Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.143351637_143351639delCA2580077631CLCN1c.2639_2641del (p.Leu880del)
c.2463_2465del
n.2579_2581del
c.2663_2665del (p.Leu888del)
c.1385_1387del (p.Leu462del)
c.2213_2215del (p.Leu738del)
c.2189_2191del (p.Leu730del)
n.2594_2596del
 ClinVar
7g.143351639C>ACA369653519CLCN1c.2641C>A (p.Arg881Ser)
c.2465C>A
n.2581C>A
c.2665C>A (p.Arg889Ser)
c.1387C>A (p.Arg463Ser)
c.2215C>A (p.Arg739Ser)
c.2191C>A (p.Arg731Ser)
n.2596C>A
7g.143351639C=CA1748898258CLCN1c.2641C= (p.Arg881=)
c.2465C=
n.2581C=
c.2665C= (p.Arg889=)
c.1387C= (p.Arg463=)
c.2215C= (p.Arg739=)
c.2191C= (p.Arg731=)
n.2596C=
7g.143351639C>GCA369653520CLCN1c.2641C>G (p.Arg881Gly)
c.2465C>G
n.2581C>G
c.2665C>G (p.Arg889Gly)
c.1387C>G (p.Arg463Gly)
c.2215C>G (p.Arg739Gly)
c.2191C>G (p.Arg731Gly)
n.2596C>G
7g.143351639C>TCA369653521CLCN1c.2641C>T (p.Arg881Cys)
c.2465C>T
n.2581C>T
c.2665C>T (p.Arg889Cys)
c.1387C>T (p.Arg463Cys)
c.2215C>T (p.Arg739Cys)
c.2191C>T (p.Arg731Cys)
n.2596C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.143351640G>ACA4537758CLCN1c.2642G>A (p.Arg881His)
c.2466G>A
n.2582G>A
c.2666G>A (p.Arg889His)
c.1388G>A (p.Arg463His)
c.2216G>A (p.Arg739His)
c.2192G>A (p.Arg731His)
n.2597G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.143351640G>CCA369653522CLCN1c.2642G>C (p.Arg881Pro)
c.2466G>C
n.2582G>C
c.2666G>C (p.Arg889Pro)
c.1388G>C (p.Arg463Pro)
c.2216G>C (p.Arg739Pro)
c.2192G>C (p.Arg731Pro)
n.2597G>C
7g.143351640G=CA1748898259CLCN1c.2642G= (p.Arg881=)
c.2466G=
n.2582G=
c.2666G= (p.Arg889=)
c.1388G= (p.Arg463=)
c.2216G= (p.Arg739=)
c.2192G= (p.Arg731=)
n.2597G=
7g.143351640G>TCA369653523CLCN1c.2642G>T (p.Arg881Leu)
c.2466G>T
n.2582G>T
c.2666G>T (p.Arg889Leu)
c.1388G>T (p.Arg463Leu)
c.2216G>T (p.Arg739Leu)
c.2192G>T (p.Arg731Leu)
n.2597G>T
 gnomAD v4 COSMIC
7g.143351641C>ACA458542323CLCN1c.2643C>A (p.Arg881=)
c.2467C>A
n.2583C>A
c.2667C>A (p.Arg889=)
c.1389C>A (p.Arg463=)
c.2217C>A (p.Arg739=)
c.2193C>A (p.Arg731=)
n.2598C>A
7g.143351641C>GCA458542322CLCN1c.2643C>G (p.Arg881=)
c.2467C>G
n.2583C>G
c.2667C>G (p.Arg889=)
c.1389C>G (p.Arg463=)
c.2217C>G (p.Arg739=)
c.2193C>G (p.Arg731=)
n.2598C>G
7g.143351641C>TCA458542321CLCN1c.2643C>T (p.Arg881=)
c.2467C>T
n.2583C>T
c.2667C>T (p.Arg889=)
c.1389C>T (p.Arg463=)
c.2217C>T (p.Arg739=)
c.2193C>T (p.Arg731=)
n.2598C>T
7g.143351642C>ACA369653524CLCN1c.2644C>A (p.Pro882Thr)
c.2468C>A
n.2584C>A
c.2668C>A (p.Pro890Thr)
c.1390C>A (p.Pro464Thr)
c.2218C>A (p.Pro740Thr)
c.2194C>A (p.Pro732Thr)
n.2599C>A
7g.143351642C=CA1748898260CLCN1c.2644C= (p.Pro882=)
c.2468C=
n.2584C=
c.2668C= (p.Pro890=)
c.1390C= (p.Pro464=)
c.2218C= (p.Pro740=)
c.2194C= (p.Pro732=)
n.2599C=
7g.143351642C>GCA369653525CLCN1c.2644C>G (p.Pro882Ala)
c.2468C>G
n.2584C>G
c.2668C>G (p.Pro890Ala)
c.1390C>G (p.Pro464Ala)
c.2218C>G (p.Pro740Ala)
c.2194C>G (p.Pro732Ala)
n.2599C>G
7g.143351642C>TCA369653526CLCN1c.2644C>T (p.Pro882Ser)
c.2468C>T
n.2584C>T
c.2668C>T (p.Pro890Ser)
c.1390C>T (p.Pro464Ser)
c.2218C>T (p.Pro740Ser)
c.2194C>T (p.Pro732Ser)
n.2599C>T
 dbSNP
7g.143351643C>ACA369653527CLCN1c.2645C>A (p.Pro882His)
c.2469C>A
n.2585C>A
c.2669C>A (p.Pro890His)
c.1391C>A (p.Pro464His)
c.2219C>A (p.Pro740His)
c.2195C>A (p.Pro732His)
n.2600C>A
7g.143351643C=CA1748898261CLCN1c.2645C= (p.Pro882=)
c.2469C=
n.2585C=
c.2669C= (p.Pro890=)
c.1391C= (p.Pro464=)
c.2219C= (p.Pro740=)
c.2195C= (p.Pro732=)
n.2600C=
7g.143351643C>GCA369653528CLCN1c.2645C>G (p.Pro882Arg)
c.2469C>G
n.2585C>G
c.2669C>G (p.Pro890Arg)
c.1391C>G (p.Pro464Arg)
c.2219C>G (p.Pro740Arg)
c.2195C>G (p.Pro732Arg)
n.2600C>G
7g.143351643C>TCA4537759CLCN1c.2645C>T (p.Pro882Leu)
c.2469C>T
n.2585C>T
c.2669C>T (p.Pro890Leu)
c.1391C>T (p.Pro464Leu)
c.2219C>T (p.Pro740Leu)
c.2195C>T (p.Pro732Leu)
n.2600C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351644T>ACA458542324CLCN1c.2646T>A (p.Pro882=)
c.2470T>A
n.2586T>A
c.2670T>A (p.Pro890=)
c.1392T>A (p.Pro464=)
c.2220T>A (p.Pro740=)
c.2196T>A (p.Pro732=)
n.2601T>A
7g.143351644T>CCA458542325CLCN1c.2646T>C (p.Pro882=)
c.2470T>C
n.2586T>C
c.2670T>C (p.Pro890=)
c.1392T>C (p.Pro464=)
c.2220T>C (p.Pro740=)
c.2196T>C (p.Pro732=)
n.2601T>C
7g.143351644T>GCA458542326CLCN1c.2646T>G (p.Pro882=)
c.2470T>G
n.2586T>G
c.2670T>G (p.Pro890=)
c.1392T>G (p.Pro464=)
c.2220T>G (p.Pro740=)
c.2196T>G (p.Pro732=)
n.2601T>G
7g.143351645C>ACA4537760CLCN1c.2647C>A (p.Pro883Thr)
c.2471C>A
n.2587C>A
c.2671C>A (p.Pro891Thr)
c.1393C>A (p.Pro465Thr)
c.2221C>A (p.Pro741Thr)
c.2197C>A (p.Pro733Thr)
n.2602C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351645C=CA1748898262CLCN1c.2647C= (p.Pro883=)
c.2471C=
n.2587C=
c.2671C= (p.Pro891=)
c.1393C= (p.Pro465=)
c.2221C= (p.Pro741=)
c.2197C= (p.Pro733=)
n.2602C=
7g.143351645C>GCA369653529CLCN1c.2647C>G (p.Pro883Ala)
c.2471C>G
n.2587C>G
c.2671C>G (p.Pro891Ala)
c.1393C>G (p.Pro465Ala)
c.2221C>G (p.Pro741Ala)
c.2197C>G (p.Pro733Ala)
n.2602C>G
7g.143351645C>TCA369653530CLCN1c.2647C>T (p.Pro883Ser)
c.2471C>T
n.2587C>T
c.2671C>T (p.Pro891Ser)
c.1393C>T (p.Pro465Ser)
c.2221C>T (p.Pro741Ser)
c.2197C>T (p.Pro733Ser)
n.2602C>T
7g.143351648dupCA2685382642CLCN1c.2650dup (p.Leu884ProfsTer28)
c.2474dup
n.2590dup
c.2674dup (p.Leu892ProfsTer28)
c.1396dup (p.Leu466ProfsTer28)
c.2224dup (p.Leu742ProfsTer28)
c.2200dup (p.Leu734ProfsTer28)
n.2605dup
 gnomAD v4
7g.143351646C>ACA369653531CLCN1c.2648C>A (p.Pro883His)
c.2472C>A
n.2588C>A
c.2672C>A (p.Pro891His)
c.1394C>A (p.Pro465His)
c.2222C>A (p.Pro741His)
c.2198C>A (p.Pro733His)
n.2603C>A
7g.143351646C>GCA369653532CLCN1c.2648C>G (p.Pro883Arg)
c.2472C>G
n.2588C>G
c.2672C>G (p.Pro891Arg)
c.1394C>G (p.Pro465Arg)
c.2222C>G (p.Pro741Arg)
c.2198C>G (p.Pro733Arg)
n.2603C>G
7g.143351646C>TCA369653533CLCN1c.2648C>T (p.Pro883Leu)
c.2472C>T
n.2588C>T
c.2672C>T (p.Pro891Leu)
c.1394C>T (p.Pro465Leu)
c.2222C>T (p.Pro741Leu)
