Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.143351795T>ACA369653827CLCN1c.2797T>A (p.Ser933Thr)
n.2737T>A
c.2821T>A (p.Ser941Thr)
c.1543T>A (p.Ser515Thr)
c.2371T>A (p.Ser791Thr)
c.2347T>A (p.Ser783Thr)
n.2752T>A
7g.143351795T>CCA369653828CLCN1c.2797T>C (p.Ser933Pro)
n.2737T>C
c.2821T>C (p.Ser941Pro)
c.1543T>C (p.Ser515Pro)
c.2371T>C (p.Ser791Pro)
c.2347T>C (p.Ser783Pro)
n.2752T>C
7g.143351795T>GCA369653829CLCN1c.2797T>G (p.Ser933Ala)
n.2737T>G
c.2821T>G (p.Ser941Ala)
c.1543T>G (p.Ser515Ala)
c.2371T>G (p.Ser791Ala)
c.2347T>G (p.Ser783Ala)
n.2752T>G
7g.143351796C>ACA369653830CLCN1c.2798C>A (p.Ser933Tyr)
n.2738C>A
c.2822C>A (p.Ser941Tyr)
c.1544C>A (p.Ser515Tyr)
c.2372C>A (p.Ser791Tyr)
c.2348C>A (p.Ser783Tyr)
n.2753C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.143351796C=CA1748898337CLCN1c.2798C= (p.Ser933=)
n.2738C=
c.2822C= (p.Ser941=)
c.1544C= (p.Ser515=)
c.2372C= (p.Ser791=)
c.2348C= (p.Ser783=)
n.2753C=
7g.143351796C>GCA369653832CLCN1c.2798C>G (p.Ser933Cys)
n.2738C>G
c.2822C>G (p.Ser941Cys)
c.1544C>G (p.Ser515Cys)
c.2372C>G (p.Ser791Cys)
c.2348C>G (p.Ser783Cys)
n.2753C>G
 gnomAD v4
7g.143351796C>TCA369653831CLCN1c.2798C>T (p.Ser933Phe)
n.2738C>T
c.2822C>T (p.Ser941Phe)
c.1544C>T (p.Ser515Phe)
c.2372C>T (p.Ser791Phe)
c.2348C>T (p.Ser783Phe)
n.2753C>T
 gnomAD v4
7g.143351797T>ACA458542339CLCN1c.2799T>A (p.Ser933=)
n.2739T>A
c.2823T>A (p.Ser941=)
c.1545T>A (p.Ser515=)
c.2373T>A (p.Ser791=)
c.2349T>A (p.Ser783=)
n.2754T>A
7g.143351797T>CCA458542340CLCN1c.2799T>C (p.Ser933=)
n.2739T>C
c.2823T>C (p.Ser941=)
c.1545T>C (p.Ser515=)
c.2373T>C (p.Ser791=)
c.2349T>C (p.Ser783=)
n.2754T>C
7g.143351797T>GCA458542341CLCN1c.2799T>G (p.Ser933=)
n.2739T>G
c.2823T>G (p.Ser941=)
c.1545T>G (p.Ser515=)
c.2373T>G (p.Ser791=)
c.2349T>G (p.Ser783=)
n.2754T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351797T=CA1748898338CLCN1c.2799T= (p.Ser933=)
n.2739T=
c.2823T= (p.Ser941=)
c.1545T= (p.Ser515=)
c.2373T= (p.Ser791=)
c.2349T= (p.Ser783=)
n.2754T=
7g.143351798C>ACA369653833CLCN1c.2800C>A (p.Pro934Thr)
n.2740C>A
c.2824C>A (p.Pro942Thr)
c.1546C>A (p.Pro516Thr)
c.2374C>A (p.Pro792Thr)
c.2350C>A (p.Pro784Thr)
n.2755C>A
7g.143351798C=CA1748898339CLCN1c.2800C= (p.Pro934=)
n.2740C=
c.2824C= (p.Pro942=)
c.1546C= (p.Pro516=)
c.2374C= (p.Pro792=)
c.2350C= (p.Pro784=)
n.2755C=
7g.143351798C>GCA369653834CLCN1c.2800C>G (p.Pro934Ala)
n.2740C>G
c.2824C>G (p.Pro942Ala)
c.1546C>G (p.Pro516Ala)
c.2374C>G (p.Pro792Ala)
c.2350C>G (p.Pro784Ala)
n.2755C>G
7g.143351798C>TCA369653835CLCN1c.2800C>T (p.Pro934Ser)
n.2740C>T
c.2824C>T (p.Pro942Ser)
c.1546C>T (p.Pro516Ser)
c.2374C>T (p.Pro792Ser)
c.2350C>T (p.Pro784Ser)
n.2755C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.143351799C>ACA369653836CLCN1c.2801C>A (p.Pro934His)
n.2741C>A
c.2825C>A (p.Pro942His)
c.1547C>A (p.Pro516His)
c.2375C>A (p.Pro792His)
c.2351C>A (p.Pro784His)
n.2756C>A
7g.143351799C>GCA369653837CLCN1c.2801C>G (p.Pro934Arg)
n.2741C>G
c.2825C>G (p.Pro942Arg)
c.1547C>G (p.Pro516Arg)
c.2375C>G (p.Pro792Arg)
c.2351C>G (p.Pro784Arg)
n.2756C>G
7g.143351799C>TCA369653838CLCN1c.2801C>T (p.Pro934Leu)
n.2741C>T
c.2825C>T (p.Pro942Leu)
c.1547C>T (p.Pro516Leu)
c.2375C>T (p.Pro792Leu)
c.2351C>T (p.Pro784Leu)
n.2756C>T
7g.143351800T>ACA458542345CLCN1c.2802T>A (p.Pro934=)
n.2742T>A
c.2826T>A (p.Pro942=)
c.1548T>A (p.Pro516=)
c.2376T>A (p.Pro792=)
c.2352T>A (p.Pro784=)
n.2757T>A
7g.143351800T>CCA458542346CLCN1c.2802T>C (p.Pro934=)
n.2742T>C
c.2826T>C (p.Pro942=)
c.1548T>C (p.Pro516=)
c.2376T>C (p.Pro792=)
c.2352T>C (p.Pro784=)
n.2757T>C
7g.143351800T>GCA458542347CLCN1c.2802T>G (p.Pro934=)
n.2742T>G
c.2826T>G (p.Pro942=)
c.1548T>G (p.Pro516=)
c.2376T>G (p.Pro792=)
c.2352T>G (p.Pro784=)
n.2757T>G
 dbSNP
7g.143351801T>ACA369653839CLCN1c.2803T>A (p.Ser935Thr)
n.2743T>A
c.2827T>A (p.Ser943Thr)
c.1549T>A (p.Ser517Thr)
c.2377T>A (p.Ser793Thr)
c.2353T>A (p.Ser785Thr)
n.2758T>A
7g.143351801T>CCA369653840CLCN1c.2803T>C (p.Ser935Pro)
n.2743T>C
c.2827T>C (p.Ser943Pro)
c.1549T>C (p.Ser517Pro)
c.2377T>C (p.Ser793Pro)
c.2353T>C (p.Ser785Pro)
n.2758T>C
 ClinVar dbSNP
7g.143351801T>GCA369653841CLCN1c.2803T>G (p.Ser935Ala)
n.2743T>G
c.2827T>G (p.Ser943Ala)
c.1549T>G (p.Ser517Ala)
c.2377T>G (p.Ser793Ala)
c.2353T>G (p.Ser785Ala)
n.2758T>G
7g.143351801T=CA1748898340CLCN1c.2803T= (p.Ser935=)
n.2743T=
c.2827T= (p.Ser943=)
c.1549T= (p.Ser517=)
c.2377T= (p.Ser793=)
c.2353T= (p.Ser785=)
n.2758T=
7g.143351802C>ACA369653843CLCN1c.2804C>A (p.Ser935Tyr)
n.2744C>A
c.2828C>A (p.Ser943Tyr)
c.1550C>A (p.Ser517Tyr)
c.2378C>A (p.Ser793Tyr)
c.2354C>A (p.Ser785Tyr)
n.2759C>A
7g.143351802C>GCA369653844CLCN1c.2804C>G (p.Ser935Cys)
n.2744C>G
c.2828C>G (p.Ser943Cys)
c.1550C>G (p.Ser517Cys)
c.2378C>G (p.Ser793Cys)
c.2354C>G (p.Ser785Cys)
n.2759C>G
7g.143351802C>TCA369653842CLCN1c.2804C>T (p.Ser935Phe)
n.2744C>T
c.2828C>T (p.Ser943Phe)
c.1550C>T (p.Ser517Phe)
c.2378C>T (p.Ser793Phe)
c.2354C>T (p.Ser785Phe)
n.2759C>T
7g.143351803C>ACA458542353CLCN1c.2805C>A (p.Ser935=)
n.2745C>A
c.2829C>A (p.Ser943=)
c.1551C>A (p.Ser517=)
c.2379C>A (p.Ser793=)
c.2355C>A (p.Ser785=)
n.2760C>A
7g.143351803C>GCA458542352CLCN1c.2805C>G (p.Ser935=)
n.2745C>G
c.2829C>G (p.Ser943=)
c.1551C>G (p.Ser517=)
c.2379C>G (p.Ser793=)
c.2355C>G (p.Ser785=)
n.2760C>G
7g.143351803C>TCA458542351CLCN1c.2805C>T (p.Ser935=)
n.2745C>T
c.2829C>T (p.Ser943=)
c.1551C>T (p.Ser517=)
c.2379C>T (p.Ser793=)
c.2355C>T (p.Ser785=)
n.2760C>T
 ClinVar dbSNP COSMIC
7g.143351804C>ACA369653845CLCN1c.2806C>A (p.Pro936Thr)
n.2746C>A
c.2830C>A (p.Pro944Thr)
c.1552C>A (p.Pro518Thr)
c.2380C>A (p.Pro794Thr)
c.2356C>A (p.Pro786Thr)
n.2761C>A
 gnomAD v4
7g.143351804C>GCA369653846CLCN1c.2806C>G (p.Pro936Ala)
n.2746C>G
c.2830C>G (p.Pro944Ala)
c.1552C>G (p.Pro518Ala)
c.2380C>G (p.Pro794Ala)
c.2356C>G (p.Pro786Ala)
n.2761C>G
7g.143351804C>TCA369653847CLCN1c.2806C>T (p.Pro936Ser)
n.2746C>T
c.2830C>T (p.Pro944Ser)
c.1552C>T (p.Pro518Ser)
c.2380C>T (p.Pro794Ser)
c.2356C>T (p.Pro786Ser)
n.2761C>T
 dbSNP
7g.143351805C>ACA369653848CLCN1c.2807C>A (p.Pro936Gln)
n.2747C>A
c.2831C>A (p.Pro944Gln)
c.1553C>A (p.Pro518Gln)
c.2381C>A (p.Pro794Gln)
c.2357C>A (p.Pro786Gln)
n.2762C>A
7g.143351805C=CA1748898341CLCN1c.2807C= (p.Pro936=)
n.2747C=
c.2831C= (p.Pro944=)
c.1553C= (p.Pro518=)
c.2381C= (p.Pro794=)
c.2357C= (p.Pro786=)
n.2762C=
7g.143351805C>GCA369653849CLCN1c.2807C>G (p.Pro936Arg)
n.2747C>G
c.2831C>G (p.Pro944Arg)
c.1553C>G (p.Pro518Arg)
c.2381C>G (p.Pro794Arg)
c.2357C>G (p.Pro786Arg)
n.2762C>G
7g.143351805C>TCA4537789CLCN1c.2807C>T (p.Pro936Leu)
n.2747C>T
c.2831C>T (p.Pro944Leu)
c.1553C>T (p.Pro518Leu)
c.2381C>T (p.Pro794Leu)
c.2357C>T (p.Pro786Leu)
n.2762C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351806A>CCA458542357CLCN1c.2808A>C (p.Pro936=)
n.2748A>C
c.2832A>C (p.Pro944=)
c.1554A>C (p.Pro518=)
c.2382A>C (p.Pro794=)
c.2358A>C (p.Pro786=)
n.2763A>C
7g.143351806A>GCA458542358CLCN1c.2808A>G (p.Pro936=)
n.2748A>G
c.2832A>G (p.Pro944=)
c.1554A>G (p.Pro518=)
c.2382A>G (p.Pro794=)
c.2358A>G (p.Pro786=)
n.2763A>G
7g.143351806A>TCA458542359CLCN1c.2808A>T (p.Pro936=)
n.2748A>T
c.2832A>T (p.Pro944=)
c.1554A>T (p.Pro518=)
c.2382A>T (p.Pro794=)
c.2358A>T (p.Pro786=)
n.2763A>T
7g.143351807G>ACA369653852CLCN1c.2809G>A (p.Glu937Lys)
n.2749G>A
c.2833G>A (p.Glu945Lys)
c.1555G>A (p.Glu519Lys)
c.2383G>A (p.Glu795Lys)
c.2359G>A (p.Glu787Lys)
n.2764G>A
7g.143351807G>CCA369653850CLCN1c.2809G>C (p.Glu937Gln)
n.2749G>C
c.2833G>C (p.Glu945Gln)
c.1555G>C (p.Glu519Gln)
c.2383G>C (p.Glu795Gln)
c.2359G>C (p.Glu787Gln)
n.2764G>C
 gnomAD v4
7g.143351807G>TCA369653851CLCN1c.2809G>T (p.Glu937Ter)
n.2749G>T
c.2833G>T (p.Glu945Ter)
c.1555G>T (p.Glu519Ter)
c.2383G>T (p.Glu795Ter)
c.2359G>T (p.Glu787Ter)
n.2764G>T
7g.143351808A>CCA369653853CLCN1c.2810A>C (p.Glu937Ala)
n.2750A>C
c.2834A>C (p.Glu945Ala)
c.1556A>C (p.Glu519Ala)
c.2384A>C (p.Glu795Ala)
