)
c.2880+13_2880+14insAGGGGGGGGGGGGG (n.2880+13_2880+14insAGGGGGGGGGGGGG)
n.287+13_287+14insAGGGGGGGGGGGGG
 gnomAD v4
16g.56902521_56902522insGGGGGGGGGGGGGGCA2633375753SLC12A3c.2856+13_2856+14insGGGGGGGGGGGGGG (n.2856+13_2856+14insGGGGGGGGGGGGGG)
c.2853+13_2853+14insGGGGGGGGGGGGGG (n.2853+13_2853+14insGGGGGGGGGGGGGG)
c.2883+13_2883+14insGGGGGGGGGGGGGG (n.2883+13_2883+14insGGGGGGGGGGGGGG)
c.2880+13_2880+14insGGGGGGGGGGGGGG (n.2880+13_2880+14insGGGGGGGGGGGGGG)
n.287+13_287+14insGGGGGGGGGGGGGG
 gnomAD v4
16g.56902521_56902522insAGGGGGGGGGGGGGGCA977655824SLC12A3c.2856+13_2856+14insAGGGGGGGGGGGGGG (n.2856+13_2856+14insAGGGGGGGGGGGGGG)
c.2853+13_2853+14insAGGGGGGGGGGGGGG (n.2853+13_2853+14insAGGGGGGGGGGGGGG)
c.2883+13_2883+14insAGGGGGGGGGGGGGG (n.2883+13_2883+14insAGGGGGGGGGGGGGG)
c.2880+13_2880+14insAGGGGGGGGGGGGGG (n.2880+13_2880+14insAGGGGGGGGGGGGGG)
n.287+13_287+14insAGGGGGGGGGGGGGG
 gnomAD v3 gnomAD v4
16g.56902521_56902522insGGGGGGGGGGGGGGGCA2633375771SLC12A3c.2856+13_2856+14insGGGGGGGGGGGGGGG (n.2856+13_2856+14insGGGGGGGGGGGGGGG)
c.2853+13_2853+14insGGGGGGGGGGGGGGG (n.2853+13_2853+14insGGGGGGGGGGGGGGG)
c.2883+13_2883+14insGGGGGGGGGGGGGGG (n.2883+13_2883+14insGGGGGGGGGGGGGGG)
c.2880+13_2880+14insGGGGGGGGGGGGGGG (n.2880+13_2880+14insGGGGGGGGGGGGGGG)
n.287+13_287+14insGGGGGGGGGGGGGGG
 gnomAD v4
16g.56902521_56902522insAGGGGGGGGGGGGGGGCA977655823SLC12A3c.2856+13_2856+14insAGGGGGGGGGGGGGGG (n.2856+13_2856+14insAGGGGGGGGGGGGGGG)
c.2853+13_2853+14insAGGGGGGGGGGGGGGG (n.2853+13_2853+14insAGGGGGGGGGGGGGGG)
c.2883+13_2883+14insAGGGGGGGGGGGGGGG (n.2883+13_2883+14insAGGGGGGGGGGGGGGG)
c.2880+13_2880+14insAGGGGGGGGGGGGGGG (n.2880+13_2880+14insAGGGGGGGGGGGGGGG)
n.287+13_287+14insAGGGGGGGGGGGGGGG
 gnomAD v3 gnomAD v4
16g.56902521_56902522insGGGGGGGGGGGGGGGGCA2633375772SLC12A3c.2856+13_2856+14insGGGGGGGGGGGGGGGG (n.2856+13_2856+14insGGGGGGGGGGGGGGGG)
c.2853+13_2853+14insGGGGGGGGGGGGGGGG (n.2853+13_2853+14insGGGGGGGGGGGGGGGG)
c.2883+13_2883+14insGGGGGGGGGGGGGGGG (n.2883+13_2883+14insGGGGGGGGGGGGGGGG)
c.2880+13_2880+14insGGGGGGGGGGGGGGGG (n.2880+13_2880+14insGGGGGGGGGGGGGGGG)
n.287+13_287+14insGGGGGGGGGGGGGGGG
 gnomAD v4
16g.56902521_56902522insGGGGGGGGGGGGGGGGGCA2633375788SLC12A3c.2856+13_2856+14insGGGGGGGGGGGGGGGGG (n.2856+13_2856+14insGGGGGGGGGGGGGGGGG)
c.2853+13_2853+14insGGGGGGGGGGGGGGGGG (n.2853+13_2853+14insGGGGGGGGGGGGGGGGG)
c.2883+13_2883+14insGGGGGGGGGGGGGGGGG (n.2883+13_2883+14insGGGGGGGGGGGGGGGGG)
c.2880+13_2880+14insGGGGGGGGGGGGGGGGG (n.2880+13_2880+14insGGGGGGGGGGGGGGGGG)
n.287+13_287+14insGGGGGGGGGGGGGGGGG
 gnomAD v4
16g.56902521_56902522insGGGGGGGGGGGGGGGGGGCA2633375789SLC12A3c.2856+13_2856+14insGGGGGGGGGGGGGGGGGG (n.2856+13_2856+14insGGGGGGGGGGGGGGGGGG)