c.2198C>T (p.Pro733Leu)
n.2603C>T
 COSMIC
7g.143351647C>ACA458542328CLCN1c.2649C>A (p.Pro883=)
c.2473C>A
n.2589C>A
c.2673C>A (p.Pro891=)
c.1395C>A (p.Pro465=)
c.2223C>A (p.Pro741=)
c.2199C>A (p.Pro733=)
n.2604C>A
7g.143351647C=CA1748898263CLCN1c.2649C= (p.Pro883=)
c.2473C=
n.2589C=
c.2673C= (p.Pro891=)
c.1395C= (p.Pro465=)
c.2223C= (p.Pro741=)
c.2199C= (p.Pro733=)
n.2604C=
7g.143351647C>GCA458542327CLCN1c.2649C>G (p.Pro883=)
c.2473C>G
n.2589C>G
c.2673C>G (p.Pro891=)
c.1395C>G (p.Pro465=)
c.2223C>G (p.Pro741=)
c.2199C>G (p.Pro733=)
n.2604C>G
7g.143351647C>TCA4537761CLCN1c.2649C>T (p.Pro883=)
c.2473C>T
n.2589C>T
c.2673C>T (p.Pro891=)
c.1395C>T (p.Pro465=)
c.2223C>T (p.Pro741=)
c.2199C>T (p.Pro733=)
n.2604C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351647_143351648delinsTTCA645545736CLCN1c.2649_2650delinsTT (p.Leu884Phe)
c.2473_2474delinsTT
n.2589_2590delinsTT
c.2673_2674delinsTT (p.Leu892Phe)
c.1395_1396delinsTT (p.Leu466Phe)
c.2223_2224delinsTT (p.Leu742Phe)
c.2199_2200delinsTT (p.Leu734Phe)
n.2604_2605delinsTT
 COSMIC
7g.143351648C>ACA369653534CLCN1c.2650C>A (p.Leu884Ile)
c.2474C>A
n.2590C>A
c.2674C>A (p.Leu892Ile)
c.1396C>A (p.Leu466Ile)
c.2224C>A (p.Leu742Ile)
c.2200C>A (p.Leu734Ile)
n.2605C>A
7g.143351648C=CA1748898264CLCN1c.2650C= (p.Leu884=)
c.2474C=
n.2590C=
c.2674C= (p.Leu892=)
c.1396C= (p.Leu466=)
c.2224C= (p.Leu742=)
c.2200C= (p.Leu734=)
n.2605C=
7g.143351648C>GCA369653535CLCN1c.2650C>G (p.Leu884Val)
c.2474C>G
n.2590C>G
c.2674C>G (p.Leu892Val)
c.1396C>G (p.Leu466Val)
c.2224C>G (p.Leu742Val)
c.2200C>G (p.Leu734Val)
n.2605C>G
7g.143351648C>TCA369653536CLCN1c.2650C>T (p.Leu884Phe)
c.2474C>T
n.2590C>T
c.2674C>T (p.Leu892Phe)
c.1396C>T (p.Leu466Phe)
c.2224C>T (p.Leu742Phe)
c.2200C>T (p.Leu734Phe)
n.2605C>T
 dbSNP gnomAD v2 gnomAD v4
7g.143351649T>ACA369653537CLCN1c.2651T>A (p.Leu884His)
c.2475T>A
n.2591T>A
c.2675T>A (p.Leu892His)
c.1397T>A (p.Leu466His)
c.2225T>A (p.Leu742His)
c.2201T>A (p.Leu734His)
n.2606T>A
7g.143351649T>CCA369653538CLCN1c.2651T>C (p.Leu884Pro)
c.2475T>C
n.2591T>C
c.2675T>C (p.Leu892Pro)
c.1397T>C (p.Leu466Pro)
c.2225T>C (p.Leu742Pro)
c.2201T>C (p.Leu734Pro)
n.2606T>C
7g.143351649T>GCA369653539CLCN1c.2651T>G (p.Leu884Arg)
c.2475T>G
n.2591T>G
c.2675T>G (p.Leu892Arg)
c.1397T>G (p.Leu466Arg)
c.2225T>G (p.Leu742Arg)
c.2201T>G (p.Leu734Arg)
n.2606T>G
7g.143351650T>ACA458542329CLCN1c.2652T>A (p.Leu884=)
c.2476T>A
n.2592T>A
c.2676T>A (p.Leu892=)
c.1398T>A (p.Leu466=)
c.2226T>A (p.Leu742=)
c.2202T>A (p.Leu734=)
n.2607T>A
7g.143351650T>CCA458542330CLCN1c.2652T>C (p.Leu884=)
c.2476T>C
n.2592T>C
c.2676T>C (p.Leu892=)
c.1398T>C (p.Leu466=)
c.2226T>C (p.Leu742=)
c.2202T>C (p.Leu734=)
n.2607T>C
7g.143351650T>GCA458542331CLCN1c.2652T>G (p.Leu884=)
c.2476T>G
n.2592T>G
c.2676T>G (p.Leu892=)
c.1398T>G (p.Leu466=)
c.2226T>G (p.Leu742=)
c.2202T>G (p.Leu734=)
n.2607T>G
 ClinVar dbSNP gnomAD v4
7g.143351651G>ACA369653542CLCN1c.2653G>A (p.Ala885Thr)
c.2477G>A
n.2593G>A
c.2677G>A (p.Ala893Thr)
c.1399G>A (p.Ala467Thr)
c.2227G>A (p.Ala743Thr)
c.2203G>A (p.Ala735Thr)
n.2608G>A
7g.143351651G>CCA369653541CLCN1c.2653G>C (p.Ala885Pro)
c.2477G>C
n.2593G>C
c.2677G>C (p.Ala893Pro)
c.1399G>C (p.Ala467Pro)
c.2227G>C (p.Ala743Pro)
c.2203G>C (p.Ala735Pro)
n.2608G>C
7g.143351651G=CA1748898265CLCN1c.2653G= (p.Ala885=)
c.2477G=
n.2593G=
c.2677G= (p.Ala893=)
c.1399G= (p.Ala467=)
c.2227G= (p.Ala743=)
c.2203G= (p.Ala735=)
n.2608G=
7g.143351651G>TCA369653540CLCN1c.2653G>T (p.Ala885Ser)
c.2477G>T
n.2593G>T
c.2677G>T (p.Ala893Ser)
c.1399G>T (p.Ala467Ser)
c.2227G>T (p.Ala743Ser)
c.2203G>T (p.Ala735Ser)
n.2608G>T
 ClinVar dbSNP
7g.143351652C>ACA369653543CLCN1c.2654C>A (p.Ala885Asp)
c.2478C>A
n.2594C>A
c.2678C>A (p.Ala893Asp)
c.1400C>A (p.Ala467Asp)
c.2228C>A (p.Ala743Asp)
c.2204C>A (p.Ala735Asp)
n.2609C>A
7g.143351652C>GCA369653544CLCN1c.2654C>G (p.Ala885Gly)
c.2478C>G
n.2594C>G
c.2678C>G (p.Ala893Gly)
c.1400C>G (p.Ala467Gly)
c.2228C>G (p.Ala743Gly)
c.2204C>G (p.Ala735Gly)
n.2609C>G
7g.143351652C>TCA369653545CLCN1c.2654C>T (p.Ala885Val)
c.2478C>T
n.2594C>T
c.2678C>T (p.Ala893Val)
c.1400C>T (p.Ala467Val)
c.2228C>T (p.Ala743Val)
c.2204C>T (p.Ala735Val)
n.2609C>T
7g.143351653dupCA2740094942CLCN1c.2655dup (p.Ser886GlnfsTer26)
c.2479dup
n.2595dup
c.2679dup (p.Ser894GlnfsTer26)
c.1401dup (p.Ser468GlnfsTer26)
c.2229dup (p.Ser744GlnfsTer26)
c.2205dup (p.Ser736GlnfsTer26)
n.2610dup
 ClinVar
7g.143351653C>ACA458542332CLCN1c.2655C>A (p.Ala885=)
c.2479C>A
n.2595C>A
c.2679C>A (p.Ala893=)
c.1401C>A (p.Ala467=)
c.2229C>A (p.Ala743=)
c.2205C>A (p.Ala735=)
n.2610C>A
 dbSNP
7g.143351653C=CA1748898266CLCN1c.2655C= (p.Ala885=)
c.2479C=
n.2595C=
c.2679C= (p.Ala893=)
c.1401C= (p.Ala467=)
c.2229C= (p.Ala743=)
c.2205C= (p.Ala735=)
n.2610C=
7g.143351653C>GCA458542333CLCN1c.2655C>G (p.Ala885=)
c.2479C>G
n.2595C>G
c.2679C>G (p.Ala893=)
c.1401C>G (p.Ala467=)
c.2229C>G (p.Ala743=)
c.2205C>G (p.Ala735=)
n.2610C>G
7g.143351653C>TCA458542334CLCN1c.2655C>T (p.Ala885=)
c.2479C>T
n.2595C>T
c.2679C>T (p.Ala893=)
c.1401C>T (p.Ala467=)
c.2229C>T (p.Ala743=)
c.2205C>T (p.Ala735=)
n.2610C>T
7g.143351654A>CCA369653546CLCN1c.2656A>C (p.Ser886Arg)
c.2480A>C
n.2596A>C
c.2680A>C (p.Ser894Arg)
c.1402A>C (p.Ser468Arg)
c.2230A>C (p.Ser744Arg)
c.2206A>C (p.Ser736Arg)
n.2611A>C
7g.143351654A>GCA369653547CLCN1c.2656A>G (p.Ser886Gly)
c.2480A>G
n.2596A>G
c.2680A>G (p.Ser894Gly)
c.1402A>G (p.Ser468Gly)
c.2230A>G (p.Ser744Gly)
c.2206A>G (p.Ser736Gly)
n.2611A>G
 gnomAD v4
7g.143351654A>TCA369653548CLCN1c.2656A>T (p.Ser886Cys)
c.2480A>T
n.2596A>T
c.2680A>T (p.Ser894Cys)
c.1402A>T (p.Ser468Cys)
c.2230A>T (p.Ser744Cys)
c.2206A>T (p.Ser736Cys)
n.2611A>T
7g.143351655G>ACA369653549CLCN1c.2657G>A (p.Ser886Asn)
c.2481G>A
n.2597G>A
c.2681G>A (p.Ser894Asn)
c.1403G>A (p.Ser468Asn)
c.2231G>A (p.Ser744Asn)
c.2207G>A (p.Ser736Asn)
n.2612G>A