c.2360A>C (p.Glu787Ala)
n.2765A>C
7g.143351808A>GCA369653854CLCN1c.2810A>G (p.Glu937Gly)
n.2750A>G
c.2834A>G (p.Glu945Gly)
c.1556A>G (p.Glu519Gly)
c.2384A>G (p.Glu795Gly)
c.2360A>G (p.Glu787Gly)
n.2765A>G
7g.143351808A>TCA369653855CLCN1c.2810A>T (p.Glu937Val)
n.2750A>T
c.2834A>T (p.Glu945Val)
c.1556A>T (p.Glu519Val)
c.2384A>T (p.Glu795Val)
c.2360A>T (p.Glu787Val)
n.2765A>T
7g.143351809G>ACA458542367CLCN1c.2811G>A (p.Glu937=)
n.2751G>A
c.2835G>A (p.Glu945=)
c.1557G>A (p.Glu519=)
c.2385G>A (p.Glu795=)
c.2361G>A (p.Glu787=)
n.2766G>A
 gnomAD v4
7g.143351809G>CCA369653856CLCN1c.2811G>C (p.Glu937Asp)
n.2751G>C
c.2835G>C (p.Glu945Asp)
c.1557G>C (p.Glu519Asp)
c.2385G>C (p.Glu795Asp)
c.2361G>C (p.Glu787Asp)
n.2766G>C
 gnomAD v4
7g.143351809G>TCA369653857CLCN1c.2811G>T (p.Glu937Asp)
n.2751G>T
c.2835G>T (p.Glu945Asp)
c.1557G>T (p.Glu519Asp)
c.2385G>T (p.Glu795Asp)
c.2361G>T (p.Glu787Asp)
n.2766G>T
 ClinVar gnomAD v4
7g.143351809_143351810delinsGCCA1748898342CLCN1c.2811_2812delinsGC (p.Glu937=)
n.2751_2752delinsGC
c.2835_2836delinsGC (p.Glu945=)
c.1557_1558delinsGC (p.Glu519=)
c.2385_2386delinsGC (p.Glu795=)
c.2361_2362delinsGC (p.Glu787=)
n.2766_2767delinsGC
7g.143351810C>ACA369653858CLCN1c.2812C>A (p.Pro938Thr)
n.2752C>A
c.2836C>A (p.Pro946Thr)
c.1558C>A (p.Pro520Thr)
c.2386C>A (p.Pro796Thr)
c.2362C>A (p.Pro788Thr)
n.2767C>A
7g.143351810C=CA1748898343CLCN1c.2812C= (p.Pro938=)
n.2752C=
c.2836C= (p.Pro946=)
c.1558C= (p.Pro520=)
c.2386C= (p.Pro796=)
c.2362C= (p.Pro788=)
n.2767C=
7g.143351810C>GCA369653860CLCN1c.2812C>G (p.Pro938Ala)
n.2752C>G
c.2836C>G (p.Pro946Ala)
c.1558C>G (p.Pro520Ala)
c.2386C>G (p.Pro796Ala)
c.2362C>G (p.Pro788Ala)
n.2767C>G
 gnomAD v4
7g.143351810C>TCA369653859CLCN1c.2812C>T (p.Pro938Ser)
n.2752C>T
c.2836C>T (p.Pro946Ser)
c.1558C>T (p.Pro520Ser)
c.2386C>T (p.Pro796Ser)
c.2362C>T (p.Pro788Ser)
n.2767C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351814delCA458542368CLCN1c.2816del (p.Pro939LeufsTer9)
n.2756del
c.2840del (p.Pro947LeufsTer9)
c.1562del (p.Pro521LeufsTer9)
c.2390del (p.Pro797LeufsTer9)
c.2366del (p.Pro789LeufsTer9)
n.2771del
 dbSNP
7g.143351811C>ACA369653861CLCN1c.2813C>A (p.Pro938His)
n.2753C>A
c.2837C>A (p.Pro946His)
c.1559C>A (p.Pro520His)
c.2387C>A (p.Pro796His)
c.2363C>A (p.Pro788His)
n.2768C>A
7g.143351811C=CA1748898344CLCN1c.2813C= (p.Pro938=)
n.2753C=
c.2837C= (p.Pro946=)
c.1559C= (p.Pro520=)
c.2387C= (p.Pro796=)
c.2363C= (p.Pro788=)
n.2768C=
7g.143351811C>GCA369653862CLCN1c.2813C>G (p.Pro938Arg)
n.2753C>G
c.2837C>G (p.Pro946Arg)
c.1559C>G (p.Pro520Arg)
c.2387C>G (p.Pro796Arg)
c.2363C>G (p.Pro788Arg)
n.2768C>G
7g.143351811C>TCA4537790CLCN1c.2813C>T (p.Pro938Leu)
n.2753C>T
c.2837C>T (p.Pro946Leu)
c.1559C>T (p.Pro520Leu)
c.2387C>T (p.Pro796Leu)
c.2363C>T (p.Pro788Leu)
n.2768C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351812C>ACA458542376CLCN1c.2814C>A (p.Pro938=)
n.2754C>A
c.2838C>A (p.Pro946=)
c.1560C>A (p.Pro520=)
c.2388C>A (p.Pro796=)
c.2364C>A (p.Pro788=)
n.2769C>A
7g.143351812C>GCA458542377CLCN1c.2814C>G (p.Pro938=)
n.2754C>G
c.2838C>G (p.Pro946=)
c.1560C>G (p.Pro520=)
c.2388C>G (p.Pro796=)
c.2364C>G (p.Pro788=)
n.2769C>G
7g.143351812C>TCA458542378CLCN1c.2814C>T (p.Pro938=)
n.2754C>T
c.2838C>T (p.Pro946=)
c.1560C>T (p.Pro520=)
c.2388C>T (p.Pro796=)
c.2364C>T (p.Pro788=)
n.2769C>T
 ClinVar gnomAD v4
7g.143351813C>ACA369653863CLCN1c.2815C>A (p.Pro939Thr)
n.2755C>A
c.2839C>A (p.Pro947Thr)
c.1561C>A (p.Pro521Thr)
c.2389C>A (p.Pro797Thr)
c.2365C>A (p.Pro789Thr)
n.2770C>A
7g.143351813C=CA1748898345CLCN1c.2815C= (p.Pro939=)
n.2755C=
c.2839C= (p.Pro947=)
c.1561C= (p.Pro521=)
c.2389C= (p.Pro797=)
c.2365C= (p.Pro789=)
n.2770C=
7g.143351813C>GCA4537791CLCN1c.2815C>G (p.Pro939Ala)
n.2755C>G
c.2839C>G (p.Pro947Ala)
c.1561C>G (p.Pro521Ala)
c.2389C>G (p.Pro797Ala)
c.2365C>G (p.Pro789Ala)
n.2770C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351813C>TCA369653864CLCN1c.2815C>T (p.Pro939Ser)
n.2755C>T
c.2839C>T (p.Pro947Ser)
c.1561C>T (p.Pro521Ser)
c.2389C>T (p.Pro797Ser)
c.2365C>T (p.Pro789Ser)
n.2770C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351813_143351815delinsCCTCA1748898346CLCN1c.2815_2817delinsCCT (p.Pro939=)
n.2755_2757delinsCCT
c.2839_2841delinsCCT (p.Pro947=)
c.1561_1563delinsCCT (p.Pro521=)
c.2389_2391delinsCCT (p.Pro797=)
c.2365_2367delinsCCT (p.Pro789=)
n.2770_2772delinsCCT
7g.143351814C>ACA369653865CLCN1c.2816C>A (p.Pro939His)
n.2756C>A
c.2840C>A (p.Pro947His)
c.1562C>A (p.Pro521His)
c.2390C>A (p.Pro797His)
c.2366C>A (p.Pro789His)
n.2771C>A
7g.143351814C=CA1748898347CLCN1c.2816C= (p.Pro939=)
n.2756C=
c.2840C= (p.Pro947=)
c.1562C= (p.Pro521=)
c.2390C= (p.Pro797=)
c.2366C= (p.Pro789=)
n.2771C=
7g.143351814C>GCA369653866CLCN1c.2816C>G (p.Pro939Arg)
n.2756C>G
c.2840C>G (p.Pro947Arg)
c.1562C>G (p.Pro521Arg)
c.2390C>G (p.Pro797Arg)
c.2366C>G (p.Pro789Arg)
n.2771C>G
 dbSNP
7g.143351814C>TCA369653867CLCN1c.2816C>T (p.Pro939Leu)
n.2756C>T
c.2840C>T (p.Pro947Leu)
c.1562C>T (p.Pro521Leu)
c.2390C>T (p.Pro797Leu)
c.2366C>T (p.Pro789Leu)
n.2771C>T
 COSMIC
7g.143351819_143351820delCA834502209CLCN1c.2821_2822del (p.Ser941ProfsTer?)
n.2761_2762del
c.2845_2846del (p.Ser949ProfsTer?)
c.1567_1568del (p.Ser523ProfsTer?)
c.2395_2396del (p.Ser799ProfsTer?)
c.2371_2372del (p.Ser791ProfsTer?)
n.2776_2777del
 ClinVar dbSNP gnomAD v4
7g.143351815T>ACA458542385CLCN1c.2817T>A (p.Pro939=)
n.2757T>A
c.2841T>A (p.Pro947=)
c.1563T>A (p.Pro521=)
c.2391T>A (p.Pro797=)
c.2367T>A (p.Pro789=)
n.2772T>A
7g.143351815T>CCA458542386CLCN1c.2817T>C (p.Pro939=)
n.2757T>C
c.2841T>C (p.Pro947=)
c.1563T>C (p.Pro521=)
c.2391T>C (p.Pro797=)
c.2367T>C (p.Pro789=)
n.2772T>C
 gnomAD v4
7g.143351815T>GCA458542387CLCN1c.2817T>G (p.Pro939=)
n.2757T>G
c.2841T>G (p.Pro947=)
c.1563T>G (p.Pro521=)
c.2391T>G (p.Pro797=)
c.2367T>G (p.Pro789=)
n.2772T>G
7g.143351816C>ACA369653868CLCN1c.2818C>A (p.Leu940Ile)
n.2758C>A
c.2842C>A (p.Leu948Ile)
c.1564C>A (p.Leu522Ile)
c.2392C>A (p.Leu798Ile)
c.2368C>A (p.Leu790Ile)
n.2773C>A
7g.143351816C=CA1748898348CLCN1c.2818C= (p.Leu940=)
n.2758C=
c.2842C= (p.Leu948=)
c.1564C= (p.Leu522=)
c.2392C= (p.Leu798=)
c.2368C= (p.Leu790=)
n.2773C=
7g.143351816C>GCA4537792CLCN1c.2818C>G (p.Leu940Val)
n.2758C>G
c.2842C>G (p.Leu948Val)
c.1564C>G (p.Leu522Val)
c.2392C>G (p.Leu798Val)
c.2368C>G (p.Leu790Val)
n.2773C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351816C>TCA369653869CLCN1c.2818C>T (p.Leu940Phe)
n.2758C>T
c.2842C>T (p.Leu948Phe)
c.1564C>T (p.Leu522Phe)
c.2392C>T (p.Leu798Phe)
c.2368C>T (p.Leu790Phe)
n.2773C>T
 COSMIC
7g.143351817T>ACA369653871CLCN1c.2819T>A (p.Leu940His)
n.2759T>A
c.2843T>A (p.Leu948His)
c.1565T>A (p.Leu522His)
c.2393T>A (p.Leu798His)
c.2369T>A (p.Leu790His)
n.2774T>A
 gnomAD v4
7g.143351817T>CCA369653872CLCN1c.2819T>C (p.Leu940Pro)
n.2759T>C
c.2843T>C (p.Leu948Pro)
c.1565T>C (p.Leu522Pro)
c.2393T>C (p.Leu798Pro)
c.2369T>C (p.Leu790Pro)
n.2774T>C
7g.143351817T>GCA369653870CLCN1c.2819T>G (p.Leu940Arg)
n.2759T>G
c.2843T>G (p.Leu948Arg)
c.1565T>G (p.Leu522Arg)
c.2393T>G (p.Leu798Arg)
c.2369T>G (p.Leu790Arg)
n.2774T>G
7g.143351818C>ACA458542393CLCN1c.2820C>A (p.Leu940=)
n.2760C>A
c.2844C>A (p.Leu948=)
c.1566C>A (p.Leu522=)
c.2394C>A (p.Leu798=)
c.2370C>A (p.Leu790=)
n.2775C>A
7g.143351818C>GCA458542395CLCN1c.2820C>G (p.Leu940=)
n.2760C>G
c.2844C>G (p.Leu948=)
c.1566C>G (p.Leu522=)
c.2394C>G (p.Leu798=)
c.2370C>G (p.Leu790=)
n.2775C>G
7g.143351818C>TCA458542396CLCN1c.2820C>T (p.Leu940=)
n.2760C>T
c.2844C>T (p.Leu948=)
c.1566C>T (p.Leu522=)
c.2394C>T (p.Leu798=)
c.2370C>T (p.Leu790=)
n.2775C>T
 gnomAD v4
7g.143351819T>ACA369653873CLCN1c.2821T>A (p.Ser941Thr)
n.2761T>A
c.2845T>A (p.Ser949Thr)
c.1567T>A (p.Ser523Thr)
c.2395T>A (p.Ser799Thr)
c.2371T>A (p.Ser791Thr)
n.2776T>A
7g.143351819T>CCA369653874CLCN1c.2821T>C (p.Ser941Pro)
n.2761T>C
c.2845T>C (p.Ser949Pro)
c.1567T>C (p.Ser523Pro)