c.2853+13_2853+14insGGGGGGGGGGGGGGGGGG (n.2853+13_2853+14insGGGGGGGGGGGGGGGGGG)
c.2883+13_2883+14insGGGGGGGGGGGGGGGGGG (n.2883+13_2883+14insGGGGGGGGGGGGGGGGGG)
c.2880+13_2880+14insGGGGGGGGGGGGGGGGGG (n.2880+13_2880+14insGGGGGGGGGGGGGGGGGG)
n.287+13_287+14insGGGGGGGGGGGGGGGGGG
 gnomAD v4
16g.56902520_56902521dupCA8070079SLC12A3c.2856+12_2856+13dup (n.2856+12_2856+13dup)
c.2853+12_2853+13dup (n.2853+12_2853+13dup)
c.2883+12_2883+13dup (n.2883+12_2883+13dup)
c.2880+12_2880+13dup (n.2880+12_2880+13dup)
n.287+12_287+13dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56902519_56902521dupCA977655810SLC12A3c.2856+11_2856+13dup (n.2856+11_2856+13dup)
c.2853+11_2853+13dup (n.2853+11_2853+13dup)
c.2883+11_2883+13dup (n.2883+11_2883+13dup)
c.2880+11_2880+13dup (n.2880+11_2880+13dup)
n.287+11_287+13dup
 gnomAD v3 gnomAD v4
16g.56902518_56902521dupCA919713948SLC12A3c.2856+10_2856+13dup (n.2856+10_2856+13dup)
c.2853+10_2853+13dup (n.2853+10_2853+13dup)
c.2883+10_2883+13dup (n.2883+10_2883+13dup)
c.2880+10_2880+13dup (n.2880+10_2880+13dup)
n.287+10_287+13dup
 dbSNP gnomAD v3 gnomAD v4
16g.56902521delCA2633375793SLC12A3c.2856+13del (n.2856+13del)
c.2853+13del (n.2853+13del)
c.2883+13del (n.2883+13del)
c.2880+13del (n.2880+13del)
n.287+13del
 gnomAD v4
16g.56902522_56902526delCA2633375795SLC12A3c.2856+14_2856+18del (n.2856+14_2856+18del)
c.2853+14_2853+18del (n.2853+14_2853+18del)
c.2883+14_2883+18del (n.2883+14_2883+18del)
c.2880+14_2880+18del (n.2880+14_2880+18del)
n.287+14_287+18del
 gnomAD v4
16g.56902526_56902531delCA2502542180SLC12A3c.2856+18_2856+23del (n.2856+18_2856+23del)
c.2853+18_2853+23del (n.2853+18_2853+23del)
c.2883+18_2883+23del (n.2883+18_2883+23del)
c.2880+18_2880+23del (n.2880+18_2880+23del)
n.287+18_287+23del
 gnomAD v4
16g.56902519G>ACA721949608SLC12A3c.2856+11G>A (n.2856+11G>A)
c.2853+11G>A (n.2853+11G>A)
c.2883+11G>A (n.2883+11G>A)
c.2880+11G>A (n.2880+11G>A)
n.287+11G>A
 dbSNP gnomAD v3 gnomAD v4
16g.56902519G=CA2224364864SLC12A3c.2856+11G= (n.2856+11G=)
c.2853+11G= (n.2853+11G=)
c.2883+11G= (n.2883+11G=)
c.2880+11G= (n.2880+11G=)
n.287+11G=
16g.56902519G>TCA2633375824SLC12A3c.2856+11G>T (n.2856+11G>T)
c.2853+11G>T (n.2853+11G>T)
c.2883+11G>T (n.2883+11G>T)
c.2880+11G>T (n.2880+11G>T)
n.287+11G>T
 ClinVar gnomAD v4
16g.56902520G>ACA721949610SLC12A3c.2856+12G>A (n.2856+12G>A)
c.2853+12G>A (n.2853+12G>A)
c.2883+12G>A (n.2883+12G>A)
c.2880+12G>A (n.2880+12G>A)
n.287+12G>A
 ClinVar dbSNP gnomAD v4
16g.56902520G=CA2224364865SLC12A3c.2856+12G= (n.2856+12G=)
c.2853+12G= (n.2853+12G=)
c.2883+12G= (n.2883+12G=)
c.2880+12G= (n.2880+12G=)
n.287+12G=