7g.143351655G>CCA369653550CLCN1c.2657G>C (p.Ser886Thr)
c.2481G>C
n.2597G>C
c.2681G>C (p.Ser894Thr)
c.1403G>C (p.Ser468Thr)
c.2231G>C (p.Ser744Thr)
c.2207G>C (p.Ser736Thr)
n.2612G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.143351655G=CA1748898267CLCN1c.2657G= (p.Ser886=)
c.2481G=
n.2597G=
c.2681G= (p.Ser894=)
c.1403G= (p.Ser468=)
c.2231G= (p.Ser744=)
c.2207G= (p.Ser736=)
n.2612G=
7g.143351655G>TCA168231421CLCN1c.2657G>T (p.Ser886Ile)
c.2481G>T
n.2597G>T
c.2681G>T (p.Ser894Ile)
c.1403G>T (p.Ser468Ile)
c.2231G>T (p.Ser744Ile)
c.2207G>T (p.Ser736Ile)
n.2612G>T
 dbSNP
7g.143351656C>ACA369653551CLCN1c.2658C>A (p.Ser886Arg)
c.2482C>A
n.2598C>A
c.2682C>A (p.Ser894Arg)
c.1404C>A (p.Ser468Arg)
c.2232C>A (p.Ser744Arg)
c.2208C>A (p.Ser736Arg)
n.2613C>A
7g.143351656C>GCA369653552CLCN1c.2658C>G (p.Ser886Arg)
c.2482C>G
n.2598C>G
c.2682C>G (p.Ser894Arg)
c.1404C>G (p.Ser468Arg)
c.2232C>G (p.Ser744Arg)
c.2208C>G (p.Ser736Arg)
n.2613C>G
7g.143351656C>TCA458542335CLCN1c.2658C>T (p.Ser886=)
c.2482C>T
n.2598C>T
c.2682C>T (p.Ser894=)
c.1404C>T (p.Ser468=)
c.2232C>T (p.Ser744=)
c.2208C>T (p.Ser736=)
n.2613C>T
7g.143351660_143351673delCA2695208586CLCN1c.2662_2675del (p.Arg888AsnfsTer19)
c.2486_2499del
n.2602_2615del
c.2686_2699del (p.Arg896AsnfsTer19)
c.1408_1421del (p.Arg470AsnfsTer19)
c.2236_2249del (p.Arg746AsnfsTer19)
c.2212_2225del (p.Arg738AsnfsTer19)
n.2617_2630del
7g.143351657T>ACA369653553CLCN1c.2659T>A (p.Phe887Ile)
c.2483T>A
n.2599T>A
c.2683T>A (p.Phe895Ile)
c.1405T>A (p.Phe469Ile)
c.2233T>A (p.Phe745Ile)
c.2209T>A (p.Phe737Ile)
n.2614T>A
 dbSNP
7g.143351657T>CCA369653554CLCN1c.2659T>C (p.Phe887Leu)
c.2483T>C
n.2599T>C
c.2683T>C (p.Phe895Leu)
c.1405T>C (p.Phe469Leu)
c.2233T>C (p.Phe745Leu)
c.2209T>C (p.Phe737Leu)
n.2614T>C
 dbSNP gnomAD v2 gnomAD v4
7g.143351657T>GCA369653555CLCN1c.2659T>G (p.Phe887Val)
c.2483T>G
n.2599T>G
c.2683T>G (p.Phe895Val)
c.1405T>G (p.Phe469Val)
c.2233T>G (p.Phe745Val)
c.2209T>G (p.Phe737Val)
n.2614T>G
 gnomAD v4
7g.143351657T=CA1748898268CLCN1c.2659T= (p.Phe887=)
c.2483T=
n.2599T=
c.2683T= (p.Phe895=)
c.1405T= (p.Phe469=)
c.2233T= (p.Phe745=)
c.2209T= (p.Phe737=)
n.2614T=
7g.143351658T>ACA369653558CLCN1c.2660T>A (p.Phe887Tyr)
c.2484T>A
n.2600T>A
c.2684T>A (p.Phe895Tyr)
c.1406T>A (p.Phe469Tyr)
c.2234T>A (p.Phe745Tyr)
c.2210T>A (p.Phe737Tyr)
n.2615T>A
7g.143351658T>CCA369653557CLCN1c.2660T>C (p.Phe887Ser)
c.2484T>C
n.2600T>C
c.2684T>C (p.Phe895Ser)
c.1406T>C (p.Phe469Ser)
c.2234T>C (p.Phe745Ser)
c.2210T>C (p.Phe737Ser)
n.2615T>C
7g.143351658T>GCA369653556CLCN1c.2660T>G (p.Phe887Cys)
c.2484T>G
n.2600T>G
c.2684T>G (p.Phe895Cys)
c.1406T>G (p.Phe469Cys)
c.2234T>G (p.Phe745Cys)
c.2210T>G (p.Phe737Cys)
n.2615T>G
7g.143351659C>ACA369653559CLCN1c.2661C>A (p.Phe887Leu)
c.2485C>A
n.2601C>A
c.2685C>A (p.Phe895Leu)
c.1407C>A (p.Phe469Leu)
c.2235C>A (p.Phe745Leu)
c.2211C>A (p.Phe737Leu)
n.2616C>A
7g.143351659C=CA1748898269CLCN1c.2661C= (p.Phe887=)
c.2485C=
n.2601C=
c.2685C= (p.Phe895=)
c.1407C= (p.Phe469=)
c.2235C= (p.Phe745=)
c.2211C= (p.Phe737=)
n.2616C=
7g.143351659C>GCA369653560CLCN1c.2661C>G (p.Phe887Leu)
c.2485C>G
n.2601C>G
c.2685C>G (p.Phe895Leu)
c.1407C>G (p.Phe469Leu)
c.2235C>G (p.Phe745Leu)
c.2211C>G (p.Phe737Leu)
n.2616C>G
7g.143351659C>TCA4537762CLCN1c.2661C>T (p.Phe887=)
c.2485C>T
n.2601C>T
c.2685C>T (p.Phe895=)
c.1407C>T (p.Phe469=)
c.2235C>T (p.Phe745=)
c.2211C>T (p.Phe737=)
n.2616C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351660C>ACA458542338CLCN1c.2662C>A (p.Arg888=)
c.2486C>A
n.2602C>A
c.2686C>A (p.Arg896=)
c.1408C>A (p.Arg470=)
c.2236C>A (p.Arg746=)
c.2212C>A (p.Arg738=)
n.2617C>A
7g.143351660C=CA1748898270CLCN1c.2662C= (p.Arg888=)
c.2486C=
n.2602C=
c.2686C= (p.Arg896=)
c.1408C= (p.Arg470=)
c.2236C= (p.Arg746=)
c.2212C= (p.Arg738=)
n.2617C=
7g.143351660C>GCA369653561CLCN1c.2662C>G (p.Arg888Gly)
c.2486C>G
n.2602C>G
c.2686C>G (p.Arg896Gly)
c.1408C>G (p.Arg470Gly)
c.2236C>G (p.Arg746Gly)
c.2212C>G (p.Arg738Gly)
n.2617C>G
7g.143351660C>TCA4537763CLCN1c.2662C>T (p.Arg888Trp)
c.2486C>T
n.2602C>T
c.2686C>T (p.Arg896Trp)
c.1408C>T (p.Arg470Trp)
c.2236C>T (p.Arg746Trp)
c.2212C>T (p.Arg738Trp)
n.2617C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351661G>ACA168231457CLCN1c.2663G>A (p.Arg888Gln)
c.2487G>A
n.2603G>A
c.2687G>A (p.Arg896Gln)
c.1409G>A (p.Arg470Gln)
c.2237G>A (p.Arg746Gln)
c.2213G>A (p.Arg738Gln)
n.2618G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.143351661G>CCA369653562CLCN1c.2663G>C (p.Arg888Pro)
c.2487G>C
n.2603G>C
c.2687G>C (p.Arg896Pro)
c.1409G>C (p.Arg470Pro)
c.2237G>C (p.Arg746Pro)
c.2213G>C (p.Arg738Pro)
n.2618G>C
7g.143351661G=CA1748898271CLCN1c.2663G= (p.Arg888=)
c.2487G=
n.2603G=
c.2687G= (p.Arg896=)
c.1409G= (p.Arg470=)
c.2237G= (p.Arg746=)
c.2213G= (p.Arg738=)
n.2618G=
7g.143351661G>TCA369653563CLCN1c.2663G>T (p.Arg888Leu)
c.2487G>T
n.2603G>T
c.2687G>T (p.Arg896Leu)
c.1409G>T (p.Arg470Leu)
c.2237G>T (p.Arg746Leu)
c.2213G>T (p.Arg738Leu)
n.2618G>T
7g.143351662G>ACA458542344CLCN1c.2664G>A (p.Arg888=)
c.2488G>A
n.2604G>A
c.2688G>A (p.Arg896=)
c.1410G>A (p.Arg470=)
c.2238G>A (p.Arg746=)
c.2214G>A (p.Arg738=)
n.2619G>A
7g.143351662G>CCA458542343CLCN1c.2664G>C (p.Arg888=)
c.2488G>C
n.2604G>C
c.2688G>C (p.Arg896=)
c.1410G>C (p.Arg470=)
c.2238G>C (p.Arg746=)
c.2214G>C (p.Arg738=)
n.2619G>C
7g.143351662G>TCA458542342CLCN1c.2664G>T (p.Arg888=)
c.2488G>T
n.2604G>T
c.2688G>T (p.Arg896=)
c.1410G>T (p.Arg470=)
c.2238G>T (p.Arg746=)
c.2214G>T (p.Arg738=)
n.2619G>T
7g.143351663A>CCA369653564CLCN1c.2665A>C (p.Asn889His)
c.2489A>C
n.2605A>C
c.2689A>C (p.Asn897His)
c.1411A>C (p.Asn471His)
c.2239A>C (p.Asn747His)
c.2215A>C (p.Asn739His)
n.2620A>C
7g.143351663A>GCA369653565CLCN1c.2665A>G (p.Asn889Asp)
c.2489A>G
n.2605A>G
c.2689A>G (p.Asn897Asp)
c.1411A>G (p.Asn471Asp)
c.2239A>G (p.Asn747Asp)
c.2215A>G (p.Asn739Asp)
n.2620A>G
