Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.143351707T>ACA458542455CLCN1c.2709T>A (p.Ser903=)
c.2533T>A
n.2649T>A
c.2733T>A (p.Ser911=)
c.1455T>A (p.Ser485=)
c.2283T>A (p.Ser761=)
c.2259T>A (p.Ser753=)
n.2664T>A
7g.143351707T>CCA458542456CLCN1c.2709T>C (p.Ser903=)
c.2533T>C
n.2649T>C
c.2733T>C (p.Ser911=)
c.1455T>C (p.Ser485=)
c.2283T>C (p.Ser761=)
c.2259T>C (p.Ser753=)
n.2664T>C
7g.143351707T>GCA458542458CLCN1c.2709T>G (p.Ser903=)
c.2533T>G
n.2649T>G
c.2733T>G (p.Ser911=)
c.1455T>G (p.Ser485=)
c.2283T>G (p.Ser761=)
c.2259T>G (p.Ser753=)
n.2664T>G
7g.143351708G>ACA369653652CLCN1c.2710G>A (p.Ala904Thr)
c.2534G>A
n.2650G>A
c.2734G>A (p.Ala912Thr)
c.1456G>A (p.Ala486Thr)
c.2284G>A (p.Ala762Thr)
c.2260G>A (p.Ala754Thr)
n.2665G>A
7g.143351708G>CCA369653653CLCN1c.2710G>C (p.Ala904Pro)
c.2534G>C
n.2650G>C
c.2734G>C (p.Ala912Pro)
c.1456G>C (p.Ala486Pro)
c.2284G>C (p.Ala762Pro)
c.2260G>C (p.Ala754Pro)
n.2665G>C
7g.143351708G>TCA369653654CLCN1c.2710G>T (p.Ala904Ser)
c.2534G>T
n.2650G>T
c.2734G>T (p.Ala912Ser)
c.1456G>T (p.Ala486Ser)
c.2284G>T (p.Ala762Ser)
c.2260G>T (p.Ala754Ser)
n.2665G>T
7g.143351709C>ACA369653655CLCN1c.2711C>A (p.Ala904Glu)
c.2535C>A
n.2651C>A
c.2735C>A (p.Ala912Glu)
c.1457C>A (p.Ala486Glu)
c.2285C>A (p.Ala762Glu)
c.2261C>A (p.Ala754Glu)
n.2666C>A
 dbSNP gnomAD v3 gnomAD v4
7g.143351709C=CA1748898293CLCN1c.2711C= (p.Ala904=)
c.2535C=
n.2651C=
c.2735C= (p.Ala912=)
c.1457C= (p.Ala486=)
c.2285C= (p.Ala762=)
c.2261C= (p.Ala754=)
n.2666C=
7g.143351709C>GCA369653656CLCN1c.2711C>G (p.Ala904Gly)
c.2535C>G
n.2651C>G
c.2735C>G (p.Ala912Gly)
c.1457C>G (p.Ala486Gly)
c.2285C>G (p.Ala762Gly)
c.2261C>G (p.Ala754Gly)
n.2666C>G
7g.143351709C>TCA369653657CLCN1c.2711C>T (p.Ala904Val)
c.2535C>T
n.2651C>T
c.2735C>T (p.Ala912Val)
c.1457C>T (p.Ala486Val)
c.2285C>T (p.Ala762Val)
c.2261C>T (p.Ala754Val)
n.2666C>T
7g.143351709_143351714delinsCAGAGACA1748898294CLCN1c.2711_2716delinsCAGAGA (p.Ala904=)
c.2535_2540delinsCAGAGA
n.2651_2656delinsCAGAGA
c.2735_2740delinsCAGAGA (p.Ala912=)
c.1457_1462delinsCAGAGA (p.Ala486=)
c.2285_2290delinsCAGAGA (p.Ala762=)
c.2261_2266delinsCAGAGA (p.Ala754=)
n.2666_2671delinsCAGAGA
7g.143351710A=CA1748898296CLCN1c.2712A= (p.Ala904=)
c.2536A=
n.2652A=
c.2736A= (p.Ala912=)
c.1458A= (p.Ala486=)
c.2286A= (p.Ala762=)
c.2262A= (p.Ala754=)
n.2667A=
7g.143351710A>CCA458542463CLCN1c.2712A>C (p.Ala904=)
c.2536A>C
n.2652A>C
c.2736A>C (p.Ala912=)
c.1458A>C (p.Ala486=)
c.2286A>C (p.Ala762=)
c.2262A>C (p.Ala754=)
n.2667A>C
7g.143351710A>GCA458542464CLCN1c.2712A>G (p.Ala904=)
c.2536A>G
n.2652A>G
c.2736A>G (p.Ala912=)
c.1458A>G (p.Ala486=)
c.2286A>G (p.Ala762=)
c.2262A>G (p.Ala754=)
n.2667A>G
 dbSNP
7g.143351710A>TCA458542465CLCN1c.2712A>T (p.Ala904=)
c.2536A>T
n.2652A>T
c.2736A>T (p.Ala912=)
c.1458A>T (p.Ala486=)
c.2286A>T (p.Ala762=)
c.2262A>T (p.Ala754=)
n.2667A>T
7g.143351711_143351715delCA1748898295CLCN1c.2713_2717del (p.Glu905LeufsTer5)
c.2537_2541del
n.2653_2657del
c.2737_2741del (p.Glu913LeufsTer5)
c.1459_1463del (p.Glu487LeufsTer5)
c.2287_2291del (p.Glu763LeufsTer5)
c.2263_2267del (p.Glu755LeufsTer5)
n.2668_2672del
 dbSNP
7g.143351711G>ACA10628411CLCN1c.2713G>A (p.Glu905Lys)
c.2537G>A
n.2653G>A
c.2737G>A (p.Glu913Lys)
c.1459G>A (p.Glu487Lys)
c.2287G>A (p.Glu763Lys)
c.2263G>A (p.Glu755Lys)
n.2668G>A
 ClinVar dbSNP gnomAD v4
7g.143351711G>CCA369653658CLCN1c.2713G>C (p.Glu905Gln)
c.2537G>C
n.2653G>C
c.2737G>C (p.Glu913Gln)
c.1459G>C (p.Glu487Gln)
c.2287G>C (p.Glu763Gln)
c.2263G>C (p.Glu755Gln)
n.2668G>C
7g.143351711G=CA1748898297CLCN1c.2713G= (p.Glu905=)
c.2537G=
n.2653G=
c.2737G= (p.Glu913=)
c.1459G= (p.Glu487=)
c.2287G= (p.Glu763=)
c.2263G= (p.Glu755=)
n.2668G=
7g.143351711G>TCA369653659CLCN1c.2713G>T (p.Glu905Ter)
c.2537G>T
n.2653G>T
c.2737G>T (p.Glu913Ter)
c.1459G>T (p.Glu487Ter)
c.2287G>T (p.Glu763Ter)
c.2263G>T (p.Glu755Ter)
n.2668G>T
7g.143351712A>CCA369653660CLCN1c.2714A>C (p.Glu905Ala)
c.2538A>C
n.2654A>C
c.2738A>C (p.Glu913Ala)
c.1460A>C (p.Glu487Ala)
c.2288A>C (p.Glu763Ala)
c.2264A>C (p.Glu755Ala)
n.2669A>C
7g.143351712A>GCA369653661CLCN1c.2714A>G (p.Glu905Gly)
c.2538A>G
n.2654A>G
c.2738A>G (p.Glu913Gly)
c.1460A>G (p.Glu487Gly)
c.2288A>G (p.Glu763Gly)
c.2264A>G (p.Glu755Gly)
n.2669A>G
7g.143351712A>TCA369653662CLCN1c.2714A>T (p.Glu905Val)
c.2538A>T
n.2654A>T
c.2738A>T (p.Glu913Val)
c.1460A>T (p.Glu487Val)
c.2288A>T (p.Glu763Val)
c.2264A>T (p.Glu755Val)
n.2669A>T
7g.143351713G>ACA458542470CLCN1c.2715G>A (p.Glu905=)
c.2539G>A
n.2655G>A
c.2739G>A (p.Glu913=)
c.1461G>A (p.Glu487=)
c.2289G>A (p.Glu763=)
c.2265G>A (p.Glu755=)
n.2670G>A
7g.143351713G>CCA369653663CLCN1c.2715G>C (p.Glu905Asp)
c.2539G>C
n.2655G>C
c.2739G>C (p.Glu913Asp)
c.1461G>C (p.Glu487Asp)
c.2289G>C (p.Glu763Asp)
c.2265G>C (p.Glu755Asp)
n.2670G>C
 dbSNP gnomAD v2 gnomAD v4
7g.143351713G=CA1748898298CLCN1c.2715G= (p.Glu905=)
c.2539G=
n.2655G=
c.2739G= (p.Glu913=)
c.1461G= (p.Glu487=)
c.2289G= (p.Glu763=)
c.2265G= (p.Glu755=)
n.2670G=
7g.143351713G>TCA369653664CLCN1c.2715G>T (p.Glu905Asp)
c.2539G>T
n.2655G>T
c.2739G>T (p.Glu913Asp)
c.1461G>T (p.Glu487Asp)
c.2289G>T (p.Glu763Asp)
c.2265G>T (p.Glu755Asp)
n.2670G>T
7g.143351714A>CCA369653665CLCN1c.2716A>C (p.Asn906His)
c.2540A>C
n.2656A>C
c.2740A>C (p.Asn914His)
c.1462A>C (p.Asn488His)
c.2290A>C (p.Asn764His)
c.2266A>C (p.Asn756His)
n.2671A>C
7g.143351714A>GCA369653666CLCN1c.2716A>G (p.Asn906Asp)
c.2540A>G
n.2656A>G
c.2740A>G (p.Asn914Asp)
c.1462A>G (p.Asn488Asp)
c.2290A>G (p.Asn764Asp)
c.2266A>G (p.Asn756Asp)
n.2671A>G
7g.143351714A>TCA369653667CLCN1c.2716A>T (p.Asn906Tyr)
c.2540A>T
n.2656A>T
c.2740A>T (p.Asn914Tyr)
c.1462A>T (p.Asn488Tyr)
c.2290A>T (p.Asn764Tyr)
c.2266A>T (p.Asn756Tyr)
n.2671A>T
7g.143351715A>CCA369653668CLCN1c.2717A>C (p.Asn906Thr)
c.2541A>C
n.2657A>C
c.2741A>C (p.Asn914Thr)
c.1463A>C (p.Asn488Thr)
c.2291A>C (p.Asn764Thr)
c.2267A>C (p.Asn756Thr)
n.2672A>C
7g.143351715A>GCA369653669CLCN1c.2717A>G (p.Asn906Ser)
c.2541A>G
n.2657A>G
c.2741A>G (p.Asn914Ser)
c.1463A>G (p.Asn488Ser)
c.2291A>G (p.Asn764Ser)
c.2267A>G (p.Asn756Ser)
n.2672A>G
7g.143351715A>TCA369653670CLCN1c.2717A>T (p.Asn906Ile)
c.2541A>T
n.2657A>T
c.2741A>T (p.Asn914Ile)
c.1463A>T (p.Asn488Ile)
c.2291A>T (p.Asn764Ile)
c.2267A>T (p.Asn756Ile)
n.2672A>T
7g.143351716C>ACA369653671CLCN1c.2718C>A (p.Asn906Lys)
c.2542C>A
n.2658C>A
c.2742C>A (p.Asn914Lys)
c.1464C>A (p.Asn488Lys)
c.2292C>A (p.Asn764Lys)
c.2268C>A (p.Asn756Lys)
n.2673C>A
 gnomAD v4
7g.143351716C>GCA369653672CLCN1c.2718C>G (p.Asn906Lys)
c.2542C>G
n.2658C>G
c.2742C>G (p.Asn914Lys)
c.1464C>G (p.Asn488Lys)
c.2292C>G (p.Asn764Lys)
c.2268C>G (p.Asn756Lys)
n.2673C>G
7g.143351716C>TCA458542475CLCN1c.2718C>T (p.Asn906=)
c.2542C>T
n.2658C>T
c.2742C>T (p.Asn914=)
c.1464C>T (p.Asn488=)
c.2292C>T (p.Asn764=)
c.2268C>T (p.Asn756=)
n.2673C>T
7g.143351717T>ACA369653673CLCN1c.2719T>A (p.Trp907Arg)
c.2543T>A
n.2659T>A
c.2743T>A (p.Trp915Arg)
c.1465T>A (p.Trp489Arg)
c.2293T>A (p.Trp765Arg)