16g.56902520G>TCA622341885SLC12A3c.2856+12G>T (n.2856+12G>T)
c.2853+12G>T (n.2853+12G>T)
c.2883+12G>T (n.2883+12G>T)
c.2880+12G>T (n.2880+12G>T)
n.287+12G>T
 dbSNP gnomAD v2 gnomAD v4
16g.56902522_56902524delCA2633375826SLC12A3c.2856+14_2856+16del (n.2856+14_2856+16del)
c.2853+14_2853+16del (n.2853+14_2853+16del)
c.2883+14_2883+16del (n.2883+14_2883+16del)
c.2880+14_2880+16del (n.2880+14_2880+16del)
n.287+14_287+16del
 gnomAD v4
16g.56902521G>ACA2576002376SLC12A3c.2856+13G>A (n.2856+13G>A)
c.2853+13G>A (n.2853+13G>A)
c.2883+13G>A (n.2883+13G>A)
c.2880+13G>A (n.2880+13G>A)
n.287+13G>A
 gnomAD v4
16g.56902521G>CCA2633375829SLC12A3c.2856+13G>C (n.2856+13G>C)
c.2853+13G>C (n.2853+13G>C)
c.2883+13G>C (n.2883+13G>C)
c.2880+13G>C (n.2880+13G>C)
n.287+13G>C
 gnomAD v4
16g.56902521G>TCA2633375830SLC12A3c.2856+13G>T (n.2856+13G>T)
c.2853+13G>T (n.2853+13G>T)
c.2883+13G>T (n.2883+13G>T)
c.2880+13G>T (n.2880+13G>T)
n.287+13G>T
 ClinVar gnomAD v4
16g.56902521_56902522delinsGTCA2224364866SLC12A3c.2856+13_2856+14delinsGT (n.2856+13_2856+14delinsGT)
c.2853+13_2853+14delinsGT (n.2853+13_2853+14delinsGT)
c.2883+13_2883+14delinsGT (n.2883+13_2883+14delinsGT)
c.2880+13_2880+14delinsGT (n.2880+13_2880+14delinsGT)
n.287+13_287+14delinsGT
16g.56902522delCA622341887SLC12A3c.2856+14del (n.2856+14del)
c.2853+14del (n.2853+14del)
c.2883+14del (n.2883+14del)
c.2880+14del (n.2880+14del)
n.287+14del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56902522T>ACA977655840SLC12A3c.2856+14T>A (n.2856+14T>A)
c.2853+14T>A (n.2853+14T>A)
c.2883+14T>A (n.2883+14T>A)
c.2880+14T>A (n.2880+14T>A)
n.287+14T>A
 gnomAD v3 gnomAD v4
16g.56902522T>GCA8070080SLC12A3c.2856+14T>G (n.2856+14T>G)
c.2853+14T>G (n.2853+14T>G)
c.2883+14T>G (n.2883+14T>G)
c.2880+14T>G (n.2880+14T>G)
n.287+14T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56902522T=CA2224364867SLC12A3c.2856+14T= (n.2856+14T=)
c.2853+14T= (n.2853+14T=)
c.2883+14T= (n.2883+14T=)
c.2880+14T= (n.2880+14T=)
n.287+14T=
16g.56902523G>ACA8070082SLC12A3c.2856+15G>A (n.2856+15G>A)
c.2853+15G>A (n.2853+15G>A)
c.2883+15G>A (n.2883+15G>A)
c.2880+15G>A (n.2880+15G>A)
n.287+15G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56902523G>CCA8070081SLC12A3c.2856+15G>C (n.2856+15G>C)
c.2853+15G>C (n.2853+15G>C)
c.2883+15G>C (n.2883+15G>C)
c.2880+15G>C (n.2880+15G>C)
n.287+15G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56902523G=CA2224364868SLC12A3c.2856+15G= (n.2856+15G=)
c.2853+15G= (n.2853+15G=)
c.2883+15G= (n.2883+15G=)
c.2880+15G= (n.2880+15G=)
n.287+15G=
16g.56902523G>TCA622341892SLC12A3c.2856+15G>T (n.2856+15G>T)
c.2853+15G>T (n.2853+15G>T)
c.2883+15G>T (n.2883+15G>T)
c.2880+15G>T (n.2880+15G>T)
n.287+15G>T