c.2395T>C (p.Ser799Pro)
c.2371T>C (p.Ser791Pro)
n.2776T>C
7g.143351819T>GCA369653875CLCN1c.2821T>G (p.Ser941Ala)
n.2761T>G
c.2845T>G (p.Ser949Ala)
c.1567T>G (p.Ser523Ala)
c.2395T>G (p.Ser799Ala)
c.2371T>G (p.Ser791Ala)
n.2776T>G
7g.143351820C>ACA369653876CLCN1c.2822C>A (p.Ser941Tyr)
n.2762C>A
c.2846C>A (p.Ser949Tyr)
c.1568C>A (p.Ser523Tyr)
c.2396C>A (p.Ser799Tyr)
c.2372C>A (p.Ser791Tyr)
n.2777C>A
7g.143351820C=CA1748898349CLCN1c.2822C= (p.Ser941=)
n.2762C=
c.2846C= (p.Ser949=)
c.1568C= (p.Ser523=)
c.2396C= (p.Ser799=)
c.2372C= (p.Ser791=)
n.2777C=
7g.143351820C>GCA369653877CLCN1c.2822C>G (p.Ser941Cys)
n.2762C>G
c.2846C>G (p.Ser949Cys)
c.1568C>G (p.Ser523Cys)
c.2396C>G (p.Ser799Cys)
c.2372C>G (p.Ser791Cys)
n.2777C>G
 dbSNP gnomAD v3 gnomAD v4
7g.143351820C>TCA4537793CLCN1c.2822C>T (p.Ser941Phe)
n.2762C>T
c.2846C>T (p.Ser949Phe)
c.1568C>T (p.Ser523Phe)
c.2396C>T (p.Ser799Phe)
c.2372C>T (p.Ser791Phe)
n.2777C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.143351821C>ACA458542400CLCN1c.2823C>A (p.Ser941=)
n.2763C>A
c.2847C>A (p.Ser949=)
c.1569C>A (p.Ser523=)
c.2397C>A (p.Ser799=)
c.2373C>A (p.Ser791=)
n.2778C>A
7g.143351821C>GCA458542401CLCN1c.2823C>G (p.Ser941=)
n.2763C>G
c.2847C>G (p.Ser949=)
c.1569C>G (p.Ser523=)
c.2397C>G (p.Ser799=)
c.2373C>G (p.Ser791=)
n.2778C>G
7g.143351821C>TCA458542402CLCN1c.2823C>T (p.Ser941=)
n.2763C>T
c.2847C>T (p.Ser949=)
c.1569C>T (p.Ser523=)
c.2397C>T (p.Ser799=)
c.2373C>T (p.Ser791=)
n.2778C>T
 gnomAD v4 COSMIC
7g.143351822C>ACA369653879CLCN1c.2824C>A (p.Leu942Met)
n.2764C>A
c.2848C>A (p.Leu950Met)
c.1570C>A (p.Leu524Met)
c.2398C>A (p.Leu800Met)
c.2374C>A (p.Leu792Met)
n.2779C>A
7g.143351822C>GCA369653878CLCN1c.2824C>G (p.Leu942Val)
n.2764C>G
c.2848C>G (p.Leu950Val)
c.1570C>G (p.Leu524Val)
c.2398C>G (p.Leu800Val)
c.2374C>G (p.Leu792Val)
n.2779C>G
7g.143351822C>TCA458542404CLCN1c.2824C>T (p.Leu942=)
n.2764C>T
c.2848C>T (p.Leu950=)
c.1570C>T (p.Leu524=)
c.2398C>T (p.Leu800=)
c.2374C>T (p.Leu792=)
n.2779C>T
7g.143351823T>ACA369653880CLCN1c.2825T>A (p.Leu942Gln)
n.2765T>A
c.2849T>A (p.Leu950Gln)
c.1571T>A (p.Leu524Gln)
c.2399T>A (p.Leu800Gln)
c.2375T>A (p.Leu792Gln)
n.2780T>A
 dbSNP gnomAD v4
7g.143351823T>CCA369653881CLCN1c.2825T>C (p.Leu942Pro)
n.2765T>C
c.2849T>C (p.Leu950Pro)
c.1571T>C (p.Leu524Pro)
c.2399T>C (p.Leu800Pro)
c.2375T>C (p.Leu792Pro)
n.2780T>C
7g.143351823T>GCA369653882CLCN1c.2825T>G (p.Leu942Arg)
n.2765T>G
c.2849T>G (p.Leu950Arg)
c.1571T>G (p.Leu524Arg)
c.2399T>G (p.Leu800Arg)
c.2375T>G (p.Leu792Arg)
n.2780T>G
7g.143351823T=CA1748898350CLCN1c.2825T= (p.Leu942=)
n.2765T=
c.2849T= (p.Leu950=)
c.1571T= (p.Leu524=)
c.2399T= (p.Leu800=)
c.2375T= (p.Leu792=)
n.2780T=
7g.143351824G>ACA458542407CLCN1c.2826G>A (p.Leu942=)
n.2766G>A
c.2850G>A (p.Leu950=)
c.1572G>A (p.Leu524=)
c.2400G>A (p.Leu800=)
c.2376G>A (p.Leu792=)
n.2781G>A
 COSMIC
7g.143351824G>CCA458542405CLCN1c.2826G>C (p.Leu942=)
n.2766G>C
c.2850G>C (p.Leu950=)
c.1572G>C (p.Leu524=)
c.2400G>C (p.Leu800=)
c.2376G>C (p.Leu792=)
n.2781G>C
7g.143351824G>TCA458542406CLCN1c.2826G>T (p.Leu942=)
n.2766G>T
c.2850G>T (p.Leu950=)
c.1572G>T (p.Leu524=)
c.2400G>T (p.Leu800=)
c.2376G>T (p.Leu792=)
n.2781G>T
7g.143351825G>ACA369653883CLCN1c.2827G>A (p.Ala943Thr)
n.2767G>A
c.2851G>A (p.Ala951Thr)
c.1573G>A (p.Ala525Thr)
c.2401G>A (p.Ala801Thr)
c.2377G>A (p.Ala793Thr)
n.2782G>A
7g.143351825G>CCA369653884CLCN1c.2827G>C (p.Ala943Pro)
n.2767G>C
c.2851G>C (p.Ala951Pro)
c.1573G>C (p.Ala525Pro)
c.2401G>C (p.Ala801Pro)
c.2377G>C (p.Ala793Pro)
n.2782G>C
7g.143351825G=CA1748898351CLCN1c.2827G= (p.Ala943=)
n.2767G=
c.2851G= (p.Ala951=)
c.1573G= (p.Ala525=)
c.2401G= (p.Ala801=)
c.2377G= (p.Ala793=)
n.2782G=
7g.143351825G>TCA369653885CLCN1c.2827G>T (p.Ala943Ser)
n.2767G>T
c.2851G>T (p.Ala951Ser)
c.1573G>T (p.Ala525Ser)
c.2401G>T (p.Ala801Ser)
c.2377G>T (p.Ala793Ser)
n.2782G>T
7g.143351826C>ACA369653888CLCN1c.2828C>A (p.Ala943Asp)
n.2768C>A
c.2852C>A (p.Ala951Asp)
c.1574C>A (p.Ala525Asp)
c.2402C>A (p.Ala801Asp)
c.2378C>A (p.Ala793Asp)
n.2783C>A
 dbSNP gnomAD v2 gnomAD v4
7g.143351826C=CA1748898352CLCN1c.2828C= (p.Ala943=)
n.2768C=
c.2852C= (p.Ala951=)
c.1574C= (p.Ala525=)
c.2402C= (p.Ala801=)
c.2378C= (p.Ala793=)
n.2783C=
7g.143351826C>GCA369653886CLCN1c.2828C>G (p.Ala943Gly)
n.2768C>G
c.2852C>G (p.Ala951Gly)
c.1574C>G (p.Ala525Gly)
c.2402C>G (p.Ala801Gly)
c.2378C>G (p.Ala793Gly)
n.2783C>G
7g.143351826C>TCA369653887CLCN1c.2828C>T (p.Ala943Val)
n.2768C>T
c.2852C>T (p.Ala951Val)
c.1574C>T (p.Ala525Val)
c.2402C>T (p.Ala801Val)
c.2378C>T (p.Ala793Val)
n.2783C>T
 gnomAD v4
7g.143351829dupCA4537794CLCN1c.2831dup (p.Gly945ArgfsTer?)
n.2771dup
c.2855dup (p.Gly953ArgfsTer?)
c.1577dup (p.Gly527ArgfsTer?)
c.2405dup (p.Gly803ArgfsTer?)
c.2381dup (p.Gly795ArgfsTer?)
n.2786dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351827C>ACA458542410CLCN1c.2829C>A (p.Ala943=)
n.2769C>A
c.2853C>A (p.Ala951=)
c.1575C>A (p.Ala525=)
c.2403C>A (p.Ala801=)
c.2379C>A (p.Ala793=)
n.2784C>A
7g.143351827C>GCA458542412CLCN1c.2829C>G (p.Ala943=)
n.2769C>G
c.2853C>G (p.Ala951=)
c.1575C>G (p.Ala525=)
c.2403C>G (p.Ala801=)
c.2379C>G (p.Ala793=)
n.2784C>G
7g.143351827C>TCA458542414CLCN1c.2829C>T (p.Ala943=)
n.2769C>T
c.2853C>T (p.Ala951=)
c.1575C>T (p.Ala525=)
c.2403C>T (p.Ala801=)
c.2379C>T (p.Ala793=)
n.2784C>T
7g.143351828C>ACA369653891CLCN1c.2830C>A (p.Pro944Thr)
n.2770C>A
c.2854C>A (p.Pro952Thr)
c.1576C>A (p.Pro526Thr)
c.2404C>A (p.Pro802Thr)
c.2380C>A (p.Pro794Thr)
n.2785C>A
7g.143351828C>GCA369653892CLCN1c.2830C>G (p.Pro944Ala)
n.2770C>G
c.2854C>G (p.Pro952Ala)
c.1576C>G (p.Pro526Ala)
c.2404C>G (p.Pro802Ala)
c.2380C>G (p.Pro794Ala)
n.2785C>G
 gnomAD v4
7g.143351828C>TCA369653893CLCN1c.2830C>T (p.Pro944Ser)
n.2770C>T
c.2854C>T (p.Pro952Ser)
c.1576C>T (p.Pro526Ser)
c.2404C>T (p.Pro802Ser)
c.2380C>T (p.Pro794Ser)
n.2785C>T
7g.143351829C>ACA369653894CLCN1c.2831C>A (p.Pro944Gln)
n.2771C>A
c.2855C>A (p.Pro952Gln)
c.1577C>A (p.Pro526Gln)
c.2405C>A (p.Pro802Gln)
c.2381C>A (p.Pro794Gln)
n.2786C>A
7g.143351829C=CA1748898353CLCN1c.2831C= (p.Pro944=)
n.2771C=
c.2855C= (p.Pro952=)
c.1577C= (p.Pro526=)
c.2405C= (p.Pro802=)
c.2381C= (p.Pro794=)
n.2786C=
7g.143351829C>GCA369653895CLCN1c.2831C>G (p.Pro944Arg)
n.2771C>G
c.2855C>G (p.Pro952Arg)
c.1577C>G (p.Pro526Arg)
c.2405C>G (p.Pro802Arg)
c.2381C>G (p.Pro794Arg)
n.2786C>G
7g.143351829C>TCA369653896CLCN1c.2831C>T (p.Pro944Leu)
n.2771C>T
c.2855C>T (p.Pro952Leu)
c.1577C>T (p.Pro526Leu)
c.2405C>T (p.Pro802Leu)
c.2381C>T (p.Pro794Leu)
n.2786C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.143351830A=CA1748898354CLCN1c.2832A= (p.Pro944=)
n.2772A=
c.2856A= (p.Pro952=)
c.1578A= (p.Pro526=)
c.2406A= (p.Pro802=)
c.2382A= (p.Pro794=)
n.2787A=
7g.143351830A>CCA4537795CLCN1c.2832A>C (p.Pro944=)
n.2772A>C
c.2856A>C (p.Pro952=)
c.1578A>C (p.Pro526=)
c.2406A>C (p.Pro802=)
c.2382A>C (p.Pro794=)
n.2787A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351830A>GCA458542419CLCN1c.2832A>G (p.Pro944=)
n.2772A>G
c.2856A>G (p.Pro952=)
c.1578A>G (p.Pro526=)
c.2406A>G (p.Pro802=)
c.2382A>G (p.Pro794=)
n.2787A>G
7g.143351830A>TCA458542421CLCN1c.2832A>T (p.Pro944=)
n.2772A>T
c.2856A>T (p.Pro952=)
c.1578A>T (p.Pro526=)
c.2406A>T (p.Pro802=)
c.2382A>T (p.Pro794=)
n.2787A>T
7g.143351831G>ACA4537796CLCN1c.2833G>A (p.Gly945Ser)
n.2773G>A
c.2857G>A (p.Gly953Ser)
c.1579G>A (p.Gly527Ser)
c.2407G>A (p.Gly803Ser)
c.2383G>A (p.Gly795Ser)
n.2788G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351831G>CCA369653897CLCN1c.2833G>C (p.Gly945Arg)
n.2773G>C
c.2857G>C (p.Gly953Arg)
c.1579G>C (p.Gly527Arg)
c.2407G>C (p.Gly803Arg)
c.2383G>C (p.Gly795Arg)
n.2788G>C
7g.143351831G=CA1748898355CLCN1c.2833G= (p.Gly945=)
n.2773G=
c.2857G= (p.Gly953=)
c.1579G= (p.Gly527=)
c.2407G= (p.Gly803=)
c.2383G= (p.Gly795=)
n.2788G=
7g.143351831G>TCA369653898CLCN1c.2833G>T (p.Gly945Cys)
n.2773G>T
c.2857G>T (p.Gly953Cys)