c.2269T>A (p.Trp757Arg)
n.2674T>A
7g.143351717T>CCA369653674CLCN1c.2719T>C (p.Trp907Arg)
c.2543T>C
n.2659T>C
c.2743T>C (p.Trp915Arg)
c.1465T>C (p.Trp489Arg)
c.2293T>C (p.Trp765Arg)
c.2269T>C (p.Trp757Arg)
n.2674T>C
7g.143351717T>GCA369653675CLCN1c.2719T>G (p.Trp907Gly)
c.2543T>G
n.2659T>G
c.2743T>G (p.Trp915Gly)
c.1465T>G (p.Trp489Gly)
c.2293T>G (p.Trp765Gly)
c.2269T>G (p.Trp757Gly)
n.2674T>G
7g.143351718G>ACA369653676CLCN1c.2720G>A (p.Trp907Ter)
c.2544G>A
n.2660G>A
c.2744G>A (p.Trp915Ter)
c.1466G>A (p.Trp489Ter)
c.2294G>A (p.Trp765Ter)
c.2270G>A (p.Trp757Ter)
n.2675G>A
7g.143351718G>CCA369653677CLCN1c.2720G>C (p.Trp907Ser)
c.2544G>C
n.2660G>C
c.2744G>C (p.Trp915Ser)
c.1466G>C (p.Trp489Ser)
c.2294G>C (p.Trp765Ser)
c.2270G>C (p.Trp757Ser)
n.2675G>C
7g.143351718G>TCA369653678CLCN1c.2720G>T (p.Trp907Leu)
c.2544G>T
n.2660G>T
c.2744G>T (p.Trp915Leu)
c.1466G>T (p.Trp489Leu)
c.2294G>T (p.Trp765Leu)
c.2270G>T (p.Trp757Leu)
n.2675G>T
 gnomAD v4
7g.143351719G>ACA369653679CLCN1c.2721G>A (p.Trp907Ter)
c.2545G>A
n.2661G>A
c.2745G>A (p.Trp915Ter)
c.1467G>A (p.Trp489Ter)
c.2295G>A (p.Trp765Ter)
c.2271G>A (p.Trp757Ter)
n.2676G>A
7g.143351719G>CCA369653680CLCN1c.2721G>C (p.Trp907Cys)
c.2545G>C
n.2661G>C
c.2745G>C (p.Trp915Cys)
c.1467G>C (p.Trp489Cys)
c.2295G>C (p.Trp765Cys)
c.2271G>C (p.Trp757Cys)
n.2676G>C
7g.143351719G>TCA369653681CLCN1c.2721G>T (p.Trp907Cys)
c.2545G>T
n.2661G>T
c.2745G>T (p.Trp915Cys)
c.1467G>T (p.Trp489Cys)
c.2295G>T (p.Trp765Cys)
c.2271G>T (p.Trp757Cys)
n.2676G>T
7g.143351720A=CA1748898299CLCN1c.2722A= (p.Asn908=)
c.2546A=
n.2662A=
c.2746A= (p.Asn916=)
c.1468A= (p.Asn490=)
c.2296A= (p.Asn766=)
c.2272A= (p.Asn758=)
n.2677A=
7g.143351720A>CCA369653682CLCN1c.2722A>C (p.Asn908His)
c.2546A>C
n.2662A>C
c.2746A>C (p.Asn916His)
c.1468A>C (p.Asn490His)
c.2296A>C (p.Asn766His)
c.2272A>C (p.Asn758His)
n.2677A>C
 dbSNP
7g.143351720A>GCA4537773CLCN1c.2722A>G (p.Asn908Asp)
c.2546A>G
n.2662A>G
c.2746A>G (p.Asn916Asp)
c.1468A>G (p.Asn490Asp)
c.2296A>G (p.Asn766Asp)
c.2272A>G (p.Asn758Asp)
n.2677A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351720A>TCA369653683CLCN1c.2722A>T (p.Asn908Tyr)
c.2546A>T
n.2662A>T
c.2746A>T (p.Asn916Tyr)
c.1468A>T (p.Asn490Tyr)
c.2296A>T (p.Asn766Tyr)
c.2272A>T (p.Asn758Tyr)
n.2677A>T
7g.143351721A>CCA369653686CLCN1c.2723A>C (p.Asn908Thr)
c.2547A>C
n.2663A>C
c.2747A>C (p.Asn916Thr)
c.1469A>C (p.Asn490Thr)
c.2297A>C (p.Asn766Thr)
c.2273A>C (p.Asn758Thr)
n.2678A>C
7g.143351721A>GCA369653685CLCN1c.2723A>G (p.Asn908Ser)
c.2547A>G
n.2663A>G
c.2747A>G (p.Asn916Ser)
c.1469A>G (p.Asn490Ser)
c.2297A>G (p.Asn766Ser)
c.2273A>G (p.Asn758Ser)
n.2678A>G
7g.143351721A>TCA369653684CLCN1c.2723A>T (p.Asn908Ile)
c.2547A>T
n.2663A>T
c.2747A>T (p.Asn916Ile)
c.1469A>T (p.Asn490Ile)
c.2297A>T (p.Asn766Ile)
c.2273A>T (p.Asn758Ile)
n.2678A>T
7g.143351722C>ACA4537774CLCN1c.2724C>A (p.Asn908Lys)
c.2548C>A
n.2664C>A
c.2748C>A (p.Asn916Lys)
c.1470C>A (p.Asn490Lys)
c.2298C>A (p.Asn766Lys)
c.2274C>A (p.Asn758Lys)
n.2679C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351722C=CA1748898300CLCN1c.2724C= (p.Asn908=)
c.2548C=
n.2664C=
c.2748C= (p.Asn916=)
c.1470C= (p.Asn490=)
c.2298C= (p.Asn766=)
c.2274C= (p.Asn758=)
n.2679C=
7g.143351722C>GCA168231530CLCN1c.2724C>G (p.Asn908Lys)
c.2548C>G
n.2664C>G
c.2748C>G (p.Asn916Lys)
c.1470C>G (p.Asn490Lys)
c.2298C>G (p.Asn766Lys)
c.2274C>G (p.Asn758Lys)
n.2679C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351722C>TCA458542488CLCN1c.2724C>T (p.Asn908=)
c.2548C>T
n.2664C>T
c.2748C>T (p.Asn916=)
c.1470C>T (p.Asn490=)
c.2298C>T (p.Asn766=)
c.2274C>T (p.Asn758=)
n.2679C>T
 dbSNP gnomAD v4
7g.143351723C>ACA369653687CLCN1c.2725C>A (p.Leu909Met)
c.2549C>A
n.2665C>A
c.2749C>A (p.Leu917Met)
c.1471C>A (p.Leu491Met)
c.2299C>A (p.Leu767Met)
c.2275C>A (p.Leu759Met)
n.2680C>A
7g.143351723C>GCA369653688CLCN1c.2725C>G (p.Leu909Val)
c.2549C>G
n.2665C>G
c.2749C>G (p.Leu917Val)
c.1471C>G (p.Leu491Val)
c.2299C>G (p.Leu767Val)
c.2275C>G (p.Leu759Val)
n.2680C>G
7g.143351723C>TCA458542490CLCN1c.2725C>T (p.Leu909=)
c.2549C>T
n.2665C>T
c.2749C>T (p.Leu917=)
c.1471C>T (p.Leu491=)
c.2299C>T (p.Leu767=)
c.2275C>T (p.Leu759=)
n.2680C>T
7g.143351724T>ACA369653689CLCN1c.2726T>A (p.Leu909Gln)
c.2550T>A
n.2666T>A
c.2750T>A (p.Leu917Gln)
c.1472T>A (p.Leu491Gln)
c.2300T>A (p.Leu767Gln)
c.2276T>A (p.Leu759Gln)
n.2681T>A
7g.143351724T>CCA369653690CLCN1c.2726T>C (p.Leu909Pro)
c.2550T>C
n.2666T>C
c.2750T>C (p.Leu917Pro)
c.1472T>C (p.Leu491Pro)
c.2300T>C (p.Leu767Pro)
c.2276T>C (p.Leu759Pro)
n.2681T>C
7g.143351724T>GCA369653691CLCN1c.2726T>G (p.Leu909Arg)
c.2550T>G
n.2666T>G
c.2750T>G (p.Leu917Arg)
c.1472T>G (p.Leu491Arg)
c.2300T>G (p.Leu767Arg)
c.2276T>G (p.Leu759Arg)
n.2681T>G
7g.143351725G>ACA458542493CLCN1c.2727G>A (p.Leu909=)
c.2551G>A
n.2667G>A
c.2751G>A (p.Leu917=)
c.1473G>A (p.Leu491=)
c.2301G>A (p.Leu767=)
c.2277G>A (p.Leu759=)
n.2682G>A
 dbSNP gnomAD v2 gnomAD v4
7g.143351725G>CCA458542491CLCN1c.2727G>C (p.Leu909=)
c.2551G>C
n.2667G>C
c.2751G>C (p.Leu917=)
c.1473G>C (p.Leu491=)
c.2301G>C (p.Leu767=)
c.2277G>C (p.Leu759=)
n.2682G>C
7g.143351725G=CA1748898301CLCN1c.2727G= (p.Leu909=)
c.2551G=
n.2667G=
c.2751G= (p.Leu917=)
c.1473G= (p.Leu491=)
c.2301G= (p.Leu767=)
c.2277G= (p.Leu759=)
n.2682G=
7g.143351725G>TCA458542492CLCN1c.2727G>T (p.Leu909=)
c.2551G>T
n.2667G>T
c.2751G>T (p.Leu917=)
c.1473G>T (p.Leu491=)
c.2301G>T (p.Leu767=)
c.2277G>T (p.Leu759=)
n.2682G>T
7g.143351726C>ACA369653692CLCN1c.2728C>A (p.Pro910Thr)
c.2552C>A
n.2668C>A
c.2752C>A (p.Pro918Thr)
c.1474C>A (p.Pro492Thr)
c.2302C>A (p.Pro768Thr)
c.2278C>A (p.Pro760Thr)
n.2683C>A
7g.143351726C>GCA369653693CLCN1c.2728C>G (p.Pro910Ala)
c.2552C>G
n.2668C>G
c.2752C>G (p.Pro918Ala)
c.1474C>G (p.Pro492Ala)
c.2302C>G (p.Pro768Ala)
c.2278C>G (p.Pro760Ala)
n.2683C>G
7g.143351726C>TCA369653694CLCN1c.2728C>T (p.Pro910Ser)
c.2552C>T
n.2668C>T
c.2752C>T (p.Pro918Ser)
c.1474C>T (p.Pro492Ser)
c.2302C>T (p.Pro768Ser)
c.2278C>T (p.Pro760Ser)
n.2683C>T
7g.143351727C>ACA369653695CLCN1c.2729C>A (p.Pro910His)
c.2553C>A
n.2669C>A
c.2753C>A (p.Pro918His)
c.1475C>A (p.Pro492His)
c.2303C>A (p.Pro768His)
c.2279C>A (p.Pro760His)
n.2684C>A
7g.143351727C>GCA369653696CLCN1c.2729C>G (p.Pro910Arg)
c.2553C>G
n.2669C>G
c.2753C>G (p.Pro918Arg)
c.1475C>G (p.Pro492Arg)
c.2303C>G (p.Pro768Arg)
c.2279C>G (p.Pro760Arg)
n.2684C>G
7g.143351727C>TCA369653697CLCN1c.2729C>T (p.Pro910Leu)
c.2553C>T
n.2669C>T
c.2753C>T (p.Pro918Leu)
c.1475C>T (p.Pro492Leu)
c.2303C>T (p.Pro768Leu)
c.2279C>T (p.Pro760Leu)
n.2684C>T
7g.143351728T>ACA458542494CLCN1c.2730T>A (p.Pro910=)
c.2554T>A
n.2670T>A
c.2754T>A (p.Pro918=)
c.1476T>A (p.Pro492=)
c.2304T>A (p.Pro768=)
c.2280T>A (p.Pro760=)
n.2685T>A
7g.143351728T>CCA458542495CLCN1c.2730T>C (p.Pro910=)
c.2554T>C
n.2670T>C
c.2754T>C (p.Pro918=)
c.1476T>C (p.Pro492=)
c.2304T>C (p.Pro768=)
c.2280T>C (p.Pro760=)
n.2685T>C
 ClinVar
7g.143351728T>GCA458542497CLCN1c.2730T>G (p.Pro910=)
c.2554T>G
n.2670T>G