7g.143351663A>TCA369653566CLCN1c.2665A>T (p.Asn889Tyr)
c.2489A>T
n.2605A>T
c.2689A>T (p.Asn897Tyr)
c.1411A>T (p.Asn471Tyr)
c.2239A>T (p.Asn747Tyr)
c.2215A>T (p.Asn739Tyr)
n.2620A>T
 gnomAD v4
7g.143351664A=CA1748898272CLCN1c.2666A= (p.Asn889=)
c.2490A=
n.2606A=
c.2690A= (p.Asn897=)
c.1412A= (p.Asn471=)
c.2240A= (p.Asn747=)
c.2216A= (p.Asn739=)
n.2621A=
7g.143351664A>CCA369653567CLCN1c.2666A>C (p.Asn889Thr)
c.2490A>C
n.2606A>C
c.2690A>C (p.Asn897Thr)
c.1412A>C (p.Asn471Thr)
c.2240A>C (p.Asn747Thr)
c.2216A>C (p.Asn739Thr)
n.2621A>C
7g.143351664A>GCA4537764CLCN1c.2666A>G (p.Asn889Ser)
c.2490A>G
n.2606A>G
c.2690A>G (p.Asn897Ser)
c.1412A>G (p.Asn471Ser)
c.2240A>G (p.Asn747Ser)
c.2216A>G (p.Asn739Ser)
n.2621A>G
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.143351664A>TCA369653568CLCN1c.2666A>T (p.Asn889Ile)
c.2490A>T
n.2606A>T
c.2690A>T (p.Asn897Ile)
c.1412A>T (p.Asn471Ile)
c.2240A>T (p.Asn747Ile)
c.2216A>T (p.Asn739Ile)
n.2621A>T
7g.143351665C>ACA369653570CLCN1c.2667C>A (p.Asn889Lys)
c.2491C>A
n.2607C>A
c.2691C>A (p.Asn897Lys)
c.1413C>A (p.Asn471Lys)
c.2241C>A (p.Asn747Lys)
c.2217C>A (p.Asn739Lys)
n.2622C>A
 dbSNP gnomAD v3 gnomAD v4
7g.143351665C=CA1748898273CLCN1c.2667C= (p.Asn889=)
c.2491C=
n.2607C=
c.2691C= (p.Asn897=)
c.1413C= (p.Asn471=)
c.2241C= (p.Asn747=)
c.2217C= (p.Asn739=)
n.2622C=
7g.143351665C>GCA369653569CLCN1c.2667C>G (p.Asn889Lys)
c.2491C>G
n.2607C>G
c.2691C>G (p.Asn897Lys)
c.1413C>G (p.Asn471Lys)
c.2241C>G (p.Asn747Lys)
c.2217C>G (p.Asn739Lys)
n.2622C>G
7g.143351665C>TCA458542348CLCN1c.2667C>T (p.Asn889=)
c.2491C>T
n.2607C>T
c.2691C>T (p.Asn897=)
c.1413C>T (p.Asn471=)
c.2241C>T (p.Asn747=)
c.2217C>T (p.Asn739=)
n.2622C>T
7g.143351666_143351678delCA2579051079CLCN1c.2668_2680del (p.Thr890GlufsTer29)
c.2492_2504del
n.2608_2620del
c.2692_2704del (p.Thr898GlufsTer29)
c.1414_1426del (p.Thr472GlufsTer29)
c.2242_2254del (p.Thr748GlufsTer29)
c.2218_2230del (p.Thr740GlufsTer29)
n.2623_2635del
7g.143351666A>CCA369653571CLCN1c.2668A>C (p.Thr890Pro)
c.2492A>C
n.2608A>C
c.2692A>C (p.Thr898Pro)
c.1414A>C (p.Thr472Pro)
c.2242A>C (p.Thr748Pro)
c.2218A>C (p.Thr740Pro)
n.2623A>C
7g.143351666A>GCA369653572CLCN1c.2668A>G (p.Thr890Ala)
c.2492A>G
n.2608A>G
c.2692A>G (p.Thr898Ala)
c.1414A>G (p.Thr472Ala)
c.2242A>G (p.Thr748Ala)
c.2218A>G (p.Thr740Ala)
n.2623A>G
7g.143351666A>TCA369653573CLCN1c.2668A>T (p.Thr890Ser)
c.2492A>T
n.2608A>T
c.2692A>T (p.Thr898Ser)
c.1414A>T (p.Thr472Ser)
c.2242A>T (p.Thr748Ser)
c.2218A>T (p.Thr740Ser)
n.2623A>T
7g.143351667C>ACA369653574CLCN1c.2669C>A (p.Thr890Lys)
c.2493C>A
n.2609C>A
c.2693C>A (p.Thr898Lys)
c.1415C>A (p.Thr472Lys)
c.2243C>A (p.Thr748Lys)
c.2219C>A (p.Thr740Lys)
n.2624C>A
7g.143351667C=CA1748898274CLCN1c.2669C= (p.Thr890=)
c.2493C=
n.2609C=
c.2693C= (p.Thr898=)
c.1415C= (p.Thr472=)
c.2243C= (p.Thr748=)
c.2219C= (p.Thr740=)
n.2624C=
7g.143351667C>GCA369653575CLCN1c.2669C>G (p.Thr890Arg)
c.2493C>G
n.2609C>G
c.2693C>G (p.Thr898Arg)
c.1415C>G (p.Thr472Arg)
c.2243C>G (p.Thr748Arg)
c.2219C>G (p.Thr740Arg)
n.2624C>G
7g.143351667C>TCA4537765CLCN1c.2669C>T (p.Thr890Met)
c.2493C>T
n.2609C>T
c.2693C>T (p.Thr898Met)
c.1415C>T (p.Thr472Met)
c.2243C>T (p.Thr748Met)
c.2219C>T (p.Thr740Met)
n.2624C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.143351668G>ACA4537766CLCN1c.2670G>A (p.Thr890=)
c.2494G>A
n.2610G>A
c.2694G>A (p.Thr898=)
c.1416G>A (p.Thr472=)
c.2244G>A (p.Thr748=)
c.2220G>A (p.Thr740=)
n.2625G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351668G>CCA458542354CLCN1c.2670G>C (p.Thr890=)
c.2494G>C
n.2610G>C
c.2694G>C (p.Thr898=)
c.1416G>C (p.Thr472=)
c.2244G>C (p.Thr748=)
c.2220G>C (p.Thr740=)
n.2625G>C
7g.143351668G=CA1748898275CLCN1c.2670G= (p.Thr890=)
c.2494G=
n.2610G=
c.2694G= (p.Thr898=)
c.1416G= (p.Thr472=)
c.2244G= (p.Thr748=)
c.2220G= (p.Thr740=)
n.2625G=
7g.143351668G>TCA458542355CLCN1c.2670G>T (p.Thr890=)
c.2494G>T
n.2610G>T
c.2694G>T (p.Thr898=)
c.1416G>T (p.Thr472=)
c.2244G>T (p.Thr748=)
c.2220G>T (p.Thr740=)
n.2625G>T
 dbSNP gnomAD v4
7g.143351669A>CCA369653576CLCN1c.2671A>C (p.Thr891Pro)
c.2495A>C
n.2611A>C
c.2695A>C (p.Thr899Pro)
c.1417A>C (p.Thr473Pro)
c.2245A>C (p.Thr749Pro)
c.2221A>C (p.Thr741Pro)
n.2626A>C
7g.143351669A>GCA369653577CLCN1c.2671A>G (p.Thr891Ala)
c.2495A>G
n.2611A>G
c.2695A>G (p.Thr899Ala)
c.1417A>G (p.Thr473Ala)
c.2245A>G (p.Thr749Ala)
c.2221A>G (p.Thr741Ala)
n.2626A>G
7g.143351669A>TCA369653578CLCN1c.2671A>T (p.Thr891Ser)
c.2495A>T
n.2611A>T
c.2695A>T (p.Thr899Ser)
c.1417A>T (p.Thr473Ser)
c.2245A>T (p.Thr749Ser)
c.2221A>T (p.Thr741Ser)
n.2626A>T
7g.143351670C>ACA369653579CLCN1c.2672C>A (p.Thr891Asn)
c.2496C>A
n.2612C>A
c.2696C>A (p.Thr899Asn)
c.1418C>A (p.Thr473Asn)
c.2246C>A (p.Thr749Asn)
c.2222C>A (p.Thr741Asn)
n.2627C>A
7g.143351670C=CA1748898276CLCN1c.2672C= (p.Thr891=)
c.2496C=
n.2612C=
c.2696C= (p.Thr899=)
c.1418C= (p.Thr473=)
c.2246C= (p.Thr749=)
c.2222C= (p.Thr741=)
n.2627C=
7g.143351670C>GCA369653580CLCN1c.2672C>G (p.Thr891Ser)
c.2496C>G
n.2612C>G
c.2696C>G (p.Thr899Ser)
c.1418C>G (p.Thr473Ser)
c.2246C>G (p.Thr749Ser)
c.2222C>G (p.Thr741Ser)
n.2627C>G
7g.143351670C>TCA369653581CLCN1c.2672C>T (p.Thr891Ile)
c.2496C>T
n.2612C>T
c.2696C>T (p.Thr899Ile)
c.1418C>T (p.Thr473Ile)
c.2246C>T (p.Thr749Ile)
c.2222C>T (p.Thr741Ile)
n.2627C>T
 dbSNP gnomAD v2 gnomAD v4
7g.143351671T>ACA458542360CLCN1c.2673T>A (p.Thr891=)
c.2497T>A
n.2613T>A
c.2697T>A (p.Thr899=)
c.1419T>A (p.Thr473=)
c.2247T>A (p.Thr749=)
c.2223T>A (p.Thr741=)
n.2628T>A
7g.143351671T>CCA458542362CLCN1c.2673T>C (p.Thr891=)
c.2497T>C
n.2613T>C
c.2697T>C (p.Thr899=)
c.1419T>C (p.Thr473=)
c.2247T>C (p.Thr749=)
c.2223T>C (p.Thr741=)
n.2628T>C
7g.143351671T>GCA458542364CLCN1c.2673T>G (p.Thr891=)
c.2497T>G
n.2613T>G
c.2697T>G (p.Thr899=)
c.1419T>G (p.Thr473=)
c.2247T>G (p.Thr749=)
c.2223T>G (p.Thr741=)
n.2628T>G
7g.143351672T>ACA369653582CLCN1c.2674T>A (p.Ser892Thr)