c.1579G>T (p.Gly527Cys)
c.2407G>T (p.Gly803Cys)
c.2383G>T (p.Gly795Cys)
n.2788G>T
7g.143351832G>ACA369653899CLCN1c.2834G>A (p.Gly945Asp)
n.2774G>A
c.2858G>A (p.Gly953Asp)
c.1580G>A (p.Gly527Asp)
c.2408G>A (p.Gly803Asp)
c.2384G>A (p.Gly795Asp)
n.2789G>A
7g.143351832G>CCA369653900CLCN1c.2834G>C (p.Gly945Ala)
n.2774G>C
c.2858G>C (p.Gly953Ala)
c.1580G>C (p.Gly527Ala)
c.2408G>C (p.Gly803Ala)
c.2384G>C (p.Gly795Ala)
n.2789G>C
7g.143351832G=CA1748898356CLCN1c.2834G= (p.Gly945=)
n.2774G=
c.2858G= (p.Gly953=)
c.1580G= (p.Gly527=)
c.2408G= (p.Gly803=)
c.2384G= (p.Gly795=)
n.2789G=
7g.143351832G>TCA4537797CLCN1c.2834G>T (p.Gly945Val)
n.2774G>T
c.2858G>T (p.Gly953Val)
c.1580G>T (p.Gly527Val)
c.2408G>T (p.Gly803Val)
c.2384G>T (p.Gly795Val)
n.2789G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351833C>ACA458542426CLCN1c.2835C>A (p.Gly945=)
n.2775C>A
c.2859C>A (p.Gly953=)
c.1581C>A (p.Gly527=)
c.2409C>A (p.Gly803=)
c.2385C>A (p.Gly795=)
n.2790C>A
7g.143351833C>GCA458542427CLCN1c.2835C>G (p.Gly945=)
n.2775C>G
c.2859C>G (p.Gly953=)
c.1581C>G (p.Gly527=)
c.2409C>G (p.Gly803=)
c.2385C>G (p.Gly795=)
n.2790C>G
7g.143351833C>TCA458542429CLCN1c.2835C>T (p.Gly945=)
n.2775C>T
c.2859C>T (p.Gly953=)
c.1581C>T (p.Gly527=)
c.2409C>T (p.Gly803=)
c.2385C>T (p.Gly795=)
n.2790C>T
7g.143351834A>CCA369653903CLCN1c.2836A>C (p.Lys946Gln)
n.2776A>C
c.2860A>C (p.Lys954Gln)
c.1582A>C (p.Lys528Gln)
c.2410A>C (p.Lys804Gln)
c.2386A>C (p.Lys796Gln)
n.2791A>C
7g.143351834A>GCA369653901CLCN1c.2836A>G (p.Lys946Glu)
n.2776A>G
c.2860A>G (p.Lys954Glu)
c.1582A>G (p.Lys528Glu)
c.2410A>G (p.Lys804Glu)
c.2386A>G (p.Lys796Glu)
n.2791A>G
7g.143351834A>TCA369653902CLCN1c.2836A>T (p.Lys946Ter)
n.2776A>T
c.2860A>T (p.Lys954Ter)
c.1582A>T (p.Lys528Ter)
c.2410A>T (p.Lys804Ter)
c.2386A>T (p.Lys796Ter)
n.2791A>T
7g.143351835A>CCA369653904CLCN1c.2837A>C (p.Lys946Thr)
n.2777A>C
c.2861A>C (p.Lys954Thr)
c.1583A>C (p.Lys528Thr)
c.2411A>C (p.Lys804Thr)
c.2387A>C (p.Lys796Thr)
n.2792A>C
7g.143351835A>GCA369653905CLCN1c.2837A>G (p.Lys946Arg)
n.2777A>G
c.2861A>G (p.Lys954Arg)
c.1583A>G (p.Lys528Arg)
c.2411A>G (p.Lys804Arg)
c.2387A>G (p.Lys796Arg)
n.2792A>G
7g.143351835A>TCA369653906CLCN1c.2837A>T (p.Lys946Met)
n.2777A>T
c.2861A>T (p.Lys954Met)
c.1583A>T (p.Lys528Met)
c.2411A>T (p.Lys804Met)
c.2387A>T (p.Lys796Met)
n.2792A>T
7g.143351836G>ACA458542433CLCN1c.2838G>A (p.Lys946=)
n.2778G>A
c.2862G>A (p.Lys954=)
c.1584G>A (p.Lys528=)
c.2412G>A (p.Lys804=)
c.2388G>A (p.Lys796=)
n.2793G>A
7g.143351836G>CCA369653907CLCN1c.2838G>C (p.Lys946Asn)
n.2778G>C
c.2862G>C (p.Lys954Asn)
c.1584G>C (p.Lys528Asn)
c.2412G>C (p.Lys804Asn)
c.2388G>C (p.Lys796Asn)
n.2793G>C
7g.143351836G>TCA369653908CLCN1c.2838G>T (p.Lys946Asn)
n.2778G>T
c.2862G>T (p.Lys954Asn)
c.1584G>T (p.Lys528Asn)
c.2412G>T (p.Lys804Asn)
c.2388G>T (p.Lys796Asn)
n.2793G>T
7g.143351837G>ACA369653911CLCN1c.2839G>A (p.Val947Ile)
n.2779G>A
c.2863G>A (p.Val955Ile)
c.1585G>A (p.Val529Ile)
c.2413G>A (p.Val805Ile)
c.2389G>A (p.Val797Ile)
n.2794G>A
 dbSNP
7g.143351837G>CCA369653910CLCN1c.2839G>C (p.Val947Leu)
n.2779G>C
c.2863G>C (p.Val955Leu)
c.1585G>C (p.Val529Leu)
c.2413G>C (p.Val805Leu)
c.2389G>C (p.Val797Leu)
n.2794G>C
7g.143351837G=CA1748898357CLCN1c.2839G= (p.Val947=)
n.2779G=
c.2863G= (p.Val955=)
c.1585G= (p.Val529=)
c.2413G= (p.Val805=)
c.2389G= (p.Val797=)
n.2794G=
7g.143351837G>TCA369653909CLCN1c.2839G>T (p.Val947Leu)
n.2779G>T
c.2863G>T (p.Val955Leu)
c.1585G>T (p.Val529Leu)
c.2413G>T (p.Val805Leu)
c.2389G>T (p.Val797Leu)
n.2794G>T
7g.143351838T>ACA369653912CLCN1c.2840T>A (p.Val947Glu)
n.2780T>A
c.2864T>A (p.Val955Glu)
c.1586T>A (p.Val529Glu)
c.2414T>A (p.Val805Glu)
c.2390T>A (p.Val797Glu)
n.2795T>A
7g.143351838T>CCA4537798CLCN1c.2840T>C (p.Val947Ala)
n.2780T>C
c.2864T>C (p.Val955Ala)
c.1586T>C (p.Val529Ala)
c.2414T>C (p.Val805Ala)
c.2390T>C (p.Val797Ala)
n.2795T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351838T>GCA369653913CLCN1c.2840T>G (p.Val947Gly)
n.2780T>G
c.2864T>G (p.Val955Gly)
c.1586T>G (p.Val529Gly)
c.2414T>G (p.Val805Gly)
c.2390T>G (p.Val797Gly)
n.2795T>G
7g.143351838T=CA1748898358CLCN1c.2840T= (p.Val947=)
n.2780T=
c.2864T= (p.Val955=)
c.1586T= (p.Val529=)
c.2414T= (p.Val805=)
c.2390T= (p.Val797=)
n.2795T=
7g.143351839A>CCA458542439CLCN1c.2841A>C (p.Val947=)
n.2781A>C
c.2865A>C (p.Val955=)
c.1587A>C (p.Val529=)
c.2415A>C (p.Val805=)
c.2391A>C (p.Val797=)
n.2796A>C
7g.143351839A>GCA458542438CLCN1c.2841A>G (p.Val947=)
n.2781A>G
c.2865A>G (p.Val955=)
c.1587A>G (p.Val529=)
c.2415A>G (p.Val805=)
c.2391A>G (p.Val797=)
n.2796A>G
7g.143351839A>TCA458542437CLCN1c.2841A>T (p.Val947=)
n.2781A>T
c.2865A>T (p.Val955=)
c.1587A>T (p.Val529=)
c.2415A>T (p.Val805=)
c.2391A>T (p.Val797=)
n.2796A>T
7g.143351840G>ACA369653915CLCN1c.2842G>A (p.Glu948Lys)
n.2782G>A
c.2866G>A (p.Glu956Lys)
c.1588G>A (p.Glu530Lys)
c.2416G>A (p.Glu806Lys)
c.2392G>A (p.Glu798Lys)
n.2797G>A
7g.143351840G>CCA369653916CLCN1c.2842G>C (p.Glu948Gln)
n.2782G>C
c.2866G>C (p.Glu956Gln)
c.1588G>C (p.Glu530Gln)
c.2416G>C (p.Glu806Gln)
c.2392G>C (p.Glu798Gln)
n.2797G>C
7g.143351840G>TCA369653918CLCN1c.2842G>T (p.Glu948Ter)
n.2782G>T
c.2866G>T (p.Glu956Ter)
c.1588G>T (p.Glu530Ter)
c.2416G>T (p.Glu806Ter)
c.2392G>T (p.Glu798Ter)
n.2797G>T
7g.143351841A>CCA369653923CLCN1c.2843A>C (p.Glu948Ala)
n.2783A>C
c.2867A>C (p.Glu956Ala)
c.1589A>C (p.Glu530Ala)
c.2417A>C (p.Glu806Ala)
c.2393A>C (p.Glu798Ala)
n.2798A>C
7g.143351841A>GCA369653920CLCN1c.2843A>G (p.Glu948Gly)
n.2783A>G
c.2867A>G (p.Glu956Gly)
c.1589A>G (p.Glu530Gly)
c.2417A>G (p.Glu806Gly)
c.2393A>G (p.Glu798Gly)
n.2798A>G
7g.143351841A>TCA369653921CLCN1c.2843A>T (p.Glu948Val)
n.2783A>T
c.2867A>T (p.Glu956Val)
c.1589A>T (p.Glu530Val)
c.2417A>T (p.Glu806Val)
c.2393A>T (p.Glu798Val)
n.2798A>T
7g.143351842G>ACA458542444CLCN1c.2844G>A (p.Glu948=)
n.2784G>A
c.2868G>A (p.Glu956=)
c.1590G>A (p.Glu530=)
c.2418G>A (p.Glu806=)
c.2394G>A (p.Glu798=)
n.2799G>A
7g.143351842G>CCA369653928CLCN1c.2844G>C (p.Glu948Asp)
n.2784G>C
c.2868G>C (p.Glu956Asp)
c.1590G>C (p.Glu530Asp)
c.2418G>C (p.Glu806Asp)
c.2394G>C (p.Glu798Asp)
n.2799G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351842G=CA1748898359CLCN1c.2844G= (p.Glu948=)
n.2784G=
c.2868G= (p.Glu956=)
c.1590G= (p.Glu530=)
c.2418G= (p.Glu806=)
c.2394G= (p.Glu798=)
n.2799G=
7g.143351842G>TCA369653930CLCN1c.2844G>T (p.Glu948Asp)
n.2784G>T
c.2868G>T (p.Glu956Asp)
c.1590G>T (p.Glu530Asp)
c.2418G>T (p.Glu806Asp)
c.2394G>T (p.Glu798Asp)
n.2799G>T
7g.143351843G>ACA369653931CLCN1c.2845G>A (p.Gly949Ser)
n.2785G>A
c.2869G>A (p.Gly957Ser)
c.1591G>A (p.Gly531Ser)
c.2419G>A (p.Gly807Ser)
c.2395G>A (p.Gly799Ser)
n.2800G>A
 gnomAD v4
7g.143351843G>CCA369653932CLCN1c.2845G>C (p.Gly949Arg)
n.2785G>C
c.2869G>C (p.Gly957Arg)
c.1591G>C (p.Gly531Arg)
c.2419G>C (p.Gly807Arg)
c.2395G>C (p.Gly799Arg)
n.2800G>C
7g.143351843G>TCA369653933CLCN1c.2845G>T (p.Gly949Cys)
n.2785G>T
c.2869G>T (p.Gly957Cys)
c.1591G>T (p.Gly531Cys)
c.2419G>T (p.Gly807Cys)
c.2395G>T (p.Gly799Cys)
n.2800G>T
7g.143351844G>ACA369653935CLCN1c.2846G>A (p.Gly949Asp)
n.2786G>A
c.2870G>A (p.Gly957Asp)
c.1592G>A (p.Gly531Asp)
c.2420G>A (p.Gly807Asp)
c.2396G>A (p.Gly799Asp)
n.2801G>A
7g.143351844G>CCA369653937CLCN1c.2846G>C (p.Gly949Ala)
n.2786G>C
c.2870G>C (p.Gly957Ala)
c.1592G>C (p.Gly531Ala)
c.2420G>C (p.Gly807Ala)
c.2396G>C (p.Gly799Ala)
n.2801G>C
7g.143351844G>TCA369653938CLCN1c.2846G>T (p.Gly949Val)
n.2786G>T
c.2870G>T (p.Gly957Val)
c.1592G>T (p.Gly531Val)
c.2420G>T (p.Gly807Val)
c.2396G>T (p.Gly799Val)
n.2801G>T
7g.143351845C>ACA458542451CLCN1c.2847C>A (p.Gly949=)
n.2787C>A
c.2871C>A (p.Gly957=)
c.1593C>A (p.Gly531=)
c.2421C>A (p.Gly807=)
c.2397C>A (p.Gly799=)
n.2802C>A
 ClinVar dbSNP
7g.143351845C=CA1748898360CLCN1c.2847C= (p.Gly949=)
n.2787C=
c.2871C= (p.Gly957=)
c.1593C= (p.Gly531=)
c.2421C= (p.Gly807=)
c.2397C= (p.Gly799=)
n.2802C=
7g.143351845C>GCA458542452CLCN1c.2847C>G (p.Gly949=)