c.2754T>G (p.Pro918=)
c.1476T>G (p.Pro492=)
c.2304T>G (p.Pro768=)
c.2280T>G (p.Pro760=)
n.2685T>G
7g.143351729G>ACA4537775CLCN1c.2731G>A (p.Glu911Lys)
c.2555G>A
n.2671G>A
c.2755G>A (p.Glu919Lys)
c.1477G>A (p.Glu493Lys)
c.2305G>A (p.Glu769Lys)
c.2281G>A (p.Glu761Lys)
n.2686G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351729G>CCA369653699CLCN1c.2731G>C (p.Glu911Gln)
c.2555G>C
n.2671G>C
c.2755G>C (p.Glu919Gln)
c.1477G>C (p.Glu493Gln)
c.2305G>C (p.Glu769Gln)
c.2281G>C (p.Glu761Gln)
n.2686G>C
7g.143351729G=CA1748898302CLCN1c.2731G= (p.Glu911=)
c.2555G=
n.2671G=
c.2755G= (p.Glu919=)
c.1477G= (p.Glu493=)
c.2305G= (p.Glu769=)
c.2281G= (p.Glu761=)
n.2686G=
7g.143351729G>TCA369653698CLCN1c.2731G>T (p.Glu911Ter)
c.2555G>T
n.2671G>T
c.2755G>T (p.Glu919Ter)
c.1477G>T (p.Glu493Ter)
c.2305G>T (p.Glu769Ter)
c.2281G>T (p.Glu761Ter)
n.2686G>T
7g.143351730A>CCA369653701CLCN1c.2732A>C (p.Glu911Ala)
c.2556A>C
n.2672A>C
c.2756A>C (p.Glu919Ala)
c.1478A>C (p.Glu493Ala)
c.2306A>C (p.Glu769Ala)
c.2282A>C (p.Glu761Ala)
n.2687A>C
7g.143351730A>GCA369653700CLCN1c.2732A>G (p.Glu911Gly)
c.2556A>G
n.2672A>G
c.2756A>G (p.Glu919Gly)
c.1478A>G (p.Glu493Gly)
c.2306A>G (p.Glu769Gly)
c.2282A>G (p.Glu761Gly)
n.2687A>G
 gnomAD v4
7g.143351730A>TCA369653702CLCN1c.2732A>T (p.Glu911Val)
c.2556A>T
n.2672A>T
c.2756A>T (p.Glu919Val)
c.1478A>T (p.Glu493Val)
c.2306A>T (p.Glu769Val)
c.2282A>T (p.Glu761Val)
n.2687A>T
7g.143351731G>ACA458542501CLCN1c.2733G>A (p.Glu911=)
c.2557G>A
n.2673G>A
c.2757G>A (p.Glu919=)
c.1479G>A (p.Glu493=)
c.2307G>A (p.Glu769=)
c.2283G>A (p.Glu761=)
n.2688G>A
 gnomAD v4
7g.143351731G>CCA369653703CLCN1c.2733G>C (p.Glu911Asp)
c.2557G>C
n.2673G>C
c.2757G>C (p.Glu919Asp)
c.1479G>C (p.Glu493Asp)
c.2307G>C (p.Glu769Asp)
c.2283G>C (p.Glu761Asp)
n.2688G>C
7g.143351731G=CA1748898303CLCN1c.2733G= (p.Glu911=)
c.2557G=
n.2673G=
c.2757G= (p.Glu919=)
c.1479G= (p.Glu493=)
c.2307G= (p.Glu769=)
c.2283G= (p.Glu761=)
n.2688G=
7g.143351731G>TCA4537776CLCN1c.2733G>T (p.Glu911Asp)
c.2557G>T
n.2673G>T
c.2757G>T (p.Glu919Asp)
c.1479G>T (p.Glu493Asp)
c.2307G>T (p.Glu769Asp)
c.2283G>T (p.Glu761Asp)
n.2688G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351732G>ACA369653704CLCN1c.2734G>A (p.Asp912Asn)
c.2558G>A
n.2674G>A
c.2758G>A (p.Asp920Asn)
c.1480G>A (p.Asp494Asn)
c.2308G>A (p.Asp770Asn)
c.2284G>A (p.Asp762Asn)
n.2689G>A
 dbSNP gnomAD v4
7g.143351732G>CCA369653705CLCN1c.2734G>C (p.Asp912His)
c.2558G>C
n.2674G>C
c.2758G>C (p.Asp920His)
c.1480G>C (p.Asp494His)
c.2308G>C (p.Asp770His)
c.2284G>C (p.Asp762His)
n.2689G>C
7g.143351732G=CA1748898304CLCN1c.2734G= (p.Asp912=)
c.2558G=
n.2674G=
c.2758G= (p.Asp920=)
c.1480G= (p.Asp494=)
c.2308G= (p.Asp770=)
c.2284G= (p.Asp762=)
n.2689G=
7g.143351732G>TCA369653706CLCN1c.2734G>T (p.Asp912Tyr)
c.2558G>T
n.2674G>T
c.2758G>T (p.Asp920Tyr)
c.1480G>T (p.Asp494Tyr)
c.2308G>T (p.Asp770Tyr)
c.2284G>T (p.Asp762Tyr)
n.2689G>T
7g.143351733A=CA1748898305CLCN1c.2735A= (p.Asp912=)
c.2559A=
n.2675A=
c.2759A= (p.Asp920=)
c.1481A= (p.Asp494=)
c.2309A= (p.Asp770=)
c.2285A= (p.Asp762=)
n.2690A=
7g.143351733A>CCA369653707CLCN1c.2735A>C (p.Asp912Ala)
c.2559A>C
n.2675A>C
c.2759A>C (p.Asp920Ala)
c.1481A>C (p.Asp494Ala)
c.2309A>C (p.Asp770Ala)
c.2285A>C (p.Asp762Ala)
n.2690A>C
7g.143351733A>GCA369653708CLCN1c.2735A>G (p.Asp912Gly)
c.2559A>G
n.2675A>G
c.2759A>G (p.Asp920Gly)
c.1481A>G (p.Asp494Gly)
c.2309A>G (p.Asp770Gly)
c.2285A>G (p.Asp762Gly)
n.2690A>G
 dbSNP gnomAD v3 gnomAD v4
7g.143351733A>TCA4537777CLCN1c.2735A>T (p.Asp912Val)
c.2559A>T
n.2675A>T
c.2759A>T (p.Asp920Val)
c.1481A>T (p.Asp494Val)
c.2309A>T (p.Asp770Val)
c.2285A>T (p.Asp762Val)
n.2690A>T
 dbSNP ExAC gnomAD v2
7g.143351734C>ACA369653709CLCN1c.2736C>A (p.Asp912Glu)
c.2560C>A
n.2676C>A
c.2760C>A (p.Asp920Glu)
c.1482C>A (p.Asp494Glu)
c.2310C>A (p.Asp770Glu)
c.2286C>A (p.Asp762Glu)
n.2691C>A
7g.143351734C>GCA369653710CLCN1c.2736C>G (p.Asp912Glu)
c.2560C>G
n.2676C>G
c.2760C>G (p.Asp920Glu)
c.1482C>G (p.Asp494Glu)
c.2310C>G (p.Asp770Glu)
c.2286C>G (p.Asp762Glu)
n.2691C>G
7g.143351734C>TCA458542506CLCN1c.2736C>T (p.Asp912=)
c.2560C>T
n.2676C>T
c.2760C>T (p.Asp920=)
c.1482C>T (p.Asp494=)
c.2310C>T (p.Asp770=)
c.2286C>T (p.Asp762=)
n.2691C>T
 gnomAD v4
7g.143351735A>CCA458542507CLCN1c.2737A>C (p.Arg913=)
n.2677A>C
c.2761A>C (p.Arg921=)
c.1483A>C (p.Arg495=)
c.2311A>C (p.Arg771=)
c.2287A>C (p.Arg763=)
n.2692A>C
7g.143351735A>GCA369653711CLCN1c.2737A>G (p.Arg913Gly)
n.2677A>G
c.2761A>G (p.Arg921Gly)
c.1483A>G (p.Arg495Gly)
c.2311A>G (p.Arg771Gly)
c.2287A>G (p.Arg763Gly)
n.2692A>G
7g.143351735A>TCA369653712CLCN1c.2737A>T (p.Arg913Trp)
n.2677A>T
c.2761A>T (p.Arg921Trp)
c.1483A>T (p.Arg495Trp)
c.2311A>T (p.Arg771Trp)
c.2287A>T (p.Arg763Trp)
n.2692A>T
7g.143351736G>ACA369653715CLCN1c.2738G>A (p.Arg913Lys)
n.2678G>A
c.2762G>A (p.Arg921Lys)
c.1484G>A (p.Arg495Lys)
c.2312G>A (p.Arg771Lys)
c.2288G>A (p.Arg763Lys)
n.2693G>A
 dbSNP gnomAD v2 gnomAD v4
7g.143351736G>CCA369653713CLCN1c.2738G>C (p.Arg913Thr)
n.2678G>C
c.2762G>C (p.Arg921Thr)
c.1484G>C (p.Arg495Thr)
c.2312G>C (p.Arg771Thr)
c.2288G>C (p.Arg763Thr)
n.2693G>C
7g.143351736G=CA1748898306CLCN1c.2738G= (p.Arg913=)
n.2678G=
c.2762G= (p.Arg921=)
c.1484G= (p.Arg495=)
c.2312G= (p.Arg771=)
c.2288G= (p.Arg763=)
n.2693G=
7g.143351736G>TCA369653714CLCN1c.2738G>T (p.Arg913Met)
n.2678G>T
c.2762G>T (p.Arg921Met)
c.1484G>T (p.Arg495Met)
c.2312G>T (p.Arg771Met)
c.2288G>T (p.Arg763Met)
n.2693G>T
7g.143351737G>ACA458542508CLCN1c.2739G>A (p.Arg913=)
n.2679G>A
c.2763G>A (p.Arg921=)
c.1485G>A (p.Arg495=)
c.2313G>A (p.Arg771=)
c.2289G>A (p.Arg763=)
n.2694G>A
 gnomAD v4 COSMIC
7g.143351737G>CCA369653716CLCN1c.2739G>C (p.Arg913Ser)
n.2679G>C
c.2763G>C (p.Arg921Ser)
c.1485G>C (p.Arg495Ser)
c.2313G>C (p.Arg771Ser)
c.2289G>C (p.Arg763Ser)
n.2694G>C
7g.143351737G>TCA369653717CLCN1c.2739G>T (p.Arg913Ser)
n.2679G>T
c.2763G>T (p.Arg921Ser)
c.1485G>T (p.Arg495Ser)
c.2313G>T (p.Arg771Ser)
c.2289G>T (p.Arg763Ser)
n.2694G>T
7g.143351738C>ACA369653718CLCN1c.2740C>A (p.Pro914Thr)
n.2680C>A
c.2764C>A (p.Pro922Thr)
c.1486C>A (p.Pro496Thr)
c.2314C>A (p.Pro772Thr)
c.2290C>A (p.Pro764Thr)
n.2695C>A
7g.143351738C>GCA369653719CLCN1c.2740C>G (p.Pro914Ala)
n.2680C>G
c.2764C>G (p.Pro922Ala)
c.1486C>G (p.Pro496Ala)
c.2314C>G (p.Pro772Ala)
c.2290C>G (p.Pro764Ala)
n.2695C>G
7g.143351738C>TCA369653720CLCN1c.2740C>T (p.Pro914Ser)
n.2680C>T
c.2764C>T (p.Pro922Ser)
c.1486C>T (p.Pro496Ser)
c.2314C>T (p.Pro772Ser)
c.2290C>T (p.Pro764Ser)
n.2695C>T
7g.143351739C>ACA369653721CLCN1c.2741C>A (p.Pro914His)
n.2681C>A
c.2765C>A (p.Pro922His)
c.1487C>A (p.Pro496His)
c.2315C>A (p.Pro772His)
c.2291C>A (p.Pro764His)
n.2696C>A
7g.143351739C=CA1748898307CLCN1c.2741C= (p.Pro914=)
n.2681C=
c.2765C= (p.Pro922=)
c.1487C= (p.Pro496=)
c.2315C= (p.Pro772=)
c.2291C= (p.Pro764=)
n.2696C=
7g.143351739C>GCA4537778CLCN1c.2741C>G (p.Pro914Arg)
n.2681C>G
c.2765C>G (p.Pro922Arg)
c.1487C>G (p.Pro496Arg)
c.2315C>G (p.Pro772Arg)
c.2291C>G (p.Pro764Arg)