 dbSNP gnomAD v2 gnomAD v4
16g.56902523_56902524insAGGGTGGAGGGGGGGGGGCA2633375863SLC12A3c.2856+15_2856+16insAGGGTGGAGGGGGGGGGG (n.2856+15_2856+16insAGGGTGGAGGGGGGGGGG)
c.2853+15_2853+16insAGGGTGGAGGGGGGGGGG (n.2853+15_2853+16insAGGGTGGAGGGGGGGGGG)
c.2883+15_2883+16insAGGGTGGAGGGGGGGGGG (n.2883+15_2883+16insAGGGTGGAGGGGGGGGGG)
c.2880+15_2880+16insAGGGTGGAGGGGGGGGGG (n.2880+15_2880+16insAGGGTGGAGGGGGGGGGG)
n.287+15_287+16insAGGGTGGAGGGGGGGGGG
 gnomAD v4
16g.56902524_56902525insAGGGGGGGGGGGCA977655856SLC12A3c.2856+16_2856+17insAGGGGGGGGGGG (n.2856+16_2856+17insAGGGGGGGGGGG)
c.2853+16_2853+17insAGGGGGGGGGGG (n.2853+16_2853+17insAGGGGGGGGGGG)
c.2883+16_2883+17insAGGGGGGGGGGG (n.2883+16_2883+17insAGGGGGGGGGGG)
c.2880+16_2880+17insAGGGGGGGGGGG (n.2880+16_2880+17insAGGGGGGGGGGG)
n.287+16_287+17insAGGGGGGGGGGG
 gnomAD v3 gnomAD v4
16g.56902526_56902527insAGGGGGGGGGGGGGCA2633375861SLC12A3c.2856+18_2856+19insAGGGGGGGGGGGGG (n.2856+18_2856+19insAGGGGGGGGGGGGG)
c.2853+18_2853+19insAGGGGGGGGGGGGG (n.2853+18_2853+19insAGGGGGGGGGGGGG)
c.2883+18_2883+19insAGGGGGGGGGGGGG (n.2883+18_2883+19insAGGGGGGGGGGGGG)
c.2880+18_2880+19insAGGGGGGGGGGGGG (n.2880+18_2880+19insAGGGGGGGGGGGGG)
n.287+18_287+19insAGGGGGGGGGGGGG
 gnomAD v4
16g.56902527_56902528insGGGGGGCA2633375859SLC12A3c.2856+19_2856+20insGGGGGG (n.2856+19_2856+20insGGGGGG)
c.2853+19_2853+20insGGGGGG (n.2853+19_2853+20insGGGGGG)
c.2883+19_2883+20insGGGGGG (n.2883+19_2883+20insGGGGGG)
c.2880+19_2880+20insGGGGGG (n.2880+19_2880+20insGGGGGG)
n.287+19_287+20insGGGGGG
 gnomAD v4
16g.56902527_56902528insGGGGGGGCA977655846SLC12A3c.2856+19_2856+20insGGGGGGG (n.2856+19_2856+20insGGGGGGG)
c.2853+19_2853+20insGGGGGGG (n.2853+19_2853+20insGGGGGGG)
c.2883+19_2883+20insGGGGGGG (n.2883+19_2883+20insGGGGGGG)
c.2880+19_2880+20insGGGGGGG (n.2880+19_2880+20insGGGGGGG)
n.287+19_287+20insGGGGGGG
 gnomAD v3 gnomAD v4
16g.56902527_56902528insGGGGGGGGCA977655851SLC12A3c.2856+19_2856+20insGGGGGGGG (n.2856+19_2856+20insGGGGGGGG)
c.2853+19_2853+20insGGGGGGGG (n.2853+19_2853+20insGGGGGGGG)
c.2883+19_2883+20insGGGGGGGG (n.2883+19_2883+20insGGGGGGGG)
c.2880+19_2880+20insGGGGGGGG (n.2880+19_2880+20insGGGGGGGG)
n.287+19_287+20insGGGGGGGG
 gnomAD v3 gnomAD v4
16g.56902527_56902528insGGGGGGGGGCA2633375855SLC12A3c.2856+19_2856+20insGGGGGGGGG (n.2856+19_2856+20insGGGGGGGGG)
c.2853+19_2853+20insGGGGGGGGG (n.2853+19_2853+20insGGGGGGGGG)
c.2883+19_2883+20insGGGGGGGGG (n.2883+19_2883+20insGGGGGGGGG)
c.2880+19_2880+20insGGGGGGGGG (n.2880+19_2880+20insGGGGGGGGG)
n.287+19_287+20insGGGGGGGGG
 gnomAD v4
16g.56902527_56902528insGGGGGGGGGGCA622341890SLC12A3c.2856+19_2856+20insGGGGGGGGGG (n.2856+19_2856+20insGGGGGGGGGG)