n.2787C>G
c.2871C>G (p.Gly957=)
c.1593C>G (p.Gly531=)
c.2421C>G (p.Gly807=)
c.2397C>G (p.Gly799=)
n.2802C>G
7g.143351845C>TCA4537799CLCN1c.2847C>T (p.Gly949=)
n.2787C>T
c.2871C>T (p.Gly957=)
c.1593C>T (p.Gly531=)
c.2421C>T (p.Gly807=)
c.2397C>T (p.Gly799=)
n.2802C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351846G>ACA4537800CLCN1c.2848G>A (p.Glu950Lys)
n.2788G>A
c.2872G>A (p.Glu958Lys)
c.1594G>A (p.Glu532Lys)
c.2422G>A (p.Glu808Lys)
c.2398G>A (p.Glu800Lys)
n.2803G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351846G>CCA369653942CLCN1c.2848G>C (p.Glu950Gln)
n.2788G>C
c.2872G>C (p.Glu958Gln)
c.1594G>C (p.Glu532Gln)
c.2422G>C (p.Glu808Gln)
c.2398G>C (p.Glu800Gln)
n.2803G>C
7g.143351846G=CA1748898361CLCN1c.2848G= (p.Glu950=)
n.2788G=
c.2872G= (p.Glu958=)
c.1594G= (p.Glu532=)
c.2422G= (p.Glu808=)
c.2398G= (p.Glu800=)
n.2803G=
7g.143351846G>TCA369653944CLCN1c.2848G>T (p.Glu950Ter)
n.2788G>T
c.2872G>T (p.Glu958Ter)
c.1594G>T (p.Glu532Ter)
c.2422G>T (p.Glu808Ter)
c.2398G>T (p.Glu800Ter)
n.2803G>T
 gnomAD v4
7g.143351847A>CCA369653949CLCN1c.2849A>C (p.Glu950Ala)
n.2789A>C
c.2873A>C (p.Glu958Ala)
c.1595A>C (p.Glu532Ala)
c.2423A>C (p.Glu808Ala)
c.2399A>C (p.Glu800Ala)
n.2804A>C
7g.143351847A>GCA369653946CLCN1c.2849A>G (p.Glu950Gly)
n.2789A>G
c.2873A>G (p.Glu958Gly)
c.1595A>G (p.Glu532Gly)
c.2423A>G (p.Glu808Gly)
c.2399A>G (p.Glu800Gly)
n.2804A>G
7g.143351847A>TCA369653948CLCN1c.2849A>T (p.Glu950Val)
n.2789A>T
c.2873A>T (p.Glu958Val)
c.1595A>T (p.Glu532Val)
c.2423A>T (p.Glu808Val)
c.2399A>T (p.Glu800Val)
n.2804A>T
7g.143351848G>ACA458542457CLCN1c.2850G>A (p.Glu950=)
n.2790G>A
c.2874G>A (p.Glu958=)
c.1596G>A (p.Glu532=)
c.2424G>A (p.Glu808=)
c.2400G>A (p.Glu800=)
n.2805G>A
7g.143351848G>CCA369653951CLCN1c.2850G>C (p.Glu950Asp)
n.2790G>C
c.2874G>C (p.Glu958Asp)
c.1596G>C (p.Glu532Asp)
c.2424G>C (p.Glu808Asp)
c.2400G>C (p.Glu800Asp)
n.2805G>C
7g.143351848G>TCA369653952CLCN1c.2850G>T (p.Glu950Asp)
n.2790G>T
c.2874G>T (p.Glu958Asp)
c.1596G>T (p.Glu532Asp)
c.2424G>T (p.Glu808Asp)
c.2400G>T (p.Glu800Asp)
n.2805G>T
7g.143351848_143351850delinsGTTCA1748898362CLCN1c.2850_2852delinsGTT (p.Glu950=)
n.2790_2792delinsGTT
c.2874_2876delinsGTT (p.Glu958=)
c.1596_1598delinsGTT (p.Glu532=)
c.2424_2426delinsGTT (p.Glu808=)
c.2400_2402delinsGTT (p.Glu800=)
n.2805_2807delinsGTT
7g.143351849T>ACA369653954CLCN1c.2851T>A (p.Leu951Met)
n.2791T>A
c.2875T>A (p.Leu959Met)
c.1597T>A (p.Leu533Met)
c.2425T>A (p.Leu809Met)
c.2401T>A (p.Leu801Met)
n.2806T>A
7g.143351849T>CCA4537801CLCN1c.2851T>C (p.Leu951=)
n.2791T>C
c.2875T>C (p.Leu959=)
c.1597T>C (p.Leu533=)
c.2425T>C (p.Leu809=)
c.2401T>C (p.Leu801=)
n.2806T>C
 dbSNP ExAC gnomAD v4
7g.143351849T>GCA369653956CLCN1c.2851T>G (p.Leu951Val)
n.2791T>G
c.2875T>G (p.Leu959Val)
c.1597T>G (p.Leu533Val)
c.2425T>G (p.Leu809Val)
c.2401T>G (p.Leu801Val)
n.2806T>G
 gnomAD v4
7g.143351849T=CA1748898363CLCN1c.2851T= (p.Leu951=)
n.2791T=
c.2875T= (p.Leu959=)
c.1597T= (p.Leu533=)
c.2425T= (p.Leu809=)
c.2401T= (p.Leu801=)
n.2806T=
7g.143351849_143351850delCA918151271CLCN1c.2851_2852del (p.Leu951GlyfsTer?)
n.2791_2792del
c.2875_2876del (p.Leu959GlyfsTer?)
c.1597_1598del (p.Leu533GlyfsTer?)
c.2425_2426del (p.Leu809GlyfsTer?)
c.2401_2402del (p.Leu801GlyfsTer?)
n.2806_2807del
 dbSNP
7g.143351850T>ACA369653958CLCN1c.2852T>A (p.Leu951Ter)
n.2792T>A
c.2876T>A (p.Leu959Ter)
c.1598T>A (p.Leu533Ter)
c.2426T>A (p.Leu809Ter)
c.2402T>A (p.Leu801Ter)
n.2807T>A
7g.143351850T>CCA369653959CLCN1c.2852T>C (p.Leu951Ser)
n.2792T>C
c.2876T>C (p.Leu959Ser)
c.1598T>C (p.Leu533Ser)
c.2426T>C (p.Leu809Ser)
c.2402T>C (p.Leu801Ser)
n.2807T>C
7g.143351850T>GCA369653960CLCN1c.2852T>G (p.Leu951Trp)
n.2792T>G
c.2876T>G (p.Leu959Trp)
c.1598T>G (p.Leu533Trp)
c.2426T>G (p.Leu809Trp)
c.2402T>G (p.Leu801Trp)
n.2807T>G
7g.143351851G>ACA4537802CLCN1c.2853G>A (p.Leu951=)
n.2793G>A
c.2877G>A (p.Leu959=)
c.1599G>A (p.Leu533=)
c.2427G>A (p.Leu809=)
c.2403G>A (p.Leu801=)
n.2808G>A
 dbSNP ExAC gnomAD v2
7g.143351851G>CCA369653962CLCN1c.2853G>C (p.Leu951Phe)
n.2793G>C
c.2877G>C (p.Leu959Phe)
c.1599G>C (p.Leu533Phe)
c.2427G>C (p.Leu809Phe)
c.2403G>C (p.Leu801Phe)
n.2808G>C
7g.143351851G=CA1748898364CLCN1c.2853G= (p.Leu951=)
n.2793G=
c.2877G= (p.Leu959=)
c.1599G= (p.Leu533=)
c.2427G= (p.Leu809=)
c.2403G= (p.Leu801=)
n.2808G=
7g.143351851G>TCA369653963CLCN1c.2853G>T (p.Leu951Phe)
n.2793G>T
c.2877G>T (p.Leu959Phe)
c.1599G>T (p.Leu533Phe)
c.2427G>T (p.Leu809Phe)
c.2403G>T (p.Leu801Phe)
n.2808G>T
7g.143351852G>ACA369653965CLCN1c.2854G>A (p.Glu952Lys)
n.2794G>A
c.2878G>A (p.Glu960Lys)
c.1600G>A (p.Glu534Lys)
c.2428G>A (p.Glu810Lys)
c.2404G>A (p.Glu802Lys)
n.2809G>A
7g.143351852G>CCA369653967CLCN1c.2854G>C (p.Glu952Gln)
n.2794G>C
c.2878G>C (p.Glu960Gln)
c.1600G>C (p.Glu534Gln)
c.2428G>C (p.Glu810Gln)
c.2404G>C (p.Glu802Gln)
n.2809G>C
 gnomAD v4
7g.143351852G>TCA369653969CLCN1c.2854G>T (p.Glu952Ter)
n.2794G>T
c.2878G>T (p.Glu960Ter)
c.1600G>T (p.Glu534Ter)
c.2428G>T (p.Glu810Ter)
c.2404G>T (p.Glu802Ter)
n.2809G>T
7g.143351853A=CA1748898365CLCN1c.2855A= (p.Glu952=)
n.2795A=
c.2879A= (p.Glu960=)
c.1601A= (p.Glu534=)
c.2429A= (p.Glu810=)
c.2405A= (p.Glu802=)
n.2810A=
7g.143351853A>CCA369653973CLCN1c.2855A>C (p.Glu952Ala)
n.2795A>C
c.2879A>C (p.Glu960Ala)
c.1601A>C (p.Glu534Ala)
c.2429A>C (p.Glu810Ala)
c.2405A>C (p.Glu802Ala)
n.2810A>C
7g.143351853A>GCA4537803CLCN1c.2855A>G (p.Glu952Gly)
n.2795A>G
c.2879A>G (p.Glu960Gly)
c.1601A>G (p.Glu534Gly)
c.2429A>G (p.Glu810Gly)
c.2405A>G (p.Glu802Gly)
n.2810A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351853A>TCA369653971CLCN1c.2855A>T (p.Glu952Val)
n.2795A>T
c.2879A>T (p.Glu960Val)
c.1601A>T (p.Glu534Val)
c.2429A>T (p.Glu810Val)
c.2405A>T (p.Glu802Val)
n.2810A>T
7g.143351854G>ACA458542469CLCN1c.2856G>A (p.Glu952=)
n.2796G>A
c.2880G>A (p.Glu960=)
c.1602G>A (p.Glu534=)
c.2430G>A (p.Glu810=)
c.2406G>A (p.Glu802=)
n.2811G>A
7g.143351854G>CCA369653975CLCN1c.2856G>C (p.Glu952Asp)
n.2796G>C
c.2880G>C (p.Glu960Asp)
c.1602G>C (p.Glu534Asp)
c.2430G>C (p.Glu810Asp)
c.2406G>C (p.Glu802Asp)
n.2811G>C
7g.143351854G>TCA369653976CLCN1c.2856G>T (p.Glu952Asp)
n.2796G>T
c.2880G>T (p.Glu960Asp)
c.1602G>T (p.Glu534Asp)
c.2430G>T (p.Glu810Asp)
c.2406G>T (p.Glu802Asp)
n.2811G>T
7g.143351862_143351867dupCA1748898366CLCN1c.2864_2869dup (p.Leu956_Val957insGluLeu)
n.2804_2809dup
c.2888_2893dup (p.Leu964_Val965insGluLeu)
c.1610_1615dup (p.Leu538_Val539insGluLeu)
c.2438_2443dup (p.Leu814_Val815insGluLeu)
c.2414_2419dup (p.Leu806_Val807insGluLeu)
n.2819_2824dup
 dbSNP
7g.143351855G>ACA369653978CLCN1c.2857G>A (p.Glu953Lys)
n.2797G>A
c.2881G>A (p.Glu961Lys)
c.1603G>A (p.Glu535Lys)
c.2431G>A (p.Glu811Lys)
c.2407G>A (p.Glu803Lys)
n.2812G>A
 COSMIC
7g.143351855G>CCA369653980CLCN1c.2857G>C (p.Glu953Gln)
n.2797G>C
c.2881G>C (p.Glu961Gln)
c.1603G>C (p.Glu535Gln)
c.2431G>C (p.Glu811Gln)
c.2407G>C (p.Glu803Gln)
n.2812G>C
7g.143351855G>TCA369653981CLCN1c.2857G>T (p.Glu953Ter)
n.2797G>T
c.2881G>T (p.Glu961Ter)
c.1603G>T (p.Glu535Ter)
c.2431G>T (p.Glu811Ter)
c.2407G>T (p.Glu803Ter)
n.2812G>T
7g.143351856A>CCA369653983CLCN1c.2858A>C (p.Glu953Ala)
n.2798A>C
c.2882A>C (p.Glu961Ala)
c.1604A>C (p.Glu535Ala)
c.2432A>C (p.Glu811Ala)
c.2408A>C (p.Glu803Ala)
n.2813A>C
7g.143351856A>GCA369653984CLCN1c.2858A>G (p.Glu953Gly)
n.2798A>G
c.2882A>G (p.Glu961Gly)
c.1604A>G (p.Glu535Gly)
c.2432A>G (p.Glu811Gly)
c.2408A>G (p.Glu803Gly)
n.2813A>G
7g.143351856A>TCA369653987CLCN1c.2858A>T (p.Glu953Val)
n.2798A>T
c.2882A>T (p.Glu961Val)
c.1604A>T (p.Glu535Val)
c.2432A>T (p.Glu811Val)
c.2408A>T (p.Glu803Val)
n.2813A>T
7g.143351857G>ACA458542473CLCN1c.2859G>A (p.Glu953=)
n.2799G>A
c.2883G>A (p.Glu961=)
c.1605G>A (p.Glu535=)
c.2433G>A (p.Glu811=)
c.2409G>A (p.Glu803=)
n.2814G>A
7g.143351857G>CCA369653989CLCN1c.2859G>C (p.Glu953Asp)
n.2799G>C
c.2883G>C (p.Glu961Asp)
c.1605G>C (p.Glu535Asp)
