Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
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

Number of alleles fetched