c.2498T>A
n.2614T>A
c.2698T>A (p.Ser900Thr)
c.1420T>A (p.Ser474Thr)
c.2248T>A (p.Ser750Thr)
c.2224T>A (p.Ser742Thr)
n.2629T>A
7g.143351672T>CCA369653584CLCN1c.2674T>C (p.Ser892Pro)
c.2498T>C
n.2614T>C
c.2698T>C (p.Ser900Pro)
c.1420T>C (p.Ser474Pro)
c.2248T>C (p.Ser750Pro)
c.2224T>C (p.Ser742Pro)
n.2629T>C
7g.143351672T>GCA369653583CLCN1c.2674T>G (p.Ser892Ala)
c.2498T>G
n.2614T>G
c.2698T>G (p.Ser900Ala)
c.1420T>G (p.Ser474Ala)
c.2248T>G (p.Ser750Ala)
c.2224T>G (p.Ser742Ala)
n.2629T>G
7g.143351673C>ACA369653585CLCN1c.2675C>A (p.Ser892Ter)
c.2499C>A
n.2615C>A
c.2699C>A (p.Ser900Ter)
c.1421C>A (p.Ser474Ter)
c.2249C>A (p.Ser750Ter)
c.2225C>A (p.Ser742Ter)
n.2630C>A
 ClinVar gnomAD v4
7g.143351673C=CA1748898277CLCN1c.2675C= (p.Ser892=)
c.2499C=
n.2615C=
c.2699C= (p.Ser900=)
c.1421C= (p.Ser474=)
c.2249C= (p.Ser750=)
c.2225C= (p.Ser742=)
n.2630C=
7g.143351673C>GCA369653587CLCN1c.2675C>G (p.Ser892Ter)
c.2499C>G
n.2615C>G
c.2699C>G (p.Ser900Ter)
c.1421C>G (p.Ser474Ter)
c.2249C>G (p.Ser750Ter)
c.2225C>G (p.Ser742Ter)
n.2630C>G
7g.143351673C>TCA369653586CLCN1c.2675C>T (p.Ser892Leu)
c.2499C>T
n.2615C>T
c.2699C>T (p.Ser900Leu)
c.1421C>T (p.Ser474Leu)
c.2249C>T (p.Ser750Leu)
c.2225C>T (p.Ser742Leu)
n.2630C>T
 dbSNP gnomAD v2 gnomAD v4
7g.143351674A>CCA458542371CLCN1c.2676A>C (p.Ser892=)
c.2500A>C
n.2616A>C
c.2700A>C (p.Ser900=)
c.1422A>C (p.Ser474=)
c.2250A>C (p.Ser750=)
c.2226A>C (p.Ser742=)
n.2631A>C
7g.143351674A>GCA458542373CLCN1c.2676A>G (p.Ser892=)
c.2500A>G
n.2616A>G
c.2700A>G (p.Ser900=)
c.1422A>G (p.Ser474=)
c.2250A>G (p.Ser750=)
c.2226A>G (p.Ser742=)
n.2631A>G
7g.143351674A>TCA458542374CLCN1c.2676A>T (p.Ser892=)
c.2500A>T
n.2616A>T
c.2700A>T (p.Ser900=)
c.1422A>T (p.Ser474=)
c.2250A>T (p.Ser750=)
c.2226A>T (p.Ser742=)
n.2631A>T
7g.143351675A=CA1748898278CLCN1c.2677A= (p.Thr893=)
c.2501A=
n.2617A=
c.2701A= (p.Thr901=)
c.1423A= (p.Thr475=)
c.2251A= (p.Thr751=)
c.2227A= (p.Thr743=)
n.2632A=
7g.143351675A>CCA369653588CLCN1c.2677A>C (p.Thr893Pro)
c.2501A>C
n.2617A>C
c.2701A>C (p.Thr901Pro)
c.1423A>C (p.Thr475Pro)
c.2251A>C (p.Thr751Pro)
c.2227A>C (p.Thr743Pro)
n.2632A>C
 dbSNP gnomAD v3 gnomAD v4
7g.143351675A>GCA369653589CLCN1c.2677A>G (p.Thr893Ala)
c.2501A>G
n.2617A>G
c.2701A>G (p.Thr901Ala)
c.1423A>G (p.Thr475Ala)
c.2251A>G (p.Thr751Ala)
c.2227A>G (p.Thr743Ala)
n.2632A>G
 gnomAD v4
7g.143351675A>TCA369653590CLCN1c.2677A>T (p.Thr893Ser)
c.2501A>T
n.2617A>T
c.2701A>T (p.Thr901Ser)
c.1423A>T (p.Thr475Ser)
c.2251A>T (p.Thr751Ser)
c.2227A>T (p.Thr743Ser)
n.2632A>T
7g.143351676C>ACA369653591CLCN1c.2678C>A (p.Thr893Asn)
c.2502C>A
n.2618C>A
c.2702C>A (p.Thr901Asn)
c.1424C>A (p.Thr475Asn)
c.2252C>A (p.Thr751Asn)
c.2228C>A (p.Thr743Asn)
n.2633C>A
7g.143351676C>GCA369653592CLCN1c.2678C>G (p.Thr893Ser)
c.2502C>G
n.2618C>G
c.2702C>G (p.Thr901Ser)
c.1424C>G (p.Thr475Ser)
c.2252C>G (p.Thr751Ser)
c.2228C>G (p.Thr743Ser)
n.2633C>G
7g.143351676C>TCA369653593CLCN1c.2678C>T (p.Thr893Ile)
c.2502C>T
n.2618C>T
c.2702C>T (p.Thr901Ile)
c.1424C>T (p.Thr475Ile)
c.2252C>T (p.Thr751Ile)
c.2228C>T (p.Thr743Ile)
n.2633C>T
 gnomAD v4
7g.143351677T>ACA458542382CLCN1c.2679T>A (p.Thr893=)
c.2503T>A
n.2619T>A
c.2703T>A (p.Thr901=)
c.1425T>A (p.Thr475=)
c.2253T>A (p.Thr751=)
c.2229T>A (p.Thr743=)
n.2634T>A
7g.143351677T>CCA458542383CLCN1c.2679T>C (p.Thr893=)
c.2503T>C
n.2619T>C
c.2703T>C (p.Thr901=)
c.1425T>C (p.Thr475=)
c.2253T>C (p.Thr751=)
c.2229T>C (p.Thr743=)
n.2634T>C
7g.143351677T>GCA458542384CLCN1c.2679T>G (p.Thr893=)
c.2503T>G
n.2619T>G
c.2703T>G (p.Thr901=)
c.1425T>G (p.Thr475=)
c.2253T>G (p.Thr751=)
c.2229T>G (p.Thr743=)
n.2634T>G
7g.143351678C>ACA168231465CLCN1c.2680C>A (p.Arg894=)
c.2504C>A
n.2620C>A
c.2704C>A (p.Arg902=)
c.1426C>A (p.Arg476=)
c.2254C>A (p.Arg752=)
c.2230C>A (p.Arg744=)
n.2635C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351678C=CA1748898279CLCN1c.2680C= (p.Arg894=)
c.2504C=
n.2620C=
c.2704C= (p.Arg902=)
c.1426C= (p.Arg476=)
c.2254C= (p.Arg752=)
c.2230C= (p.Arg744=)
n.2635C=
7g.143351678C>GCA369653594CLCN1c.2680C>G (p.Arg894Gly)
c.2504C>G
n.2620C>G
c.2704C>G (p.Arg902Gly)
c.1426C>G (p.Arg476Gly)
c.2254C>G (p.Arg752Gly)
c.2230C>G (p.Arg744Gly)
n.2635C>G
7g.143351678C>TCA258028CLCN1c.2680C>T (p.Arg894Ter)
c.2504C>T
n.2620C>T
c.2704C>T (p.Arg902Ter)
c.1426C>T (p.Arg476Ter)
c.2254C>T (p.Arg752Ter)
c.2230C>T (p.Arg744Ter)
n.2635C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351679G>ACA4537767CLCN1c.2681G>A (p.Arg894Gln)
c.2505G>A
n.2621G>A
c.2705G>A (p.Arg902Gln)
c.1427G>A (p.Arg476Gln)
c.2255G>A (p.Arg752Gln)
c.2231G>A (p.Arg744Gln)
n.2636G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351679G>CCA369653595CLCN1c.2681G>C (p.Arg894Pro)
c.2505G>C
n.2621G>C
c.2705G>C (p.Arg902Pro)
c.1427G>C (p.Arg476Pro)
c.2255G>C (p.Arg752Pro)
c.2231G>C (p.Arg744Pro)
n.2636G>C
 gnomAD v4
7g.143351679G=CA1748898280CLCN1c.2681G= (p.Arg894=)
c.2505G=
n.2621G=
c.2705G= (p.Arg902=)
c.1427G= (p.Arg476=)
c.2255G= (p.Arg752=)
c.2231G= (p.Arg744=)
n.2636G=
7g.143351679G>TCA369653596CLCN1c.2681G>T (p.Arg894Leu)
c.2505G>T
n.2621G>T
c.2705G>T (p.Arg902Leu)
c.1427G>T (p.Arg476Leu)
c.2255G>T (p.Arg752Leu)
c.2231G>T (p.Arg744Leu)
n.2636G>T
7g.143351681_143351684delCA2685382740CLCN1c.2683_2686del (p.Lys895ValfsTer27)
c.2507_2510del
n.2623_2626del
c.2707_2710del (p.Lys903ValfsTer27)
c.1429_1432del (p.Lys477ValfsTer27)
c.2257_2260del (p.Lys753ValfsTer27)
c.2233_2236del (p.Lys745ValfsTer27)
n.2638_2641del
 ClinVar gnomAD v4
7g.143351680A>CCA458542391CLCN1c.2682A>C (p.Arg894=)
c.2506A>C
n.2622A>C
c.2706A>C (p.Arg902=)
c.1428A>C (p.Arg476=)
c.2256A>C (p.Arg752=)
c.2232A>C (p.Arg744=)
n.2637A>C
7g.143351680A>GCA458542392CLCN1c.2682A>G (p.Arg894=)
c.2506A>G
n.2622A>G
c.2706A>G (p.Arg902=)
c.1428A>G (p.Arg476=)
c.2256A>G (p.Arg752=)
c.2232A>G (p.Arg744=)
n.2637A>G
7g.143351680A>TCA458542394CLCN1c.2682A>T (p.Arg894=)