c.2433G>C (p.Glu811Asp)
c.2409G>C (p.Glu803Asp)
n.2814G>C
7g.143351857G>TCA369653991CLCN1c.2859G>T (p.Glu953Asp)
n.2799G>T
c.2883G>T (p.Glu961Asp)
c.1605G>T (p.Glu535Asp)
c.2433G>T (p.Glu811Asp)
c.2409G>T (p.Glu803Asp)
n.2814G>T
 gnomAD v4
7g.143351858C>ACA369653993CLCN1c.2860C>A (p.Leu954Met)
n.2800C>A
c.2884C>A (p.Leu962Met)
c.1606C>A (p.Leu536Met)
c.2434C>A (p.Leu812Met)
c.2410C>A (p.Leu804Met)
n.2815C>A
7g.143351858C=CA1748898367CLCN1c.2860C= (p.Leu954=)
n.2800C=
c.2884C= (p.Leu962=)
c.1606C= (p.Leu536=)
c.2434C= (p.Leu812=)
c.2410C= (p.Leu804=)
n.2815C=
7g.143351858C>GCA4537804CLCN1c.2860C>G (p.Leu954Val)
n.2800C>G
c.2884C>G (p.Leu962Val)
c.1606C>G (p.Leu536Val)
c.2434C>G (p.Leu812Val)
c.2410C>G (p.Leu804Val)
n.2815C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351858C>TCA458542476CLCN1c.2860C>T (p.Leu954=)
n.2800C>T
c.2884C>T (p.Leu962=)
c.1606C>T (p.Leu536=)
c.2434C>T (p.Leu812=)
c.2410C>T (p.Leu804=)
n.2815C>T
7g.143351859T>ACA369653998CLCN1c.2861T>A (p.Leu954Gln)
n.2801T>A
c.2885T>A (p.Leu962Gln)
c.1607T>A (p.Leu536Gln)
c.2435T>A (p.Leu812Gln)
c.2411T>A (p.Leu804Gln)
n.2816T>A
7g.143351859T>CCA369653997CLCN1c.2861T>C (p.Leu954Pro)
n.2801T>C
c.2885T>C (p.Leu962Pro)
c.1607T>C (p.Leu536Pro)
c.2435T>C (p.Leu812Pro)
c.2411T>C (p.Leu804Pro)
n.2816T>C
7g.143351859T>GCA369653996CLCN1c.2861T>G (p.Leu954Arg)
n.2801T>G
c.2885T>G (p.Leu962Arg)
c.1607T>G (p.Leu536Arg)
c.2435T>G (p.Leu812Arg)
c.2411T>G (p.Leu804Arg)
n.2816T>G
7g.143351860G>ACA458542482CLCN1c.2862G>A (p.Leu954=)
n.2802G>A
c.2886G>A (p.Leu962=)
c.1608G>A (p.Leu536=)
c.2436G>A (p.Leu812=)
c.2412G>A (p.Leu804=)
n.2817G>A
 ClinVar
7g.143351860G>CCA458542481CLCN1c.2862G>C (p.Leu954=)
n.2802G>C
c.2886G>C (p.Leu962=)
c.1608G>C (p.Leu536=)
c.2436G>C (p.Leu812=)
c.2412G>C (p.Leu804=)
n.2817G>C
7g.143351860G>TCA458542480CLCN1c.2862G>T (p.Leu954=)
n.2802G>T
c.2886G>T (p.Leu962=)
c.1608G>T (p.Leu536=)
c.2436G>T (p.Leu812=)
c.2412G>T (p.Leu804=)
n.2817G>T
7g.143351861G>ACA168231742CLCN1c.2863G>A (p.Glu955Lys)
n.2803G>A
c.2887G>A (p.Glu963Lys)
c.1609G>A (p.Glu537Lys)
c.2437G>A (p.Glu813Lys)
c.2413G>A (p.Glu805Lys)
n.2818G>A
 dbSNP gnomAD v3 gnomAD v4
7g.143351861G>CCA369653999CLCN1c.2863G>C (p.Glu955Gln)
n.2803G>C
c.2887G>C (p.Glu963Gln)
c.1609G>C (p.Glu537Gln)
c.2437G>C (p.Glu813Gln)
c.2413G>C (p.Glu805Gln)
n.2818G>C
7g.143351861G=CA1748898368CLCN1c.2863G= (p.Glu955=)
n.2803G=
c.2887G= (p.Glu963=)
c.1609G= (p.Glu537=)
c.2437G= (p.Glu813=)
c.2413G= (p.Glu805=)
n.2818G=
7g.143351861G>TCA369654000CLCN1c.2863G>T (p.Glu955Ter)
n.2803G>T
c.2887G>T (p.Glu963Ter)
c.1609G>T (p.Glu537Ter)
c.2437G>T (p.Glu813Ter)
c.2413G>T (p.Glu805Ter)
n.2818G>T
7g.143351862A=CA1748898369CLCN1c.2864A= (p.Glu955=)
n.2804A=
c.2888A= (p.Glu963=)
c.1610A= (p.Glu537=)
c.2438A= (p.Glu813=)
c.2414A= (p.Glu805=)
n.2819A=
7g.143351862A>CCA369654002CLCN1c.2864A>C (p.Glu955Ala)
n.2804A>C
c.2888A>C (p.Glu963Ala)
c.1610A>C (p.Glu537Ala)
c.2438A>C (p.Glu813Ala)
c.2414A>C (p.Glu805Ala)
n.2819A>C
7g.143351862A>GCA168231747CLCN1c.2864A>G (p.Glu955Gly)
n.2804A>G
c.2888A>G (p.Glu963Gly)
c.1610A>G (p.Glu537Gly)
c.2438A>G (p.Glu813Gly)
c.2414A>G (p.Glu805Gly)
n.2819A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.143351862A>TCA4537805CLCN1c.2864A>T (p.Glu955Val)
n.2804A>T
c.2888A>T (p.Glu963Val)
c.1610A>T (p.Glu537Val)
c.2438A>T (p.Glu813Val)
c.2414A>T (p.Glu805Val)
n.2819A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351863G>ACA4537806CLCN1c.2865G>A (p.Glu955=)
n.2805G>A
c.2889G>A (p.Glu963=)
c.1611G>A (p.Glu537=)
c.2439G>A (p.Glu813=)
c.2415G>A (p.Glu805=)
n.2820G>A
 dbSNP ExAC gnomAD v2
7g.143351863G>CCA369654006CLCN1c.2865G>C (p.Glu955Asp)
n.2805G>C
c.2889G>C (p.Glu963Asp)
c.1611G>C (p.Glu537Asp)
c.2439G>C (p.Glu813Asp)
c.2415G>C (p.Glu805Asp)
n.2820G>C
7g.143351863G=CA1748898370CLCN1c.2865G= (p.Glu955=)
n.2805G=
c.2889G= (p.Glu963=)
c.1611G= (p.Glu537=)
c.2439G= (p.Glu813=)
c.2415G= (p.Glu805=)
n.2820G=
7g.143351863G>TCA369654004CLCN1c.2865G>T (p.Glu955Asp)
n.2805G>T
c.2889G>T (p.Glu963Asp)
c.1611G>T (p.Glu537Asp)
c.2439G>T (p.Glu813Asp)
c.2415G>T (p.Glu805Asp)
n.2820G>T
7g.143351864C>ACA369654008CLCN1c.2866C>A (p.Leu956Met)
n.2806C>A
c.2890C>A (p.Leu964Met)
c.1612C>A (p.Leu538Met)
c.2440C>A (p.Leu814Met)
c.2416C>A (p.Leu806Met)
n.2821C>A
7g.143351864C>GCA369654009CLCN1c.2866C>G (p.Leu956Val)
n.2806C>G
c.2890C>G (p.Leu964Val)
c.1612C>G (p.Leu538Val)
c.2440C>G (p.Leu814Val)
c.2416C>G (p.Leu806Val)
n.2821C>G
7g.143351864C>TCA458542483CLCN1c.2866C>T (p.Leu956=)
n.2806C>T
c.2890C>T (p.Leu964=)
c.1612C>T (p.Leu538=)
c.2440C>T (p.Leu814=)
c.2416C>T (p.Leu806=)
n.2821C>T
7g.143351865T>ACA369654010CLCN1c.2867T>A (p.Leu956Gln)
n.2807T>A
c.2891T>A (p.Leu964Gln)
c.1613T>A (p.Leu538Gln)
c.2441T>A (p.Leu814Gln)
c.2417T>A (p.Leu806Gln)
n.2822T>A
7g.143351865T>CCA369654011CLCN1c.2867T>C (p.Leu956Pro)
n.2807T>C
c.2891T>C (p.Leu964Pro)
c.1613T>C (p.Leu538Pro)
c.2441T>C (p.Leu814Pro)
c.2417T>C (p.Leu806Pro)
n.2822T>C
7g.143351865T>GCA369654012CLCN1c.2867T>G (p.Leu956Arg)
n.2807T>G
c.2891T>G (p.Leu964Arg)
c.1613T>G (p.Leu538Arg)
c.2441T>G (p.Leu814Arg)
c.2417T>G (p.Leu806Arg)
n.2822T>G
7g.143351866G>ACA168231762CLCN1c.2868G>A (p.Leu956=)
n.2808G>A
c.2892G>A (p.Leu964=)
c.1614G>A (p.Leu538=)
c.2442G>A (p.Leu814=)
c.2418G>A (p.Leu806=)
n.2823G>A
 dbSNP gnomAD v2 gnomAD v4
7g.143351866G>CCA458542487CLCN1c.2868G>C (p.Leu956=)
n.2808G>C
c.2892G>C (p.Leu964=)
c.1614G>C (p.Leu538=)
c.2442G>C (p.Leu814=)
c.2418G>C (p.Leu806=)
n.2823G>C
 dbSNP gnomAD v2 gnomAD v4
7g.143351866G=CA1748898371CLCN1c.2868G= (p.Leu956=)
n.2808G=
c.2892G= (p.Leu964=)
c.1614G= (p.Leu538=)
c.2442G= (p.Leu814=)
c.2418G= (p.Leu806=)
n.2823G=
7g.143351866G>TCA458542489CLCN1c.2868G>T (p.Leu956=)
n.2808G>T
c.2892G>T (p.Leu964=)
c.1614G>T (p.Leu538=)
c.2442G>T (p.Leu814=)
c.2418G>T (p.Leu806=)
n.2823G>T
7g.143351867G>ACA4537807CLCN1c.2869G>A (p.Val957Met)
n.2809G>A
c.2893G>A (p.Val965Met)
c.1615G>A (p.Val539Met)
c.2443G>A (p.Val815Met)
c.2419G>A (p.Val807Met)
n.2824G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351867G>CCA369654021CLCN1c.2869G>C (p.Val957Leu)
n.2809G>C
c.2893G>C (p.Val965Leu)
c.1615G>C (p.Val539Leu)
c.2443G>C (p.Val815Leu)
c.2419G>C (p.Val807Leu)
n.2824G>C
 gnomAD v4
7g.143351867G=CA1748898372CLCN1c.2869G= (p.Val957=)
n.2809G=
c.2893G= (p.Val965=)
c.1615G= (p.Val539=)
c.2443G= (p.Val815=)
c.2419G= (p.Val807=)
n.2824G=
7g.143351867G>TCA369654015CLCN1c.2869G>T (p.Val957Leu)
n.2809G>T
c.2893G>T (p.Val965Leu)
c.1615G>T (p.Val539Leu)
c.2443G>T (p.Val815Leu)
c.2419G>T (p.Val807Leu)
n.2824G>T
 gnomAD v4
7g.143351868T>ACA369654023CLCN1c.2870T>A (p.Val957Glu)
n.2810T>A
c.2894T>A (p.Val965Glu)
c.1616T>A (p.Val539Glu)
c.2444T>A (p.Val815Glu)
c.2420T>A (p.Val807Glu)
n.2825T>A
7g.143351868T>CCA369654024CLCN1c.2870T>C (p.Val957Ala)
n.2810T>C
c.2894T>C (p.Val965Ala)
c.1616T>C (p.Val539Ala)
c.2444T>C (p.Val815Ala)
c.2420T>C (p.Val807Ala)
n.2825T>C
 dbSNP gnomAD v4
7g.143351868T>GCA369654026CLCN1c.2870T>G (p.Val957Gly)
n.2810T>G
c.2894T>G (p.Val965Gly)
c.1616T>G (p.Val539Gly)
c.2444T>G (p.Val815Gly)
c.2420T>G (p.Val807Gly)
n.2825T>G
7g.143351868T=CA1748898373CLCN1c.2870T= (p.Val957=)
n.2810T=
c.2894T= (p.Val965=)
c.1616T= (p.Val539=)
c.2444T= (p.Val815=)
c.2420T= (p.Val807=)
n.2825T=
7g.143351869G>ACA458542498CLCN1c.2871G>A (p.Val957=)
n.2811G>A
c.2895G>A (p.Val965=)
c.1617G>A (p.Val539=)
c.2445G>A (p.Val815=)
c.2421G>A (p.Val807=)
n.2826G>A
 dbSNP gnomAD v2 gnomAD v4
7g.143351869G>CCA458542499CLCN1c.2871G>C (p.Val957=)
n.2811G>C
c.2895G>C (p.Val965=)
c.1617G>C (p.Val539=)
c.2445G>C (p.Val815=)
c.2421G>C (p.Val807=)
n.2826G>C
7g.143351869G=CA1748898374CLCN1c.2871G= (p.Val957=)
n.2811G=
c.2895G= (p.Val965=)
c.1617G= (p.Val539=)
c.2445G= (p.Val815=)
c.2421G= (p.Val807=)
n.2826G=
7g.143351869G>TCA458542500CLCN1c.2871G>T (p.Val957=)
n.2811G>T
c.2895G>T (p.Val965=)
c.1617G>T (p.Val539=)