c.2853+19_2853+20insGGGGGGGGGG (n.2853+19_2853+20insGGGGGGGGGG)
c.2883+19_2883+20insGGGGGGGGGG (n.2883+19_2883+20insGGGGGGGGGG)
c.2880+19_2880+20insGGGGGGGGGG (n.2880+19_2880+20insGGGGGGGGGG)
n.287+19_287+20insGGGGGGGGGG
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56902527_56902528insGGGGGGGGGGGCA2633375852SLC12A3c.2856+19_2856+20insGGGGGGGGGGG (n.2856+19_2856+20insGGGGGGGGGGG)
c.2853+19_2853+20insGGGGGGGGGGG (n.2853+19_2853+20insGGGGGGGGGGG)
c.2883+19_2883+20insGGGGGGGGGGG (n.2883+19_2883+20insGGGGGGGGGGG)
c.2880+19_2880+20insGGGGGGGGGGG (n.2880+19_2880+20insGGGGGGGGGGG)
n.287+19_287+20insGGGGGGGGGGG
 gnomAD v4
16g.56902527_56902528insGGGGGGGGGGGGCA622341891SLC12A3c.2856+19_2856+20insGGGGGGGGGGGG (n.2856+19_2856+20insGGGGGGGGGGGG)
c.2853+19_2853+20insGGGGGGGGGGGG (n.2853+19_2853+20insGGGGGGGGGGGG)
c.2883+19_2883+20insGGGGGGGGGGGG (n.2883+19_2883+20insGGGGGGGGGGGG)
c.2880+19_2880+20insGGGGGGGGGGGG (n.2880+19_2880+20insGGGGGGGGGGGG)
n.287+19_287+20insGGGGGGGGGGGG
 gnomAD v2 gnomAD v3 gnomAD v4
16g.56902527_56902528insGGGGGGGGGGGGGGCA2633375851SLC12A3c.2856+19_2856+20insGGGGGGGGGGGGGG (n.2856+19_2856+20insGGGGGGGGGGGGGG)
c.2853+19_2853+20insGGGGGGGGGGGGGG (n.2853+19_2853+20insGGGGGGGGGGGGGG)
c.2883+19_2883+20insGGGGGGGGGGGGGG (n.2883+19_2883+20insGGGGGGGGGGGGGG)
c.2880+19_2880+20insGGGGGGGGGGGGGG (n.2880+19_2880+20insGGGGGGGGGGGGGG)
n.287+19_287+20insGGGGGGGGGGGGGG
 gnomAD v4
16g.56902527_56902528insAGGGAGGGGGGGGGGCA2633375860SLC12A3c.2856+19_2856+20insAGGGAGGGGGGGGGG (n.2856+19_2856+20insAGGGAGGGGGGGGGG)
c.2853+19_2853+20insAGGGAGGGGGGGGGG (n.2853+19_2853+20insAGGGAGGGGGGGGGG)
c.2883+19_2883+20insAGGGAGGGGGGGGGG (n.2883+19_2883+20insAGGGAGGGGGGGGGG)
c.2880+19_2880+20insAGGGAGGGGGGGGGG (n.2880+19_2880+20insAGGGAGGGGGGGGGG)
n.287+19_287+20insAGGGAGGGGGGGGGG
 gnomAD v4
16g.56902527_56902528insGGGGAGGGGGGGGGGCA977655848SLC12A3c.2856+19_2856+20insGGGGAGGGGGGGGGG (n.2856+19_2856+20insGGGGAGGGGGGGGGG)
c.2853+19_2853+20insGGGGAGGGGGGGGGG (n.2853+19_2853+20insGGGGAGGGGGGGGGG)
c.2883+19_2883+20insGGGGAGGGGGGGGGG (n.2883+19_2883+20insGGGGAGGGGGGGGGG)
c.2880+19_2880+20insGGGGAGGGGGGGGGG (n.2880+19_2880+20insGGGGAGGGGGGGGGG)
n.287+19_287+20insGGGGAGGGGGGGGGG
 gnomAD v3 gnomAD v4
16g.56902527_56902528insGGGGGGGGGGGGGGGCA2807160639SLC12A3c.2856+19_2856+20insGGGGGGGGGGGGGGG (n.2856+19_2856+20insGGGGGGGGGGGGGGG)
c.2853+19_2853+20insGGGGGGGGGGGGGGG (n.2853+19_2853+20insGGGGGGGGGGGGGGG)
c.2883+19_2883+20insGGGGGGGGGGGGGGG (n.2883+19_2883+20insGGGGGGGGGGGGGGG)
c.2880+19_2880+20insGGGGGGGGGGGGGGG (n.2880+19_2880+20insGGGGGGGGGGGGGGG)
n.287+19_287+20insGGGGGGGGGGGGGGG