c.2506A>T
n.2622A>T
c.2706A>T (p.Arg902=)
c.1428A>T (p.Arg476=)
c.2256A>T (p.Arg752=)
c.2232A>T (p.Arg744=)
n.2637A>T
7g.143351682dupCA168231492CLCN1c.2684dup (p.Ser896GlufsTer16)
c.2508dup
n.2624dup
c.2708dup (p.Ser904GlufsTer16)
c.1430dup (p.Ser478GlufsTer16)
c.2258dup (p.Ser754GlufsTer16)
c.2234dup (p.Ser746GlufsTer16)
n.2639dup
 dbSNP
7g.143351681A>CCA369653599CLCN1c.2683A>C (p.Lys895Gln)
c.2507A>C
n.2623A>C
c.2707A>C (p.Lys903Gln)
c.1429A>C (p.Lys477Gln)
c.2257A>C (p.Lys753Gln)
c.2233A>C (p.Lys745Gln)
n.2638A>C
7g.143351681A>GCA369653597CLCN1c.2683A>G (p.Lys895Glu)
c.2507A>G
n.2623A>G
c.2707A>G (p.Lys903Glu)
c.1429A>G (p.Lys477Glu)
c.2257A>G (p.Lys753Glu)
c.2233A>G (p.Lys745Glu)
n.2638A>G
7g.143351681A>TCA369653598CLCN1c.2683A>T (p.Lys895Ter)
c.2507A>T
n.2623A>T
c.2707A>T (p.Lys903Ter)
c.1429A>T (p.Lys477Ter)
c.2257A>T (p.Lys753Ter)
c.2233A>T (p.Lys745Ter)
n.2638A>T
7g.143351682A=CA1748898281CLCN1c.2684A= (p.Lys895=)
c.2508A=
n.2624A=
c.2708A= (p.Lys903=)
c.1430A= (p.Lys477=)
c.2258A= (p.Lys753=)
c.2234A= (p.Lys745=)
n.2639A=
7g.143351682A>CCA369653600CLCN1c.2684A>C (p.Lys895Thr)
c.2508A>C
n.2624A>C
c.2708A>C (p.Lys903Thr)
c.1430A>C (p.Lys477Thr)
c.2258A>C (p.Lys753Thr)
c.2234A>C (p.Lys745Thr)
n.2639A>C
7g.143351682A>GCA369653601CLCN1c.2684A>G (p.Lys895Arg)
c.2508A>G
n.2624A>G
c.2708A>G (p.Lys903Arg)
c.1430A>G (p.Lys477Arg)
c.2258A>G (p.Lys753Arg)
c.2234A>G (p.Lys745Arg)
n.2639A>G
 dbSNP gnomAD v4
7g.143351682A>TCA369653602CLCN1c.2684A>T (p.Lys895Met)
c.2508A>T
n.2624A>T
c.2708A>T (p.Lys903Met)
c.1430A>T (p.Lys477Met)
c.2258A>T (p.Lys753Met)
c.2234A>T (p.Lys745Met)
n.2639A>T
 gnomAD v4
7g.143351683G>ACA458542403CLCN1c.2685G>A (p.Lys895=)
c.2509G>A
n.2625G>A
c.2709G>A (p.Lys903=)
c.1431G>A (p.Lys477=)
c.2259G>A (p.Lys753=)
c.2235G>A (p.Lys745=)
n.2640G>A
7g.143351683G>CCA369653603CLCN1c.2685G>C (p.Lys895Asn)
c.2509G>C
n.2625G>C
c.2709G>C (p.Lys903Asn)
c.1431G>C (p.Lys477Asn)
c.2259G>C (p.Lys753Asn)
c.2235G>C (p.Lys745Asn)
n.2640G>C
7g.143351683G>TCA369653604CLCN1c.2685G>T (p.Lys895Asn)
c.2509G>T
n.2625G>T
c.2709G>T (p.Lys903Asn)
c.1431G>T (p.Lys477Asn)
c.2259G>T (p.Lys753Asn)
c.2235G>T (p.Lys745Asn)
n.2640G>T
7g.143351684A>CCA369653605CLCN1c.2686A>C (p.Ser896Arg)
c.2510A>C
n.2626A>C
c.2710A>C (p.Ser904Arg)
c.1432A>C (p.Ser478Arg)
c.2260A>C (p.Ser754Arg)
c.2236A>C (p.Ser746Arg)
n.2641A>C
7g.143351684A>GCA369653606CLCN1c.2686A>G (p.Ser896Gly)
c.2510A>G
n.2626A>G
c.2710A>G (p.Ser904Gly)
c.1432A>G (p.Ser478Gly)
c.2260A>G (p.Ser754Gly)
c.2236A>G (p.Ser746Gly)
n.2641A>G
 gnomAD v4
7g.143351684A>TCA369653607CLCN1c.2686A>T (p.Ser896Cys)
c.2510A>T
n.2626A>T
c.2710A>T (p.Ser904Cys)
c.1432A>T (p.Ser478Cys)
c.2260A>T (p.Ser754Cys)
c.2236A>T (p.Ser746Cys)
n.2641A>T
7g.143351685_143351687delCA2579051080CLCN1c.2687_2689del (p.Ser896del)
c.2511_2513del
n.2627_2629del
c.2711_2713del (p.Ser904del)
c.1433_1435del (p.Ser478del)
c.2261_2263del (p.Ser754del)
c.2237_2239del (p.Ser746del)
n.2642_2644del
7g.143351685G>ACA369653608CLCN1c.2687G>A (p.Ser896Asn)
c.2511G>A
n.2627G>A
c.2711G>A (p.Ser904Asn)
c.1433G>A (p.Ser478Asn)
c.2261G>A (p.Ser754Asn)
c.2237G>A (p.Ser746Asn)
n.2642G>A
7g.143351685G>CCA369653609CLCN1c.2687G>C (p.Ser896Thr)
c.2511G>C
n.2627G>C
c.2711G>C (p.Ser904Thr)
c.1433G>C (p.Ser478Thr)
c.2261G>C (p.Ser754Thr)
c.2237G>C (p.Ser746Thr)
n.2642G>C
7g.143351685G>TCA369653610CLCN1c.2687G>T (p.Ser896Ile)
c.2511G>T
n.2627G>T
c.2711G>T (p.Ser904Ile)
c.1433G>T (p.Ser478Ile)
c.2261G>T (p.Ser754Ile)
c.2237G>T (p.Ser746Ile)
n.2642G>T
7g.143351686T>ACA369653612CLCN1c.2688T>A (p.Ser896Arg)
c.2512T>A
n.2628T>A
c.2712T>A (p.Ser904Arg)
c.1434T>A (p.Ser478Arg)
c.2262T>A (p.Ser754Arg)
c.2238T>A (p.Ser746Arg)
n.2643T>A
7g.143351686T>CCA458542409CLCN1c.2688T>C (p.Ser896=)
c.2512T>C
n.2628T>C
c.2712T>C (p.Ser904=)
c.1434T>C (p.Ser478=)
c.2262T>C (p.Ser754=)
c.2238T>C (p.Ser746=)
n.2643T>C
7g.143351686T>GCA369653611CLCN1c.2688T>G (p.Ser896Arg)
c.2512T>G
n.2628T>G
c.2712T>G (p.Ser904Arg)
c.1434T>G (p.Ser478Arg)
c.2262T>G (p.Ser754Arg)
c.2238T>G (p.Ser746Arg)
n.2643T>G
7g.143351687A>CCA369653613CLCN1c.2689A>C (p.Thr897Pro)
c.2513A>C
n.2629A>C
c.2713A>C (p.Thr905Pro)
c.1435A>C (p.Thr479Pro)
c.2263A>C (p.Thr755Pro)
c.2239A>C (p.Thr747Pro)
n.2644A>C
7g.143351687A>GCA369653614CLCN1c.2689A>G (p.Thr897Ala)
c.2513A>G
n.2629A>G
c.2713A>G (p.Thr905Ala)
c.1435A>G (p.Thr479Ala)
c.2263A>G (p.Thr755Ala)
c.2239A>G (p.Thr747Ala)
n.2644A>G
7g.143351687A>TCA369653615CLCN1c.2689A>T (p.Thr897Ser)
c.2513A>T
n.2629A>T
c.2713A>T (p.Thr905Ser)
c.1435A>T (p.Thr479Ser)
c.2263A>T (p.Thr755Ser)
c.2239A>T (p.Thr747Ser)
n.2644A>T
7g.143351688C>ACA369653616CLCN1c.2690C>A (p.Thr897Asn)
c.2514C>A
n.2630C>A
c.2714C>A (p.Thr905Asn)
c.1436C>A (p.Thr479Asn)
c.2264C>A (p.Thr755Asn)
c.2240C>A (p.Thr747Asn)
n.2645C>A
7g.143351688C>GCA369653617CLCN1c.2690C>G (p.Thr897Ser)
c.2514C>G
n.2630C>G
c.2714C>G (p.Thr905Ser)
c.1436C>G (p.Thr479Ser)
c.2264C>G (p.Thr755Ser)
c.2240C>G (p.Thr747Ser)
n.2645C>G
7g.143351688C>TCA369653618CLCN1c.2690C>T (p.Thr897Ile)
c.2514C>T
n.2630C>T
c.2714C>T (p.Thr905Ile)
c.1436C>T (p.Thr479Ile)
c.2264C>T (p.Thr755Ile)
c.2240C>T (p.Thr747Ile)
n.2645C>T
7g.143351689C>ACA458542417CLCN1c.2691C>A (p.Thr897=)
c.2515C>A
n.2631C>A
c.2715C>A (p.Thr905=)
c.1437C>A (p.Thr479=)
c.2265C>A (p.Thr755=)
c.2241C>A (p.Thr747=)
n.2646C>A
 gnomAD v4
7g.143351689C=CA1748898282CLCN1c.2691C= (p.Thr897=)
c.2515C=
n.2631C=
c.2715C= (p.Thr905=)
c.1437C= (p.Thr479=)
c.2265C= (p.Thr755=)
c.2241C= (p.Thr747=)
n.2646C=
7g.143351689C>GCA458542416CLCN1c.2691C>G (p.Thr897=)
c.2515C>G
n.2631C>G
c.2715C>G (p.Thr905=)
c.1437C>G (p.Thr479=)
c.2265C>G (p.Thr755=)
c.2241C>G (p.Thr747=)
n.2646C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351689C>TCA4537768CLCN1c.2691C>T (p.Thr897=)
c.2515C>T
n.2631C>T
c.2715C>T (p.Thr905=)
c.1437C>T (p.Thr479=)