n.2696C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351739C>TCA369653722CLCN1c.2741C>T (p.Pro914Leu)
n.2681C>T
c.2765C>T (p.Pro922Leu)
c.1487C>T (p.Pro496Leu)
c.2315C>T (p.Pro772Leu)
c.2291C>T (p.Pro764Leu)
n.2696C>T
7g.143351740T>ACA458542512CLCN1c.2742T>A (p.Pro914=)
n.2682T>A
c.2766T>A (p.Pro922=)
c.1488T>A (p.Pro496=)
c.2316T>A (p.Pro772=)
c.2292T>A (p.Pro764=)
n.2697T>A
7g.143351740T>CCA458542511CLCN1c.2742T>C (p.Pro914=)
n.2682T>C
c.2766T>C (p.Pro922=)
c.1488T>C (p.Pro496=)
c.2316T>C (p.Pro772=)
c.2292T>C (p.Pro764=)
n.2697T>C
 gnomAD v4
7g.143351740T>GCA458542510CLCN1c.2742T>G (p.Pro914=)
n.2682T>G
c.2766T>G (p.Pro922=)
c.1488T>G (p.Pro496=)
c.2316T>G (p.Pro772=)
c.2292T>G (p.Pro764=)
n.2697T>G
7g.143351741G>ACA369653723CLCN1c.2743G>A (p.Gly915Arg)
n.2683G>A
c.2767G>A (p.Gly923Arg)
c.1489G>A (p.Gly497Arg)
c.2317G>A (p.Gly773Arg)
c.2293G>A (p.Gly765Arg)
n.2698G>A
 dbSNP gnomAD v3 gnomAD v4
7g.143351741G>CCA369653724CLCN1c.2743G>C (p.Gly915Arg)
n.2683G>C
c.2767G>C (p.Gly923Arg)
c.1489G>C (p.Gly497Arg)
c.2317G>C (p.Gly773Arg)
c.2293G>C (p.Gly765Arg)
n.2698G>C
7g.143351741G=CA1748898308CLCN1c.2743G= (p.Gly915=)
n.2683G=
c.2767G= (p.Gly923=)
c.1489G= (p.Gly497=)
c.2317G= (p.Gly773=)
c.2293G= (p.Gly765=)
n.2698G=
7g.143351741G>TCA369653725CLCN1c.2743G>T (p.Gly915Trp)
n.2683G>T
c.2767G>T (p.Gly923Trp)
c.1489G>T (p.Gly497Trp)
c.2317G>T (p.Gly773Trp)
c.2293G>T (p.Gly765Trp)
n.2698G>T
7g.143351742G>ACA369653727CLCN1c.2744G>A (p.Gly915Glu)
n.2684G>A
c.2768G>A (p.Gly923Glu)
c.1490G>A (p.Gly497Glu)
c.2318G>A (p.Gly773Glu)
c.2294G>A (p.Gly765Glu)
n.2699G>A
7g.143351742G>CCA369653728CLCN1c.2744G>C (p.Gly915Ala)
n.2684G>C
c.2768G>C (p.Gly923Ala)
c.1490G>C (p.Gly497Ala)
c.2318G>C (p.Gly773Ala)
c.2294G>C (p.Gly765Ala)
n.2699G>C
7g.143351742G>TCA369653726CLCN1c.2744G>T (p.Gly915Val)
n.2684G>T
c.2768G>T (p.Gly923Val)
c.1490G>T (p.Gly497Val)
c.2318G>T (p.Gly773Val)
c.2294G>T (p.Gly765Val)
n.2699G>T
7g.143351743G>ACA458542517CLCN1c.2745G>A (p.Gly915=)
n.2685G>A
c.2769G>A (p.Gly923=)
c.1491G>A (p.Gly497=)
c.2319G>A (p.Gly773=)
c.2295G>A (p.Gly765=)
n.2700G>A
 gnomAD v3 gnomAD v4
7g.143351743G>CCA458542518CLCN1c.2745G>C (p.Gly915=)
n.2685G>C
c.2769G>C (p.Gly923=)
c.1491G>C (p.Gly497=)
c.2319G>C (p.Gly773=)
c.2295G>C (p.Gly765=)
n.2700G>C
7g.143351743G>TCA458542519CLCN1c.2745G>T (p.Gly915=)
n.2685G>T
c.2769G>T (p.Gly923=)
c.1491G>T (p.Gly497=)
c.2319G>T (p.Gly773=)
c.2295G>T (p.Gly765=)
n.2700G>T
7g.143351744G>ACA369653729CLCN1c.2746G>A (p.Ala916Thr)
n.2686G>A
c.2770G>A (p.Ala924Thr)
c.1492G>A (p.Ala498Thr)
c.2320G>A (p.Ala774Thr)
c.2296G>A (p.Ala766Thr)
n.2701G>A
7g.143351744G>CCA369653730CLCN1c.2746G>C (p.Ala916Pro)
n.2686G>C
c.2770G>C (p.Ala924Pro)
c.1492G>C (p.Ala498Pro)
c.2320G>C (p.Ala774Pro)
c.2296G>C (p.Ala766Pro)
n.2701G>C
7g.143351744G>TCA369653731CLCN1c.2746G>T (p.Ala916Ser)
n.2686G>T
c.2770G>T (p.Ala924Ser)
c.1492G>T (p.Ala498Ser)
c.2320G>T (p.Ala774Ser)
c.2296G>T (p.Ala766Ser)
n.2701G>T
7g.143351745C>ACA369653732CLCN1c.2747C>A (p.Ala916Asp)
n.2687C>A
c.2771C>A (p.Ala924Asp)
c.1493C>A (p.Ala498Asp)
c.2321C>A (p.Ala774Asp)
c.2297C>A (p.Ala766Asp)
n.2702C>A
7g.143351745C=CA1748898309CLCN1c.2747C= (p.Ala916=)
n.2687C=
c.2771C= (p.Ala924=)
c.1493C= (p.Ala498=)
c.2321C= (p.Ala774=)
c.2297C= (p.Ala766=)
n.2702C=
7g.143351745C>GCA369653733CLCN1c.2747C>G (p.Ala916Gly)
n.2687C>G
c.2771C>G (p.Ala924Gly)
c.1493C>G (p.Ala498Gly)
c.2321C>G (p.Ala774Gly)
c.2297C>G (p.Ala766Gly)
n.2702C>G
7g.143351745C>TCA4537779CLCN1c.2747C>T (p.Ala916Val)
n.2687C>T
c.2771C>T (p.Ala924Val)
c.1493C>T (p.Ala498Val)
c.2321C>T (p.Ala774Val)
c.2297C>T (p.Ala766Val)
n.2702C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351746C>ACA458542526CLCN1c.2748C>A (p.Ala916=)
n.2688C>A
c.2772C>A (p.Ala924=)
c.1494C>A (p.Ala498=)
c.2322C>A (p.Ala774=)
c.2298C>A (p.Ala766=)
n.2703C>A
7g.143351746C>GCA458542528CLCN1c.2748C>G (p.Ala916=)
n.2688C>G
c.2772C>G (p.Ala924=)
c.1494C>G (p.Ala498=)
c.2322C>G (p.Ala774=)
c.2298C>G (p.Ala766=)
n.2703C>G
 gnomAD v4
7g.143351746C>TCA458542525CLCN1c.2748C>T (p.Ala916=)
n.2688C>T
c.2772C>T (p.Ala924=)
c.1494C>T (p.Ala498=)
c.2322C>T (p.Ala774=)
c.2298C>T (p.Ala766=)
n.2703C>T
 gnomAD v4
7g.143351747A=CA1748898310CLCN1c.2749A= (p.Thr917=)
n.2689A=
c.2773A= (p.Thr925=)
c.1495A= (p.Thr499=)
c.2323A= (p.Thr775=)
c.2299A= (p.Thr767=)
n.2704A=
7g.143351747A>CCA369653734CLCN1c.2749A>C (p.Thr917Pro)
n.2689A>C
c.2773A>C (p.Thr925Pro)
c.1495A>C (p.Thr499Pro)
c.2323A>C (p.Thr775Pro)
c.2299A>C (p.Thr767Pro)
n.2704A>C
7g.143351747A>GCA369653735CLCN1c.2749A>G (p.Thr917Ala)
n.2689A>G
c.2773A>G (p.Thr925Ala)
c.1495A>G (p.Thr499Ala)
c.2323A>G (p.Thr775Ala)
c.2299A>G (p.Thr767Ala)
n.2704A>G
 ClinVar dbSNP gnomAD v4
7g.143351747A>TCA369653736CLCN1c.2749A>T (p.Thr917Ser)
n.2689A>T
c.2773A>T (p.Thr925Ser)
c.1495A>T (p.Thr499Ser)
c.2323A>T (p.Thr775Ser)
c.2299A>T (p.Thr767Ser)
n.2704A>T
7g.143351748C>ACA369653737CLCN1c.2750C>A (p.Thr917Asn)
n.2690C>A
c.2774C>A (p.Thr925Asn)
c.1496C>A (p.Thr499Asn)
c.2324C>A (p.Thr775Asn)
c.2300C>A (p.Thr767Asn)
n.2705C>A
7g.143351748C>GCA369653738CLCN1c.2750C>G (p.Thr917Ser)
n.2690C>G
c.2774C>G (p.Thr925Ser)
c.1496C>G (p.Thr499Ser)
c.2324C>G (p.Thr775Ser)
c.2300C>G (p.Thr767Ser)
n.2705C>G
7g.143351748C>TCA369653739CLCN1c.2750C>T (p.Thr917Ile)
n.2690C>T
c.2774C>T (p.Thr925Ile)
c.1496C>T (p.Thr499Ile)
c.2324C>T (p.Thr775Ile)
c.2300C>T (p.Thr767Ile)
n.2705C>T
7g.143351749T>ACA458542529CLCN1c.2751T>A (p.Thr917=)
n.2691T>A
c.2775T>A (p.Thr925=)
c.1497T>A (p.Thr499=)
c.2325T>A (p.Thr775=)
c.2301T>A (p.Thr767=)
n.2706T>A
7g.143351749T>CCA458542530CLCN1c.2751T>C (p.Thr917=)
n.2691T>C
c.2775T>C (p.Thr925=)
c.1497T>C (p.Thr499=)
c.2325T>C (p.Thr775=)
c.2301T>C (p.Thr767=)
n.2706T>C
 dbSNP gnomAD v4
7g.143351749T>GCA458542531CLCN1c.2751T>G (p.Thr917=)
n.2691T>G
c.2775T>G (p.Thr925=)
c.1497T>G (p.Thr499=)
c.2325T>G (p.Thr775=)
c.2301T>G (p.Thr767=)
n.2706T>G
7g.143351749T=CA1748898311CLCN1c.2751T= (p.Thr917=)
n.2691T=
c.2775T= (p.Thr925=)
c.1497T= (p.Thr499=)
c.2325T= (p.Thr775=)
c.2301T= (p.Thr767=)
n.2706T=
7g.143351750G>ACA369653741CLCN1c.2752G>A (p.Gly918Arg)
n.2692G>A
c.2776G>A (p.Gly926Arg)
c.1498G>A (p.Gly500Arg)
c.2326G>A (p.Gly776Arg)
c.2302G>A (p.Gly768Arg)
n.2707G>A
7g.143351750G>CCA369653742CLCN1c.2752G>C (p.Gly918Arg)
n.2692G>C
c.2776G>C (p.Gly926Arg)
c.1498G>C (p.Gly500Arg)
c.2326G>C (p.Gly776Arg)
c.2302G>C (p.Gly768Arg)
n.2707G>C
7g.143351750G>TCA369653740CLCN1c.2752G>T (p.Gly918Ter)
n.2692G>T
c.2776G>T (p.Gly926Ter)
c.1498G>T (p.Gly500Ter)
c.2326G>T (p.Gly776Ter)
c.2302G>T (p.Gly768Ter)
n.2707G>T
7g.143351751delCA2685382817CLCN1c.2753del (p.Gly918GlufsTer5)
n.2693del
c.2777del (p.Gly926GlufsTer5)
c.1499del (p.Gly500GlufsTer5)
c.2327del (p.Gly776GlufsTer5)
c.2303del (p.Gly768GlufsTer5)
n.2708del
 gnomAD v4
7g.143351751G>ACA369653743CLCN1c.2753G>A (p.Gly918Glu)
n.2693G>A
c.2777G>A (p.Gly926Glu)
c.1499G>A (p.Gly500Glu)
c.2327G>A (p.Gly776Glu)