16g.56902527_56902528insGGAGGGGGGGGGGGGGGCA2633375857SLC12A3c.2856+19_2856+20insGGAGGGGGGGGGGGGGG (n.2856+19_2856+20insGGAGGGGGGGGGGGGGG)
c.2853+19_2853+20insGGAGGGGGGGGGGGGGG (n.2853+19_2853+20insGGAGGGGGGGGGGGGGG)
c.2883+19_2883+20insGGAGGGGGGGGGGGGGG (n.2883+19_2883+20insGGAGGGGGGGGGGGGGG)
c.2880+19_2880+20insGGAGGGGGGGGGGGGGG (n.2880+19_2880+20insGGAGGGGGGGGGGGGGG)
n.287+19_287+20insGGAGGGGGGGGGGGGGG
 gnomAD v4
16g.56902527_56902528insGGGGGGGGGGGGGGGGGGCA977655847SLC12A3c.2856+19_2856+20insGGGGGGGGGGGGGGGGGG (n.2856+19_2856+20insGGGGGGGGGGGGGGGGGG)
c.2853+19_2853+20insGGGGGGGGGGGGGGGGGG (n.2853+19_2853+20insGGGGGGGGGGGGGGGGGG)
c.2883+19_2883+20insGGGGGGGGGGGGGGGGGG (n.2883+19_2883+20insGGGGGGGGGGGGGGGGGG)
c.2880+19_2880+20insGGGGGGGGGGGGGGGGGG (n.2880+19_2880+20insGGGGGGGGGGGGGGGGGG)
n.287+19_287+20insGGGGGGGGGGGGGGGGGG
 gnomAD v3 gnomAD v4
16g.56902527_56902528insGGGGGGGGGGGGGGGGGGGGCA2633375849SLC12A3c.2856+19_2856+20insGGGGGGGGGGGGGGGGGGGG (n.2856+19_2856+20insGGGGGGGGGGGGGGGGGGGG)
c.2853+19_2853+20insGGGGGGGGGGGGGGGGGGGG (n.2853+19_2853+20insGGGGGGGGGGGGGGGGGGGG)
c.2883+19_2883+20insGGGGGGGGGGGGGGGGGGGG (n.2883+19_2883+20insGGGGGGGGGGGGGGGGGGGG)
c.2880+19_2880+20insGGGGGGGGGGGGGGGGGGGG (n.2880+19_2880+20insGGGGGGGGGGGGGGGGGGGG)
n.287+19_287+20insGGGGGGGGGGGGGGGGGGGG
 gnomAD v4
16g.56902527dupCA281519868SLC12A3c.2856+19dup (n.2856+19dup)
c.2853+19dup (n.2853+19dup)
c.2883+19dup (n.2883+19dup)
c.2880+19dup (n.2880+19dup)
n.287+19dup
 dbSNP gnomAD v4
16g.56902525_56902527dupCA2633375862SLC12A3c.2856+17_2856+19dup (n.2856+17_2856+19dup)
c.2853+17_2853+19dup (n.2853+17_2853+19dup)
c.2883+17_2883+19dup (n.2883+17_2883+19dup)
c.2880+17_2880+19dup (n.2880+17_2880+19dup)
n.287+17_287+19dup
 gnomAD v4
16g.56902524_56902527dupCA2566444162SLC12A3c.2856+16_2856+19dup (n.2856+16_2856+19dup)
c.2853+16_2853+19dup (n.2853+16_2853+19dup)
c.2883+16_2883+19dup (n.2883+16_2883+19dup)
c.2880+16_2880+19dup (n.2880+16_2880+19dup)
n.287+16_287+19dup
 gnomAD v4
16g.56902523_56902527dupCA977655855SLC12A3c.2856+15_2856+19dup (n.2856+15_2856+19dup)
c.2853+15_2853+19dup (n.2853+15_2853+19dup)
c.2883+15_2883+19dup (n.2883+15_2883+19dup)
c.2880+15_2880+19dup (n.2880+15_2880+19dup)
n.287+15_287+19dup
 gnomAD v3 gnomAD v4
16g.56902527delCA2576002377SLC12A3c.2856+19del (n.2856+19del)
c.2853+19del (n.2853+19del)
c.2883+19del (n.2883+19del)
c.2880+19del (n.2880+19del)
n.287+19del
 gnomAD v4
16g.56902526_56902527delCA2633375848SLC12A3c.2856+18_2856+19del (n.2856+18_2856+19del)
c.2853+18_2853+19del (n.2853+18_2853+19del)
c.2883+18_2883+19del (n.2883+18_2883+19del)
c.2880+18_2880+19del (n.2880+18_2880+19del)
n.287+18_287+19del
 gnomAD v4
16g.56902525_56902527delCA2633375847SLC12A3c.2856+17_2856+19del (n.2856+17_2856+19del)