c.2265C>T (p.Thr755=)
c.2241C>T (p.Thr747=)
n.2646C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351690G>ACA4537769CLCN1c.2692G>A (p.Gly898Arg)
c.2516G>A
n.2632G>A
c.2716G>A (p.Gly906Arg)
c.1438G>A (p.Gly480Arg)
c.2266G>A (p.Gly756Arg)
c.2242G>A (p.Gly748Arg)
n.2647G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351690G>CCA369653619CLCN1c.2692G>C (p.Gly898Arg)
c.2516G>C
n.2632G>C
c.2716G>C (p.Gly906Arg)
c.1438G>C (p.Gly480Arg)
c.2266G>C (p.Gly756Arg)
c.2242G>C (p.Gly748Arg)
n.2647G>C
7g.143351690G=CA1748898283CLCN1c.2692G= (p.Gly898=)
c.2516G=
n.2632G=
c.2716G= (p.Gly906=)
c.1438G= (p.Gly480=)
c.2266G= (p.Gly756=)
c.2242G= (p.Gly748=)
n.2647G=
7g.143351690G>TCA369653620CLCN1c.2692G>T (p.Gly898Trp)
c.2516G>T
n.2632G>T
c.2716G>T (p.Gly906Trp)
c.1438G>T (p.Gly480Trp)
c.2266G>T (p.Gly756Trp)
c.2242G>T (p.Gly748Trp)
n.2647G>T
7g.143351691G>ACA4537770CLCN1c.2693G>A (p.Gly898Glu)
c.2517G>A
n.2633G>A
c.2717G>A (p.Gly906Glu)
c.1439G>A (p.Gly480Glu)
c.2267G>A (p.Gly756Glu)
c.2243G>A (p.Gly748Glu)
n.2648G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351691G>CCA369653621CLCN1c.2693G>C (p.Gly898Ala)
c.2517G>C
n.2633G>C
c.2717G>C (p.Gly906Ala)
c.1439G>C (p.Gly480Ala)
c.2267G>C (p.Gly756Ala)
c.2243G>C (p.Gly748Ala)
n.2648G>C
 gnomAD v4
7g.143351691G=CA1748898284CLCN1c.2693G= (p.Gly898=)
c.2517G=
n.2633G=
c.2717G= (p.Gly906=)
c.1439G= (p.Gly480=)
c.2267G= (p.Gly756=)
c.2243G= (p.Gly748=)
n.2648G=
7g.143351691G>TCA369653622CLCN1c.2693G>T (p.Gly898Val)
c.2517G>T
n.2633G>T
c.2717G>T (p.Gly906Val)
c.1439G>T (p.Gly480Val)
c.2267G>T (p.Gly756Val)
c.2243G>T (p.Gly748Val)
n.2648G>T
 COSMIC
7g.143351692G>ACA458542422CLCN1c.2694G>A (p.Gly898=)
c.2518G>A
n.2634G>A
c.2718G>A (p.Gly906=)
c.1440G>A (p.Gly480=)
c.2268G>A (p.Gly756=)
c.2244G>A (p.Gly748=)
n.2649G>A
 dbSNP
7g.143351692G>CCA458542423CLCN1c.2694G>C (p.Gly898=)
c.2518G>C
n.2634G>C
c.2718G>C (p.Gly906=)
c.1440G>C (p.Gly480=)
c.2268G>C (p.Gly756=)
c.2244G>C (p.Gly748=)
n.2649G>C
7g.143351692G=CA1748898285CLCN1c.2694G= (p.Gly898=)
c.2518G=
n.2634G=
c.2718G= (p.Gly906=)
c.1440G= (p.Gly480=)
c.2268G= (p.Gly756=)
c.2244G= (p.Gly748=)
n.2649G=
7g.143351692G>TCA458542424CLCN1c.2694G>T (p.Gly898=)
c.2518G>T
n.2634G>T
c.2718G>T (p.Gly906=)
c.1440G>T (p.Gly480=)
c.2268G>T (p.Gly756=)
c.2244G>T (p.Gly748=)
n.2649G>T
 ClinVar dbSNP gnomAD v4
7g.143351693G>ACA369653625CLCN1c.2695G>A (p.Ala899Thr)
c.2519G>A
n.2635G>A
c.2719G>A (p.Ala907Thr)
c.1441G>A (p.Ala481Thr)
c.2269G>A (p.Ala757Thr)
c.2245G>A (p.Ala749Thr)
n.2650G>A
 ClinVar
7g.143351693G>CCA369653623CLCN1c.2695G>C (p.Ala899Pro)
c.2519G>C
n.2635G>C
c.2719G>C (p.Ala907Pro)
c.1441G>C (p.Ala481Pro)
c.2269G>C (p.Ala757Pro)
c.2245G>C (p.Ala749Pro)
n.2650G>C
7g.143351693G>TCA369653624CLCN1c.2695G>T (p.Ala899Ser)
c.2519G>T
n.2635G>T
c.2719G>T (p.Ala907Ser)
c.1441G>T (p.Ala481Ser)
c.2269G>T (p.Ala757Ser)
c.2245G>T (p.Ala749Ser)
n.2650G>T
7g.143351694C>ACA369653626CLCN1c.2696C>A (p.Ala899Glu)
c.2520C>A
n.2636C>A
c.2720C>A (p.Ala907Glu)
c.1442C>A (p.Ala481Glu)
c.2270C>A (p.Ala757Glu)
c.2246C>A (p.Ala749Glu)
n.2651C>A
 gnomAD v4
7g.143351694C=CA1748898286CLCN1c.2696C= (p.Ala899=)
c.2520C=
n.2636C=
c.2720C= (p.Ala907=)
c.1442C= (p.Ala481=)
c.2270C= (p.Ala757=)
c.2246C= (p.Ala749=)
n.2651C=
7g.143351694C>GCA369653627CLCN1c.2696C>G (p.Ala899Gly)
c.2520C>G
n.2636C>G
c.2720C>G (p.Ala907Gly)
c.1442C>G (p.Ala481Gly)
c.2270C>G (p.Ala757Gly)
c.2246C>G (p.Ala749Gly)
n.2651C>G
7g.143351694C>TCA369653628CLCN1c.2696C>T (p.Ala899Val)
c.2520C>T
n.2636C>T
c.2720C>T (p.Ala907Val)
c.1442C>T (p.Ala481Val)
c.2270C>T (p.Ala757Val)
c.2246C>T (p.Ala749Val)
n.2651C>T
 dbSNP gnomAD v2 gnomAD v4
7g.143351695A=CA1748898287CLCN1c.2697A= (p.Ala899=)
c.2521A=
n.2637A=
c.2721A= (p.Ala907=)
c.1443A= (p.Ala481=)
c.2271A= (p.Ala757=)
c.2247A= (p.Ala749=)
n.2652A=
7g.143351695A>CCA458542430CLCN1c.2697A>C (p.Ala899=)
c.2521A>C
n.2637A>C
c.2721A>C (p.Ala907=)
c.1443A>C (p.Ala481=)
c.2271A>C (p.Ala757=)
c.2247A>C (p.Ala749=)
n.2652A>C
 dbSNP
7g.143351695A>GCA458542431CLCN1c.2697A>G (p.Ala899=)
c.2521A>G
n.2637A>G
c.2721A>G (p.Ala907=)
c.1443A>G (p.Ala481=)
c.2271A>G (p.Ala757=)
c.2247A>G (p.Ala749=)
n.2652A>G
7g.143351695A>TCA458542432CLCN1c.2697A>T (p.Ala899=)
c.2521A>T
n.2637A>T
c.2721A>T (p.Ala907=)
c.1443A>T (p.Ala481=)
c.2271A>T (p.Ala757=)
c.2247A>T (p.Ala749=)
n.2652A>T
7g.143351696C>ACA369653629CLCN1c.2698C>A (p.Pro900Thr)
c.2522C>A
n.2638C>A
c.2722C>A (p.Pro908Thr)
c.1444C>A (p.Pro482Thr)
c.2272C>A (p.Pro758Thr)
c.2248C>A (p.Pro750Thr)
n.2653C>A
7g.143351696C>GCA369653630CLCN1c.2698C>G (p.Pro900Ala)
c.2522C>G
n.2638C>G
c.2722C>G (p.Pro908Ala)
c.1444C>G (p.Pro482Ala)
c.2272C>G (p.Pro758Ala)
c.2248C>G (p.Pro750Ala)
n.2653C>G
7g.143351696C>TCA369653631CLCN1c.2698C>T (p.Pro900Ser)
c.2522C>T
n.2638C>T
c.2722C>T (p.Pro908Ser)
c.1444C>T (p.Pro482Ser)
c.2272C>T (p.Pro758Ser)
c.2248C>T (p.Pro750Ser)
n.2653C>T
7g.143351697C>ACA369653632CLCN1c.2699C>A (p.Pro900His)
c.2523C>A
n.2639C>A
c.2723C>A (p.Pro908His)
c.1445C>A (p.Pro482His)
c.2273C>A (p.Pro758His)
c.2249C>A (p.Pro750His)
n.2654C>A
7g.143351697C>GCA369653633CLCN1c.2699C>G (p.Pro900Arg)
c.2523C>G
n.2639C>G
c.2723C>G (p.Pro908Arg)
c.1445C>G (p.Pro482Arg)
c.2273C>G (p.Pro758Arg)
c.2249C>G (p.Pro750Arg)
n.2654C>G
7g.143351697C>TCA369653634CLCN1c.2699C>T (p.Pro900Leu)
c.2523C>T
n.2639C>T
c.2723C>T (p.Pro908Leu)
c.1445C>T (p.Pro482Leu)
c.2273C>T (p.Pro758Leu)
c.2249C>T (p.Pro750Leu)
n.2654C>T
7g.143351697_143351698delinsCTCA1748898288CLCN1c.2699_2700delinsCT (p.Pro900=)
c.2523_2524delinsCT
n.2639_2640delinsCT
c.2723_2724delinsCT (p.Pro908=)
c.1445_1446delinsCT (p.Pro482=)
c.2273_2274delinsCT (p.Pro758=)
c.2249_2250delinsCT (p.Pro750=)
n.2654_2655delinsCT
7g.143351698delCA578626961CLCN1c.2700del (p.Pro901HisfsTer22)
c.2524del
n.2640del
c.2724del (p.Pro909HisfsTer22)
c.1446del (p.Pro483HisfsTer22)