c.2303G>A (p.Gly768Glu)
n.2708G>A
 COSMIC
7g.143351751G>CCA369653744CLCN1c.2753G>C (p.Gly918Ala)
n.2693G>C
c.2777G>C (p.Gly926Ala)
c.1499G>C (p.Gly500Ala)
c.2327G>C (p.Gly776Ala)
c.2303G>C (p.Gly768Ala)
n.2708G>C
 COSMIC
7g.143351751G>TCA369653745CLCN1c.2753G>T (p.Gly918Val)
n.2693G>T
c.2777G>T (p.Gly926Val)
c.1499G>T (p.Gly500Val)
c.2327G>T (p.Gly776Val)
c.2303G>T (p.Gly768Val)
n.2708G>T
7g.143351752A>CCA458542539CLCN1c.2754A>C (p.Gly918=)
n.2694A>C
c.2778A>C (p.Gly926=)
c.1500A>C (p.Gly500=)
c.2328A>C (p.Gly776=)
c.2304A>C (p.Gly768=)
n.2709A>C
7g.143351752A>GCA458542541CLCN1c.2754A>G (p.Gly918=)
n.2694A>G
c.2778A>G (p.Gly926=)
c.1500A>G (p.Gly500=)
c.2328A>G (p.Gly776=)
c.2304A>G (p.Gly768=)
n.2709A>G
7g.143351752A>TCA458542542CLCN1c.2754A>T (p.Gly918=)
n.2694A>T
c.2778A>T (p.Gly926=)
c.1500A>T (p.Gly500=)
c.2328A>T (p.Gly776=)
c.2304A>T (p.Gly768=)
n.2709A>T
7g.143351753A>CCA369653746CLCN1c.2755A>C (p.Thr919Pro)
n.2695A>C
c.2779A>C (p.Thr927Pro)
c.1501A>C (p.Thr501Pro)
c.2329A>C (p.Thr777Pro)
c.2305A>C (p.Thr769Pro)
n.2710A>C
7g.143351753A>GCA369653747CLCN1c.2755A>G (p.Thr919Ala)
n.2695A>G
c.2779A>G (p.Thr927Ala)
c.1501A>G (p.Thr501Ala)
c.2329A>G (p.Thr777Ala)
c.2305A>G (p.Thr769Ala)
n.2710A>G
7g.143351753A>TCA369653748CLCN1c.2755A>T (p.Thr919Ser)
n.2695A>T
c.2779A>T (p.Thr927Ser)
c.1501A>T (p.Thr501Ser)
c.2329A>T (p.Thr777Ser)
c.2305A>T (p.Thr769Ser)
n.2710A>T
7g.143351754C>ACA369653751CLCN1c.2756C>A (p.Thr919Lys)
n.2696C>A
c.2780C>A (p.Thr927Lys)
c.1502C>A (p.Thr501Lys)
c.2330C>A (p.Thr777Lys)
c.2306C>A (p.Thr769Lys)
n.2711C>A
7g.143351754C>GCA369653749CLCN1c.2756C>G (p.Thr919Arg)
n.2696C>G
c.2780C>G (p.Thr927Arg)
c.1502C>G (p.Thr501Arg)
c.2330C>G (p.Thr777Arg)
c.2306C>G (p.Thr769Arg)
n.2711C>G
7g.143351754C>TCA369653750CLCN1c.2756C>T (p.Thr919Ile)
n.2696C>T
c.2780C>T (p.Thr927Ile)
c.1502C>T (p.Thr501Ile)
c.2330C>T (p.Thr777Ile)
c.2306C>T (p.Thr769Ile)
n.2711C>T
7g.143351755A=CA1748898312CLCN1c.2757A= (p.Thr919=)
n.2697A=
c.2781A= (p.Thr927=)
c.1503A= (p.Thr501=)
c.2331A= (p.Thr777=)
c.2307A= (p.Thr769=)
n.2712A=
7g.143351755A>CCA458542544CLCN1c.2757A>C (p.Thr919=)
n.2697A>C
c.2781A>C (p.Thr927=)
c.1503A>C (p.Thr501=)
c.2331A>C (p.Thr777=)
c.2307A>C (p.Thr769=)
n.2712A>C
7g.143351755A>GCA168231571CLCN1c.2757A>G (p.Thr919=)
n.2697A>G
c.2781A>G (p.Thr927=)
c.1503A>G (p.Thr501=)
c.2331A>G (p.Thr777=)
c.2307A>G (p.Thr769=)
n.2712A>G
 ClinVar dbSNP
7g.143351755A>TCA458542545CLCN1c.2757A>T (p.Thr919=)
n.2697A>T
c.2781A>T (p.Thr927=)
c.1503A>T (p.Thr501=)
c.2331A>T (p.Thr777=)
c.2307A>T (p.Thr769=)
n.2712A>T
7g.143351756G>ACA4537780CLCN1c.2758G>A (p.Gly920Arg)
n.2698G>A
c.2782G>A (p.Gly928Arg)
c.1504G>A (p.Gly502Arg)
c.2332G>A (p.Gly778Arg)
c.2308G>A (p.Gly770Arg)
n.2713G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351756G>CCA369653752CLCN1c.2758G>C (p.Gly920Arg)
n.2698G>C
c.2782G>C (p.Gly928Arg)
c.1504G>C (p.Gly502Arg)
c.2332G>C (p.Gly778Arg)
c.2308G>C (p.Gly770Arg)
n.2713G>C
7g.143351756G=CA1748898313CLCN1c.2758G= (p.Gly920=)
n.2698G=
c.2782G= (p.Gly928=)
c.1504G= (p.Gly502=)
c.2332G= (p.Gly778=)
c.2308G= (p.Gly770=)
n.2713G=
7g.143351756G>TCA369653753CLCN1c.2758G>T (p.Gly920Trp)
n.2698G>T
c.2782G>T (p.Gly928Trp)
c.1504G>T (p.Gly502Trp)
c.2332G>T (p.Gly778Trp)
c.2308G>T (p.Gly770Trp)
n.2713G>T
7g.143351757G>ACA4537781CLCN1c.2759G>A (p.Gly920Glu)
n.2699G>A
c.2783G>A (p.Gly928Glu)
c.1505G>A (p.Gly502Glu)
c.2333G>A (p.Gly778Glu)
c.2309G>A (p.Gly770Glu)
n.2714G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351757G>CCA369653754CLCN1c.2759G>C (p.Gly920Ala)
n.2699G>C
c.2783G>C (p.Gly928Ala)
c.1505G>C (p.Gly502Ala)
c.2333G>C (p.Gly778Ala)
c.2309G>C (p.Gly770Ala)
n.2714G>C
7g.143351757G=CA1748898314CLCN1c.2759G= (p.Gly920=)
n.2699G=
c.2783G= (p.Gly928=)
c.1505G= (p.Gly502=)
c.2333G= (p.Gly778=)
c.2309G= (p.Gly770=)
n.2714G=
7g.143351757G>TCA369653755CLCN1c.2759G>T (p.Gly920Val)
n.2699G>T
c.2783G>T (p.Gly928Val)
c.1505G>T (p.Gly502Val)
c.2333G>T (p.Gly778Val)
c.2309G>T (p.Gly770Val)
n.2714G>T
7g.143351758G>ACA458542549CLCN1c.2760G>A (p.Gly920=)
n.2700G>A
c.2784G>A (p.Gly928=)
c.1506G>A (p.Gly502=)
c.2334G>A (p.Gly778=)
c.2310G>A (p.Gly770=)
n.2715G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.143351758G>CCA458542550CLCN1c.2760G>C (p.Gly920=)
n.2700G>C
c.2784G>C (p.Gly928=)
c.1506G>C (p.Gly502=)
c.2334G>C (p.Gly778=)
c.2310G>C (p.Gly770=)
n.2715G>C
7g.143351758G=CA1748898315CLCN1c.2760G= (p.Gly920=)
n.2700G=
c.2784G= (p.Gly928=)
c.1506G= (p.Gly502=)
c.2334G= (p.Gly778=)
c.2310G= (p.Gly770=)
n.2715G=
7g.143351758G>TCA458542551CLCN1c.2760G>T (p.Gly920=)
n.2700G>T
c.2784G>T (p.Gly928=)
c.1506G>T (p.Gly502=)
c.2334G>T (p.Gly778=)
c.2310G>T (p.Gly770=)
n.2715G>T
7g.143351759G>ACA168231581CLCN1c.2761G>A (p.Asp921Asn)
n.2701G>A
c.2785G>A (p.Asp929Asn)
c.1507G>A (p.Asp503Asn)
c.2335G>A (p.Asp779Asn)
c.2311G>A (p.Asp771Asn)
n.2716G>A
 dbSNP gnomAD v4
7g.143351759G>CCA369653757CLCN1c.2761G>C (p.Asp921His)
n.2701G>C
c.2785G>C (p.Asp929His)
c.1507G>C (p.Asp503His)
c.2335G>C (p.Asp779His)
c.2311G>C (p.Asp771His)
n.2716G>C
7g.143351759G=CA1748898316CLCN1c.2761G= (p.Asp921=)
n.2701G=
c.2785G= (p.Asp929=)
c.1507G= (p.Asp503=)
c.2335G= (p.Asp779=)
c.2311G= (p.Asp771=)
n.2716G=
7g.143351759G>TCA369653756CLCN1c.2761G>T (p.Asp921Tyr)
n.2701G>T
c.2785G>T (p.Asp929Tyr)
c.1507G>T (p.Asp503Tyr)
c.2335G>T (p.Asp779Tyr)
c.2311G>T (p.Asp771Tyr)
n.2716G>T
 dbSNP gnomAD v4
7g.143351760A>CCA369653758CLCN1c.2762A>C (p.Asp921Ala)
n.2702A>C
c.2786A>C (p.Asp929Ala)
c.1508A>C (p.Asp503Ala)
c.2336A>C (p.Asp779Ala)
c.2312A>C (p.Asp771Ala)
n.2717A>C
7g.143351760A>GCA369653760CLCN1c.2762A>G (p.Asp921Gly)
n.2702A>G
c.2786A>G (p.Asp929Gly)
c.1508A>G (p.Asp503Gly)
c.2336A>G (p.Asp779Gly)
c.2312A>G (p.Asp771Gly)
n.2717A>G
7g.143351760A>TCA369653759CLCN1c.2762A>T (p.Asp921Val)
n.2702A>T
c.2786A>T (p.Asp929Val)
c.1508A>T (p.Asp503Val)
c.2336A>T (p.Asp779Val)
c.2312A>T (p.Asp771Val)
n.2717A>T
7g.143351760_143351762delinsATGCA1748898317CLCN1c.2762_2764delinsATG (p.Asp921=)
n.2702_2704delinsATG
c.2786_2788delinsATG (p.Asp929=)
c.1508_1510delinsATG (p.Asp503=)
c.2336_2338delinsATG (p.Asp779=)
c.2312_2314delinsATG (p.Asp771=)
n.2717_2719delinsATG
7g.143351761T>ACA369653761CLCN1c.2763T>A (p.Asp921Glu)
n.2703T>A
c.2787T>A (p.Asp929Glu)
c.1509T>A (p.Asp503Glu)
c.2337T>A (p.Asp779Glu)
c.2313T>A (p.Asp771Glu)
n.2718T>A
7g.143351761T>CCA458542556CLCN1c.2763T>C (p.Asp921=)
n.2703T>C
c.2787T>C (p.Asp929=)
c.1509T>C (p.Asp503=)
c.2337T>C (p.Asp779=)
c.2313T>C (p.Asp771=)
n.2718T>C
 gnomAD v4
7g.143351761T>GCA369653762CLCN1c.2763T>G (p.Asp921Glu)
n.2703T>G
c.2787T>G (p.Asp929Glu)
c.1509T>G (p.Asp503Glu)
c.2337T>G (p.Asp779Glu)
c.2313T>G (p.Asp771Glu)
n.2718T>G
7g.143351763_143351764delCA891842700CLCN1c.2765_2766del (p.Val922AspfsTer?)
n.2705_2706del
c.2789_2790del (p.Val930AspfsTer?)
c.1511_1512del (p.Val504AspfsTer?)
c.2339_2340del (p.Val780AspfsTer?)
c.2315_2316del (p.Val772AspfsTer?)