c.2445G>T (p.Val815=)
c.2421G>T (p.Val807=)
n.2826G>T
7g.143351870G>ACA369654028CLCN1c.2872G>A (p.Glu958Lys)
n.2812G>A
c.2896G>A (p.Glu966Lys)
c.1618G>A (p.Glu540Lys)
c.2446G>A (p.Glu816Lys)
c.2422G>A (p.Glu808Lys)
n.2827G>A
 gnomAD v4
7g.143351870G>CCA369654029CLCN1c.2872G>C (p.Glu958Gln)
n.2812G>C
c.2896G>C (p.Glu966Gln)
c.1618G>C (p.Glu540Gln)
c.2446G>C (p.Glu816Gln)
c.2422G>C (p.Glu808Gln)
n.2827G>C
7g.143351870G=CA1748898375CLCN1c.2872G= (p.Glu958=)
n.2812G=
c.2896G= (p.Glu966=)
c.1618G= (p.Glu540=)
c.2446G= (p.Glu816=)
c.2422G= (p.Glu808=)
n.2827G=
7g.143351870G>TCA4537808CLCN1c.2872G>T (p.Glu958Ter)
n.2812G>T
c.2896G>T (p.Glu966Ter)
c.1618G>T (p.Glu540Ter)
c.2446G>T (p.Glu816Ter)
c.2422G>T (p.Glu808Ter)
n.2827G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351871A>CCA369654032CLCN1c.2873A>C (p.Glu958Ala)
n.2813A>C
c.2897A>C (p.Glu966Ala)
c.1619A>C (p.Glu540Ala)
c.2447A>C (p.Glu816Ala)
c.2423A>C (p.Glu808Ala)
n.2828A>C
7g.143351871A>GCA369654034CLCN1c.2873A>G (p.Glu958Gly)
n.2813A>G
c.2897A>G (p.Glu966Gly)
c.1619A>G (p.Glu540Gly)
c.2447A>G (p.Glu816Gly)
c.2423A>G (p.Glu808Gly)
n.2828A>G
7g.143351871A>TCA369654035CLCN1c.2873A>T (p.Glu958Val)
n.2813A>T
c.2897A>T (p.Glu966Val)
c.1619A>T (p.Glu540Val)
c.2447A>T (p.Glu816Val)
c.2423A>T (p.Glu808Val)
n.2828A>T
7g.143351872G>ACA458542503CLCN1c.2874G>A (p.Glu958=)
n.2814G>A
c.2898G>A (p.Glu966=)
c.1620G>A (p.Glu540=)
c.2448G>A (p.Glu816=)
c.2424G>A (p.Glu808=)
n.2829G>A
 ClinVar dbSNP
7g.143351872G>CCA369654037CLCN1c.2874G>C (p.Glu958Asp)
n.2814G>C
c.2898G>C (p.Glu966Asp)
c.1620G>C (p.Glu540Asp)
c.2448G>C (p.Glu816Asp)
c.2424G>C (p.Glu808Asp)
n.2829G>C
7g.143351872G=CA1748898376CLCN1c.2874G= (p.Glu958=)
n.2814G=
c.2898G= (p.Glu966=)
c.1620G= (p.Glu540=)
c.2448G= (p.Glu816=)
c.2424G= (p.Glu808=)
n.2829G=
7g.143351872G>TCA369654039CLCN1c.2874G>T (p.Glu958Asp)
n.2814G>T
c.2898G>T (p.Glu966Asp)
c.1620G>T (p.Glu540Asp)
c.2448G>T (p.Glu816Asp)
c.2424G>T (p.Glu808Asp)
n.2829G>T
7g.143351873A=CA1748898377CLCN1c.2875A= (p.Ser959=)
n.2815A=
c.2899A= (p.Ser967=)
c.1621A= (p.Ser541=)
c.2449A= (p.Ser817=)
c.2425A= (p.Ser809=)
n.2830A=
7g.143351873A>CCA369654042CLCN1c.2875A>C (p.Ser959Arg)
n.2815A>C
c.2899A>C (p.Ser967Arg)
c.1621A>C (p.Ser541Arg)
c.2449A>C (p.Ser817Arg)
c.2425A>C (p.Ser809Arg)
n.2830A>C
7g.143351873A>GCA4537809CLCN1c.2875A>G (p.Ser959Gly)
n.2815A>G
c.2899A>G (p.Ser967Gly)
c.1621A>G (p.Ser541Gly)
c.2449A>G (p.Ser817Gly)
c.2425A>G (p.Ser809Gly)
n.2830A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351873A>TCA369654040CLCN1c.2875A>T (p.Ser959Cys)
n.2815A>T
c.2899A>T (p.Ser967Cys)
c.1621A>T (p.Ser541Cys)
c.2449A>T (p.Ser817Cys)
c.2425A>T (p.Ser809Cys)
n.2830A>T
7g.143351874G>ACA369654045CLCN1c.2876G>A (p.Ser959Asn)
n.2816G>A
c.2900G>A (p.Ser967Asn)
c.1622G>A (p.Ser541Asn)
c.2450G>A (p.Ser817Asn)
c.2426G>A (p.Ser809Asn)
n.2831G>A
 gnomAD v4
7g.143351874G>CCA369654046CLCN1c.2876G>C (p.Ser959Thr)
n.2816G>C
c.2900G>C (p.Ser967Thr)
c.1622G>C (p.Ser541Thr)
c.2450G>C (p.Ser817Thr)
c.2426G>C (p.Ser809Thr)
n.2831G>C
7g.143351874G>TCA369654048CLCN1c.2876G>T (p.Ser959Ile)
n.2816G>T
c.2900G>T (p.Ser967Ile)
c.1622G>T (p.Ser541Ile)
c.2450G>T (p.Ser817Ile)
c.2426G>T (p.Ser809Ile)
n.2831G>T
7g.143351875T>ACA369654050CLCN1c.2877T>A (p.Ser959Arg)
n.2817T>A
c.2901T>A (p.Ser967Arg)
c.1623T>A (p.Ser541Arg)
c.2451T>A (p.Ser817Arg)
c.2427T>A (p.Ser809Arg)
n.2832T>A
7g.143351875T>CCA458542509CLCN1c.2877T>C (p.Ser959=)
n.2817T>C
c.2901T>C (p.Ser967=)
c.1623T>C (p.Ser541=)
c.2451T>C (p.Ser817=)
c.2427T>C (p.Ser809=)
n.2832T>C
7g.143351875T>GCA369654052CLCN1c.2877T>G (p.Ser959Arg)
n.2817T>G
c.2901T>G (p.Ser967Arg)
c.1623T>G (p.Ser541Arg)
c.2451T>G (p.Ser817Arg)
c.2427T>G (p.Ser809Arg)
n.2832T>G
7g.143351876C>ACA369654057CLCN1c.2878C>A (p.Pro960Thr)
n.2818C>A
c.2902C>A (p.Pro968Thr)
c.1624C>A (p.Pro542Thr)
c.2452C>A (p.Pro818Thr)
c.2428C>A (p.Pro810Thr)
n.2833C>A
7g.143351876C>GCA369654056CLCN1c.2878C>G (p.Pro960Ala)
n.2818C>G
c.2902C>G (p.Pro968Ala)
c.1624C>G (p.Pro542Ala)
c.2452C>G (p.Pro818Ala)
c.2428C>G (p.Pro810Ala)
n.2833C>G
 gnomAD v4
7g.143351876C>TCA369654054CLCN1c.2878C>T (p.Pro960Ser)
n.2818C>T
c.2902C>T (p.Pro968Ser)
c.1624C>T (p.Pro542Ser)
c.2452C>T (p.Pro818Ser)
c.2428C>T (p.Pro810Ser)
n.2833C>T
7g.143351877C>ACA369654060CLCN1c.2879C>A (p.Pro960Gln)
n.2819C>A
c.2903C>A (p.Pro968Gln)
c.1625C>A (p.Pro542Gln)
c.2453C>A (p.Pro818Gln)
c.2429C>A (p.Pro810Gln)
n.2834C>A
7g.143351877C=CA1748898378CLCN1c.2879C= (p.Pro960=)
n.2819C=
c.2903C= (p.Pro968=)
c.1625C= (p.Pro542=)
c.2453C= (p.Pro818=)
c.2429C= (p.Pro810=)
n.2834C=
7g.143351877C>GCA369654061CLCN1c.2879C>G (p.Pro960Arg)
n.2819C>G
c.2903C>G (p.Pro968Arg)
c.1625C>G (p.Pro542Arg)
c.2453C>G (p.Pro818Arg)
c.2429C>G (p.Pro810Arg)
n.2834C>G
 dbSNP
7g.143351877C>TCA369654062CLCN1c.2879C>T (p.Pro960Leu)
n.2819C>T
c.2903C>T (p.Pro968Leu)
c.1625C>T (p.Pro542Leu)
c.2453C>T (p.Pro818Leu)
c.2429C>T (p.Pro810Leu)
n.2834C>T
7g.143351878A=CA1748898379CLCN1c.2880A= (p.Pro960=)
n.2820A=
c.2904A= (p.Pro968=)
c.1626A= (p.Pro542=)
c.2454A= (p.Pro818=)
c.2430A= (p.Pro810=)
n.2835A=
7g.143351878A>CCA458542513CLCN1c.2880A>C (p.Pro960=)
n.2820A>C
c.2904A>C (p.Pro968=)
c.1626A>C (p.Pro542=)
c.2454A>C (p.Pro818=)
c.2430A>C (p.Pro810=)
n.2835A>C
 dbSNP gnomAD v2 gnomAD v4
7g.143351878A>GCA458542515CLCN1c.2880A>G (p.Pro960=)
n.2820A>G
c.2904A>G (p.Pro968=)
c.1626A>G (p.Pro542=)
c.2454A>G (p.Pro818=)
c.2430A>G (p.Pro810=)
n.2835A>G
 ClinVar
7g.143351878A>TCA458542516CLCN1c.2880A>T (p.Pro960=)
n.2820A>T
c.2904A>T (p.Pro968=)
c.1626A>T (p.Pro542=)
c.2454A>T (p.Pro818=)
c.2430A>T (p.Pro810=)
n.2835A>T
7g.143351879G>ACA369654064CLCN1c.2881G>A (p.Gly961Arg)
n.2821G>A
c.2905G>A (p.Gly969Arg)
c.1627G>A (p.Gly543Arg)
c.2455G>A (p.Gly819Arg)
c.2431G>A (p.Gly811Arg)
n.2836G>A
7g.143351879G>CCA369654065CLCN1c.2881G>C (p.Gly961Arg)
n.2821G>C
c.2905G>C (p.Gly969Arg)
c.1627G>C (p.Gly543Arg)
c.2455G>C (p.Gly819Arg)
c.2431G>C (p.Gly811Arg)
n.2836G>C
 dbSNP COSMIC
7g.143351879G=CA1748898380CLCN1c.2881G= (p.Gly961=)
n.2821G=
c.2905G= (p.Gly969=)
c.1627G= (p.Gly543=)
c.2455G= (p.Gly819=)
c.2431G= (p.Gly811=)
n.2836G=
7g.143351879G>TCA369654067CLCN1c.2881G>T (p.Gly961Trp)
n.2821G>T
c.2905G>T (p.Gly969Trp)
c.1627G>T (p.Gly543Trp)
c.2455G>T (p.Gly819Trp)
c.2431G>T (p.Gly811Trp)
n.2836G>T
 COSMIC
7g.143351880G>ACA369654072CLCN1c.2882G>A (p.Gly961Glu)
n.2822G>A
c.2906G>A (p.Gly969Glu)
c.1628G>A (p.Gly543Glu)
c.2456G>A (p.Gly819Glu)
c.2432G>A (p.Gly811Glu)
n.2837G>A
 ClinVar dbSNP
7g.143351880G>CCA369654069CLCN1c.2882G>C (p.Gly961Ala)
n.2822G>C
c.2906G>C (p.Gly969Ala)
c.1628G>C (p.Gly543Ala)
c.2456G>C (p.Gly819Ala)
c.2432G>C (p.Gly811Ala)
n.2837G>C
7g.143351880G=CA1748898381CLCN1c.2882G= (p.Gly961=)
n.2822G=
c.2906G= (p.Gly969=)
c.1628G= (p.Gly543=)
c.2456G= (p.Gly819=)
c.2432G= (p.Gly811=)
n.2837G=
7g.143351880G>TCA369654070CLCN1c.2882G>T (p.Gly961Val)
n.2822G>T
c.2906G>T (p.Gly969Val)
c.1628G>T (p.Gly543Val)
c.2456G>T (p.Gly819Val)
c.2432G>T (p.Gly811Val)
n.2837G>T
7g.143351881G>ACA458542521CLCN1c.2883G>A (p.Gly961=)
n.2823G>A
c.2907G>A (p.Gly969=)
c.1629G>A (p.Gly543=)
c.2457G>A (p.Gly819=)
c.2433G>A (p.Gly811=)
n.2838G>A
 dbSNP gnomAD v4
7g.143351881G>CCA16605144CLCN1c.2883G>C (p.Gly961=)
n.2823G>C
c.2907G>C (p.Gly969=)
c.1629G>C (p.Gly543=)
c.2457G>C (p.Gly819=)
c.2433G>C (p.Gly811=)
n.2838G>C
 ClinVar dbSNP
7g.143351881G=CA1748898382CLCN1c.2883G= (p.Gly961=)
n.2823G=
c.2907G= (p.Gly969=)
c.1629G= (p.Gly543=)
c.2457G= (p.Gly819=)
c.2433G= (p.Gly811=)
n.2838G=
7g.143351881G>TCA458542520CLCN1c.2883G>T (p.Gly961=)
n.2823G>T
c.2907G>T (p.Gly969=)
c.1629G>T (p.Gly543=)
c.2457G>T (p.Gly819=)
c.2433G>T (p.Gly811=)
n.2838G>T
7g.143351882C>ACA369654075CLCN1c.2884C>A (p.Leu962Met)
n.2824C>A
c.2908C>A (p.Leu970Met)
c.1630C>A (p.Leu544Met)
c.2458C>A (p.Leu820Met)
c.2434C>A (p.Leu812Met)
n.2839C>A