c.2274del (p.Pro759HisfsTer22)
c.2250del (p.Pro751HisfsTer22)
n.2655del
 dbSNP gnomAD v2 gnomAD v4
7g.143351698T>ACA4537771CLCN1c.2700T>A (p.Pro900=)
c.2524T>A
n.2640T>A
c.2724T>A (p.Pro908=)
c.1446T>A (p.Pro482=)
c.2274T>A (p.Pro758=)
c.2250T>A (p.Pro750=)
n.2655T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351698T>CCA458542435CLCN1c.2700T>C (p.Pro900=)
c.2524T>C
n.2640T>C
c.2724T>C (p.Pro908=)
c.1446T>C (p.Pro482=)
c.2274T>C (p.Pro758=)
c.2250T>C (p.Pro750=)
n.2655T>C
7g.143351698T>GCA458542436CLCN1c.2700T>G (p.Pro900=)
c.2524T>G
n.2640T>G
c.2724T>G (p.Pro908=)
c.1446T>G (p.Pro482=)
c.2274T>G (p.Pro758=)
c.2250T>G (p.Pro750=)
n.2655T>G
7g.143351698T=CA1748898289CLCN1c.2700T= (p.Pro900=)
c.2524T=
n.2640T=
c.2724T= (p.Pro908=)
c.1446T= (p.Pro482=)
c.2274T= (p.Pro758=)
c.2250T= (p.Pro750=)
n.2655T=
7g.143351699C>ACA369653635CLCN1c.2701C>A (p.Pro901Thr)
c.2525C>A
n.2641C>A
c.2725C>A (p.Pro909Thr)
c.1447C>A (p.Pro483Thr)
c.2275C>A (p.Pro759Thr)
c.2251C>A (p.Pro751Thr)
n.2656C>A
7g.143351699C>GCA369653636CLCN1c.2701C>G (p.Pro901Ala)
c.2525C>G
n.2641C>G
c.2725C>G (p.Pro909Ala)
c.1447C>G (p.Pro483Ala)
c.2275C>G (p.Pro759Ala)
c.2251C>G (p.Pro751Ala)
n.2656C>G
 gnomAD v4
7g.143351699C>TCA369653637CLCN1c.2701C>T (p.Pro901Ser)
c.2525C>T
n.2641C>T
c.2725C>T (p.Pro909Ser)
c.1447C>T (p.Pro483Ser)
c.2275C>T (p.Pro759Ser)
c.2251C>T (p.Pro751Ser)
n.2656C>T
7g.143351700C>ACA369653640CLCN1c.2702C>A (p.Pro901Gln)
c.2526C>A
n.2642C>A
c.2726C>A (p.Pro909Gln)
c.1448C>A (p.Pro483Gln)
c.2276C>A (p.Pro759Gln)
c.2252C>A (p.Pro751Gln)
n.2657C>A
 COSMIC
7g.143351700C>GCA369653639CLCN1c.2702C>G (p.Pro901Arg)
c.2526C>G
n.2642C>G
c.2726C>G (p.Pro909Arg)
c.1448C>G (p.Pro483Arg)
c.2276C>G (p.Pro759Arg)
c.2252C>G (p.Pro751Arg)
n.2657C>G
7g.143351700C>TCA369653638CLCN1c.2702C>T (p.Pro901Leu)
c.2526C>T
n.2642C>T
c.2726C>T (p.Pro909Leu)
c.1448C>T (p.Pro483Leu)
c.2276C>T (p.Pro759Leu)
c.2252C>T (p.Pro751Leu)
n.2657C>T
7g.143351701A=CA1748898290CLCN1c.2703A= (p.Pro901=)
c.2527A=
n.2643A=
c.2727A= (p.Pro909=)
c.1449A= (p.Pro483=)
c.2277A= (p.Pro759=)
c.2253A= (p.Pro751=)
n.2658A=
7g.143351701A>CCA458542441CLCN1c.2703A>C (p.Pro901=)
c.2527A>C
n.2643A>C
c.2727A>C (p.Pro909=)
c.1449A>C (p.Pro483=)
c.2277A>C (p.Pro759=)
c.2253A>C (p.Pro751=)
n.2658A>C
7g.143351701A>GCA458542442CLCN1c.2703A>G (p.Pro901=)
c.2527A>G
n.2643A>G
c.2727A>G (p.Pro909=)
c.1449A>G (p.Pro483=)
c.2277A>G (p.Pro759=)
c.2253A>G (p.Pro751=)
n.2658A>G
 dbSNP gnomAD v4
7g.143351701A>TCA458542443CLCN1c.2703A>T (p.Pro901=)
c.2527A>T
n.2643A>T
c.2727A>T (p.Pro909=)
c.1449A>T (p.Pro483=)
c.2277A>T (p.Pro759=)
c.2253A>T (p.Pro751=)
n.2658A>T
7g.143351702T>ACA369653642CLCN1c.2704T>A (p.Ser902Thr)
c.2528T>A
n.2644T>A
c.2728T>A (p.Ser910Thr)
c.1450T>A (p.Ser484Thr)
c.2278T>A (p.Ser760Thr)
c.2254T>A (p.Ser752Thr)
n.2659T>A
7g.143351702T>CCA369653641CLCN1c.2704T>C (p.Ser902Pro)
c.2528T>C
n.2644T>C
c.2728T>C (p.Ser910Pro)
c.1450T>C (p.Ser484Pro)
c.2278T>C (p.Ser760Pro)
c.2254T>C (p.Ser752Pro)
n.2659T>C
 ClinVar dbSNP gnomAD v4
7g.143351702T>GCA369653643CLCN1c.2704T>G (p.Ser902Ala)
c.2528T>G
n.2644T>G
c.2728T>G (p.Ser910Ala)
c.1450T>G (p.Ser484Ala)
c.2278T>G (p.Ser760Ala)
c.2254T>G (p.Ser752Ala)
n.2659T>G
7g.143351702T=CA1748898291CLCN1c.2704T= (p.Ser902=)
c.2528T=
n.2644T=
c.2728T= (p.Ser910=)
c.1450T= (p.Ser484=)
c.2278T= (p.Ser760=)
c.2254T= (p.Ser752=)
n.2659T=
7g.143351703C>ACA369653644CLCN1c.2705C>A (p.Ser902Tyr)
c.2529C>A
n.2645C>A
c.2729C>A (p.Ser910Tyr)
c.1451C>A (p.Ser484Tyr)
c.2279C>A (p.Ser760Tyr)
c.2255C>A (p.Ser752Tyr)
n.2660C>A
7g.143351703C>GCA369653646CLCN1c.2705C>G (p.Ser902Cys)
c.2529C>G
n.2645C>G
c.2729C>G (p.Ser910Cys)
c.1451C>G (p.Ser484Cys)
c.2279C>G (p.Ser760Cys)
c.2255C>G (p.Ser752Cys)
n.2660C>G
7g.143351703C>TCA369653645CLCN1c.2705C>T (p.Ser902Phe)
c.2529C>T
n.2645C>T
c.2729C>T (p.Ser910Phe)
c.1451C>T (p.Ser484Phe)
c.2279C>T (p.Ser760Phe)
c.2255C>T (p.Ser752Phe)
n.2660C>T
7g.143351704T>ACA458542450CLCN1c.2706T>A (p.Ser902=)
c.2530T>A
n.2646T>A
c.2730T>A (p.Ser910=)
c.1452T>A (p.Ser484=)
c.2280T>A (p.Ser760=)
c.2256T>A (p.Ser752=)
n.2661T>A
7g.143351704T>CCA458542449CLCN1c.2706T>C (p.Ser902=)
c.2530T>C
n.2646T>C
c.2730T>C (p.Ser910=)
c.1452T>C (p.Ser484=)
c.2280T>C (p.Ser760=)
c.2256T>C (p.Ser752=)
n.2661T>C
7g.143351704T>GCA458542448CLCN1c.2706T>G (p.Ser902=)
c.2530T>G
n.2646T>G
c.2730T>G (p.Ser910=)
c.1452T>G (p.Ser484=)
c.2280T>G (p.Ser760=)
c.2256T>G (p.Ser752=)
n.2661T>G
7g.143351705T>ACA369653647CLCN1c.2707T>A (p.Ser903Thr)
c.2531T>A
n.2647T>A
c.2731T>A (p.Ser911Thr)
c.1453T>A (p.Ser485Thr)
c.2281T>A (p.Ser761Thr)
c.2257T>A (p.Ser753Thr)
n.2662T>A
7g.143351705T>CCA369653648CLCN1c.2707T>C (p.Ser903Pro)
c.2531T>C
n.2647T>C
c.2731T>C (p.Ser911Pro)
c.1453T>C (p.Ser485Pro)
c.2281T>C (p.Ser761Pro)
c.2257T>C (p.Ser753Pro)
n.2662T>C
7g.143351705T>GCA369653649CLCN1c.2707T>G (p.Ser903Ala)
c.2531T>G
n.2647T>G
c.2731T>G (p.Ser911Ala)
c.1453T>G (p.Ser485Ala)
c.2281T>G (p.Ser761Ala)
c.2257T>G (p.Ser753Ala)
n.2662T>G
7g.143351706C>ACA369653650CLCN1c.2708C>A (p.Ser903Tyr)
c.2532C>A
n.2648C>A
c.2732C>A (p.Ser911Tyr)
c.1454C>A (p.Ser485Tyr)
c.2282C>A (p.Ser761Tyr)
c.2258C>A (p.Ser753Tyr)
n.2663C>A
7g.143351706C=CA1748898292CLCN1c.2708C= (p.Ser903=)
c.2532C=
n.2648C=
c.2732C= (p.Ser911=)
c.1454C= (p.Ser485=)
c.2282C= (p.Ser761=)
c.2258C= (p.Ser753=)
n.2663C=
7g.143351706C>GCA369653651CLCN1c.2708C>G (p.Ser903Cys)
c.2532C>G
n.2648C>G
c.2732C>G (p.Ser911Cys)
c.1454C>G (p.Ser485Cys)
c.2282C>G (p.Ser761Cys)
c.2258C>G (p.Ser753Cys)
n.2663C>G
7g.143351706C>TCA4537772CLCN1c.2708C>T (p.Ser903Phe)
c.2532C>T
n.2648C>T
c.2732C>T (p.Ser911Phe)
c.1454C>T (p.Ser485Phe)
c.2282C>T (p.Ser761Phe)
c.2258C>T (p.Ser753Phe)
n.2663C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
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

Number of alleles fetched