n.2720_2721del
 ClinVar dbSNP gnomAD v4
7g.143351762G>ACA168231592CLCN1c.2764G>A (p.Val922Met)
n.2704G>A
c.2788G>A (p.Val930Met)
c.1510G>A (p.Val504Met)
c.2338G>A (p.Val780Met)
c.2314G>A (p.Val772Met)
n.2719G>A
 dbSNP gnomAD v3 gnomAD v4
7g.143351762G>CCA369653763CLCN1c.2764G>C (p.Val922Leu)
n.2704G>C
c.2788G>C (p.Val930Leu)
c.1510G>C (p.Val504Leu)
c.2338G>C (p.Val780Leu)
c.2314G>C (p.Val772Leu)
n.2719G>C
7g.143351762G=CA1748898318CLCN1c.2764G= (p.Val922=)
n.2704G=
c.2788G= (p.Val930=)
c.1510G= (p.Val504=)
c.2338G= (p.Val780=)
c.2314G= (p.Val772=)
n.2719G=
7g.143351762G>TCA369653764CLCN1c.2764G>T (p.Val922Leu)
n.2704G>T
c.2788G>T (p.Val930Leu)
c.1510G>T (p.Val504Leu)
c.2338G>T (p.Val780Leu)
c.2314G>T (p.Val772Leu)
n.2719G>T
7g.143351763T>ACA369653765CLCN1c.2765T>A (p.Val922Glu)
n.2705T>A
c.2789T>A (p.Val930Glu)
c.1511T>A (p.Val504Glu)
c.2339T>A (p.Val780Glu)
c.2315T>A (p.Val772Glu)
n.2720T>A
7g.143351763T>CCA369653766CLCN1c.2765T>C (p.Val922Ala)
n.2705T>C
c.2789T>C (p.Val930Ala)
c.1511T>C (p.Val504Ala)
c.2339T>C (p.Val780Ala)
c.2315T>C (p.Val772Ala)
n.2720T>C
7g.143351763T>GCA369653767CLCN1c.2765T>G (p.Val922Gly)
n.2705T>G
c.2789T>G (p.Val930Gly)
c.1511T>G (p.Val504Gly)
c.2339T>G (p.Val780Gly)
c.2315T>G (p.Val772Gly)
n.2720T>G
 gnomAD v4
7g.143351764G>ACA458542567CLCN1c.2766G>A (p.Val922=)
n.2706G>A
c.2790G>A (p.Val930=)
c.1512G>A (p.Val504=)
c.2340G>A (p.Val780=)
c.2316G>A (p.Val772=)
n.2721G>A
7g.143351764G>CCA458542570CLCN1c.2766G>C (p.Val922=)
n.2706G>C
c.2790G>C (p.Val930=)
c.1512G>C (p.Val504=)
c.2340G>C (p.Val780=)
c.2316G>C (p.Val772=)
n.2721G>C
7g.143351764G>TCA458542571CLCN1c.2766G>T (p.Val922=)
n.2706G>T
c.2790G>T (p.Val930=)
c.1512G>T (p.Val504=)
c.2340G>T (p.Val780=)
c.2316G>T (p.Val772=)
n.2721G>T
7g.143351765A>CCA369653768CLCN1c.2767A>C (p.Ile923Leu)
n.2707A>C
c.2791A>C (p.Ile931Leu)
c.1513A>C (p.Ile505Leu)
c.2341A>C (p.Ile781Leu)
c.2317A>C (p.Ile773Leu)
n.2722A>C
7g.143351765A>GCA369653769CLCN1c.2767A>G (p.Ile923Val)
n.2707A>G
c.2791A>G (p.Ile931Val)
c.1513A>G (p.Ile505Val)
c.2341A>G (p.Ile781Val)
c.2317A>G (p.Ile773Val)
n.2722A>G
7g.143351765A>TCA369653770CLCN1c.2767A>T (p.Ile923Phe)
n.2707A>T
c.2791A>T (p.Ile931Phe)
c.1513A>T (p.Ile505Phe)
c.2341A>T (p.Ile781Phe)
c.2317A>T (p.Ile773Phe)
n.2722A>T
7g.143351766T>ACA369653774CLCN1c.2768T>A (p.Ile923Asn)
n.2708T>A
c.2792T>A (p.Ile931Asn)
c.1514T>A (p.Ile505Asn)
c.2342T>A (p.Ile781Asn)
c.2318T>A (p.Ile773Asn)
n.2723T>A
7g.143351766T>CCA369653773CLCN1c.2768T>C (p.Ile923Thr)
n.2708T>C
c.2792T>C (p.Ile931Thr)
c.1514T>C (p.Ile505Thr)
c.2342T>C (p.Ile781Thr)
c.2318T>C (p.Ile773Thr)
n.2723T>C
 gnomAD v4
7g.143351766T>GCA369653772CLCN1c.2768T>G (p.Ile923Ser)
n.2708T>G
c.2792T>G (p.Ile931Ser)
c.1514T>G (p.Ile505Ser)
c.2342T>G (p.Ile781Ser)
c.2318T>G (p.Ile773Ser)
n.2723T>G
7g.143351767delCA2778231040CLCN1c.2769del (p.Ile923MetfsTer25)
n.2709del
c.2793del (p.Ile931MetfsTer25)
c.1515del (p.Ile505MetfsTer25)
c.2343del (p.Ile781MetfsTer25)
c.2319del (p.Ile773MetfsTer25)
n.2724del
7g.143351767T>ACA458542578CLCN1c.2769T>A (p.Ile923=)
n.2709T>A
c.2793T>A (p.Ile931=)
c.1515T>A (p.Ile505=)
c.2343T>A (p.Ile781=)
c.2319T>A (p.Ile773=)
n.2724T>A
7g.143351767T>CCA4537782CLCN1c.2769T>C (p.Ile923=)
n.2709T>C
c.2793T>C (p.Ile931=)
c.1515T>C (p.Ile505=)
c.2343T>C (p.Ile781=)
c.2319T>C (p.Ile773=)
n.2724T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351767T>GCA369653775CLCN1c.2769T>G (p.Ile923Met)
n.2709T>G
c.2793T>G (p.Ile931Met)
c.1515T>G (p.Ile505Met)
c.2343T>G (p.Ile781Met)
c.2319T>G (p.Ile773Met)
n.2724T>G
7g.143351767T=CA1748898319CLCN1c.2769T= (p.Ile923=)
n.2709T=
c.2793T= (p.Ile931=)
c.1515T= (p.Ile505=)
c.2343T= (p.Ile781=)
c.2319T= (p.Ile773=)
n.2724T=
7g.143351768G>ACA369653776CLCN1c.2770G>A (p.Ala924Thr)
n.2710G>A
c.2794G>A (p.Ala932Thr)
c.1516G>A (p.Ala506Thr)
c.2344G>A (p.Ala782Thr)
c.2320G>A (p.Ala774Thr)
n.2725G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351768G>CCA369653777CLCN1c.2770G>C (p.Ala924Pro)
n.2710G>C
c.2794G>C (p.Ala932Pro)
c.1516G>C (p.Ala506Pro)
c.2344G>C (p.Ala782Pro)
c.2320G>C (p.Ala774Pro)
n.2725G>C
7g.143351768G=CA1748898320CLCN1c.2770G= (p.Ala924=)
n.2710G=
c.2794G= (p.Ala932=)
c.1516G= (p.Ala506=)
c.2344G= (p.Ala782=)
c.2320G= (p.Ala774=)
n.2725G=
7g.143351768G>TCA369653778CLCN1c.2770G>T (p.Ala924Ser)
n.2710G>T
c.2794G>T (p.Ala932Ser)
c.1516G>T (p.Ala506Ser)
c.2344G>T (p.Ala782Ser)
c.2320G>T (p.Ala774Ser)
n.2725G>T
7g.143351769C>ACA369653779CLCN1c.2771C>A (p.Ala924Asp)
n.2711C>A
c.2795C>A (p.Ala932Asp)
c.1517C>A (p.Ala506Asp)
c.2345C>A (p.Ala782Asp)
c.2321C>A (p.Ala774Asp)
n.2726C>A
7g.143351769C>GCA369653780CLCN1c.2771C>G (p.Ala924Gly)
n.2711C>G
c.2795C>G (p.Ala932Gly)
c.1517C>G (p.Ala506Gly)
c.2345C>G (p.Ala782Gly)
c.2321C>G (p.Ala774Gly)
n.2726C>G
7g.143351769C>TCA369653781CLCN1c.2771C>T (p.Ala924Val)
n.2711C>T
c.2795C>T (p.Ala932Val)
c.1517C>T (p.Ala506Val)
c.2345C>T (p.Ala782Val)
c.2321C>T (p.Ala774Val)
n.2726C>T
7g.143351770T>ACA4537783CLCN1c.2772T>A (p.Ala924=)
n.2712T>A
c.2796T>A (p.Ala932=)
c.1518T>A (p.Ala506=)
c.2346T>A (p.Ala782=)
c.2322T>A (p.Ala774=)
n.2727T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351770T>CCA458542585CLCN1c.2772T>C (p.Ala924=)
n.2712T>C
c.2796T>C (p.Ala932=)
c.1518T>C (p.Ala506=)
c.2346T>C (p.Ala782=)
c.2322T>C (p.Ala774=)
n.2727T>C
7g.143351770T>GCA458542587CLCN1c.2772T>G (p.Ala924=)
n.2712T>G
c.2796T>G (p.Ala932=)
c.1518T>G (p.Ala506=)
c.2346T>G (p.Ala782=)
c.2322T>G (p.Ala774=)
n.2727T>G
7g.143351770T=CA1748898321CLCN1c.2772T= (p.Ala924=)
n.2712T=
c.2796T= (p.Ala932=)
c.1518T= (p.Ala506=)
c.2346T= (p.Ala782=)
c.2322T= (p.Ala774=)
n.2727T=
7g.143351771G>ACA369653782CLCN1c.2773G>A (p.Ala925Thr)
n.2713G>A
c.2797G>A (p.Ala933Thr)
c.1519G>A (p.Ala507Thr)
c.2347G>A (p.Ala783Thr)
c.2323G>A (p.Ala775Thr)
n.2728G>A
7g.143351771G>CCA369653783CLCN1c.2773G>C (p.Ala925Pro)
n.2713G>C
c.2797G>C (p.Ala933Pro)
c.1519G>C (p.Ala507Pro)
c.2347G>C (p.Ala783Pro)
c.2323G>C (p.Ala775Pro)
n.2728G>C
7g.143351771G>TCA369653784CLCN1c.2773G>T (p.Ala925Ser)
n.2713G>T
c.2797G>T (p.Ala933Ser)
c.1519G>T (p.Ala507Ser)
c.2347G>T (p.Ala783Ser)
c.2323G>T (p.Ala775Ser)
n.2728G>T
7g.143351772C>ACA369653787CLCN1c.2774C>A (p.Ala925Asp)
n.2714C>A
c.2798C>A (p.Ala933Asp)
c.1520C>A (p.Ala507Asp)
c.2348C>A (p.Ala783Asp)
c.2324C>A (p.Ala775Asp)
n.2729C>A
7g.143351772C>GCA369653786CLCN1c.2774C>G (p.Ala925Gly)
n.2714C>G
c.2798C>G (p.Ala933Gly)
c.1520C>G (p.Ala507Gly)
c.2348C>G (p.Ala783Gly)
c.2324C>G (p.Ala775Gly)
n.2729C>G
7g.143351772C>TCA369653785CLCN1c.2774C>T (p.Ala925Val)
n.2714C>T
c.2798C>T (p.Ala933Val)
c.1520C>T (p.Ala507Val)
c.2348C>T (p.Ala783Val)
c.2324C>T (p.Ala775Val)
n.2729C>T
7g.143351773C>ACA458542593CLCN1c.2775C>A (p.Ala925=)
n.2715C>A
c.2799C>A (p.Ala933=)
c.1521C>A (p.Ala507=)
c.2349C>A (p.Ala783=)
c.2325C>A (p.Ala775=)
n.2730C>A
7g.143351773C=CA1748898322CLCN1c.2775C= (p.Ala925=)
n.2715C=
c.2799C= (p.Ala933=)
c.1521C= (p.Ala507=)
c.2349C= (p.Ala783=)
c.2325C= (p.Ala775=)
n.2730C=
7g.143351773C>GCA458542591CLCN1c.2775C>G (p.Ala925=)
n.2715C>G
c.2799C>G (p.Ala933=)
c.1521C>G (p.Ala507=)
c.2349C>G (p.Ala783=)
c.2325C>G (p.Ala775=)
n.2730C>G
7g.143351773C>TCA458542592CLCN1c.2775C>T (p.Ala925=)
n.2715C>T
c.2799C>T (p.Ala933=)
c.1521C>T (p.Ala507=)
c.2349C>T (p.Ala783=)
c.2325C>T (p.Ala775=)
n.2730C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351774T>ACA369653790CLCN1c.2776T>A (p.Ser926Thr)
n.2716T>A
c.2800T>A (p.Ser934Thr)
c.1522T>A (p.Ser508Thr)
c.2350T>A (p.Ser784Thr)
c.2326T>A (p.Ser776Thr)
n.2731T>A
7g.143351774T>CCA369653788CLCN1c.2776T>C (p.Ser926Pro)
n.2716T>C
c.2800T>C (p.Ser934Pro)
c.1522T>C (p.Ser508Pro)
c.2350T>C (p.Ser784Pro)
c.2326T>C (p.Ser776Pro)
n.2731T>C
7g.143351774T>GCA369653789CLCN1c.2776T>G (p.Ser926Ala)
n.2716T>G
c.2800T>G (p.Ser934Ala)
c.1522T>G (p.Ser508Ala)
c.2350T>G (p.Ser784Ala)
c.2326T>G (p.Ser776Ala)
n.2731T>G
7g.143351774T=CA1748898323CLCN1c.2776T= (p.Ser926=)
n.2716T=
c.2800T= (p.Ser934=)
c.1522T= (p.Ser508=)
c.2350T= (p.Ser784=)
c.2326T= (p.Ser776=)
n.2731T=
7g.143351775C>ACA369653791CLCN1c.2777C>A (p.Ser926Tyr)
n.2717C>A
c.2801C>A (p.Ser934Tyr)
c.1523C>A (p.Ser508Tyr)
c.2351C>A (p.Ser784Tyr)
c.2327C>A (p.Ser776Tyr)
n.2732C>A
7g.143351775C>GCA369653792CLCN1c.2777C>G (p.Ser926Cys)
n.2717C>G
c.2801C>G (p.Ser934Cys)
c.1523C>G (p.Ser508Cys)
c.2351C>G (p.Ser784Cys)
c.2327C>G (p.Ser776Cys)
n.2732C>G
7g.143351775C>TCA369653793CLCN1c.2777C>T (p.Ser926Phe)
n.2717C>T
c.2801C>T (p.Ser934Phe)
c.1523C>T (p.Ser508Phe)
c.2351C>T (p.Ser784Phe)
c.2327C>T (p.Ser776Phe)
n.2732C>T
7g.143351778dupCA1748898324CLCN1c.2780dup (p.Glu928ArgfsTer?)