c.2853+17_2853+19del (n.2853+17_2853+19del)
c.2883+17_2883+19del (n.2883+17_2883+19del)
c.2880+17_2880+19del (n.2880+17_2880+19del)
n.287+17_287+19del
 gnomAD v4
16g.56902523_56902531delCA2633375846SLC12A3c.2856+15_2856+23del (n.2856+15_2856+23del)
c.2853+15_2853+23del (n.2853+15_2853+23del)
c.2883+15_2883+23del (n.2883+15_2883+23del)
c.2880+15_2880+23del (n.2880+15_2880+23del)
n.287+15_287+23del
 gnomAD v4
16g.56902523_56902524insTCA2633375867SLC12A3c.2856+15_2856+16insT (n.2856+15_2856+16insT)
c.2853+15_2853+16insT (n.2853+15_2853+16insT)
c.2883+15_2883+16insT (n.2883+15_2883+16insT)
c.2880+15_2880+16insT (n.2880+15_2880+16insT)
n.287+15_287+16insT
 gnomAD v4
16g.56902524G>ACA2633375866SLC12A3c.2856+16G>A (n.2856+16G>A)
c.2853+16G>A (n.2853+16G>A)
c.2883+16G>A (n.2883+16G>A)
c.2880+16G>A (n.2880+16G>A)
n.287+16G>A
 gnomAD v4
16g.56902524G>CCA2224364869SLC12A3c.2856+16G>C (n.2856+16G>C)
c.2853+16G>C (n.2853+16G>C)
c.2883+16G>C (n.2883+16G>C)
c.2880+16G>C (n.2880+16G>C)
n.287+16G>C
 dbSNP
16g.56902524G=CA2224364870SLC12A3c.2856+16G= (n.2856+16G=)
c.2853+16G= (n.2853+16G=)
c.2883+16G= (n.2883+16G=)
c.2880+16G= (n.2880+16G=)
n.287+16G=
16g.56902524G>TCA2633375865SLC12A3c.2856+16G>T (n.2856+16G>T)
c.2853+16G>T (n.2853+16G>T)
c.2883+16G>T (n.2883+16G>T)
c.2880+16G>T (n.2880+16G>T)
n.287+16G>T
 gnomAD v4
16g.56902527_56902531delCA2576002378SLC12A3c.2856+19_2856+23del (n.2856+19_2856+23del)
c.2853+19_2853+23del (n.2853+19_2853+23del)
c.2883+19_2883+23del (n.2883+19_2883+23del)
c.2880+19_2880+23del (n.2880+19_2880+23del)
n.287+19_287+23del
 gnomAD v4
16g.56902525G>ACA2576002379SLC12A3c.2856+17G>A (n.2856+17G>A)
c.2853+17G>A (n.2853+17G>A)
c.2883+17G>A (n.2883+17G>A)
c.2880+17G>A (n.2880+17G>A)
n.287+17G>A
 gnomAD v4
16g.56902525G>CCA2739266775SLC12A3c.2856+17G>C (n.2856+17G>C)
c.2853+17G>C (n.2853+17G>C)
c.2883+17G>C (n.2883+17G>C)
c.2880+17G>C (n.2880+17G>C)
n.287+17G>C
 ClinVar
16g.56902525G>TCA2633375870SLC12A3c.2856+17G>T (n.2856+17G>T)
c.2853+17G>T (n.2853+17G>T)
c.2883+17G>T (n.2883+17G>T)
c.2880+17G>T (n.2880+17G>T)
n.287+17G>T
 gnomAD v4
16g.56902528_56902531delCA2633375869SLC12A3c.2856+20_2856+23del (n.2856+20_2856+23del)
c.2853+20_2853+23del (n.2853+20_2853+23del)
c.2883+20_2883+23del (n.2883+20_2883+23del)
c.2880+20_2880+23del (n.2880+20_2880+23del)
n.287+20_287+23del
 gnomAD v4
16g.56902526G>ACA2633375872SLC12A3c.2856+18G>A (n.2856+18G>A)
c.2853+18G>A (n.2853+18G>A)
c.2883+18G>A (n.2883+18G>A)
c.2880+18G>A (n.2880+18G>A)
n.287+18G>A
 ClinVar gnomAD v4
16g.56902526G>CCA2633375873SLC12A3c.2856+18G>C (n.2856+18G>C)
c.2853+18G>C (n.2853+18G>C)
c.2883+18G>C (n.2883+18G>C)