 gnomAD v4
7g.143351882C>GCA369654077CLCN1c.2884C>G (p.Leu962Val)
n.2824C>G
c.2908C>G (p.Leu970Val)
c.1630C>G (p.Leu544Val)
c.2458C>G (p.Leu820Val)
c.2434C>G (p.Leu812Val)
n.2839C>G
7g.143351882C>TCA458542527CLCN1c.2884C>T (p.Leu962=)
n.2824C>T
c.2908C>T (p.Leu970=)
c.1630C>T (p.Leu544=)
c.2458C>T (p.Leu820=)
c.2434C>T (p.Leu812=)
n.2839C>T
 gnomAD v4
7g.143351883T>ACA369654079CLCN1c.2885T>A (p.Leu962Gln)
n.2825T>A
c.2909T>A (p.Leu970Gln)
c.1631T>A (p.Leu544Gln)
c.2459T>A (p.Leu820Gln)
c.2435T>A (p.Leu812Gln)
n.2840T>A
7g.143351883T>CCA369654080CLCN1c.2885T>C (p.Leu962Pro)
n.2825T>C
c.2909T>C (p.Leu970Pro)
c.1631T>C (p.Leu544Pro)
c.2459T>C (p.Leu820Pro)
c.2435T>C (p.Leu812Pro)
n.2840T>C
7g.143351883T>GCA369654081CLCN1c.2885T>G (p.Leu962Arg)
n.2825T>G
c.2909T>G (p.Leu970Arg)
c.1631T>G (p.Leu544Arg)
c.2459T>G (p.Leu820Arg)
c.2435T>G (p.Leu812Arg)
n.2840T>G
7g.143351884G>ACA458542534CLCN1c.2886G>A (p.Leu962=)
n.2826G>A
c.2910G>A (p.Leu970=)
c.1632G>A (p.Leu544=)
c.2460G>A (p.Leu820=)
c.2436G>A (p.Leu812=)
n.2841G>A
 gnomAD v4 COSMIC
7g.143351884G>CCA458542535CLCN1c.2886G>C (p.Leu962=)
n.2826G>C
c.2910G>C (p.Leu970=)
c.1632G>C (p.Leu544=)
c.2460G>C (p.Leu820=)
c.2436G>C (p.Leu812=)
n.2841G>C
7g.143351884G>TCA458542537CLCN1c.2886G>T (p.Leu962=)
n.2826G>T
c.2910G>T (p.Leu970=)
c.1632G>T (p.Leu544=)
c.2460G>T (p.Leu820=)
c.2436G>T (p.Leu812=)
n.2841G>T
7g.143351885G>ACA369654083CLCN1c.2887G>A (p.Glu963Lys)
n.2827G>A
c.2911G>A (p.Glu971Lys)
c.1633G>A (p.Glu545Lys)
c.2461G>A (p.Glu821Lys)
c.2437G>A (p.Glu813Lys)
n.2842G>A
 dbSNP
7g.143351885G>CCA369654085CLCN1c.2887G>C (p.Glu963Gln)
n.2827G>C
c.2911G>C (p.Glu971Gln)
c.1633G>C (p.Glu545Gln)
c.2461G>C (p.Glu821Gln)
c.2437G>C (p.Glu813Gln)
n.2842G>C
7g.143351885G=CA1748898383CLCN1c.2887G= (p.Glu963=)
n.2827G=
c.2911G= (p.Glu971=)
c.1633G= (p.Glu545=)
c.2461G= (p.Glu821=)
c.2437G= (p.Glu813=)
n.2842G=
7g.143351885G>TCA369654086CLCN1c.2887G>T (p.Glu963Ter)
n.2827G>T
c.2911G>T (p.Glu971Ter)
c.1633G>T (p.Glu545Ter)
c.2461G>T (p.Glu821Ter)
c.2437G>T (p.Glu813Ter)
n.2842G>T
7g.143351886A>CCA369654088CLCN1c.2888A>C (p.Glu963Ala)
n.2828A>C
c.2912A>C (p.Glu971Ala)
c.1634A>C (p.Glu545Ala)
c.2462A>C (p.Glu821Ala)
c.2438A>C (p.Glu813Ala)
n.2843A>C
7g.143351886A>GCA369654089CLCN1c.2888A>G (p.Glu963Gly)
n.2828A>G
c.2912A>G (p.Glu971Gly)
c.1634A>G (p.Glu545Gly)
c.2462A>G (p.Glu821Gly)
c.2438A>G (p.Glu813Gly)
n.2843A>G
7g.143351886A>TCA369654091CLCN1c.2888A>T (p.Glu963Val)
n.2828A>T
c.2912A>T (p.Glu971Val)
c.1634A>T (p.Glu545Val)
c.2462A>T (p.Glu821Val)
c.2438A>T (p.Glu813Val)
n.2843A>T
7g.143351887A=CA1748898384CLCN1c.2889A= (p.Glu963=)
n.2829A=
c.2913A= (p.Glu971=)
c.1635A= (p.Glu545=)
c.2463A= (p.Glu821=)
c.2439A= (p.Glu813=)
n.2844A=
7g.143351887A>CCA369654093CLCN1c.2889A>C (p.Glu963Asp)
n.2829A>C
c.2913A>C (p.Glu971Asp)
c.1635A>C (p.Glu545Asp)
c.2463A>C (p.Glu821Asp)
c.2439A>C (p.Glu813Asp)
n.2844A>C
 dbSNP
7g.143351887A>GCA458542543CLCN1c.2889A>G (p.Glu963=)
n.2829A>G
c.2913A>G (p.Glu971=)
c.1635A>G (p.Glu545=)
c.2463A>G (p.Glu821=)
c.2439A>G (p.Glu813=)
n.2844A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.143351887A>TCA369654095CLCN1c.2889A>T (p.Glu963Asp)
n.2829A>T
c.2913A>T (p.Glu971Asp)
c.1635A>T (p.Glu545Asp)
c.2463A>T (p.Glu821Asp)
c.2439A>T (p.Glu813Asp)
n.2844A>T
7g.143351888G>ACA369654099CLCN1c.2890G>A (p.Glu964Lys)
n.2830G>A
c.2914G>A (p.Glu972Lys)
c.1636G>A (p.Glu546Lys)
c.2464G>A (p.Glu822Lys)
c.2440G>A (p.Glu814Lys)
n.2845G>A
 gnomAD v4
7g.143351888G>CCA4537810CLCN1c.2890G>C (p.Glu964Gln)
n.2830G>C
c.2914G>C (p.Glu972Gln)
c.1636G>C (p.Glu546Gln)
c.2464G>C (p.Glu822Gln)
c.2440G>C (p.Glu814Gln)
n.2845G>C
 dbSNP ExAC gnomAD v2 gnomAD v3
7g.143351888G=CA1748898385CLCN1c.2890G= (p.Glu964=)
n.2830G=
c.2914G= (p.Glu972=)
c.1636G= (p.Glu546=)
c.2464G= (p.Glu822=)
c.2440G= (p.Glu814=)
n.2845G=
7g.143351888G>TCA369654097CLCN1c.2890G>T (p.Glu964Ter)
n.2830G>T
c.2914G>T (p.Glu972Ter)
c.1636G>T (p.Glu546Ter)
c.2464G>T (p.Glu822Ter)
c.2440G>T (p.Glu814Ter)
n.2845G>T
7g.143351889A>CCA369654101CLCN1c.2891A>C (p.Glu964Ala)
n.2831A>C
c.2915A>C (p.Glu972Ala)
c.1637A>C (p.Glu546Ala)
c.2465A>C (p.Glu822Ala)
c.2441A>C (p.Glu814Ala)
n.2846A>C
7g.143351889A>GCA369654105CLCN1c.2891A>G (p.Glu964Gly)
n.2831A>G
c.2915A>G (p.Glu972Gly)
c.1637A>G (p.Glu546Gly)
c.2465A>G (p.Glu822Gly)
c.2441A>G (p.Glu814Gly)
n.2846A>G
7g.143351889A>TCA369654107CLCN1c.2891A>T (p.Glu964Val)
n.2831A>T
c.2915A>T (p.Glu972Val)
c.1637A>T (p.Glu546Val)
c.2465A>T (p.Glu822Val)
c.2441A>T (p.Glu814Val)
n.2846A>T
7g.143351890G>ACA458542547CLCN1c.2892G>A (p.Glu964=)
n.2832G>A
c.2916G>A (p.Glu972=)
c.1638G>A (p.Glu546=)
c.2466G>A (p.Glu822=)
c.2442G>A (p.Glu814=)
n.2847G>A
 ClinVar
7g.143351890G>CCA369654109CLCN1c.2892G>C (p.Glu964Asp)
n.2832G>C
c.2916G>C (p.Glu972Asp)
c.1638G>C (p.Glu546Asp)
c.2466G>C (p.Glu822Asp)
c.2442G>C (p.Glu814Asp)
n.2847G>C
7g.143351890G>TCA369654110CLCN1c.2892G>T (p.Glu964Asp)
n.2832G>T
c.2916G>T (p.Glu972Asp)
c.1638G>T (p.Glu546Asp)
c.2466G>T (p.Glu822Asp)
c.2442G>T (p.Glu814Asp)
n.2847G>T
7g.143351891G>ACA369654111CLCN1c.2893G>A (p.Glu965Lys)
n.2833G>A
c.2917G>A (p.Glu973Lys)
c.1639G>A (p.Glu547Lys)
c.2467G>A (p.Glu823Lys)
c.2443G>A (p.Glu815Lys)
n.2848G>A
7g.143351891G>CCA369654113CLCN1c.2893G>C (p.Glu965Gln)
n.2833G>C
c.2917G>C (p.Glu973Gln)
c.1639G>C (p.Glu547Gln)
c.2467G>C (p.Glu823Gln)
c.2443G>C (p.Glu815Gln)
n.2848G>C
7g.143351891G>TCA369654115CLCN1c.2893G>T (p.Glu965Ter)
n.2833G>T
c.2917G>T (p.Glu973Ter)
c.1639G>T (p.Glu547Ter)
c.2467G>T (p.Glu823Ter)
c.2443G>T (p.Glu815Ter)
n.2848G>T
7g.143351892A>CCA369654117CLCN1c.2894A>C (p.Glu965Ala)
n.2834A>C
c.2918A>C (p.Glu973Ala)
c.1640A>C (p.Glu547Ala)
c.2468A>C (p.Glu823Ala)
c.2444A>C (p.Glu815Ala)
n.2849A>C
7g.143351892A>GCA369654118CLCN1c.2894A>G (p.Glu965Gly)
n.2834A>G
c.2918A>G (p.Glu973Gly)
c.1640A>G (p.Glu547Gly)
c.2468A>G (p.Glu823Gly)
c.2444A>G (p.Glu815Gly)
n.2849A>G
7g.143351892A>TCA369654120CLCN1c.2894A>T (p.Glu965Val)
n.2834A>T
c.2918A>T (p.Glu973Val)
c.1640A>T (p.Glu547Val)
c.2468A>T (p.Glu823Val)
c.2444A>T (p.Glu815Val)
n.2849A>T
7g.143351893G>ACA458542552CLCN1c.2895G>A (p.Glu965=)
n.2835G>A
c.2919G>A (p.Glu973=)
c.1641G>A (p.Glu547=)
c.2469G>A (p.Glu823=)
c.2445G>A (p.Glu815=)
n.2850G>A
7g.143351893G>CCA369654122CLCN1c.2895G>C (p.Glu965Asp)
n.2835G>C
c.2919G>C (p.Glu973Asp)
c.1641G>C (p.Glu547Asp)
c.2469G>C (p.Glu823Asp)
c.2445G>C (p.Glu815Asp)
n.2850G>C
 gnomAD v4
7g.143351893G>TCA369654123CLCN1c.2895G>T (p.Glu965Asp)
n.2835G>T
c.2919G>T (p.Glu973Asp)
c.1641G>T (p.Glu547Asp)
c.2469G>T (p.Glu823Asp)
c.2445G>T (p.Glu815Asp)
n.2850G>T
7g.143351894C>ACA369654127CLCN1c.2896C>A (p.Leu966Met)
n.2836C>A
c.2920C>A (p.Leu974Met)
c.1642C>A (p.Leu548Met)
c.2470C>A (p.Leu824Met)
c.2446C>A (p.Leu816Met)
n.2851C>A
7g.143351894C=CA1748898386CLCN1c.2896C= (p.Leu966=)
n.2836C=
c.2920C= (p.Leu974=)
c.1642C= (p.Leu548=)
c.2470C= (p.Leu824=)
c.2446C= (p.Leu816=)
n.2851C=
7g.143351894C>GCA369654126CLCN1c.2896C>G (p.Leu966Val)
n.2836C>G
c.2920C>G (p.Leu974Val)
c.1642C>G (p.Leu548Val)
c.2470C>G (p.Leu824Val)
c.2446C>G (p.Leu816Val)
n.2851C>G
 ClinVar dbSNP
7g.143351894C>TCA4537811CLCN1c.2896C>T (p.Leu966=)
n.2836C>T
c.2920C>T (p.Leu974=)
c.1642C>T (p.Leu548=)
c.2470C>T (p.Leu824=)
c.2446C>T (p.Leu816=)
n.2851C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351895T>ACA369654129CLCN1c.2897T>A (p.Leu966Gln)
n.2837T>A
c.2921T>A (p.Leu974Gln)
c.1643T>A (p.Leu548Gln)
c.2471T>A (p.Leu824Gln)
c.2447T>A (p.Leu816Gln)
n.2852T>A
7g.143351895T>CCA369654130CLCN1c.2897T>C (p.Leu966Pro)
n.2837T>C
c.2921T>C (p.Leu974Pro)
c.1643T>C (p.Leu548Pro)
c.2471T>C (p.Leu824Pro)
c.2447T>C (p.Leu816Pro)
n.2852T>C
7g.143351895T>GCA369654132CLCN1c.2897T>G (p.Leu966Arg)
n.2837T>G
c.2921T>G (p.Leu974Arg)
c.1643T>G (p.Leu548Arg)
c.2471T>G (p.Leu824Arg)
c.2447T>G (p.Leu816Arg)
n.2852T>G

Number of alleles fetched