n.2720dup
c.2804dup (p.Glu936ArgfsTer?)
c.1526dup (p.Glu510ArgfsTer?)
c.2354dup (p.Glu786ArgfsTer?)
c.2330dup (p.Glu778ArgfsTer?)
n.2735dup
 dbSNP
7g.143351776C>ACA458542596CLCN1c.2778C>A (p.Ser926=)
n.2718C>A
c.2802C>A (p.Ser934=)
c.1524C>A (p.Ser508=)
c.2352C>A (p.Ser784=)
c.2328C>A (p.Ser776=)
n.2733C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351776C=CA1748898325CLCN1c.2778C= (p.Ser926=)
n.2718C=
c.2802C= (p.Ser934=)
c.1524C= (p.Ser508=)
c.2352C= (p.Ser784=)
c.2328C= (p.Ser776=)
n.2733C=
7g.143351776C>GCA458542598CLCN1c.2778C>G (p.Ser926=)
n.2718C>G
c.2802C>G (p.Ser934=)
c.1524C>G (p.Ser508=)
c.2352C>G (p.Ser784=)
c.2328C>G (p.Ser776=)
n.2733C>G
7g.143351776C>TCA458542600CLCN1c.2778C>T (p.Ser926=)
n.2718C>T
c.2802C>T (p.Ser934=)
c.1524C>T (p.Ser508=)
c.2352C>T (p.Ser784=)
c.2328C>T (p.Ser776=)
n.2733C>T
 ClinVar gnomAD v4
7g.143351777C>ACA369653796CLCN1c.2779C>A (p.Pro927Thr)
n.2719C>A
c.2803C>A (p.Pro935Thr)
c.1525C>A (p.Pro509Thr)
c.2353C>A (p.Pro785Thr)
c.2329C>A (p.Pro777Thr)
n.2734C>A
7g.143351777C>GCA369653795CLCN1c.2779C>G (p.Pro927Ala)
n.2719C>G
c.2803C>G (p.Pro935Ala)
c.1525C>G (p.Pro509Ala)
c.2353C>G (p.Pro785Ala)
c.2329C>G (p.Pro777Ala)
n.2734C>G
 gnomAD v4
7g.143351777C>TCA369653794CLCN1c.2779C>T (p.Pro927Ser)
n.2719C>T
c.2803C>T (p.Pro935Ser)
c.1525C>T (p.Pro509Ser)
c.2353C>T (p.Pro785Ser)
c.2329C>T (p.Pro777Ser)
n.2734C>T
7g.143351778C>ACA369653797CLCN1c.2780C>A (p.Pro927Gln)
n.2720C>A
c.2804C>A (p.Pro935Gln)
c.1526C>A (p.Pro509Gln)
c.2354C>A (p.Pro785Gln)
c.2330C>A (p.Pro777Gln)
n.2735C>A
7g.143351778C=CA1748898326CLCN1c.2780C= (p.Pro927=)
n.2720C=
c.2804C= (p.Pro935=)
c.1526C= (p.Pro509=)
c.2354C= (p.Pro785=)
c.2330C= (p.Pro777=)
n.2735C=
7g.143351778C>GCA369653798CLCN1c.2780C>G (p.Pro927Arg)
n.2720C>G
c.2804C>G (p.Pro935Arg)
c.1526C>G (p.Pro509Arg)
c.2354C>G (p.Pro785Arg)
c.2330C>G (p.Pro777Arg)
n.2735C>G
7g.143351778C>TCA369653799CLCN1c.2780C>T (p.Pro927Leu)
n.2720C>T
c.2804C>T (p.Pro935Leu)
c.1526C>T (p.Pro509Leu)
c.2354C>T (p.Pro785Leu)
c.2330C>T (p.Pro777Leu)
n.2735C>T
 dbSNP
7g.143351779A>CCA458542604CLCN1c.2781A>C (p.Pro927=)
n.2721A>C
c.2805A>C (p.Pro935=)
c.1527A>C (p.Pro509=)
c.2355A>C (p.Pro785=)
c.2331A>C (p.Pro777=)
n.2736A>C
7g.143351779A>GCA458542605CLCN1c.2781A>G (p.Pro927=)
n.2721A>G
c.2805A>G (p.Pro935=)
c.1527A>G (p.Pro509=)
c.2355A>G (p.Pro785=)
c.2331A>G (p.Pro777=)
n.2736A>G
7g.143351779A>TCA458542606CLCN1c.2781A>T (p.Pro927=)
n.2721A>T
c.2805A>T (p.Pro935=)
c.1527A>T (p.Pro509=)
c.2355A>T (p.Pro785=)
c.2331A>T (p.Pro777=)
n.2736A>T
7g.143351782_143351783delCA2740094943CLCN1c.2784_2785del (p.Glu928AspfsTer?)
n.2724_2725del
c.2808_2809del (p.Glu936AspfsTer?)
c.1530_1531del (p.Glu510AspfsTer?)
c.2358_2359del (p.Glu786AspfsTer?)
c.2334_2335del (p.Glu778AspfsTer?)
n.2739_2740del
 ClinVar
7g.143351780G>ACA369653800CLCN1c.2782G>A (p.Glu928Lys)
n.2722G>A
c.2806G>A (p.Glu936Lys)
c.1528G>A (p.Glu510Lys)
c.2356G>A (p.Glu786Lys)
c.2332G>A (p.Glu778Lys)
n.2737G>A
 ClinVar dbSNP gnomAD v4
7g.143351780G>CCA369653801CLCN1c.2782G>C (p.Glu928Gln)
n.2722G>C
c.2806G>C (p.Glu936Gln)
c.1528G>C (p.Glu510Gln)
c.2356G>C (p.Glu786Gln)
c.2332G>C (p.Glu778Gln)
n.2737G>C
7g.143351780G=CA1748898327CLCN1c.2782G= (p.Glu928=)
n.2722G=
c.2806G= (p.Glu936=)
c.1528G= (p.Glu510=)
c.2356G= (p.Glu786=)
c.2332G= (p.Glu778=)
n.2737G=
7g.143351780G>TCA369653802CLCN1c.2782G>T (p.Glu928Ter)
n.2722G>T
c.2806G>T (p.Glu936Ter)
c.1528G>T (p.Glu510Ter)
c.2356G>T (p.Glu786Ter)
c.2332G>T (p.Glu778Ter)
n.2737G>T
7g.143351781A>CCA369653803CLCN1c.2783A>C (p.Glu928Ala)
n.2723A>C
c.2807A>C (p.Glu936Ala)
c.1529A>C (p.Glu510Ala)
c.2357A>C (p.Glu786Ala)
c.2333A>C (p.Glu778Ala)
n.2738A>C
7g.143351781A>GCA369653805CLCN1c.2783A>G (p.Glu928Gly)
n.2723A>G
c.2807A>G (p.Glu936Gly)
c.1529A>G (p.Glu510Gly)
c.2357A>G (p.Glu786Gly)
c.2333A>G (p.Glu778Gly)
n.2738A>G
7g.143351781A>TCA369653804CLCN1c.2783A>T (p.Glu928Val)
n.2723A>T
c.2807A>T (p.Glu936Val)
c.1529A>T (p.Glu510Val)
c.2357A>T (p.Glu786Val)
c.2333A>T (p.Glu778Val)
n.2738A>T
7g.143351782G>ACA458542610CLCN1c.2784G>A (p.Glu928=)
n.2724G>A
c.2808G>A (p.Glu936=)
c.1530G>A (p.Glu510=)
c.2358G>A (p.Glu786=)
c.2334G>A (p.Glu778=)
n.2739G>A
 dbSNP
7g.143351782G>CCA369653806CLCN1c.2784G>C (p.Glu928Asp)
n.2724G>C
c.2808G>C (p.Glu936Asp)
c.1530G>C (p.Glu510Asp)
c.2358G>C (p.Glu786Asp)
c.2334G>C (p.Glu778Asp)
n.2739G>C
7g.143351782G=CA1748898328CLCN1c.2784G= (p.Glu928=)
n.2724G=
c.2808G= (p.Glu936=)
c.1530G= (p.Glu510=)
c.2358G= (p.Glu786=)
c.2334G= (p.Glu778=)
n.2739G=
7g.143351782G>TCA369653807CLCN1c.2784G>T (p.Glu928Asp)
n.2724G>T
c.2808G>T (p.Glu936Asp)
c.1530G>T (p.Glu510Asp)
c.2358G>T (p.Glu786Asp)
c.2334G>T (p.Glu778Asp)
n.2739G>T
 COSMIC
7g.143351783A=CA1748898329CLCN1c.2785A= (p.Thr929=)
n.2725A=
c.2809A= (p.Thr937=)
c.1531A= (p.Thr511=)
c.2359A= (p.Thr787=)
c.2335A= (p.Thr779=)
n.2740A=
7g.143351783A>CCA369653808CLCN1c.2785A>C (p.Thr929Pro)
n.2725A>C
c.2809A>C (p.Thr937Pro)
c.1531A>C (p.Thr511Pro)
c.2359A>C (p.Thr787Pro)
c.2335A>C (p.Thr779Pro)
n.2740A>C
7g.143351783A>GCA369653809CLCN1c.2785A>G (p.Thr929Ala)
n.2725A>G
c.2809A>G (p.Thr937Ala)
c.1531A>G (p.Thr511Ala)
c.2359A>G (p.Thr787Ala)
c.2335A>G (p.Thr779Ala)
n.2740A>G
7g.143351783A>TCA4537785CLCN1c.2785A>T (p.Thr929Ser)
n.2725A>T
c.2809A>T (p.Thr937Ser)
c.1531A>T (p.Thr511Ser)
c.2359A>T (p.Thr787Ser)
c.2335A>T (p.Thr779Ser)
n.2740A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351783_143351784delinsACCA1748898330CLCN1c.2785_2786delinsAC (p.Thr929=)
n.2725_2726delinsAC
c.2809_2810delinsAC (p.Thr937=)
c.1531_1532delinsAC (p.Thr511=)
c.2359_2360delinsAC (p.Thr787=)
c.2335_2336delinsAC (p.Thr779=)
n.2740_2741delinsAC
7g.143351784C>ACA369653810CLCN1c.2786C>A (p.Thr929Asn)
n.2726C>A
c.2810C>A (p.Thr937Asn)
c.1532C>A (p.Thr511Asn)
c.2360C>A (p.Thr787Asn)
c.2336C>A (p.Thr779Asn)
n.2741C>A
 dbSNP gnomAD v2 gnomAD v4
7g.143351784C=CA1748898331CLCN1c.2786C= (p.Thr929=)
n.2726C=
c.2810C= (p.Thr937=)
c.1532C= (p.Thr511=)
c.2360C= (p.Thr787=)
c.2336C= (p.Thr779=)
n.2741C=
7g.143351784C>GCA369653811CLCN1c.2786C>G (p.Thr929Ser)
n.2726C>G
c.2810C>G (p.Thr937Ser)
c.1532C>G (p.Thr511Ser)
c.2360C>G (p.Thr787Ser)
c.2336C>G (p.Thr779Ser)
n.2741C>G
7g.143351784C>TCA4537786CLCN1c.2786C>T (p.Thr929Ile)
n.2726C>T
c.2810C>T (p.Thr937Ile)
c.1532C>T (p.Thr511Ile)
c.2360C>T (p.Thr787Ile)
c.2336C>T (p.Thr779Ile)
n.2741C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351787delCA4537784CLCN1c.2789del (p.Pro930LeufsTer18)
n.2729del
c.2813del (p.Pro938LeufsTer18)
c.1535del (p.Pro512LeufsTer18)
c.2363del (p.Pro788LeufsTer18)
c.2339del (p.Pro780LeufsTer18)