c.2880+18G>C (n.2880+18G>C)
n.287+18G>C
 gnomAD v4
16g.56902526G>TCA2633375874SLC12A3c.2856+18G>T (n.2856+18G>T)
c.2853+18G>T (n.2853+18G>T)
c.2883+18G>T (n.2883+18G>T)
c.2880+18G>T (n.2880+18G>T)
n.287+18G>T
 gnomAD v4
16g.56902526_56902528delinsGGTCA2224364871SLC12A3c.2856+18_2856+20delinsGGT (n.2856+18_2856+20delinsGGT)
c.2853+18_2853+20delinsGGT (n.2853+18_2853+20delinsGGT)
c.2883+18_2883+20delinsGGT (n.2883+18_2883+20delinsGGT)
c.2880+18_2880+20delinsGGT (n.2880+18_2880+20delinsGGT)
n.287+18_287+20delinsGGT
16g.56902528_56902530delCA2633375871SLC12A3c.2856+20_2856+22del (n.2856+20_2856+22del)
c.2853+20_2853+22del (n.2853+20_2853+22del)
c.2883+20_2883+22del (n.2883+20_2883+22del)
c.2880+20_2880+22del (n.2880+20_2880+22del)
n.287+20_287+22del
 gnomAD v4
16g.56902527G>ACA2576002381SLC12A3c.2856+19G>A (n.2856+19G>A)
c.2853+19G>A (n.2853+19G>A)
c.2883+19G>A (n.2883+19G>A)
c.2880+19G>A (n.2880+19G>A)
n.287+19G>A
 gnomAD v4
16g.56902527G>CCA2633375876SLC12A3c.2856+19G>C (n.2856+19G>C)
c.2853+19G>C (n.2853+19G>C)
c.2883+19G>C (n.2883+19G>C)
c.2880+19G>C (n.2880+19G>C)
n.287+19G>C
 gnomAD v4
16g.56902527G>TCA2633375875SLC12A3c.2856+19G>T (n.2856+19G>T)
c.2853+19G>T (n.2853+19G>T)
c.2883+19G>T (n.2883+19G>T)
c.2880+19G>T (n.2880+19G>T)
n.287+19G>T
 gnomAD v4
16g.56902528_56902529delCA2224364872SLC12A3c.2856+20_2856+21del (n.2856+20_2856+21del)
c.2853+20_2853+21del (n.2853+20_2853+21del)
c.2883+20_2883+21del (n.2883+20_2883+21del)
c.2880+20_2880+21del (n.2880+20_2880+21del)
n.287+20_287+21del
 dbSNP gnomAD v4
16g.56902527_56902532delCA2576002380SLC12A3c.2856+19_2856+24del (n.2856+19_2856+24del)
c.2853+19_2853+24del (n.2853+19_2853+24del)
c.2883+19_2883+24del (n.2883+19_2883+24del)
c.2880+19_2880+24del (n.2880+19_2880+24del)
n.287+19_287+24del
 gnomAD v4
16g.56902528delCA2633375881SLC12A3c.2856+20del (n.2856+20del)
c.2853+20del (n.2853+20del)
c.2883+20del (n.2883+20del)
c.2880+20del (n.2880+20del)
n.287+20del
 gnomAD v4
16g.56902528T>ACA977655859SLC12A3c.2856+20T>A (n.2856+20T>A)
c.2853+20T>A (n.2853+20T>A)
c.2883+20T>A (n.2883+20T>A)
c.2880+20T>A (n.2880+20T>A)
n.287+20T>A
 gnomAD v3 gnomAD v4
16g.56902528T>CCA2633375882SLC12A3c.2856+20T>C (n.2856+20T>C)
c.2853+20T>C (n.2853+20T>C)
c.2883+20T>C (n.2883+20T>C)
c.2880+20T>C (n.2880+20T>C)
n.287+20T>C
 gnomAD v4
16g.56902528T>GCA622341893SLC12A3c.2856+20T>G (n.2856+20T>G)
c.2853+20T>G (n.2853+20T>G)
c.2883+20T>G (n.2883+20T>G)
c.2880+20T>G (n.2880+20T>G)
n.287+20T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56902528T=CA2224364873SLC12A3c.2856+20T= (n.2856+20T=)
c.2853+20T= (n.2853+20T=)
c.2883+20T= (n.2883+20T=)
c.2880+20T= (n.2880+20T=)
n.287+20T=

Number of alleles fetched