n.2744del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351785C>ACA458542617CLCN1c.2787C>A (p.Thr929=)
n.2727C>A
c.2811C>A (p.Thr937=)
c.1533C>A (p.Thr511=)
c.2361C>A (p.Thr787=)
c.2337C>A (p.Thr779=)
n.2742C>A
7g.143351785C=CA1748898332CLCN1c.2787C= (p.Thr929=)
n.2727C=
c.2811C= (p.Thr937=)
c.1533C= (p.Thr511=)
c.2361C= (p.Thr787=)
c.2337C= (p.Thr779=)
n.2742C=
7g.143351785C>GCA458542618CLCN1c.2787C>G (p.Thr929=)
n.2727C>G
c.2811C>G (p.Thr937=)
c.1533C>G (p.Thr511=)
c.2361C>G (p.Thr787=)
c.2337C>G (p.Thr779=)
n.2742C>G
 gnomAD v4
7g.143351785C>TCA458542620CLCN1c.2787C>T (p.Thr929=)
n.2727C>T
c.2811C>T (p.Thr937=)
c.1533C>T (p.Thr511=)
c.2361C>T (p.Thr787=)
c.2337C>T (p.Thr779=)
n.2742C>T
 dbSNP gnomAD v4
7g.143351786C>ACA369653812CLCN1c.2788C>A (p.Pro930Thr)
n.2728C>A
c.2812C>A (p.Pro938Thr)
c.1534C>A (p.Pro512Thr)
c.2362C>A (p.Pro788Thr)
c.2338C>A (p.Pro780Thr)
n.2743C>A
7g.143351786C>GCA369653813CLCN1c.2788C>G (p.Pro930Ala)
n.2728C>G
c.2812C>G (p.Pro938Ala)
c.1534C>G (p.Pro512Ala)
c.2362C>G (p.Pro788Ala)
c.2338C>G (p.Pro780Ala)
n.2743C>G
7g.143351786C>TCA369653814CLCN1c.2788C>T (p.Pro930Ser)
n.2728C>T
c.2812C>T (p.Pro938Ser)
c.1534C>T (p.Pro512Ser)
c.2362C>T (p.Pro788Ser)
c.2338C>T (p.Pro780Ser)
n.2743C>T
7g.143351787C>ACA4537787CLCN1c.2789C>A (p.Pro930His)
n.2729C>A
c.2813C>A (p.Pro938His)
c.1535C>A (p.Pro512His)
c.2363C>A (p.Pro788His)
c.2339C>A (p.Pro780His)
n.2744C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351787C=CA1748898333CLCN1c.2789C= (p.Pro930=)
n.2729C=
c.2813C= (p.Pro938=)
c.1535C= (p.Pro512=)
c.2363C= (p.Pro788=)
c.2339C= (p.Pro780=)
n.2744C=
7g.143351787C>GCA369653816CLCN1c.2789C>G (p.Pro930Arg)
n.2729C>G
c.2813C>G (p.Pro938Arg)
c.1535C>G (p.Pro512Arg)
c.2363C>G (p.Pro788Arg)
c.2339C>G (p.Pro780Arg)
n.2744C>G
7g.143351787C>TCA369653815CLCN1c.2789C>T (p.Pro930Leu)
n.2729C>T
c.2813C>T (p.Pro938Leu)
c.1535C>T (p.Pro512Leu)
c.2363C>T (p.Pro788Leu)
c.2339C>T (p.Pro780Leu)
n.2744C>T
7g.143351788T>ACA458542630CLCN1c.2790T>A (p.Pro930=)
n.2730T>A
c.2814T>A (p.Pro938=)
c.1536T>A (p.Pro512=)
c.2364T>A (p.Pro788=)
c.2340T>A (p.Pro780=)
n.2745T>A
7g.143351788T>CCA458542629CLCN1c.2790T>C (p.Pro930=)
n.2730T>C
c.2814T>C (p.Pro938=)
c.1536T>C (p.Pro512=)
c.2364T>C (p.Pro788=)
c.2340T>C (p.Pro780=)
n.2745T>C
7g.143351788T>GCA458542627CLCN1c.2790T>G (p.Pro930=)
n.2730T>G
c.2814T>G (p.Pro938=)
c.1536T>G (p.Pro512=)
c.2364T>G (p.Pro788=)
c.2340T>G (p.Pro780=)
n.2745T>G
7g.143351789G>ACA369653817CLCN1c.2791G>A (p.Val931Met)
n.2731G>A
c.2815G>A (p.Val939Met)
c.1537G>A (p.Val513Met)
c.2365G>A (p.Val789Met)
c.2341G>A (p.Val781Met)
n.2746G>A
 gnomAD v4
7g.143351789G>CCA369653819CLCN1c.2791G>C (p.Val931Leu)
n.2731G>C
c.2815G>C (p.Val939Leu)
c.1537G>C (p.Val513Leu)
c.2365G>C (p.Val789Leu)
c.2341G>C (p.Val781Leu)
n.2746G>C
7g.143351789G>TCA369653818CLCN1c.2791G>T (p.Val931Leu)
n.2731G>T
c.2815G>T (p.Val939Leu)
c.1537G>T (p.Val513Leu)
c.2365G>T (p.Val789Leu)
c.2341G>T (p.Val781Leu)
n.2746G>T
7g.143351790T>ACA369653820CLCN1c.2792T>A (p.Val931Glu)
n.2732T>A
c.2816T>A (p.Val939Glu)
c.1538T>A (p.Val513Glu)
c.2366T>A (p.Val789Glu)
c.2342T>A (p.Val781Glu)
n.2747T>A
7g.143351790T>CCA369653821CLCN1c.2792T>C (p.Val931Ala)
n.2732T>C
c.2816T>C (p.Val939Ala)
c.1538T>C (p.Val513Ala)
c.2366T>C (p.Val789Ala)
c.2342T>C (p.Val781Ala)
n.2747T>C
7g.143351790T>GCA369653822CLCN1c.2792T>G (p.Val931Gly)
n.2732T>G
c.2816T>G (p.Val939Gly)
c.1538T>G (p.Val513Gly)
c.2366T>G (p.Val789Gly)
c.2342T>G (p.Val781Gly)
n.2747T>G
7g.143351791G>ACA458542636CLCN1c.2793G>A (p.Val931=)
n.2733G>A
c.2817G>A (p.Val939=)
c.1539G>A (p.Val513=)
c.2367G>A (p.Val789=)
c.2343G>A (p.Val781=)
n.2748G>A
 gnomAD v4
7g.143351791G>CCA458542638CLCN1c.2793G>C (p.Val931=)
n.2733G>C
c.2817G>C (p.Val939=)
c.1539G>C (p.Val513=)
c.2367G>C (p.Val789=)
c.2343G>C (p.Val781=)
n.2748G>C
7g.143351791G>TCA458542639CLCN1c.2793G>T (p.Val931=)
n.2733G>T
c.2817G>T (p.Val939=)
c.1539G>T (p.Val513=)
c.2367G>T (p.Val789=)
c.2343G>T (p.Val781=)
n.2748G>T
7g.143351792C>ACA369653823CLCN1c.2794C>A (p.Pro932Thr)
n.2734C>A
c.2818C>A (p.Pro940Thr)
c.1540C>A (p.Pro514Thr)
c.2368C>A (p.Pro790Thr)
c.2344C>A (p.Pro782Thr)
n.2749C>A
 dbSNP gnomAD v2 gnomAD v4
7g.143351792C=CA1748898334CLCN1c.2794C= (p.Pro932=)
n.2734C=
c.2818C= (p.Pro940=)
c.1540C= (p.Pro514=)
c.2368C= (p.Pro790=)
c.2344C= (p.Pro782=)
n.2749C=
7g.143351792C>GCA369653824CLCN1c.2794C>G (p.Pro932Ala)
n.2734C>G
c.2818C>G (p.Pro940Ala)
c.1540C>G (p.Pro514Ala)
c.2368C>G (p.Pro790Ala)
c.2344C>G (p.Pro782Ala)
n.2749C>G
7g.143351792C>TCA4537788CLCN1c.2794C>T (p.Pro932Ser)
n.2734C>T
c.2818C>T (p.Pro940Ser)
c.1540C>T (p.Pro514Ser)
c.2368C>T (p.Pro790Ser)
c.2344C>T (p.Pro782Ser)
n.2749C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351793C>ACA369653825CLCN1c.2795C>A (p.Pro932Gln)
n.2735C>A
c.2819C>A (p.Pro940Gln)
c.1541C>A (p.Pro514Gln)
c.2369C>A (p.Pro790Gln)
c.2345C>A (p.Pro782Gln)
n.2750C>A
7g.143351793C=CA1748898335CLCN1c.2795C= (p.Pro932=)
n.2735C=
c.2819C= (p.Pro940=)
c.1541C= (p.Pro514=)
c.2369C= (p.Pro790=)
c.2345C= (p.Pro782=)
n.2750C=
7g.143351793C>GCA369653826CLCN1c.2795C>G (p.Pro932Arg)
n.2735C>G
c.2819C>G (p.Pro940Arg)
c.1541C>G (p.Pro514Arg)
c.2369C>G (p.Pro790Arg)
c.2345C>G (p.Pro782Arg)
n.2750C>G
7g.143351793C>TCA258014CLCN1c.2795C>T (p.Pro932Leu)
n.2735C>T
c.2819C>T (p.Pro940Leu)
c.1541C>T (p.Pro514Leu)
c.2369C>T (p.Pro790Leu)
c.2345C>T (p.Pro782Leu)
n.2750C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.143351794_143351795insCACCACCAAACACACCCAACACACA2778231041CLCN1c.2796_2797insCACCACCAAACACACCCAACACA (p.Ser933HisfsTer23)
n.2736_2737insCACCACCAAACACACCCAACACA
c.2820_2821insCACCACCAAACACACCCAACACA (p.Ser941HisfsTer23)
c.1542_1543insCACCACCAAACACACCCAACACA (p.Ser515HisfsTer23)
c.2370_2371insCACCACCAAACACACCCAACACA (p.Ser791HisfsTer23)
c.2346_2347insCACCACCAAACACACCCAACACA (p.Ser783HisfsTer23)
n.2751_2752insCACCACCAAACACACCCAACACA
7g.143351794A=CA1748898336CLCN1c.2796A= (p.Pro932=)
n.2736A=
c.2820A= (p.Pro940=)
c.1542A= (p.Pro514=)
c.2370A= (p.Pro790=)
c.2346A= (p.Pro782=)
n.2751A=
7g.143351794A>CCA168231632CLCN1c.2796A>C (p.Pro932=)
n.2736A>C
c.2820A>C (p.Pro940=)
c.1542A>C (p.Pro514=)
c.2370A>C (p.Pro790=)
c.2346A>C (p.Pro782=)
n.2751A>C
 ClinVar dbSNP
7g.143351794A>GCA458542336CLCN1c.2796A>G (p.Pro932=)
n.2736A>G
c.2820A>G (p.Pro940=)
c.1542A>G (p.Pro514=)
c.2370A>G (p.Pro790=)
c.2346A>G (p.Pro782=)
n.2751A>G
7g.143351794A>TCA458542337CLCN1c.2796A>T (p.Pro932=)
n.2736A>T
c.2820A>T (p.Pro940=)
c.1542A>T (p.Pro514=)
c.2370A>T (p.Pro790=)
c.2346A>T (p.Pro782=)
n.2751A>T
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

Number of alleles fetched